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<title>
Entry
- *606933 - TYROSINASE; TYR
- OMIM
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<span class="h4">*606933</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
<a href="#description">Description</a>
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#geneFunction">Gene Function</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#populationGenetics">Population Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">&#9658;</span> Genome
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000077498;t=ENST00000263321" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=7299" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=606933" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">&#9658;</span> DNA
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000077498;t=ENST00000263321" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000372,XM_011542970" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000372" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=606933" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
<span class="panel-title">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">&#9658;</span> Protein
</a>
</span>
</span>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://hprd.org/summary?hprd_id=06086&isoform_id=06086_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
<div><a href="https://www.proteinatlas.org/search/TYR" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/protein/37507,37509,340028,340035,340037,340040,401235,403422,4261684,4261685,4507753,12656248,12700455,20072606,119579760,119579761,441477193,441477195,441477197,542130316,542130318,542130320,542130324,542130326,542130328,542130330,542130332,542130334,542130336,542130338,542130340,542130342,542130344,542130346,542130348,542130350,542130352,542130354,542130356,542130358,542130360,542130362,542130364,542130366,542130368,542130370,542130372,542130374,542130376,542130384,542130390,542130400,542130402,542130408,542130410,542130412,542130414,542130416,542130420,542130424,542130426,542130428,542130430,542130432,542130434,542130436,542130438,542130440,542130442,542130444,542130446,542130448,542130450,542130452,542130454,542130456,542130462,542130464,542130466,542130468,542130470,542130472,542130474,542130476,542130480,542130482,542130484,542130486,542130488,542130490,542130492,542130494,542130496,542130498,542130500,542130502,542130504,542130506,542130508,542130510,542130512,542130514,542130516,542130518,542130520,542130522,542130524,542130526,542130528,542130530,542130532,542130534,542130536,542130540,542130552,542130562,542130568,542130570,542130572,542130574,542130576,542130578,542130580,542130582,542130584,542130586,542130588,542130592,542130594,542130596,542130600,542130604,542130606,542130608,542130610,542130612,542130614,542130616,542130618,542130620,542130622,542130624,542130626,542130628,542130630,542130632,542130634,632933336,767970526,2462527306" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
<div><a href="https://www.uniprot.org/uniprotkb/P14679" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
<span class="panel-title">
<span class="small">
<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Gene Info</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="http://biogps.org/#goto=genereport&id=7299" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000077498;t=ENST00000263321" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=TYR" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=TYR" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+7299" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
<dd><a href="http://v1.marrvel.org/search/gene/TYR" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
<dd><a href="https://monarchinitiative.org/NCBIGene:7299" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
<div><a href="https://www.ncbi.nlm.nih.gov/gene/7299" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr11&hgg_gene=ENST00000263321.6&hgg_start=89177875&hgg_end=89295759&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
<span class="panel-title">
<span class="small">
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:12442" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
<div><a href="https://medlineplus.gov/genetics/gene/tyr" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606933[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
<span class="panel-title">
<span class="small">
<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">&#9660;</span> Variation
</a>
</span>
</span>
</div>
<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606933[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
<div><a href="https://www.deciphergenomics.org/gene/TYR/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000077498" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
<div><a href="https://www.ebi.ac.uk/gwas/search?query=TYR" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog&nbsp;</a></div>
<div><a href="https://www.gwascentral.org/search?q=TYR" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central&nbsp;</a></div>
<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=TYR" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Locus Specific DBs</div>
<div id="mimLocusSpecificDBsFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="http://albinismdb.med.umn.edu/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Albinism Database</a></div><div style="margin-left: 0.5em;"><a href="http://www.retina-international.org/files/sci-news/tyrmut.htm" title="Mutations of the Tyrosinase Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Mutations of the Tyrosinas…</a></div>
</div>
<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=TYR&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
<div><a href="https://www.pharmgkb.org/gene/PA37095" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/gene/HGNC:12442" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="https://www.mousephenotype.org/data/genes/MGI:98880" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
<div><a href="http://v1.marrvel.org/search/gene/TYR#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
<div><a href="http://www.informatics.jax.org/marker/MGI:98880" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gene/7299/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
<div><a href="https://omia.org/results?search_type=advanced&omia_id=000202,000369" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
<div><a href="https://www.orthodb.org/?ncbi=7299" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Wormbase Gene</div>
<div id="mimWormbaseGeneFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00009001;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00009001&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00010661;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00010661&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00015332;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00015332&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00016419;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00016419&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00021553;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00021553&nbsp;</a></div>
</div>
<div><a href="https://zfin.org/ZDB-GENE-991026-3" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:606933" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
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&nbsp;
<div style="display: table-cell;">Cellular Pathways</div>
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7299" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
<div><a href="https://reactome.org/content/query?q=TYR&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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<div>
<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 6483008, 82342003<br />
<strong>ICD10CM:</strong> E70.320<br />
">ICD+</a>
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<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
606933
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
TYROSINASE; TYR
</span>
</h3>
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<div>
<br />
</div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
<p>
<span class="mim-text-font">
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TYR" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TYR</a></em></strong>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
<p>
<span class="mim-text-font">
<strong>
<em>
Cytogenetic location: <a href="/geneMap/11/816?start=-3&limit=10&highlight=816">11q14.3</a>
&nbsp;
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:89177875-89295759&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">11:89,177,875-89,295,759</a> </span>
</em>
</strong>
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
</span>
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
<span class="hidden-sm hidden-xs pull-right">
<a href="/clinicalSynopsis/table?mimNumber=601800,601800,601800,203100,606952" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
View Clinical Synopses
</a>
</span>
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="5">
<span class="mim-font">
<a href="/geneMap/11/816?start=-3&limit=10&highlight=816">
11q14.3
</a>
</span>
</td>
<td>
<span class="mim-font">
[Skin/hair/eye pigmentation 3, blue/green eyes]
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601800"> 601800 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
[Skin/hair/eye pigmentation 3, light/dark/freckling skin]
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601800"> 601800 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
{Melanoma, cutaneous malignant, susceptibility to, 8}
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601800"> 601800 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Albinism, oculocutaneous, type IA
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/203100"> 203100 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Albinism, oculocutaneous, type IB
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606952"> 606952 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
</span>
</td>
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<li><a href="/graph/linear/606933" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<a id="text" class="mim-anchor"></a>
<h4>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
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</h4>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Description</strong>
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<p>Tyrosinase (<a href="https://enzyme.expasy.org/EC/1.14.18.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 1.14.18.1</a>) catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin (<a href="#45" class="mim-tip-reference" title="Spritz, R. A. &lt;strong&gt;Molecular genetics of oculocutaneous albinism.&lt;/strong&gt; Hum. Molec. Genet. 3: 1469-1475, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7849740/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7849740&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/3.suppl_1.1469&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7849740">Spritz, 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
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<br />
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</div>
<div>
<a id="cloning" class="mim-anchor"></a>
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Cloning and Expression</strong>
</span>
</h4>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#21" class="mim-tip-reference" title="Kwon, B. S., Haq, A. K., Pomerantz, S. H., Halaban, R. &lt;strong&gt;Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.&lt;/strong&gt; Proc. Nat. Acad. Sci. 84: 7473-7477, 1987. Note: Erratum: Proc. Nat. Acad. Sci. 85: 6352 only, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2823263/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2823263&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.84.21.7473&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2823263">Kwon et al. (1987)</a> screened a lambda-gt11 human melanocyte cDNA library with antibodies against hamster tyrosinase and obtained a partial clone for human tyrosinase. The deduced protein lacked the initiating methionine, but its first 12 amino acids had characteristics of a signal peptide, indicating that the sequence of the mature protein was intact. The deduced mature protein contains 548 amino acids and has a calculated molecular mass of 62.6 kD. It has 5 glycosylation sites, 2 cysteine-rich domains, several histidine-rich sites that may be involved in copper binding, and a C-terminal transmembrane domain. RNA blot analysis detected an approximately 2.4-kb mRNA in normal and malignant human melanocytes, but not in other cell lines tested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2823263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#40" class="mim-tip-reference" title="Shibahara, S., Tomita, Y., Tagami, H., Muller, R. M., Cohen, T. &lt;strong&gt;Molecular basis for the heterogeneity of human tyrosinase.&lt;/strong&gt; Tohoku J. Exp. Med. 156: 403-414, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2854305/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2854305&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1620/tjem.156.403&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2854305">Shibahara et al. (1988)</a> isolated a tyrosinase cDNA from a human melanoma cDNA library. The cDNA lacked the 5-prime end, including the initiation codon, but it included the full coding sequence for the mature enzyme. <a href="#40" class="mim-tip-reference" title="Shibahara, S., Tomita, Y., Tagami, H., Muller, R. M., Cohen, T. &lt;strong&gt;Molecular basis for the heterogeneity of human tyrosinase.&lt;/strong&gt; Tohoku J. Exp. Med. 156: 403-414, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2854305/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2854305&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1620/tjem.156.403&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2854305">Shibahara et al. (1988)</a> noted multiple differences between their cDNA and the cDNA cloned by <a href="#21" class="mim-tip-reference" title="Kwon, B. S., Haq, A. K., Pomerantz, S. H., Halaban, R. &lt;strong&gt;Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.&lt;/strong&gt; Proc. Nat. Acad. Sci. 84: 7473-7477, 1987. Note: Erratum: Proc. Nat. Acad. Sci. 85: 6352 only, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2823263/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2823263&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.84.21.7473&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2823263">Kwon et al. (1987)</a>, particularly in the region encoding the C terminus. Therefore, <a href="#40" class="mim-tip-reference" title="Shibahara, S., Tomita, Y., Tagami, H., Muller, R. M., Cohen, T. &lt;strong&gt;Molecular basis for the heterogeneity of human tyrosinase.&lt;/strong&gt; Tohoku J. Exp. Med. 156: 403-414, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2854305/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2854305&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1620/tjem.156.403&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2854305">Shibahara et al. (1988)</a> isolated a genomic clone harboring the 3-prime end of the tyrosinase coding sequence, which confirmed the sequence of their cDNA. The deduced mature protein contains 511 amino acids and has a calculated molecular mass of about 58 kD, similar to the apparent molecular mass of purified tyrosinase. It contains 2 evolutionarily conserved copper-binding regions and a C-terminal transmembrane domain. Sixteen cysteines and 6 potential N-glycosylation sites are conserved in mouse and human tyrosinase. RNA blot analysis detected a 2.0-kb mRNA in human melanoma cells, but not in HeLa cells. <a href="#40" class="mim-tip-reference" title="Shibahara, S., Tomita, Y., Tagami, H., Muller, R. M., Cohen, T. &lt;strong&gt;Molecular basis for the heterogeneity of human tyrosinase.&lt;/strong&gt; Tohoku J. Exp. Med. 156: 403-414, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2854305/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2854305&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1620/tjem.156.403&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2854305">Shibahara et al. (1988)</a> presented evidence suggesting that tyrosinase is alternatively spliced. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2854305+2823263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a human tyrosinase cDNA clone, <a href="#2" class="mim-tip-reference" title="Barton, D. E., Kwon, B. S., Francke, U. &lt;strong&gt;Human tyrosinase gene, mapped to chromosome 11 (q14-q21), defines second region of homology with mouse chromosome 7.&lt;/strong&gt; Genomics 3: 17-24, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3146546/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3146546&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(88)90153-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3146546">Barton et al. (1988)</a> and <a href="#22" class="mim-tip-reference" title="Kwon, B. S., Haq, A. K., Wakulchik, M., Kestler, D., Barton, D. E., Francke, U., Lamoreux, M. L., Whitney, J. B., III, Halaban, R. &lt;strong&gt;Isolation, chromosomal mapping, and expression of the mouse tyrosinase gene.&lt;/strong&gt; J. Invest. Derm. 93: 589-594, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2507645/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2507645&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/1523-1747.ep12319693&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2507645">Kwon et al. (1989)</a> isolated mouse tyrosinase genomic clones. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3146546+2507645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
</div>
</div>
<div>
<a id="geneStructure" class="mim-anchor"></a>
<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Gene Structure</strong>
</span>
</h4>
</div>
<div id="mimGeneStructureFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#46" class="mim-tip-reference" title="Spritz, R., Strunk, K., Oetting, W., King, R. &lt;strong&gt;RFLP for TaqI at the human tyrosinase locus.&lt;/strong&gt; Nucleic Acids Res. 16: 9890, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2903492/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2903492&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/nar/16.20.9890&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2903492">Spritz et al. (1988)</a> identified a TaqI RFLP at the TYR locus. The human tyrosinase gene contains 4 introns, with exon-intron boundaries identical to those in the mouse gene. <a href="#10" class="mim-tip-reference" title="Giebel, L. B., Spritz, R. A. &lt;strong&gt;RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR.&lt;/strong&gt; Nucleic Acids Res. 18: 3103, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1971925/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1971925&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/nar/18.10.3103-a&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1971925">Giebel and Spritz (1990)</a> reported an MboI RFLP in the TYR gene. <a href="#12" class="mim-tip-reference" title="Giebel, L. B., Strunk, K. M., Spritz, R. A. &lt;strong&gt;Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment.&lt;/strong&gt; Genomics 9: 435-445, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1903356/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1903356&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(91)90409-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1903356">Giebel et al. (1991)</a> demonstrated that the tyrosinase gene contains 5 exons. A tyrosinase-related 'gene,' which contains only exons 4 and 5, is located on 11p; see <a href="/entry/191270">191270</a>. <a href="#37" class="mim-tip-reference" title="Ponnazhagan, S., Hou, L., Kwon, B. S. &lt;strong&gt;Structural organization of the human tyrosinase gene and sequence analysis and characterization of its promoter region.&lt;/strong&gt; J. Invest. Derm. 102: 744-748, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8176257/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8176257&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/1523-1747.ep12376924&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8176257">Ponnazhagan et al. (1994)</a> characterized the promoter region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2903492+1903356+8176257+1971925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Mapping</strong>
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</h4>
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<div id="mimMappingFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#21" class="mim-tip-reference" title="Kwon, B. S., Haq, A. K., Pomerantz, S. H., Halaban, R. &lt;strong&gt;Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.&lt;/strong&gt; Proc. Nat. Acad. Sci. 84: 7473-7477, 1987. Note: Erratum: Proc. Nat. Acad. Sci. 85: 6352 only, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2823263/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2823263&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.84.21.7473&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2823263">Kwon et al. (1987)</a> used Southern blot analysis of DNA derived from newborn mice carrying lethal albino deletion mutations to show that the clone maps near or at the c-albino locus on mouse chromosome 7, which is known to be the structural gene for tyrosinase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2823263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Barton, D. E., Kwon, B. S., Francke, U. &lt;strong&gt;Human tyrosinase gene, mapped to chromosome 11 (q14-q21), defines second region of homology with mouse chromosome 7.&lt;/strong&gt; Genomics 3: 17-24, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3146546/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3146546&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(88)90153-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3146546">Barton et al. (1988)</a> used a human tyrosinase cDNA to map the human TYR locus to chromosome 11q14-q21 by Southern blot analysis of somatic cell hybrid DNA and by in situ chromosomal hybridization. A second site of tyrosinase-related sequences was detected on the short arm of chromosome 11 near the centromere (p11.2-cen). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3146546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="geneFunction" class="mim-anchor"></a>
<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimGeneFunctionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Gene Function</strong>
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<div id="mimGeneFunctionFold" class="collapse in mimTextToggleFold">
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<p><a href="#35" class="mim-tip-reference" title="Petris, M. J., Strausak, D., Mercer, J. F. B. &lt;strong&gt;The Menkes copper transporter is required for the activation of tyrosinase.&lt;/strong&gt; Hum. Molec. Genet. 9: 2845-2851, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11092760/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11092760&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/9.19.2845&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11092760">Petris et al. (2000)</a> investigated whether tyrosinase activity required the copper-transporting P-type ATPase ATP7A (<a href="/entry/300011">300011</a>). Recombinant tyrosinase was inactive when expressed in immortalized fibroblasts from patients with Menkes disease (<a href="/entry/309400">309400</a>), a recessive copper deficiency disorder caused by mutations in ATP7A. In contrast, normal fibroblasts that expressed ATP7A showed substantial tyrosinase activity. Coexpression of ATP7A and tyrosinase from plasmid constructs in Menkes fibroblasts led to activation of tyrosinase and melanogenesis. This ATP7A-dependent activation of tyrosinase was impaired by chelation of copper in the medium of cells and after mutation of the invariant phosphorylation site at asp1044 of ATP7A. The authors proposed that ATP7A transports copper into the secretory pathway of mammalian cells to activate copper-dependent enzymes, including tyrosinase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11092760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#39" class="mim-tip-reference" title="Setty, S. R. G., Tenza, D., Sviderskaya, E. V., Bennett, D. C., Raposo, G., Marks, M. S. &lt;strong&gt;Cell-specific ATP7A transport sustains copper-deficient tyrosinase activity in melanosomes.&lt;/strong&gt; Nature 454: 1142-1146, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18650808/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18650808&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18650808[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nature07163&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18650808">Setty et al. (2008)</a> showed that the pigment cell-specific cuproenzyme tyrosinase acquires copper only transiently and inefficiently within the trans-Golgi network of mouse melanocytes. To catalyze melanin synthesis, tyrosinase is subsequently reloaded with copper within specialized organelles called melanosomes. Copper is supplied to melanosomes by ATP7A, a cohort of which localizes to melanosomes in a BLOC1 (biogenesis of lysosome-related organelles complex-1)-dependent manner. <a href="#39" class="mim-tip-reference" title="Setty, S. R. G., Tenza, D., Sviderskaya, E. V., Bennett, D. C., Raposo, G., Marks, M. S. &lt;strong&gt;Cell-specific ATP7A transport sustains copper-deficient tyrosinase activity in melanosomes.&lt;/strong&gt; Nature 454: 1142-1146, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18650808/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18650808&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18650808[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nature07163&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18650808">Setty et al. (2008)</a> concluded that cell type-specific localization of a metal transporter is required to sustain metallation of an endomembrane cuproenzyme, providing a mechanism for exquisite spatial control of metalloenzyme activity. Moreover, because BLOC1 subunits are mutated in subtypes of the genetic disease Hermansky-Pudlak syndrome (<a href="/entry/203300">203300</a>), these results also show that defects in copper transporter localization contribute to hypopigmentation, and hence perhaps other synaptic defects, in Hermansky-Pudlak syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18650808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Molecular Genetics</strong>
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</h4>
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<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
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<p><strong><em>Oculocutaneous Albinism</em></strong></p><p>
In a child with tyrosinase-negative oculocutaneous albinism (OCA1A; <a href="/entry/203100">203100</a>), <a href="#51" class="mim-tip-reference" title="Tomita, Y., Takeda, A., Okinaga, S., Tagami, H., Shibahara, S. &lt;strong&gt;Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene.&lt;/strong&gt; Biochem. Biophys. Res. Commun. 164: 990-996, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2511845/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2511845&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0006-291x(89)91767-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2511845">Tomita et al. (1989)</a> identified a homozygous 1-bp insertion in exon 2 of the TYR gene (<a href="#0001">606933.0001</a>). The insertion shifted the reading frame and introduced a premature termination signal after amino acid residue 298, resulting in a truncated enzyme lacking 1 of 2 copper-binding regions. Functional analysis indicated that the truncated tyrosinase was catalytically inactive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2511845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with classic tyrosinase-negative OCA, <a href="#43" class="mim-tip-reference" title="Spritz, R. A., Strunk, K., King, R. A. &lt;strong&gt;Molecular analyses of the tyrosinase gene in patients with tyrosinase-deficient oculocutaneous albinism. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 45 (suppl.): A221, 1989."None>Spritz et al. (1989)</a> found a thr355-to-lys substitution in the TYR gene (<a href="#0003">606933.0003</a>) that abolished 1 of 6 putative N-linked glycosylation sites that are completely conserved between humans and mice.</p><p>In a patient with 'yellow' OCA, also known as OCA type IB (OCA1B; <a href="/entry/606952">606952</a>), <a href="#43" class="mim-tip-reference" title="Spritz, R. A., Strunk, K., King, R. A. &lt;strong&gt;Molecular analyses of the tyrosinase gene in patients with tyrosinase-deficient oculocutaneous albinism. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 45 (suppl.): A221, 1989."None>Spritz et al. (1989)</a> identified a pro81-to-leu substitution in the TYR gene (<a href="#0002">606933.0002</a>) that may interfere with the normal folding of the tyrosinase polypeptide.</p><p>In 6 of 30 unrelated patients with OCA1A, <a href="#11" class="mim-tip-reference" title="Giebel, L. B., Strunk, K. M., Jackson, C. E., Hanifin, J. M., King, R. A., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in patients with type IB (&#x27;yellow&#x27;) oculocutaneous albinism. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 47 (suppl.): A156, 1990."None>Giebel et al. (1990)</a> identified the P81L substitution in the TYR gene. <a href="#11" class="mim-tip-reference" title="Giebel, L. B., Strunk, K. M., Jackson, C. E., Hanifin, J. M., King, R. A., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in patients with type IB (&#x27;yellow&#x27;) oculocutaneous albinism. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 47 (suppl.): A156, 1990."None>Giebel et al. (1990)</a> also identified mutations in the TYR gene in patients with OCA1B (see, e.g., <a href="#0006">606933.0006</a> and <a href="#0007">606933.0007</a>).</p><p>On the basis of an analysis of 16 missense mutations, <a href="#17" class="mim-tip-reference" title="King, R. A., Mentink, M. M., Oetting, W. S. &lt;strong&gt;Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.&lt;/strong&gt; Molec. Biol. Med. 8: 19-29, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1943686/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1943686&lt;/a&gt;]" pmid="1943686">King et al. (1991)</a> pointed out that most of the mutations cluster in 4 areas of the gene. Two clusters involve the copper A and copper B binding sites and mutations in these areas could disrupt the metal ion-protein interaction necessary for enzyme function. The other 2 clusters are in exons 1 and 4 and could indicate important functional domains of the enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1943686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a> stated that more than 60 independent albinism-producing alleles had been described at the TYR locus. They reviewed 29 of these and commented on 2 additional novel missense substitutions in a 'note added in proof.' They commented that type I OCA in Caucasians clearly results from a great variety of different uncommon alleles. About 90% of OCA in Caucasians was accounted for by the 29 mutations they described. More than 80% of the then-known missense substitutions clustered within 2 relatively small regions of the tyrosinase polypeptide, suggesting that these may represent functionally critical sites within the enzyme. <a href="#27" class="mim-tip-reference" title="Oetting, W. S., King, R. A. &lt;strong&gt;Molecular analysis of type I-A (tyrosine negative) oculocutaneous albinism.&lt;/strong&gt; Hum. Genet. 90: 258-262, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1487241/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1487241&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00220074&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1487241">Oetting and King (1992)</a> reviewed 17 reported missense mutations and 10 nonsense and frameshift mutations causing tyrosinase-negative OCA and added 2 and 3 new mutations of the respective types. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1487241+1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Although a separate locus on chromosome 15 has been identified as the site of mutations responsible for tyrosinase-positive OCA, it turns out, on the basis of the mutation analyses of <a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a>, that some patients clinically defined as 'tyrosinase-positive' OCA (OCA1B; <a href="/entry/203200">203200</a>) in fact have mutations in the tyrosinase gene. <a href="#28" class="mim-tip-reference" title="Oetting, W. S., King, R. A. &lt;strong&gt;Molecular basis of type I (tryrosinase (sic)-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.&lt;/strong&gt; Hum. Mutat. 2: 1-6, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8477259/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8477259&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.1380020102&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8477259">Oetting and King (1993)</a> tabulated 36 mutations identified in type I OCA: 24 missense, 4 nonsense, and 8 frameshift mutations. The affected individuals in these cases were compound heterozygotes. They also listed 6 polymorphic sites useful in haplotype analysis: 2 in the promoter region, 2 in the coding region associated with alternative amino acids in the tyrosinase protein, and 2 RFLPs in the first intron. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8477259+1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Passmore, L. A., Kaesmann-Kellner, B., Weber, B. H. F. &lt;strong&gt;Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.&lt;/strong&gt; Hum. Genet. 105: 200-210, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10987646/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10987646&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390051090&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10987646">Passmore et al. (1999)</a> reported the mutational profile, determined by genetic analysis of the tyrosinase and P (OCA2; <a href="/entry/611409">611409</a>) genes, in a large German albino population. Of the 74 unrelated patients screened, 32 (43%) had mutations in the tyrosinase gene, 16 (22%) had P gene mutations, and 26 (35%) had no detectable genetic abnormalities. A total of 42 distinct mutations were found, of which 19 were novel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10987646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Oetting, W. S., King, R. A. &lt;strong&gt;Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.&lt;/strong&gt; Hum. Mutat. 13: 99-115, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10094567/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10094567&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(1999)13:2&lt;99::AID-HUMU2&gt;3.0.CO;2-C&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10094567">Oetting and King (1999)</a> reviewed mutations and polymorphisms identified in the TYR gene in OCA1, the OCA2 gene, the tyrosinase-related protein-1 gene (TYRP1; <a href="/entry/115501">115501</a>) causing OCA3 (<a href="/entry/203290">203290</a>), the HPS gene in Hermansky-Pudlak syndrome (<a href="/entry/203300">203300</a>), the CHS1 gene in Chediak-Higashi syndrome (<a href="/entry/214500">214500</a>), and the OA1 gene (GPR143; <a href="/entry/300808">300808</a>) in X-linked ocular albinism (<a href="/entry/300500">300500</a>). The data were available online from the International Albinism Center Albinism Database web site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10094567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Normal Pigment Variation</em></strong></p><p>
<a href="#47" class="mim-tip-reference" title="Stokowski, R. P., Pant, P. V. K., Dadd, T., Fereday, A., Hinds, D. A., Jarman, C., Filsell, W., Ginger, R. S., Green, M. R., van der Ouderaa, F. J., Cox, D. R. &lt;strong&gt;A genomewide association study of skin pigmentation in a South Asian population.&lt;/strong&gt; Am. J. Hum. Genet. 81: 1119-1132, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17999355/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17999355&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17999355[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/522235&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17999355">Stokowski et al. (2007)</a> demonstrated an association between the TYR SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1042602;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1042602</a> (S192Y; <a href="#0008">606933.0008</a>) and skin pigmentation variation (SHEP3; <a href="/entry/601800">601800</a>) in individuals of South Asian descent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17999355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a genomewide association study using Icelandic and Dutch population samples, <a href="#49" class="mim-tip-reference" title="Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., Jakobsdottir, M., Steinberg, S., and 13 others. &lt;strong&gt;Genetic determinants of hair, eye and skin pigmentation in Europeans.&lt;/strong&gt; Nature Genet. 39: 1443-1452, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17952075/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17952075&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2007.13&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17952075">Sulem et al. (2007)</a> found an association of the TYR SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1042602;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1042602</a> (S192Y; <a href="#0008">606933.0008</a>) with freckling. They also found strong correlation (r(2) = 0.86) of the TYR SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1393350;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1393350</a> with <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1126809;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1126809</a> (R402Q; <a href="#0009">606933.0009</a>). The association of the <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1393350;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1393350</a> A allele with blue versus green eye color was close to reaching genomewide significance (OR = 1.52, p = 2.0 x 10-(6)), which was confirmed in replication samples (combined p = 3.3 x 10(-12)). The authors also detected possible secondary associations of this SNP with blond versus brown hair and with skin sensitivity to sun. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17952075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Susceptibility to Cutaneous Malignant Melanoma</em></strong></p><p>
<a href="#13" class="mim-tip-reference" title="Gudbjartsson, D. F., Sulem, P., Stacey, S. N., Goldstein, A. M., Rafner, T., Sigurgeirsson, B., Benediktsdottir, K. R., Thorisdottir, K., Ragnarsson, R., Sveinsdottir, S. G., Magnusson, V., Lindblom, A., and 26 others. &lt;strong&gt;ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.&lt;/strong&gt; Nature Genet. 40: 886-891, 2008. Note: Erratum: Nature Genet. 40: 1029 only, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18488027/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18488027&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.161&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18488027">Gudbjartsson et al. (2008)</a> assessed the effect of gene variants affecting hair, eye, and skin pigmentation of Europeans upon the risk of cutaneous melanoma (see <a href="/entry/601800">601800</a>) and basal cell carcinoma. The authors studied 2,121 individuals with cutaneous melanoma and 2,163 individuals with basal cell carcinoma, and over 40,000 controls. A 2-SNP haplotype near the ASIP gene (<a href="/entry/600201">600201</a>) was the variant most strongly associated with both cutaneous melanoma and basal cell carcinoma. The R402Q variant of TYR (<a href="#0009">606933.0009</a>) showed the second most significant association to cutaneous melanoma and basal cell carcinoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18488027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Bishop, D. T., Demenais, F., Iles, M. M., Harland, M., Taylor, J. C., Corda, E., Randerson-Moor, J., Aitken, J. F., Avril, M.-F., Azizi, E., Bakker, B., Bianchi-Scarra, G., and 41 others. &lt;strong&gt;Genome-wide association study identifies three loci associated with melanoma risk.&lt;/strong&gt; Nature Genet. 41: 920-925, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19578364/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19578364&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19578364[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.411&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19578364">Bishop et al. (2009)</a> reported a genomewide association study of melanoma conducted by the GenoMEL consortium based on 317,000 tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional 2 cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases and 903 controls). The genomewide screen identified 5 loci with genotypes or imputed SNPs reaching p less than 5 x 10(-7). Three of these loci were replicated: 16q24 encompassing MC1R (<a href="/entry/155555">155555</a>) (combined P = 2.54 x 10(27) for <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs258322;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs258322</a>), 11q14-q21 encompassing TYR (p = 2.41 x 10(-14) for <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1393350;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1393350</a>), and 9p21 adjacent to MTAP (<a href="/entry/156540">156540</a>) and flanking CDKN2A (<a href="/entry/600160">600160</a>) (p = 4.03 x 10(-7) for <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs7023329;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs7023329</a>) (see <a href="/entry/155601">155601</a>). MC1R and TYR are associated with pigmentation, freckling, and cutaneous sun sensitivity, well-recognized melanoma risk factors. <a href="#4" class="mim-tip-reference" title="Bishop, D. T., Demenais, F., Iles, M. M., Harland, M., Taylor, J. C., Corda, E., Randerson-Moor, J., Aitken, J. F., Avril, M.-F., Azizi, E., Bakker, B., Bianchi-Scarra, G., and 41 others. &lt;strong&gt;Genome-wide association study identifies three loci associated with melanoma risk.&lt;/strong&gt; Nature Genet. 41: 920-925, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19578364/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19578364&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19578364[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.411&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19578364">Bishop et al. (2009)</a> concluded that despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19578364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Other Disease Associations</em></strong></p><p>
For a discussion of a possible association between variation in the TYR gene and susceptibility to vitiligo, see <a href="/entry/606579">606579</a>.</p>
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<p><a href="#10" class="mim-tip-reference" title="Giebel, L. B., Spritz, R. A. &lt;strong&gt;RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR.&lt;/strong&gt; Nucleic Acids Res. 18: 3103, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1971925/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1971925&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/nar/18.10.3103-a&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1971925">Giebel and Spritz (1990)</a> estimated that the frequencies of alleles A1 and A2 were 0.48 and 0.52, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1971925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>A mutation in tyrosinase responsible for the albino mouse appears to be a change of cysteine-85 to serine (<a href="#23" class="mim-tip-reference" title="Kwon, B. S., Wakulchik, M., Haq, A. K., Halaban, R., Kestler, D. &lt;strong&gt;Sequence analysis of mouse tyrosinase cDNA and the effect of melanotropin on its gene expression.&lt;/strong&gt; Biochem. Biophys. Res. Commun. 153: 1301-1309, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3134020/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3134020&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0006-291x(88)81370-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3134020">Kwon et al., 1988</a>), resulting from a change of guanine 390 to cytosine. <a href="#15" class="mim-tip-reference" title="Jackson, I. J., Bennett, D. C. &lt;strong&gt;Identification of the albino mutation of mouse tyrosinase by analysis of an in vitro revertant.&lt;/strong&gt; Proc. Nat. Acad. Sci. 87: 7010-7014, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2119500/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2119500&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.87.18.7010&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2119500">Jackson and Bennett (1990)</a> studied revertant cells and found that loss of the mutant allele was responsible. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3134020+2119500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The zebrafish albino mutant 'sdy' is caused by mutation in the 'sandy' gene. <a href="#33" class="mim-tip-reference" title="Page-McCaw, P. S., Chung, S. C., Muto, A., Roeser, T., Staub, W., Finger-Baier, K. C., Korenbrot, J. I., Baier, H. &lt;strong&gt;Retinal network adaptation to bright light requires tyrosinase.&lt;/strong&gt; Nature Neurosci. 7: 1329-1336, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15516923/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15516923&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nn1344&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15516923">Page-McCaw et al. (2004)</a> cloned the sandy gene and determined that it encodes tyrosinase. In a complex series of experiments, the authors found that sdy mutants demonstrated impaired optokinetic behavior after a return to bright light after periods of darkness compared to wildtype. The sdy mutation compromised the ability of retinal circuits to reset sensitivity to light. The deficit was demonstrated in fully pigmented fish by inhibiting tyrosinase, indicating that the response in sdy fish was not due to the absence of melanin. The findings suggested that a tyrosinase product other than melanin was responsible, and <a href="#33" class="mim-tip-reference" title="Page-McCaw, P. S., Chung, S. C., Muto, A., Roeser, T., Staub, W., Finger-Baier, K. C., Korenbrot, J. I., Baier, H. &lt;strong&gt;Retinal network adaptation to bright light requires tyrosinase.&lt;/strong&gt; Nature Neurosci. 7: 1329-1336, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15516923/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15516923&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nn1344&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15516923">Page-McCaw et al. (2004)</a> hypothesized that the product could be dopamine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15516923" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Schmidt-Kuntzel, A., Eizirik, E., O&#x27;Brien, S. J., Menotti-Raymond, M. &lt;strong&gt;Tyrosinase and tyrosinase related protein I alleles specify domestic cat coat color phenotypes of the albino and brown loci.&lt;/strong&gt; J. Hered. 96: 289-301, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15858157/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15858157&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/jhered/esi066&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15858157">Schmidt-Kuntzel et al. (2005)</a> found that 2 nonsynonymous substitutions in the Tyr gene caused the 'siamese' and 'burmese' alleles of the albino locus, respectively, in domestic cats. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15858157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Polanowski, A. M., Robinson-Laverick, S. M., Paton, D., Jarman, S. N. &lt;strong&gt;Variation in the tyrosinase gene associated with a white humpback whale (Megaptera novaeangliae).&lt;/strong&gt; J. Hered. 103: 130-133, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22140253/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22140253&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/jhered/esr108&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22140253">Polanowski et al. (2012)</a> analyzed sequence variation in exon 1 of the Tyr gene in 66 humpback whale (Megaptera novaeangliae) samples, including that of a white humpback whale known as 'Migaloo.' They determined that Migaloo was homozygous for a cytosine deletion (264delC) at codon 88, predicted to result in a frameshift and premature termination of the protein. The truncated protein would lack both of the putative copper-binding sites and the putative transmembrane segment and would therefore have no tyrosinase enzymatic activity. The authors noted that although Migaloo's eye was not visible in any photographs, an unusual amount of pink pigmentation around his blowhole could be seen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22140253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="allelicVariants" class="mim-anchor"></a>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>38 Selected Examples</a>):</strong>
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<a href="/allelicVariants/606933" class="btn btn-default" role="button"> Table View </a>
&nbsp;&nbsp;<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606933[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
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TYR, 1-BP INS, 1012C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281865527 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865527;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs281865527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs281865527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003969 OR RCV000085980 OR RCV000623277 OR RCV003460412 OR RCV004739286 OR RCV004795370 OR RCV005003326" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003969, RCV000085980, RCV000623277, RCV003460412, RCV004739286, RCV004795370, RCV005003326" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003969...</a>
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<p>In a child with tyrosinase-negative oculocutaneous albinism (OCA1A; <a href="/entry/203100">203100</a>), <a href="#51" class="mim-tip-reference" title="Tomita, Y., Takeda, A., Okinaga, S., Tagami, H., Shibahara, S. &lt;strong&gt;Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene.&lt;/strong&gt; Biochem. Biophys. Res. Commun. 164: 990-996, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2511845/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2511845&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0006-291x(89)91767-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2511845">Tomita et al. (1989)</a> identified a homozygous 1-bp insertion (C) between nucleotides 1011 and 1012 in exon 2 of the TYR gene. The insertion shifted the reading frame and introduced a premature termination signal (TGA codon) after amino acid residue 298, resulting in a truncated enzyme lacking 1 of 2 copper-binding regions. Functional analysis indicated that the truncated tyrosinase was catalytically inactive. Both parents and 1 sib were heterozygous; their DNAs reacted with both the mutant probe and the normal probe. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2511845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IB</strong>
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ALBINISM, OCULOCUTANEOUS, TYPE IA, INCLUDED
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TYR, PRO81LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs28940876 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940876;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs28940876?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28940876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28940876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003970 OR RCV000085939 OR RCV000505170 OR RCV000599844 OR RCV000623980 OR RCV001249700 OR RCV002496249 OR RCV003387499 OR RCV003466799 OR RCV003993735" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003970, RCV000085939, RCV000505170, RCV000599844, RCV000623980, RCV001249700, RCV002496249, RCV003387499, RCV003466799, RCV003993735" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003970...</a>
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<p><strong><em>Oculocutaneous Albinism, Type 1B</em></strong></p><p>
In a patient with 'yellow' OCA (OCA1B; <a href="/entry/606952">606952</a>), <a href="#43" class="mim-tip-reference" title="Spritz, R. A., Strunk, K., King, R. A. &lt;strong&gt;Molecular analyses of the tyrosinase gene in patients with tyrosinase-deficient oculocutaneous albinism. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 45 (suppl.): A221, 1989."None>Spritz et al. (1989)</a> identified a pro81-to-leu (P81L) substitution that was predicted to interfere with the normal folding of the tyrosinase polypeptide.</p><p><strong><em>Oculocutaneous Albinism, Type 1A</em></strong></p><p>
In 6 of 30 unrelated patients with a tyrosinase-negative (type IA) oculocutaneous albinism (OCA1A; <a href="/entry/203100">203100</a>), <a href="#11" class="mim-tip-reference" title="Giebel, L. B., Strunk, K. M., Jackson, C. E., Hanifin, J. M., King, R. A., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in patients with type IB (&#x27;yellow&#x27;) oculocutaneous albinism. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 47 (suppl.): A156, 1990."None>Giebel et al. (1990)</a> observed a CCT-to-CTT change in codon 81 resulting in a substitution of leucine for proline. The codon 81 substitution abolished an HaeIII restriction site within exon 1, thus permitting rapid screening for the substitution by PCR amplification of exon 1 followed by HaeIII cleavage. <a href="#11" class="mim-tip-reference" title="Giebel, L. B., Strunk, K. M., Jackson, C. E., Hanifin, J. M., King, R. A., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in patients with type IB (&#x27;yellow&#x27;) oculocutaneous albinism. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 47 (suppl.): A156, 1990."None>Giebel et al. (1990)</a> detected the codon 81 mutation in 4 of 15 independently ascertained type I OCA probands; of their 30 OCA tyrosinase alleles, 6 contained the codon 81 mutation, yielding an overall frequency of 0.2 for this allele among these type I OCA probands. <a href="#9" class="mim-tip-reference" title="Giebel, L. B., Musarella, M. A., Spritz, R. A. &lt;strong&gt;A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.&lt;/strong&gt; J. Med. Genet. 28: 464-467, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1832718/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1832718&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.28.7.464&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1832718">Giebel et al. (1991)</a> found the pro81-to-leu mutation in compound heterozygosity in a family with type IB OCA. The other allele was the val275-to-phe mutation (<a href="#0007">606933.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1832718" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0003" class="mim-anchor"></a>
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<strong>.0003&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
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TYR, THR355LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs61754388 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61754388;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs61754388?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61754388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61754388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003973 OR RCV000085898 OR RCV000335429 OR RCV001542596 OR RCV002476920 OR RCV003150806 OR RCV003387500 OR RCV005054134" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003973, RCV000085898, RCV000335429, RCV001542596, RCV002476920, RCV003150806, RCV003387500, RCV005054134" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003973...</a>
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<p>In a woman with classic albinism (OCA1A; <a href="/entry/203100">203100</a>), <a href="#42" class="mim-tip-reference" title="Spritz, R. A., Giebel, L. B., Tripathi, R. K., Strunk, K. M. &lt;strong&gt;Structure and polymorphisms of the human tyrosinase gene and a truncated tyrosinase pseudogene. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 47 (suppl.): A117, 1990."None>Spritz et al. (1990)</a> demonstrated compound heterozygosity for 2 allelic single-base missense substitutions in the tyrosinase gene that altered codons 355 (thr-to-lys) and 365 (asp-to-asn). These substitutions would be expected to cause a severe defect of tyrosinase activity. Both result in changes of net charge, and both occur in a region of predicted helical structure within the so-called copper-binding region of the enzyme. In another numbering system, this is referred to as THR373LYS (<a href="#17" class="mim-tip-reference" title="King, R. A., Mentink, M. M., Oetting, W. S. &lt;strong&gt;Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.&lt;/strong&gt; Molec. Biol. Med. 8: 19-29, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1943686/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1943686&lt;/a&gt;]" pmid="1943686">King et al., 1991</a>). In a case of type IA oculocutaneous albinism, <a href="#30" class="mim-tip-reference" title="Oetting, W. S., Mentink, M. M., Summers, C. G., Lewis, R. A., White, J. G., King, R. A. &lt;strong&gt;Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.&lt;/strong&gt; Am. J. Hum. Genet. 49: 199-206, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1905879/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1905879&lt;/a&gt;]" pmid="1905879">Oetting et al. (1991)</a> identified a change from ACA to AAA in codon 373 resulting in substitution of lysine for threonine. Also see <a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1943686+1642278+1905879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
<h4>
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<strong>.0004&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
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TYR, ASP365ASN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs121908011 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908011;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908011?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003974 OR RCV000085903 OR RCV000680155 OR RCV000755077 OR RCV000762870 OR RCV001266635 OR RCV003230346 OR RCV003460413 OR RCV004532281 OR RCV005007814" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003974, RCV000085903, RCV000680155, RCV000755077, RCV000762870, RCV001266635, RCV003230346, RCV003460413, RCV004532281, RCV005007814" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003974...</a>
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<p>For discussion of an asp365-to-asn (D365N) mutation in the TYR gene that was found in compound heterozygous state in a patient with oculocutaneous albinism 1A (OCA1A; <a href="/entry/203100">203100</a>) by <a href="#42" class="mim-tip-reference" title="Spritz, R. A., Giebel, L. B., Tripathi, R. K., Strunk, K. M. &lt;strong&gt;Structure and polymorphisms of the human tyrosinase gene and a truncated tyrosinase pseudogene. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 47 (suppl.): A117, 1990."None>Spritz et al. (1990)</a>, see <a href="#0003">606933.0003</a>. In another numbering system this is referred to as ASP383ASN (<a href="#17" class="mim-tip-reference" title="King, R. A., Mentink, M. M., Oetting, W. S. &lt;strong&gt;Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.&lt;/strong&gt; Molec. Biol. Med. 8: 19-29, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1943686/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1943686&lt;/a&gt;]" pmid="1943686">King et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1943686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0005&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
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TYR, ARG77GLN
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&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs61753185 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61753185;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs61753185?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61753185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61753185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003975 OR RCV000085934 OR RCV000984954 OR RCV002476921 OR RCV003156054 OR RCV003466800 OR RCV004532282 OR RCV004782006" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003975, RCV000085934, RCV000984954, RCV002476921, RCV003156054, RCV003466800, RCV004532282, RCV004782006" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003975...</a>
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<p>In a Japanese patient with oculocutaneous albinism 1A (OCA1A; <a href="/entry/203100">203100</a>), <a href="#16" class="mim-tip-reference" title="Kikuchi, H., Hara, S., Ishiguro, S., Tamai, M., Watanabe, M. &lt;strong&gt;Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.&lt;/strong&gt; Hum. Genet. 85: 123-124, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2113511/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2113511&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00276337&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2113511">Kikuchi et al. (1990)</a> demonstrated a G-to-A change in nucleotide 309 of the TYR gene by enzymatic DNA amplification and direct DNA sequencing. This was thought to result in a change of arginine-77 to glutamine. Also see <a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2113511+1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0006&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IB</strong>
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TYR, PRO406LEU
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&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs104894313 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894313;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs104894313?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003976 OR RCV000085913 OR RCV000400442 OR RCV000500113 OR RCV000623187 OR RCV000762872 OR RCV001375218 OR RCV001813946 OR RCV003460414 OR RCV004532283 OR RCV004782007 OR RCV005007815" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003976, RCV000085913, RCV000400442, RCV000500113, RCV000623187, RCV000762872, RCV001375218, RCV001813946, RCV003460414, RCV004532283, RCV004782007, RCV005007815" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003976...</a>
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<p>In an Amish kindred with oculocutaneous albinism (OCA1B; <a href="/entry/606952">606952</a>) reported by <a href="#25" class="mim-tip-reference" title="Nance, W. E., Jackson, C. E., Witkop, C. J., Jr. &lt;strong&gt;Amish albinism: a distinctive autosomal recessive phenotype.&lt;/strong&gt; Am. J. Hum. Genet. 22: 579-586, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5516239/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5516239&lt;/a&gt;]" pmid="5516239">Nance et al. (1970)</a>, <a href="#11" class="mim-tip-reference" title="Giebel, L. B., Strunk, K. M., Jackson, C. E., Hanifin, J. M., King, R. A., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in patients with type IB (&#x27;yellow&#x27;) oculocutaneous albinism. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 47 (suppl.): A156, 1990."None>Giebel et al. (1990)</a> observed a substitution of leucine for proline at position 406 of the tyrosinase gene. <a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a> stated that this mutation had been found only among the Amish. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5516239+1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0007&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IB</strong>
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TYR, VAL275PHE
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&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs104894314 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894314;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs104894314?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003972 OR RCV000085973 OR RCV000192471 OR RCV000778348 OR RCV001542595 OR RCV002476919 OR RCV004532280" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003972, RCV000085973, RCV000192471, RCV000778348, RCV001542595, RCV002476919, RCV004532280" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003972...</a>
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<p>In a patient with the 'yellow' form of oculocutaneous albinism (type IB) (OCA1B; <a href="/entry/606952">606952</a>), <a href="#11" class="mim-tip-reference" title="Giebel, L. B., Strunk, K. M., Jackson, C. E., Hanifin, J. M., King, R. A., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in patients with type IB (&#x27;yellow&#x27;) oculocutaneous albinism. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 47 (suppl.): A156, 1990."None>Giebel et al. (1990)</a> found compound heterozygosity for the pro81-to-leu mutation (<a href="#0002">606933.0002</a>) and a novel val275-to-phe mutation.</p>
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<strong>.0008&nbsp;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN</strong>
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SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING, INCLUDED
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TYR, SER192TYR (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1042602;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1042602</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs1042602 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1042602;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1042602?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1042602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1042602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003977 OR RCV000055807 OR RCV000085955 OR RCV000173114 OR RCV000341159 OR RCV002226432 OR RCV003150831 OR RCV004527285 OR RCV004584138" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003977, RCV000055807, RCV000085955, RCV000173114, RCV000341159, RCV002226432, RCV003150831, RCV004527285, RCV004584138" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003977...</a>
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<p><a href="#42" class="mim-tip-reference" title="Spritz, R. A., Giebel, L. B., Tripathi, R. K., Strunk, K. M. &lt;strong&gt;Structure and polymorphisms of the human tyrosinase gene and a truncated tyrosinase pseudogene. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 47 (suppl.): A117, 1990."None>Spritz et al. (1990)</a> noted that serine versus tyrosine at position 192 of tyrosinase is a common nonpathologic polymorphism.</p><p>In a genomewide association study of skin pigmentation variation (SHEP3; <a href="/entry/601800">601800</a>) using 1,620,742 SNPs in a population of 737 individuals of South Asian ancestry living in the United Kingdom, <a href="#47" class="mim-tip-reference" title="Stokowski, R. P., Pant, P. V. K., Dadd, T., Fereday, A., Hinds, D. A., Jarman, C., Filsell, W., Ginger, R. S., Green, M. R., van der Ouderaa, F. J., Cox, D. R. &lt;strong&gt;A genomewide association study of skin pigmentation in a South Asian population.&lt;/strong&gt; Am. J. Hum. Genet. 81: 1119-1132, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17999355/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17999355&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17999355[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/522235&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17999355">Stokowski et al. (2007)</a> found association of the TYR SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1042602;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1042602</a> (S192Y) with skin pigmentation. The association was replicated in a second independent cohort of 235 individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17999355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a discovery sample of 2,986 Icelanders and replication samples of 2,718 Icelanders and 1,214 Dutch, <a href="#49" class="mim-tip-reference" title="Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., Jakobsdottir, M., Steinberg, S., and 13 others. &lt;strong&gt;Genetic determinants of hair, eye and skin pigmentation in Europeans.&lt;/strong&gt; Nature Genet. 39: 1443-1452, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17952075/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17952075&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2007.13&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17952075">Sulem et al. (2007)</a> found an association of the TYR SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1042602;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1042602</a> with freckling (discovery OR = 1.32, p = 1.5 x 10(-11)). No association was found between this SNP and skin or eye color. Based on analysis of HapMap samples, the A allele of <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1042602;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1042602</a>, associated with the absence of freckles, is found at a frequency of approximately 35% in European populations, while the ancestral C allele is fixed in Asian and Nigerian Yoruba populations. There was evidence that the A allele has been subject to positive selection in European populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17952075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
<h4>
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<strong>.0009&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IB</strong>
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ALBINISM, OCULOCUTANEOUS TYPE I, TEMPERATURE-SENSITIVE, INCLUDED<br />
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8, INCLUDED<br />
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, INCLUDED<br />
SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYES, INCLUDED
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TYR, ARG402GLN (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1126809;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1126809</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs1126809 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1126809;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1126809?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1126809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1126809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003978 OR RCV000003979 OR RCV000003980 OR RCV000003981 OR RCV000003982 OR RCV000085910 OR RCV000254054 OR RCV000500466 OR RCV000626673 OR RCV000721172 OR RCV001269379 OR RCV002226432 OR RCV003150831 OR RCV003985252 OR RCV004584139" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003978, RCV000003979, RCV000003980, RCV000003981, RCV000003982, RCV000085910, RCV000254054, RCV000500466, RCV000626673, RCV000721172, RCV001269379, RCV002226432, RCV003150831, RCV003985252, RCV004584139" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003978...</a>
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<p><a href="#14" class="mim-tip-reference" title="Hutton, S. M., Spritz, R. A. &lt;strong&gt;A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 49: 868-872, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18326704/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18326704&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1167/iovs.07-0791&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18326704">Hutton and Spritz (2008)</a> noted that the <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1126809;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1126809</a> variant encodes a tyrosinase enzyme with an arg402-to-gln (R402Q) substitution, resulting in a tyrosinase peptide that is thermolabile and subject to endoplasmic reticulum retention, yielding only 25% of the catalytic activity of the wildtype enzyme at 37 degrees C. The SNP is quite common among Caucasians, with an allele frequency of approximately 0.278. <a href="#31" class="mim-tip-reference" title="Oetting, W. S., Pietsch, J., Brott, M. J., Savage, S., Fryer, J. P., Summers, C. G., King, R. A. &lt;strong&gt;The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.&lt;/strong&gt; Am. J. Med. Genet. 149A: 466-469, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19208379/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19208379&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32654&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19208379">Oetting et al. (2009)</a> noted that the allele frequency is much lower in African Americans (0.05) and absent in the Asian population. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18326704+19208379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Oculocutaneous Albinism Type IB</em></strong></p><p>
<a href="#8" class="mim-tip-reference" title="Fukai, K., Holmes, S. A., Lucchese, N. J., Siu, V. M., Weleber, R. G., Schnur, R. E., Spritz, R. A. &lt;strong&gt;Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.&lt;/strong&gt; Nature Genet. 9: 92-95, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7704033/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7704033&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0195-92&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7704033">Fukai et al. (1995)</a> showed that a mild form of oculocutaneous albinism 1B (OCA1B; <a href="/entry/606952">606952</a>) with only ocular albinism can result from compound heterozygosity for a mutant allele of TYR and the polymorphic R402Q allele. This polymorphic allele encodes a form of tyrosinase with reduced catalytic activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7704033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Chiang, P.-W., Drautz, J. M., Tsai, A. C.-H., Spector, E., Clericuzio, C. L. &lt;strong&gt;A new hypothesis of OCA1B. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 146A: 2968-2970, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18925668/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18925668&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32539&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18925668">Chiang et al. (2008)</a> reported a Hispanic family in which 2 sibs had variable manifestations of OCA1B. A 6-year-old boy had nystagmus, decreased vision, light hair, light skin color, and foveal hypoplasia. His sister had exotropia, blonde hair, light skin color, and brown irides with no history of nystagmus, foveal hypoplasia or decreased vision. Genetic analysis identified compound heterozygosity for 2 variants in the TYR gene: G47D (<a href="#0024">606933.0024</a>) and the hypomorphic allele R402Q. Each unaffected parent was heterozygous for 1 of the variants. <a href="#5" class="mim-tip-reference" title="Chiang, P.-W., Drautz, J. M., Tsai, A. C.-H., Spector, E., Clericuzio, C. L. &lt;strong&gt;A new hypothesis of OCA1B. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 146A: 2968-2970, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18925668/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18925668&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32539&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18925668">Chiang et al. (2008)</a> postulated that the clinical spectrum of OCA depends on a pigmentation threshold of the affected individual, and that OCA is a quantitative trait disorder with phenotypic variation in individuals of different ethnic backgrounds. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18925668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 36 unrelated Caucasian patients with a clinical diagnosis of autosomal recessive ocular albinism (AROA), <a href="#14" class="mim-tip-reference" title="Hutton, S. M., Spritz, R. A. &lt;strong&gt;A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 49: 868-872, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18326704/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18326704&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1167/iovs.07-0791&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18326704">Hutton and Spritz (2008)</a> identified 20 patients who were compound heterozygous for the R402Q variant on 1 allele and for various severe OCA1 mutations on the other allele. The authors noted that this genotypic combination should occur in approximately 1 per 280 Caucasian individuals; however, the prevalence of AROA, while unknown, is certainly lower than that, indicating that the penetrance of the AROA phenotype must be very low, given a susceptible genotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18326704" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>After excluding black and Asian OCA1 patients, <a href="#6" class="mim-tip-reference" title="Chiang, P.-W., Spector, E., Tsai, A. C.-H. &lt;strong&gt;Oculocutaneous albinism spectrum. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 149A: 1590-1591, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19533789/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19533789&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32939&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19533789">Chiang et al. (2009)</a> identified 23 OCA patients in their database with 1 or 2 TYR mutations. The authors found that 10 of the 11 patients with only 1 TYR mutation were heterozygous for the R402Q allele, whereas among the 12 patients with 2 mutations in TYR, 2 were heterozygous and 1 homozygous for R402Q, and 9 did not carry the R402Q allele. <a href="#6" class="mim-tip-reference" title="Chiang, P.-W., Spector, E., Tsai, A. C.-H. &lt;strong&gt;Oculocutaneous albinism spectrum. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 149A: 1590-1591, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19533789/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19533789&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32939&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19533789">Chiang et al. (2009)</a> concluded that the R402Q allele is strongly associated with albinism patients who have only 1 mutation in TYR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19533789" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#31" class="mim-tip-reference" title="Oetting, W. S., Pietsch, J., Brott, M. J., Savage, S., Fryer, J. P., Summers, C. G., King, R. A. &lt;strong&gt;The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.&lt;/strong&gt; Am. J. Med. Genet. 149A: 466-469, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19208379/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19208379&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32654&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19208379">Oetting et al. (2009)</a> analyzed the segregation of the Q402 allele in 12 families with oculocutaneous albinism type I in which all parents were unaffected with normal visual acuity. In 9 families, 1 parent in each sibship had a pathologic mutation on 1 allele and the Q402 allele in trans, yet none had hypopigmentation or the presence of abnormal visual acuity and fovial hypoplasia. In the remaining 3 families, 2 of which were previously studied by <a href="#14" class="mim-tip-reference" title="Hutton, S. M., Spritz, R. A. &lt;strong&gt;A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 49: 868-872, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18326704/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18326704&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1167/iovs.07-0791&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18326704">Hutton and Spritz (2008)</a>, the maternal mutation was not identified: in 1 family, the unaffected mother was homozygous for Q402 and also presumably carried an unidentified pathologic mutation; in another, the normal father had a pathologic mutation on 1 allele and Q402 in trans; and in the last family, the unaffected mother carried R402 on the allele presumably containing an unidentified mutation that was passed to her child, and Q402 in trans on the untransmitted allele. <a href="#31" class="mim-tip-reference" title="Oetting, W. S., Pietsch, J., Brott, M. J., Savage, S., Fryer, J. P., Summers, C. G., King, R. A. &lt;strong&gt;The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.&lt;/strong&gt; Am. J. Med. Genet. 149A: 466-469, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19208379/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19208379&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32654&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19208379">Oetting et al. (2009)</a> concluded that the R402Q variant of TYR is not associated with autosomal recessive ocular albinism (AROA) but suggested that a causative variant may be in genetic disequilibrium with the R402Q variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19208379+18326704" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 31 Caucasian patients with 1 or 2 mutations in the TYR gene, <a href="#41" class="mim-tip-reference" title="Simeonov, D. R., Wang, X., Wang, C., Sergeev, Y., Dolinska, M., Bower, M., Fischer, R., Winer, D., Dubrovsky, G., Balog, J. Z., Huizing, M., Hart, R., Zein, W. M., Gahl, W. A., Brooks, B. P., Adams, D. R. &lt;strong&gt;DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.&lt;/strong&gt; Hum. Mutat. 34: 827-835, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23504663/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23504663&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23504663[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.22315&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23504663">Simeonov et al. (2013)</a> found that the R402Q allele was more frequent in the group with 1 mutation (50%) compared to the group with 2 mutations (10%). In 5 patients with no mutation in TYR who did not have paired trans-mutation in another OCA gene, they found that 40% of alleles had R402Q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23504663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Morell, R., Spritz, R. A., Ho, L., Pierpont, J., Guo, W., Friedman, T. B., Asher, J. H., Jr. &lt;strong&gt;Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).&lt;/strong&gt; Hum. Molec. Genet. 6: 659-664, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9158138/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9158138&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/6.5.659&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9158138">Morell et al. (1997)</a> found that the family reported by <a href="#1" class="mim-tip-reference" title="Bard, L. A. &lt;strong&gt;Heterogeneity in Waardenburg&#x27;s syndrome: report of a family with ocular albinism.&lt;/strong&gt; Arch. Ophthal. 96: 1193-1198, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/666627/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;666627&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archopht.1978.03910060027006&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="666627">Bard (1978)</a> with a combination of congenital deafness and ocular albinism had a syndrome apparently due to digenic inheritance. Affected individuals had features consistent with Waardenburg syndrome type 2 (WS2A; <a href="/entry/193510">193510</a>) and ocular albinism; they were heterozygous for a 1-bp deletion in the MITF gene (<a href="/entry/156845#0005">156845.0005</a>) and homozygous or heterozygous for the R402Q mutation. The transcription factor MITF regulates the expression of the TYR gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=666627+9158138" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Temperature-Sensitive Oculocutaneous Albinism</em></strong></p><p>
In an unusual subset of oculocutaneous albinism type I, designated OCA1-TS (see <a href="/entry/606952">606952</a>), mutations in the TYR gene render tyrosinase temperature-sensitive (ts). Consequently, melanin synthesis occurs only in cooler areas of the body, such as the arms and legs. The resultant pattern of peripheral pigmentation is analogous to that of the Siamese cat and the Himalayan mouse. Both the R402Q variant and the similar but less prevalent R422Q variant (<a href="#0012">606933.0012</a>) are temperature-sensitive. The R402Q variant represents approximately 15% of the gene pool among Caucasians (<a href="#19" class="mim-tip-reference" title="King, R. A., Townsend, D., Oetting, W., Summers, C. G., Olds, D. P., White, J. G., Spritz, R. A. &lt;strong&gt;Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.&lt;/strong&gt; J. Clin. Invest. 87: 1046-1053, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1900307/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1900307&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI115064&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1900307">King et al., 1991</a>). <a href="#3" class="mim-tip-reference" title="Berson, J. F., Frank, D. W., Calvo, P. A., Bieler, B. M., Marks, M. S. &lt;strong&gt;A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature.&lt;/strong&gt; J. Biol. Chem. 275: 12281-12289, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10766867/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10766867&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1074/jbc.275.16.12281&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10766867">Berson et al. (2000)</a> analyzed the localization and processing of the R402Q variant and showed that the ts phenotype is due to a defect in protein folding that prevents exit from the endoplasmic reticulum (ER). The partial ts phenotype of a wildtype allelic form of tyrosinase and the lack of an apparent significant increase in ER-associated degradation of the R402Q variant suggested that it exaggerates an inefficient folding process inherent in human tyrosinase when expressed in nonmelanogenic cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1900307+10766867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Variation in Skin/Hair/Eye Pigmentation</em></strong></p><p>
In a genomewide association study using Icelandic and Dutch population samples, <a href="#49" class="mim-tip-reference" title="Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., Jakobsdottir, M., Steinberg, S., and 13 others. &lt;strong&gt;Genetic determinants of hair, eye and skin pigmentation in Europeans.&lt;/strong&gt; Nature Genet. 39: 1443-1452, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17952075/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17952075&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2007.13&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17952075">Sulem et al. (2007)</a> found an association of the TYR SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1042602;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1042602</a> (S192Y; <a href="#0008">606933.0008</a>) with freckling (SHEP3; <a href="/entry/601800">601800</a>). They also found strong correlation (r(2) = 0.86) of the TYR SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1393350;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1393350</a> with the TYR SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1126809;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1126809</a> (R402Q). <a href="#48" class="mim-tip-reference" title="Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Jakobsdottir, M., Steinberg, S., Gudjonsson, S. A., Palsson, A., Thorleifsson, G., Palsson, S., Sigurgeirsson, B., and 13 others. &lt;strong&gt;Two newly identified genetic determinants of pigmentation in Europeans.&lt;/strong&gt; Nature Genet. 40: 835-837, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18488028/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18488028&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.160&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18488028">Sulem et al. (2008)</a> presented results from a genomewide association study for variants associated with human pigmentation characteristics among 5,130 Icelanders, with follow-up analyses in 2,116 Icelanders and 1,214 Dutch individuals. The <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1126809;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1126809</a> R402Q variant showed genomewide significance for association with skin sensitivity to sun (p = 7.1 x 10(-13)) and blue versus green eye color (p = 4.6 x 10(-21)). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17952075+18488028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Susceptibility to Cutaneous Malignant Melanoma</em></strong></p><p>
In a study of the effect of pigmentation-associated genetic sequence variants on risk of cutaneous melanoma (see <a href="/entry/601800">601800</a>) and basal cell carcinoma, <a href="#13" class="mim-tip-reference" title="Gudbjartsson, D. F., Sulem, P., Stacey, S. N., Goldstein, A. M., Rafner, T., Sigurgeirsson, B., Benediktsdottir, K. R., Thorisdottir, K., Ragnarsson, R., Sveinsdottir, S. G., Magnusson, V., Lindblom, A., and 26 others. &lt;strong&gt;ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.&lt;/strong&gt; Nature Genet. 40: 886-891, 2008. Note: Erratum: Nature Genet. 40: 1029 only, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18488027/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18488027&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.161&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18488027">Gudbjartsson et al. (2008)</a> found that the R402Q variant of TYR, previously shown to affect eye color and tanning response, conferred risk of cutaneous melanoma (odds ratio = 1.21, p = 2.8 x 10(-7)) and basal cell carcinoma (odds ratio = 1.14, p = 6.1 x 10(-4)). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18488027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
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TYR, ARG59GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs61753185 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61753185;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs61753185?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61753185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61753185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003975 OR RCV000085934 OR RCV000984954 OR RCV002476921 OR RCV003156054 OR RCV003466800 OR RCV004532282 OR RCV004782006" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003975, RCV000085934, RCV000984954, RCV002476921, RCV003156054, RCV003466800, RCV004532282, RCV004782006" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003975...</a>
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<p>In a case of tyrosinase-negative oculocutaneous albinism (OCA1A; <a href="/entry/203100">203100</a>), <a href="#50" class="mim-tip-reference" title="Takeda, A., Tomita, Y., Matsunaga, J., Tagami, H., Shibahara, S. &lt;strong&gt;Molecular basis of tyrosinase-negative oculocutaneous albinism: a single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59.&lt;/strong&gt; J. Biol. Chem. 265: 17792-17797, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2120217/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2120217&lt;/a&gt;]" pmid="2120217">Takeda et al. (1990)</a> found a G-to-A transition at nucleotide 312 in exon 1 causing an arg(CGG)-to-gln(CAG) substitution at amino acid 59. The base change eliminated 1 MspI site and created a new BstNI site valuable for screening other OCA patients and heterozygous carriers. The patient was homozygous for the arg59-to-gln mutation. Heterozygotes in the family were phenotypically normal. Transfection of the mutant gene failed to give rise to detectable tyrosinase activity in transient expression assays. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2120217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
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TYR, CYS89ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs28940877 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940877;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs28940877?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28940877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28940877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003984 OR RCV000085941 OR RCV000626678" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003984, RCV000085941, RCV000626678" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003984...</a>
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<p>In an American black with classic, tyrosinase-negative oculocutaneous albinism (OCA1A; <a href="/entry/203100">203100</a>), <a href="#44" class="mim-tip-reference" title="Spritz, R. A., Strunk, K. M., Hsieh, C.-L., Sekhon, G. S., Francke, U. &lt;strong&gt;Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.&lt;/strong&gt; Am. J. Hum. Genet. 48: 318-324, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1899321/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1899321&lt;/a&gt;]" pmid="1899321">Spritz et al. (1991)</a> identified substitution of arginine for cysteine at codon 89. The subject was homozygous for a TGC-to-CGC transition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1899321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012&nbsp;ALBINISM, OCULOCUTANEOUS TYPE I, TEMPERATURE-SENSITIVE</strong>
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TYR, ARG422GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs61754393 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61754393;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs61754393?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61754393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61754393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003985 OR RCV000085916 OR RCV003238721 OR RCV003460415 OR RCV004739287 OR RCV004795371" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003985, RCV000085916, RCV003238721, RCV003460415, RCV004739287, RCV004795371" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003985...</a>
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<p>King et al. (<a href="#18" class="mim-tip-reference" title="King, R. A., Townsend, D., Oetting, W. S., Spritz, R. A. &lt;strong&gt;An unusual pigment pattern in type I oculocutaneous albinism (OCA) resulting from a temperature-sensitive enzyme. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 45 (suppl.): A8, 1989."None>1989</a>, <a href="#17" class="mim-tip-reference" title="King, R. A., Mentink, M. M., Oetting, W. S. &lt;strong&gt;Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.&lt;/strong&gt; Molec. Biol. Med. 8: 19-29, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1943686/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1943686&lt;/a&gt;]" pmid="1943686">1991</a>) described a temperature-sensitive abnormality of tyrosinase resulting in oculocutaneous albinism (<a href="/entry/606952">606952</a>). At age 29 years, the proband showed white axillary hair, scalp hair that was white with a yellow tint, pubic hair that was dark yellow to light brown, hair on the arm that was reddish blond, and hair on the leg that was dark brown. No ocular pigment was present. Analysis of the pedigree suggested that the index case and her similarly affected brother were genetic compounds. This is the human equivalent of the temperature-related forms of albinism seen in the Siamese cat and the Himalayan mouse. <a href="#9" class="mim-tip-reference" title="Giebel, L. B., Musarella, M. A., Spritz, R. A. &lt;strong&gt;A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.&lt;/strong&gt; J. Med. Genet. 28: 464-467, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1832718/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1832718&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.28.7.464&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1832718">Giebel et al. (1991)</a> reported the Himalayan phenomenon in humans, i.e., peripheral pigmentation in oculocutaneous albinism associated with temperature-sensitive tyrosinase. In a patient with type I OCA in which hypopigmentation was related to local body temperature, <a href="#9" class="mim-tip-reference" title="Giebel, L. B., Musarella, M. A., Spritz, R. A. &lt;strong&gt;A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.&lt;/strong&gt; J. Med. Genet. 28: 464-467, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1832718/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1832718&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.28.7.464&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1832718">Giebel et al. (1991)</a> found that CGG (arg) at codon 422 in tyrosinase was converted to CAG (gln). The proband and her 2 affected brothers completely lacked melanin pigment at birth but after puberty developed slight pigmentation of facial and pubic hair and extensive pigmentation in relatively cool parts such as the hair of the arms and legs. <a href="#20" class="mim-tip-reference" title="Kwon, B. S., Halaban, R., Chintamaneni, C. &lt;strong&gt;Molecular basis of mouse Himalayan mutation.&lt;/strong&gt; Biochem. Biophys. Res. Commun. 161: 252-260, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2567165/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2567165&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0006-291x(89)91588-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2567165">Kwon et al. (1989)</a> showed that the temperature-sensitive tyrosinase in the Himalayan mouse is due to a his420-to-arg mutation, only 2 amino acids away from the human codon 422 substitution described by <a href="#9" class="mim-tip-reference" title="Giebel, L. B., Musarella, M. A., Spritz, R. A. &lt;strong&gt;A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.&lt;/strong&gt; J. Med. Genet. 28: 464-467, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1832718/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1832718&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.28.7.464&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1832718">Giebel et al. (1991)</a>. By in vitro mutagenesis and introduction of the codon 422 mutation into HeLa cells, <a href="#9" class="mim-tip-reference" title="Giebel, L. B., Musarella, M. A., Spritz, R. A. &lt;strong&gt;A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.&lt;/strong&gt; J. Med. Genet. 28: 464-467, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1832718/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1832718&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.28.7.464&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1832718">Giebel et al. (1991)</a> demonstrated that the codon 422 substitution resulted in thermosensitivity of tyrosinase; tyrosinase activity was 28% of normal in cells cultured at 31 degrees C and only 1.4% of normal in cells cultured at 37 degrees C. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1943686+2567165+1832718" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0013" class="mim-anchor"></a>
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<strong>.0013&nbsp;RECLASSIFIED - TYROSINASE POLYMORPHISM</strong>
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TYR, -199C-A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs1799989 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1799989;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1799989?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1799989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1799989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003986 OR RCV000085882" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003986, RCV000085882" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003986...</a>
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<p>This variant, formerly titled ALBINISM, OCULOCUTANEOUS, TYPE IA, has been reclassified as a polymorphism based on the report by <a href="#28" class="mim-tip-reference" title="Oetting, W. S., King, R. A. &lt;strong&gt;Molecular basis of type I (tryrosinase (sic)-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.&lt;/strong&gt; Hum. Mutat. 2: 1-6, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8477259/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8477259&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.1380020102&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8477259">Oetting and King (1993)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8477259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Oetting, W. S., King, R. A. &lt;strong&gt;Mutations within the promoter region of the tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. (Abstract)&lt;/strong&gt; Clin. Res. 39: 267A, 1991."None>Oetting and King (1991)</a> reported a mutation in the CCAAT box associated with tyrosinase-negative OCA (<a href="/entry/203100">203100</a>). The proband was a genetic compound: one allele had a C-to-A substitution at -199 that changed CCAATTC to CCAATTA. The other chromosome carried a G-to-A substitution in codon 55 of exon 1, changing a cysteine to tyrosine. Subsequently, <a href="#28" class="mim-tip-reference" title="Oetting, W. S., King, R. A. &lt;strong&gt;Molecular basis of type I (tryrosinase (sic)-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.&lt;/strong&gt; Hum. Mutat. 2: 1-6, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8477259/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8477259&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.1380020102&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8477259">Oetting and King (1993)</a> determined that this variant is a polymorphism in all racial groups. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8477259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0014" class="mim-anchor"></a>
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<strong>.0014&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
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TYR, TRP178TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs61754360 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61754360;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs61754360?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61754360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61754360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003987 OR RCV000085953" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003987, RCV000085953" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003987...</a>
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<p>In 2 sibs of Afghan ethnic origin, offspring of first-cousin parents, with oculocutaneous albinism (OCA1A; <a href="/entry/203100">203100</a>), <a href="#9" class="mim-tip-reference" title="Giebel, L. B., Musarella, M. A., Spritz, R. A. &lt;strong&gt;A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.&lt;/strong&gt; J. Med. Genet. 28: 464-467, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1832718/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1832718&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.28.7.464&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1832718">Giebel et al. (1991)</a> found an amber nonsense mutation at codon 178 which converted tryptophan to stop. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1832718" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0015" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0015&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
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</h4>
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TYR, GLY191ASP
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</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs61754361 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61754361;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs61754361?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61754361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61754361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003988 OR RCV000085954 OR RCV003460782 OR RCV004739351 OR RCV005003464" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003988, RCV000085954, RCV003460782, RCV004739351, RCV005003464" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003988...</a>
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<p>In 2 unrelated patients with type IA oculocutaneous albinism (OCA1A; <a href="/entry/203100">203100</a>), <a href="#30" class="mim-tip-reference" title="Oetting, W. S., Mentink, M. M., Summers, C. G., Lewis, R. A., White, J. G., King, R. A. &lt;strong&gt;Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.&lt;/strong&gt; Am. J. Hum. Genet. 49: 199-206, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1905879/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1905879&lt;/a&gt;]" pmid="1905879">Oetting et al. (1991)</a> found deletion of a guanine from codon 191 causing substitution of asparagine for glycine and resulting in a frameshift and a premature termination signal at codon 225. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1905879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
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<a id="0016" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0016&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
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</h4>
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<div style="float: left;">
TYR, ASN382LYS
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</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs104894315 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894315;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs104894315?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003989 OR RCV000085902 OR RCV003460416 OR RCV005007816" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003989, RCV000085902, RCV003460416, RCV005007816" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003989...</a>
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<p>In a case of type IA oculocutaneous albinism (OCA1A; <a href="/entry/203100">203100</a>), <a href="#30" class="mim-tip-reference" title="Oetting, W. S., Mentink, M. M., Summers, C. G., Lewis, R. A., White, J. G., King, R. A. &lt;strong&gt;Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.&lt;/strong&gt; Am. J. Hum. Genet. 49: 199-206, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1905879/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1905879&lt;/a&gt;]" pmid="1905879">Oetting et al. (1991)</a> found a change in codon 382 from AAC to AAA resulting in substitution of lysine for asparagine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1905879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
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<a id="0017" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0017&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
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</h4>
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TYR, 2-BP DEL, TG, CODONS 244,245
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&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs61754368 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61754368;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs61754368?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61754368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61754368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003990 OR RCV000085968 OR RCV003460417 OR RCV004739288 OR RCV005007817" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003990, RCV000085968, RCV003460417, RCV004739288, RCV005007817" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003990...</a>
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<span class="mim-text-font">
<p>In a case of type IA oculocutaneous albinism (OCA1A; <a href="/entry/203100">203100</a>), <a href="#30" class="mim-tip-reference" title="Oetting, W. S., Mentink, M. M., Summers, C. G., Lewis, R. A., White, J. G., King, R. A. &lt;strong&gt;Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.&lt;/strong&gt; Am. J. Hum. Genet. 49: 199-206, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1905879/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1905879&lt;/a&gt;]" pmid="1905879">Oetting et al. (1991)</a> found deletion of a TG dinucleotide from codons 244 and 245 converting TGTGAC to TGAC and leading to premature termination at the TGA signal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1905879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
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<br />
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<div>
<a id="0018" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0018&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
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</h4>
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<span class="mim-text-font">
<div style="float: left;">
TYR, MET96ASN
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</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs61753190 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61753190;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs61753190?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61753190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61753190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003991 OR RCV000085942 OR RCV001813947 OR RCV003460418" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003991, RCV000085942, RCV001813947, RCV003460418" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003991...</a>
</span>
</div>
<div>
<span class="mim-text-font">
<p>In a case of type IA oculocutaneous albinism (OCA1A; <a href="/entry/203100">203100</a>), <a href="#30" class="mim-tip-reference" title="Oetting, W. S., Mentink, M. M., Summers, C. G., Lewis, R. A., White, J. G., King, R. A. &lt;strong&gt;Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.&lt;/strong&gt; Am. J. Hum. Genet. 49: 199-206, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1905879/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1905879&lt;/a&gt;]" pmid="1905879">Oetting et al. (1991)</a> found a change in codon 96 from ATG (met) to AAT (asn) due to the insertion of an adenine. This caused a frameshift and a premature termination signal at codon 168. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1905879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
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<br />
</div>
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<div>
<a id="0019" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0019&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
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<span class="mim-text-font">
<div style="float: left;">
TYR, ASP42GLY
</div>
</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28940878 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940878;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28940878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28940878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003992 OR RCV000085915" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003992, RCV000085915" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003992...</a>
</span>
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<div>
<span class="mim-text-font">
<p>In a patient with type IA OCA (OCA1A; <a href="/entry/203100">203100</a>), <a href="#17" class="mim-tip-reference" title="King, R. A., Mentink, M. M., Oetting, W. S. &lt;strong&gt;Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.&lt;/strong&gt; Molec. Biol. Med. 8: 19-29, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1943686/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1943686&lt;/a&gt;]" pmid="1943686">King et al. (1991)</a> found a GAC-to-GGC change at codon 42 resulting in substitution of glycine for aspartic acid. See <a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a> for the GAC(asp)-to-GGC(gly) mutation at codon 42. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1943686+1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<a id="0020" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0020&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
<div style="float: left;">
TYR, CYS55TYR
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</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs28940879 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940879;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs28940879?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28940879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28940879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003993 OR RCV000085930 OR RCV000763288 OR RCV000778345 OR RCV002288461 OR RCV003466801 OR RCV004795372 OR RCV005003327" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003993, RCV000085930, RCV000763288, RCV000778345, RCV002288461, RCV003466801, RCV004795372, RCV005003327" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003993...</a>
</span>
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<div>
<span class="mim-text-font">
<p>In a patient with type IA OCA (OCA1A; <a href="/entry/203100">203100</a>), <a href="#17" class="mim-tip-reference" title="King, R. A., Mentink, M. M., Oetting, W. S. &lt;strong&gt;Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.&lt;/strong&gt; Molec. Biol. Med. 8: 19-29, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1943686/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1943686&lt;/a&gt;]" pmid="1943686">King et al. (1991)</a> found a TGT-to-TAT change at codon 55 resulting in substitution of tyrosine for cysteine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1943686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
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<a id="0021" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0021&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
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TYR, ALA206THR
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&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs28940880 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940880;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs28940880?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28940880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28940880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003994 OR RCV000085958 OR RCV003460419" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003994, RCV000085958, RCV003460419" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003994...</a>
</span>
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<span class="mim-text-font">
<p>In a patient with type IA OCA (OCA1A; <a href="/entry/203100">203100</a>), <a href="#17" class="mim-tip-reference" title="King, R. A., Mentink, M. M., Oetting, W. S. &lt;strong&gt;Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.&lt;/strong&gt; Molec. Biol. Med. 8: 19-29, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1943686/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1943686&lt;/a&gt;]" pmid="1943686">King et al. (1991)</a> found a GCT-to-ACT change at codon 206 resulting in substitution of threonine for alanine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1943686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
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<a id="0022" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0022&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
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TYR, GLY419ARG
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</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs61754392 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61754392;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs61754392?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61754392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61754392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003995 OR RCV000085914 OR RCV000755080 OR RCV001554298 OR RCV002490305 OR RCV003460420" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003995, RCV000085914, RCV000755080, RCV001554298, RCV002490305, RCV003460420" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003995...</a>
</span>
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<div>
<span class="mim-text-font">
<p>In a patient with type IA OCA (OCA1A; <a href="/entry/203100">203100</a>), <a href="#17" class="mim-tip-reference" title="King, R. A., Mentink, M. M., Oetting, W. S. &lt;strong&gt;Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.&lt;/strong&gt; Molec. Biol. Med. 8: 19-29, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1943686/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1943686&lt;/a&gt;]" pmid="1943686">King et al. (1991)</a> found a GGA-to-AGA change at codon 419 resulting in substitution of arginine for glycine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1943686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0023" class="mim-anchor"></a>
<h4>
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<strong>.0023&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
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TYR, PRO21SER
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&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs61753178 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61753178;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs61753178?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61753178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61753178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003996 OR RCV000085959 OR RCV004566679 OR RCV004783717 OR RCV005003328" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003996, RCV000085959, RCV004566679, RCV004783717, RCV005003328" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003996...</a>
</span>
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<div>
<span class="mim-text-font">
<p>In a Caucasian girl with type IA OCA (OCA1A; <a href="/entry/203100">203100</a>) <a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a> identified a CCT(pro)-to-TCT(ser) mutation at codon 21 of the TYR gene, resulting in a pro21-to-ser (P21S) substitution. The P21S mutation was found in compound heterozygosity with a 1-bp deletion (CTT to CT) (<a href="#0029">606933.0029</a>) in codon 388, which created a frameshift. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
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<a id="0024" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0024&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
ALBINISM, OCULOCUTANEOUS, TYPE IB, INCLUDED
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<div style="float: left;">
TYR, GLY47ASP
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&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs61753180 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61753180;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs61753180?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61753180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61753180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003997 OR RCV000003998 OR RCV000085925 OR RCV000763287 OR RCV001267064 OR RCV003460421 OR RCV004532284 OR RCV005007818" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003997, RCV000003998, RCV000085925, RCV000763287, RCV001267064, RCV003460421, RCV004532284, RCV005007818" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003997...</a>
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<div>
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<p>See <a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a> for the GGC(gly)-to-GAC(asp) mutation at codon 47. <a href="#32" class="mim-tip-reference" title="Oetting, W. S., Witkop, C. J., Jr., Brown, S. A., Colomer, R., Fryer, J. P., Bloom, K. E., King, R. A. &lt;strong&gt;A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.&lt;/strong&gt; Am. J. Hum. Genet. 52: 17-23, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8434585/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8434585&lt;/a&gt;]" pmid="8434585">Oetting et al. (1993)</a> found this mutation to be frequent among albinos in Puerto Rico. They found the G47D mutation in homozygous state in 9 of 12 unrelated Puerto Ricans with type IA oculocutaneous albinism (OCA1A; <a href="/entry/203100">203100</a>). Two other individuals were heterozygous for the mutation; 1 of these had the T373K mutation (<a href="#0003">606933.0003</a>) in the homologous allele. One of the individuals with Negroid features was homozygous for a W236X mutation (<a href="#0035">606933.0035</a>). Because of the migration between Puerto Rico and the Canary Islands, 3 persons with OCA from the Canary Islands were analyzed. One was a genetic compound for the G47D mutation and a novel L216M mutation (<a href="#0036">606933.0036</a>), one was homozygous for the P81L mutation (<a href="#0002">606933.0002</a>), and one was heterozygous for the P81L mutation. Haplotype analysis in the Puerto Rican cases showed that the G47D mutation occurred on a single haplotype, consistent with a common ancestor for all individuals having this mutation. Two different haplotypes were found associated with the P81L mutation, suggesting that this may be either a recurring mutation for the tyrosinase gene or a recombination between haplotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8434585+1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Chiang, P.-W., Drautz, J. M., Tsai, A. C.-H., Spector, E., Clericuzio, C. L. &lt;strong&gt;A new hypothesis of OCA1B. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 146A: 2968-2970, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18925668/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18925668&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32539&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18925668">Chiang et al. (2008)</a> reported a Hispanic family in which 2 sibs had variable manifestations of OCA1B (<a href="/entry/606952">606952</a>). A 6-year-old boy had nystagmus, decreased vision, light hair, light skin color, and foveal hypoplasia. His sister had exotropia, blonde hair, light skin color, and brown irides with no history of nystagmus, foveal hypoplasia or decreased vision. Genetic analysis identified compound heterozygosity for 2 variants in the TYR gene: G47D and the hypomorphic allele R402Q (<a href="#0009">606933.0009</a>). Each unaffected parent was heterozygous for 1 of the variants. <a href="#5" class="mim-tip-reference" title="Chiang, P.-W., Drautz, J. M., Tsai, A. C.-H., Spector, E., Clericuzio, C. L. &lt;strong&gt;A new hypothesis of OCA1B. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 146A: 2968-2970, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18925668/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18925668&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32539&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18925668">Chiang et al. (2008)</a> postulated that the clinical spectrum of OCA depends on a pigmentation threshold of the affected individual, and that OCA is a quantitative trait disorder with phenotypic variation in individuals of different ethnic backgrounds. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18925668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<a id="0025" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0025&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
<div style="float: left;">
TYR, ARG217TRP
</div>
</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs63159160 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63159160;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs63159160?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63159160" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63159160" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003999 OR RCV000085962 OR RCV000755070 OR RCV000763290 OR RCV001332387 OR RCV003460422 OR RCV004795373 OR RCV005003329" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003999, RCV000085962, RCV000755070, RCV000763290, RCV001332387, RCV003460422, RCV004795373, RCV005003329" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003999...</a>
</span>
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<div>
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<p>See <a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a> for the CGG(arg)-to-TGG(trp) mutation at codon 217 found in patients with oculocutaneous albinism type 1A (OCA1A; <a href="/entry/203100">203100</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
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</div>
</div>
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<div>
<a id="0026" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0026&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
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<div>
<span class="mim-text-font">
<div style="float: left;">
TYR, ARG299HIS
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</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs61754375 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61754375;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs61754375?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61754375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61754375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004000 OR RCV000085979 OR RCV000755072 OR RCV003156055 OR RCV003460423 OR RCV003488321 OR RCV003492282 OR RCV005007819" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004000, RCV000085979, RCV000755072, RCV003156055, RCV003460423, RCV003488321, RCV003492282, RCV005007819" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004000...</a>
</span>
</div>
<div>
<span class="mim-text-font">
<p>See <a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a> for the CGT(arg)-to-CAT(his) mutation at codon 299 found in patients with oculocutaneous albinism type 1A (OCA1A; <a href="/entry/203100">203100</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<a id="0027" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0027&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
<div style="float: left;">
TYR, 1-BP INS, C, CODON 310
</div>
</span>
&nbsp;&nbsp;
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003969 OR RCV000085980 OR RCV000623277 OR RCV003460412 OR RCV004739286 OR RCV004795370 OR RCV005003326" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003969, RCV000085980, RCV000623277, RCV003460412, RCV004739286, RCV004795370, RCV005003326" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003969...</a>
</span>
</div>
<div>
<span class="mim-text-font">
<p>See <a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a> for the frameshift mutation in codon 310, converting CCA (pro) to CCCA, in patients with oculocutaneous albinism type 1A (OCA1A; <a href="/entry/203100">203100</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<a id="0028" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0028&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
<div style="float: left;">
TYR, ASN371THR
</div>
</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs61754387 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61754387;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs61754387?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61754387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61754387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004002 OR RCV000085897 OR RCV004526588 OR RCV004739289 OR RCV005007820" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004002, RCV000085897, RCV004526588, RCV004739289, RCV005007820" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004002...</a>
</span>
</div>
<div>
<span class="mim-text-font">
<p><a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a> described an AAT-to-ACT transversion converting asparagine-371 to threonine found in patients with oculocutaneous albinism type 1A (OCA1A; <a href="/entry/203100">203100</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<a id="0029" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0029&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
<div style="float: left;">
TYR, 1-BP DEL, T, CODON 388
</div>
</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281865522 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865522;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs281865522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs281865522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004003 OR RCV000085905 OR RCV005003330" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004003, RCV000085905, RCV005003330" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004003...</a>
</span>
</div>
<div>
<span class="mim-text-font">
<p>For discussion of a 1-bp deletion in codon 388 of the TYR gene that was found in compound heterozygous state in a patient with oculocutaneous albinism type 1A (OCA1A; <a href="/entry/203100">203100</a>) by <a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a>, see <a href="/entry/203100#0023">203100.0023</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<a id="0030" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0030&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
<div style="float: left;">
TYR, ARG403SER
</div>
</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs104894316 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894316;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs104894316?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004004 OR RCV000085911 OR RCV003387715 OR RCV003466802 OR RCV005007821" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004004, RCV000085911, RCV003387715, RCV003466802, RCV005007821" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004004...</a>
</span>
</div>
<div>
<span class="mim-text-font">
<p>See <a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a> for the AGG (arg)-to-AGT (ser) mutation in codon 403. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<a id="0031" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0031&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
<div style="float: left;">
TYR, GLY446SER
</div>
</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs104894317 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894317;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs104894317?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894317" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894317" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004005 OR RCV000085920 OR RCV000602413 OR RCV002496250 OR RCV003325937 OR RCV003466803 OR RCV004540988" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004005, RCV000085920, RCV000602413, RCV002496250, RCV003325937, RCV003466803, RCV004540988" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004005...</a>
</span>
</div>
<div>
<span class="mim-text-font">
<p>See <a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a> for the GGC(gly)-to-AGC(ser) mutation in codon 446. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<a id="0032" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0032&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
<div style="float: left;">
TYR, ASP448ASN
</div>
</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs104894318 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894318;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs104894318?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004006 OR RCV000085921 OR RCV004566680 OR RCV005003331" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004006, RCV000085921, RCV004566680, RCV005003331" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004006...</a>
</span>
</div>
<div>
<span class="mim-text-font">
<p>See <a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a> for the GAC(asp)-to-AAC(asn) mutation in codon 448. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<a id="0033" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0033&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
<div style="float: left;">
TYR, THR489FS, 1-BP INS
</div>
</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs61754399 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61754399;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61754399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61754399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004007 OR RCV000085926 OR RCV002496251 OR RCV003225016 OR RCV003466804 OR RCV004739290 OR RCV004782008" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004007, RCV000085926, RCV002496251, RCV003225016, RCV003466804, RCV004739290, RCV004782008" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004007...</a>
</span>
</div>
<div>
<span class="mim-text-font">
<p>See <a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a> for the 1-bp insertion converting codon 489 from ACT(thr) to ACTT and creating a frameshift. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<a id="0034" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0034&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
<div style="float: left;">
TYR, 1-BP INS, C, CODON 501
</div>
</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281865328 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865328;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs281865328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs281865328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004008 OR RCV000085928" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004008, RCV000085928" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004008...</a>
</span>
</div>
<div>
<span class="mim-text-font">
<p>See <a href="#52" class="mim-tip-reference" title="Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A. &lt;strong&gt;Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.&lt;/strong&gt; Am. J. Med. Genet. 43: 865-871, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642278/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642278&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642278">Tripathi et al. (1992)</a> for the 1-bp insertion converting codon 501 from CGT(arg) to CCGT and creating a frameshift. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<a id="0035" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0035&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
<div style="float: left;">
TYR, TRP236TER
</div>
</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs61754367 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61754367;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61754367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61754367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004009 OR RCV000085966" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004009, RCV000085966" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004009...</a>
</span>
</div>
<div>
<span class="mim-text-font">
<p>Among 12 unrelated Puerto Rican individuals with OCA IA (<a href="/entry/203100">203100</a>) in Puerto Rico, <a href="#32" class="mim-tip-reference" title="Oetting, W. S., Witkop, C. J., Jr., Brown, S. A., Colomer, R., Fryer, J. P., Bloom, K. E., King, R. A. &lt;strong&gt;A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.&lt;/strong&gt; Am. J. Hum. Genet. 52: 17-23, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8434585/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8434585&lt;/a&gt;]" pmid="8434585">Oetting et al. (1993)</a> found that 1 who had Negroid features was homozygous for a nonsense mutation: W236X. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8434585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<a id="0036" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0036&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
<div style="float: left;">
TYR, LEU216MET
</div>
</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs61754363 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61754363;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs61754363?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61754363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61754363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004010 OR RCV000085960 OR RCV003488322" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004010, RCV000085960, RCV003488322" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004010...</a>
</span>
</div>
<div>
<span class="mim-text-font">
<p><a href="#32" class="mim-tip-reference" title="Oetting, W. S., Witkop, C. J., Jr., Brown, S. A., Colomer, R., Fryer, J. P., Bloom, K. E., King, R. A. &lt;strong&gt;A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.&lt;/strong&gt; Am. J. Hum. Genet. 52: 17-23, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8434585/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8434585&lt;/a&gt;]" pmid="8434585">Oetting et al. (1993)</a> found that 1 of 3 individuals with OCA (<a href="/entry/203100">203100</a>) from the Canary Islands was a genetic compound for the G47D mutation (<a href="#0024">606933.0024</a>) and for a novel missense mutation, L216M. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8434585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<a id="0037" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>.0037&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IB</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
<div style="float: left;">
TYR, MET1VAL
</div>
</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs28940881 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940881;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs28940881?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28940881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28940881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004011 OR RCV000085931 OR RCV000193173 OR RCV000626675 OR RCV000626676 OR RCV000626677 OR RCV000763286 OR RCV001836693 OR RCV002466393 OR RCV004739291" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004011, RCV000085931, RCV000193173, RCV000626675, RCV000626676, RCV000626677, RCV000763286, RCV001836693, RCV002466393, RCV004739291" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004011...</a>
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<p>In an analysis of 12 unrelated patients with autosomal recessive oculocutaneous albinism type IB (<a href="/entry/606952">606952</a>), <a href="#8" class="mim-tip-reference" title="Fukai, K., Holmes, S. A., Lucchese, N. J., Siu, V. M., Weleber, R. G., Schnur, R. E., Spritz, R. A. &lt;strong&gt;Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.&lt;/strong&gt; Nature Genet. 9: 92-95, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7704033/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7704033&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0195-92&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7704033">Fukai et al. (1995)</a> found 2 patients that had abnormalities of the tyrosinase gene. Each was a compound heterozygote for a different pathologic mutant allele and an allele containing a 'normal' polymorphism, arg402-to-gln (<a href="#0009">606933.0009</a>), which resulted in a tyrosinase polypeptide with reduced thermal stability. These patients had a clinically mild form of OCA1B, with a fixed visual deficit resulting from low tyrosinase activity during fetal development but with normal pigmentation of the skin and hair postnatally. The pathologic mutation in 1 of the patients was cys55 to tyr (<a href="#0020">606933.0020</a>). The second patient was heterozygous for a novel missense substitution involving the translational initiation codon, met1 to val (ATG to GTG). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7704033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0038&nbsp;ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
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TYR, CYS91TYR (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854890;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs137854890</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs137854890 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854890;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137854890?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137854890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137854890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000033111 OR RCV002513316 OR RCV003466887" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033111, RCV002513316, RCV003466887" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033111...</a>
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<p>Among 1,281 Schmiedeleut (S-leut) Hutterites from the United States, <a href="#7" class="mim-tip-reference" title="Chong, J. X., Ouwenga, R., Anderson, R. L., Waggoner, D. J., Ober, C. &lt;strong&gt;A population-based study of autosomal-recessive disease-causing mutations in a founder population.&lt;/strong&gt; Am. J. Hum. Genet. 91: 608-620, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22981120/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22981120&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22981120[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2012.08.007&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22981120">Chong et al. (2012)</a> identified 180 heterozygotes and 3 homozygotes for a G-to-A transition at nucleotide 272 of the TYR gene, resulting in a cys-to-tyr substitution at codon 91 (C91Y). The C91Y mutation resulting in oculocutaneous albinism type IA (<a href="/entry/203100">203100</a>) was determined to be a private mutation among the Hutterites with a carrier frequency of 0.141, or 1 in 7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22981120" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Bard1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bard, L. A.
<strong>Heterogeneity in Waardenburg's syndrome: report of a family with ocular albinism.</strong>
Arch. Ophthal. 96: 1193-1198, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/666627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">666627</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=666627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archopht.1978.03910060027006" target="_blank">Full Text</a>]
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<a id="Barton1988" class="mim-anchor"></a>
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Barton, D. E., Kwon, B. S., Francke, U.
<strong>Human tyrosinase gene, mapped to chromosome 11 (q14-q21), defines second region of homology with mouse chromosome 7.</strong>
Genomics 3: 17-24, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3146546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3146546</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3146546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0888-7543(88)90153-x" target="_blank">Full Text</a>]
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<a id="Berson2000" class="mim-anchor"></a>
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Berson, J. F., Frank, D. W., Calvo, P. A., Bieler, B. M., Marks, M. S.
<strong>A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature.</strong>
J. Biol. Chem. 275: 12281-12289, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10766867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10766867</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10766867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1074/jbc.275.16.12281" target="_blank">Full Text</a>]
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<a id="Bishop2009" class="mim-anchor"></a>
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Bishop, D. T., Demenais, F., Iles, M. M., Harland, M., Taylor, J. C., Corda, E., Randerson-Moor, J., Aitken, J. F., Avril, M.-F., Azizi, E., Bakker, B., Bianchi-Scarra, G., and 41 others.
<strong>Genome-wide association study identifies three loci associated with melanoma risk.</strong>
Nature Genet. 41: 920-925, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19578364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19578364</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19578364[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19578364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.411" target="_blank">Full Text</a>]
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<a id="Chiang2008" class="mim-anchor"></a>
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Chiang, P.-W., Drautz, J. M., Tsai, A. C.-H., Spector, E., Clericuzio, C. L.
<strong>A new hypothesis of OCA1B. (Letter)</strong>
Am. J. Med. Genet. 146A: 2968-2970, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18925668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18925668</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18925668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.32539" target="_blank">Full Text</a>]
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<a id="Chiang2009" class="mim-anchor"></a>
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Chiang, P.-W., Spector, E., Tsai, A. C.-H.
<strong>Oculocutaneous albinism spectrum. (Letter)</strong>
Am. J. Med. Genet. 149A: 1590-1591, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19533789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19533789</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19533789" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.32939" target="_blank">Full Text</a>]
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<a id="Chong2012" class="mim-anchor"></a>
<div class="">
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Chong, J. X., Ouwenga, R., Anderson, R. L., Waggoner, D. J., Ober, C.
<strong>A population-based study of autosomal-recessive disease-causing mutations in a founder population.</strong>
Am. J. Hum. Genet. 91: 608-620, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22981120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22981120</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22981120[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22981120" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ajhg.2012.08.007" target="_blank">Full Text</a>]
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<a id="Fukai1995" class="mim-anchor"></a>
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Fukai, K., Holmes, S. A., Lucchese, N. J., Siu, V. M., Weleber, R. G., Schnur, R. E., Spritz, R. A.
<strong>Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.</strong>
Nature Genet. 9: 92-95, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7704033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7704033</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7704033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng0195-92" target="_blank">Full Text</a>]
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<a id="Giebel1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Giebel, L. B., Musarella, M. A., Spritz, R. A.
<strong>A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.</strong>
J. Med. Genet. 28: 464-467, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1832718/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1832718</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1832718" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.28.7.464" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
<a id="Giebel1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Giebel, L. B., Spritz, R. A.
<strong>RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR.</strong>
Nucleic Acids Res. 18: 3103, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1971925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1971925</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1971925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/nar/18.10.3103-a" target="_blank">Full Text</a>]
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<a id="Giebel1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Giebel, L. B., Strunk, K. M., Jackson, C. E., Hanifin, J. M., King, R. A., Spritz, R. A.
<strong>Tyrosinase gene mutations in patients with type IB ('yellow') oculocutaneous albinism. (Abstract)</strong>
Am. J. Hum. Genet. 47 (suppl.): A156, 1990.
</p>
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<a id="12" class="mim-anchor"></a>
<a id="Giebel1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Giebel, L. B., Strunk, K. M., Spritz, R. A.
<strong>Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment.</strong>
Genomics 9: 435-445, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1903356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1903356</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1903356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0888-7543(91)90409-8" target="_blank">Full Text</a>]
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<a id="Gudbjartsson2008" class="mim-anchor"></a>
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Gudbjartsson, D. F., Sulem, P., Stacey, S. N., Goldstein, A. M., Rafner, T., Sigurgeirsson, B., Benediktsdottir, K. R., Thorisdottir, K., Ragnarsson, R., Sveinsdottir, S. G., Magnusson, V., Lindblom, A., and 26 others.
<strong>ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.</strong>
Nature Genet. 40: 886-891, 2008. Note: Erratum: Nature Genet. 40: 1029 only, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18488027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18488027</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18488027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.161" target="_blank">Full Text</a>]
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<a id="Hutton2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hutton, S. M., Spritz, R. A.
<strong>A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.</strong>
Invest. Ophthal. Vis. Sci. 49: 868-872, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18326704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18326704</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18326704" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1167/iovs.07-0791" target="_blank">Full Text</a>]
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<a id="Jackson1990" class="mim-anchor"></a>
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Jackson, I. J., Bennett, D. C.
<strong>Identification of the albino mutation of mouse tyrosinase by analysis of an in vitro revertant.</strong>
Proc. Nat. Acad. Sci. 87: 7010-7014, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2119500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2119500</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2119500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.87.18.7010" target="_blank">Full Text</a>]
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<a id="Kikuchi1990" class="mim-anchor"></a>
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Kikuchi, H., Hara, S., Ishiguro, S., Tamai, M., Watanabe, M.
<strong>Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.</strong>
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[<a href="https://doi.org/10.1007/BF00276337" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI115064" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0006-291x(89)91588-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.84.21.7473" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/1523-1747.ep12319693" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0006-291x(88)81370-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00220074" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.1380020102" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:2&lt;99::AID-HUMU2&gt;3.0.CO;2-C" target="_blank">Full Text</a>]
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<strong>Molecular basis for the heterogeneity of human tyrosinase.</strong>
Tohoku J. Exp. Med. 156: 403-414, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2854305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2854305</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2854305" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1620/tjem.156.403" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="41" class="mim-anchor"></a>
<a id="Simeonov2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Simeonov, D. R., Wang, X., Wang, C., Sergeev, Y., Dolinska, M., Bower, M., Fischer, R., Winer, D., Dubrovsky, G., Balog, J. Z., Huizing, M., Hart, R., Zein, W. M., Gahl, W. A., Brooks, B. P., Adams, D. R.
<strong>DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.</strong>
Hum. Mutat. 34: 827-835, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23504663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23504663</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23504663[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23504663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.22315" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="42" class="mim-anchor"></a>
<a id="Spritz1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spritz, R. A., Giebel, L. B., Tripathi, R. K., Strunk, K. M.
<strong>Structure and polymorphisms of the human tyrosinase gene and a truncated tyrosinase pseudogene. (Abstract)</strong>
Am. J. Hum. Genet. 47 (suppl.): A117, 1990.
</p>
</div>
</li>
<li>
<a id="43" class="mim-anchor"></a>
<a id="Spritz1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spritz, R. A., Strunk, K., King, R. A.
<strong>Molecular analyses of the tyrosinase gene in patients with tyrosinase-deficient oculocutaneous albinism. (Abstract)</strong>
Am. J. Hum. Genet. 45 (suppl.): A221, 1989.
</p>
</div>
</li>
<li>
<a id="44" class="mim-anchor"></a>
<a id="Spritz1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spritz, R. A., Strunk, K. M., Hsieh, C.-L., Sekhon, G. S., Francke, U.
<strong>Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.</strong>
Am. J. Hum. Genet. 48: 318-324, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1899321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1899321</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1899321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="45" class="mim-anchor"></a>
<a id="Spritz1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spritz, R. A.
<strong>Molecular genetics of oculocutaneous albinism.</strong>
Hum. Molec. Genet. 3: 1469-1475, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849740</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/3.suppl_1.1469" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="46" class="mim-anchor"></a>
<a id="Spritz1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spritz, R., Strunk, K., Oetting, W., King, R.
<strong>RFLP for TaqI at the human tyrosinase locus.</strong>
Nucleic Acids Res. 16: 9890, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2903492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2903492</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2903492" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/nar/16.20.9890" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="47" class="mim-anchor"></a>
<a id="Stokowski2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Stokowski, R. P., Pant, P. V. K., Dadd, T., Fereday, A., Hinds, D. A., Jarman, C., Filsell, W., Ginger, R. S., Green, M. R., van der Ouderaa, F. J., Cox, D. R.
<strong>A genomewide association study of skin pigmentation in a South Asian population.</strong>
Am. J. Hum. Genet. 81: 1119-1132, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17999355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17999355</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17999355[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17999355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/522235" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="48" class="mim-anchor"></a>
<a id="Sulem2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Jakobsdottir, M., Steinberg, S., Gudjonsson, S. A., Palsson, A., Thorleifsson, G., Palsson, S., Sigurgeirsson, B., and 13 others.
<strong>Two newly identified genetic determinants of pigmentation in Europeans.</strong>
Nature Genet. 40: 835-837, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18488028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18488028</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18488028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.160" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="49" class="mim-anchor"></a>
<a id="Sulem2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., Jakobsdottir, M., Steinberg, S., and 13 others.
<strong>Genetic determinants of hair, eye and skin pigmentation in Europeans.</strong>
Nature Genet. 39: 1443-1452, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17952075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17952075</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17952075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.2007.13" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="50" class="mim-anchor"></a>
<a id="Takeda1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Takeda, A., Tomita, Y., Matsunaga, J., Tagami, H., Shibahara, S.
<strong>Molecular basis of tyrosinase-negative oculocutaneous albinism: a single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59.</strong>
J. Biol. Chem. 265: 17792-17797, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2120217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2120217</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2120217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="51" class="mim-anchor"></a>
<a id="Tomita1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tomita, Y., Takeda, A., Okinaga, S., Tagami, H., Shibahara, S.
<strong>Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene.</strong>
Biochem. Biophys. Res. Commun. 164: 990-996, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2511845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2511845</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2511845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0006-291x(89)91767-1" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="52" class="mim-anchor"></a>
<a id="Tripathi1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., Spritz, R. A.
<strong>Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.</strong>
Am. J. Med. Genet. 43: 865-871, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1642278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1642278</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320430523" target="_blank">Full Text</a>]
</p>
</div>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="contributors" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="mim-text-font">
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Matthew B. Gross - updated : 10/30/2017
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseContributors">
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Joanna S. Amberger - updated : 11/4/2015<br>Marla J. F. O'Neill - updated : 4/16/2013<br>Ada Hamosh - updated : 2/7/2013<br>Joanna S. Amberger - updated : 10/2/2012<br>Matthew B. Gross - updated : 12/9/2010<br>Marla J. F. O'Neill - updated : 8/27/2010<br>Marla J. F. O'Neill - updated : 12/4/2009<br>Marla J. F. O'Neill - updated : 10/30/2009<br>Ada Hamosh - updated : 9/16/2009<br>Cassandra L. Kniffin - updated : 3/3/2009<br>Ada Hamosh - updated : 9/24/2008<br>Ada Hamosh - updated : 8/6/2008<br>Victor A. McKusick - updated : 12/28/2007<br>Victor A. McKusick - updated : 12/12/2007<br>Patricia A. Hartz - updated : 12/13/2005<br>Cassandra L. Kniffin - updated : 2/8/2005<br>Victor A. McKusick - updated : 3/5/2003
</span>
</div>
</div>
</div>
<div>
<a id="creationDate" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin : 5/13/2002
</span>
</div>
</div>
</div>
<div>
<a id="editHistory" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
alopez : 02/03/2020
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseEditHistory">
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
mgross : 10/30/2017<br>carol : 06/14/2016<br>mgross : 11/4/2015<br>joanna : 11/4/2015<br>carol : 9/19/2013<br>carol : 9/16/2013<br>carol : 8/13/2013<br>carol : 4/16/2013<br>alopez : 3/19/2013<br>alopez : 2/13/2013<br>alopez : 2/13/2013<br>terry : 2/7/2013<br>terry : 11/6/2012<br>carol : 10/2/2012<br>carol : 10/2/2012<br>joanna : 10/2/2012<br>joanna : 11/29/2011<br>alopez : 11/3/2011<br>carol : 2/2/2011<br>mgross : 12/9/2010<br>wwang : 9/2/2010<br>wwang : 9/2/2010<br>terry : 8/27/2010<br>wwang : 5/24/2010<br>ckniffin : 5/21/2010<br>carol : 12/23/2009<br>terry : 12/4/2009<br>mgross : 11/9/2009<br>wwang : 10/30/2009<br>terry : 10/30/2009<br>alopez : 10/20/2009<br>terry : 9/16/2009<br>wwang : 9/2/2009<br>wwang : 3/10/2009<br>ckniffin : 3/3/2009<br>alopez : 9/26/2008<br>terry : 9/24/2008<br>alopez : 9/4/2008<br>terry : 8/6/2008<br>alopez : 1/17/2008<br>alopez : 1/16/2008<br>terry : 12/28/2007<br>alopez : 12/12/2007<br>alopez : 12/12/2007<br>carol : 9/13/2007<br>ckniffin : 9/13/2007<br>carol : 9/12/2007<br>ckniffin : 9/11/2007<br>wwang : 12/20/2005<br>wwang : 12/13/2005<br>ckniffin : 2/8/2005<br>carol : 11/5/2003<br>carol : 3/28/2003<br>ckniffin : 3/21/2003<br>carol : 3/19/2003<br>tkritzer : 3/11/2003<br>terry : 3/5/2003<br>carol : 5/29/2002<br>carol : 5/15/2002<br>ckniffin : 5/15/2002<br>ckniffin : 5/15/2002
</span>
</div>
</div>
</div>
</div>
</div>
</div>
<div class="container visible-print-block">
<div class="row">
<div class="col-md-8 col-md-offset-1">
<div>
<div>
<h3>
<span class="mim-font">
<strong>*</strong> 606933
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
TYROSINASE; TYR
</span>
</h3>
</div>
<div>
<br />
</div>
</div>
<div>
<p>
<span class="mim-text-font">
<strong><em>HGNC Approved Gene Symbol: TYR</em></strong>
</span>
</p>
</div>
<div>
<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 6483008, 82342003; &nbsp;
<strong>ICD10CM:</strong> E70.320; &nbsp;
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<p>
<span class="mim-text-font">
<strong>
<em>
Cytogenetic location: 11q14.3
&nbsp;
Genomic coordinates <span class="small">(GRCh38)</span> : 11:89,177,875-89,295,759 </span>
</em>
</strong>
<span class="small">(from NCBI)</span>
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Gene-Phenotype Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="5">
<span class="mim-font">
11q14.3
</span>
</td>
<td>
<span class="mim-font">
[Skin/hair/eye pigmentation 3, blue/green eyes]
</span>
</td>
<td>
<span class="mim-font">
601800
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
[Skin/hair/eye pigmentation 3, light/dark/freckling skin]
</span>
</td>
<td>
<span class="mim-font">
601800
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
{Melanoma, cutaneous malignant, susceptibility to, 8}
</span>
</td>
<td>
<span class="mim-font">
601800
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Albinism, oculocutaneous, type IA
</span>
</td>
<td>
<span class="mim-font">
203100
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Albinism, oculocutaneous, type IB
</span>
</td>
<td>
<span class="mim-font">
606952
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Tyrosinase (EC 1.14.18.1) catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin (Spritz, 1994). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Cloning and Expression</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Kwon et al. (1987) screened a lambda-gt11 human melanocyte cDNA library with antibodies against hamster tyrosinase and obtained a partial clone for human tyrosinase. The deduced protein lacked the initiating methionine, but its first 12 amino acids had characteristics of a signal peptide, indicating that the sequence of the mature protein was intact. The deduced mature protein contains 548 amino acids and has a calculated molecular mass of 62.6 kD. It has 5 glycosylation sites, 2 cysteine-rich domains, several histidine-rich sites that may be involved in copper binding, and a C-terminal transmembrane domain. RNA blot analysis detected an approximately 2.4-kb mRNA in normal and malignant human melanocytes, but not in other cell lines tested. </p><p>Shibahara et al. (1988) isolated a tyrosinase cDNA from a human melanoma cDNA library. The cDNA lacked the 5-prime end, including the initiation codon, but it included the full coding sequence for the mature enzyme. Shibahara et al. (1988) noted multiple differences between their cDNA and the cDNA cloned by Kwon et al. (1987), particularly in the region encoding the C terminus. Therefore, Shibahara et al. (1988) isolated a genomic clone harboring the 3-prime end of the tyrosinase coding sequence, which confirmed the sequence of their cDNA. The deduced mature protein contains 511 amino acids and has a calculated molecular mass of about 58 kD, similar to the apparent molecular mass of purified tyrosinase. It contains 2 evolutionarily conserved copper-binding regions and a C-terminal transmembrane domain. Sixteen cysteines and 6 potential N-glycosylation sites are conserved in mouse and human tyrosinase. RNA blot analysis detected a 2.0-kb mRNA in human melanoma cells, but not in HeLa cells. Shibahara et al. (1988) presented evidence suggesting that tyrosinase is alternatively spliced. </p><p>Using a human tyrosinase cDNA clone, Barton et al. (1988) and Kwon et al. (1989) isolated mouse tyrosinase genomic clones. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Gene Structure</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Spritz et al. (1988) identified a TaqI RFLP at the TYR locus. The human tyrosinase gene contains 4 introns, with exon-intron boundaries identical to those in the mouse gene. Giebel and Spritz (1990) reported an MboI RFLP in the TYR gene. Giebel et al. (1991) demonstrated that the tyrosinase gene contains 5 exons. A tyrosinase-related 'gene,' which contains only exons 4 and 5, is located on 11p; see 191270. Ponnazhagan et al. (1994) characterized the promoter region. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Kwon et al. (1987) used Southern blot analysis of DNA derived from newborn mice carrying lethal albino deletion mutations to show that the clone maps near or at the c-albino locus on mouse chromosome 7, which is known to be the structural gene for tyrosinase. </p><p>Barton et al. (1988) used a human tyrosinase cDNA to map the human TYR locus to chromosome 11q14-q21 by Southern blot analysis of somatic cell hybrid DNA and by in situ chromosomal hybridization. A second site of tyrosinase-related sequences was detected on the short arm of chromosome 11 near the centromere (p11.2-cen). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Gene Function</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Petris et al. (2000) investigated whether tyrosinase activity required the copper-transporting P-type ATPase ATP7A (300011). Recombinant tyrosinase was inactive when expressed in immortalized fibroblasts from patients with Menkes disease (309400), a recessive copper deficiency disorder caused by mutations in ATP7A. In contrast, normal fibroblasts that expressed ATP7A showed substantial tyrosinase activity. Coexpression of ATP7A and tyrosinase from plasmid constructs in Menkes fibroblasts led to activation of tyrosinase and melanogenesis. This ATP7A-dependent activation of tyrosinase was impaired by chelation of copper in the medium of cells and after mutation of the invariant phosphorylation site at asp1044 of ATP7A. The authors proposed that ATP7A transports copper into the secretory pathway of mammalian cells to activate copper-dependent enzymes, including tyrosinase. </p><p>Setty et al. (2008) showed that the pigment cell-specific cuproenzyme tyrosinase acquires copper only transiently and inefficiently within the trans-Golgi network of mouse melanocytes. To catalyze melanin synthesis, tyrosinase is subsequently reloaded with copper within specialized organelles called melanosomes. Copper is supplied to melanosomes by ATP7A, a cohort of which localizes to melanosomes in a BLOC1 (biogenesis of lysosome-related organelles complex-1)-dependent manner. Setty et al. (2008) concluded that cell type-specific localization of a metal transporter is required to sustain metallation of an endomembrane cuproenzyme, providing a mechanism for exquisite spatial control of metalloenzyme activity. Moreover, because BLOC1 subunits are mutated in subtypes of the genetic disease Hermansky-Pudlak syndrome (203300), these results also show that defects in copper transporter localization contribute to hypopigmentation, and hence perhaps other synaptic defects, in Hermansky-Pudlak syndrome. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p><strong><em>Oculocutaneous Albinism</em></strong></p><p>
In a child with tyrosinase-negative oculocutaneous albinism (OCA1A; 203100), Tomita et al. (1989) identified a homozygous 1-bp insertion in exon 2 of the TYR gene (606933.0001). The insertion shifted the reading frame and introduced a premature termination signal after amino acid residue 298, resulting in a truncated enzyme lacking 1 of 2 copper-binding regions. Functional analysis indicated that the truncated tyrosinase was catalytically inactive. </p><p>In a patient with classic tyrosinase-negative OCA, Spritz et al. (1989) found a thr355-to-lys substitution in the TYR gene (606933.0003) that abolished 1 of 6 putative N-linked glycosylation sites that are completely conserved between humans and mice.</p><p>In a patient with 'yellow' OCA, also known as OCA type IB (OCA1B; 606952), Spritz et al. (1989) identified a pro81-to-leu substitution in the TYR gene (606933.0002) that may interfere with the normal folding of the tyrosinase polypeptide.</p><p>In 6 of 30 unrelated patients with OCA1A, Giebel et al. (1990) identified the P81L substitution in the TYR gene. Giebel et al. (1990) also identified mutations in the TYR gene in patients with OCA1B (see, e.g., 606933.0006 and 606933.0007).</p><p>On the basis of an analysis of 16 missense mutations, King et al. (1991) pointed out that most of the mutations cluster in 4 areas of the gene. Two clusters involve the copper A and copper B binding sites and mutations in these areas could disrupt the metal ion-protein interaction necessary for enzyme function. The other 2 clusters are in exons 1 and 4 and could indicate important functional domains of the enzyme. </p><p>Tripathi et al. (1992) stated that more than 60 independent albinism-producing alleles had been described at the TYR locus. They reviewed 29 of these and commented on 2 additional novel missense substitutions in a 'note added in proof.' They commented that type I OCA in Caucasians clearly results from a great variety of different uncommon alleles. About 90% of OCA in Caucasians was accounted for by the 29 mutations they described. More than 80% of the then-known missense substitutions clustered within 2 relatively small regions of the tyrosinase polypeptide, suggesting that these may represent functionally critical sites within the enzyme. Oetting and King (1992) reviewed 17 reported missense mutations and 10 nonsense and frameshift mutations causing tyrosinase-negative OCA and added 2 and 3 new mutations of the respective types. </p><p>Although a separate locus on chromosome 15 has been identified as the site of mutations responsible for tyrosinase-positive OCA, it turns out, on the basis of the mutation analyses of Tripathi et al. (1992), that some patients clinically defined as 'tyrosinase-positive' OCA (OCA1B; 203200) in fact have mutations in the tyrosinase gene. Oetting and King (1993) tabulated 36 mutations identified in type I OCA: 24 missense, 4 nonsense, and 8 frameshift mutations. The affected individuals in these cases were compound heterozygotes. They also listed 6 polymorphic sites useful in haplotype analysis: 2 in the promoter region, 2 in the coding region associated with alternative amino acids in the tyrosinase protein, and 2 RFLPs in the first intron. </p><p>Passmore et al. (1999) reported the mutational profile, determined by genetic analysis of the tyrosinase and P (OCA2; 611409) genes, in a large German albino population. Of the 74 unrelated patients screened, 32 (43%) had mutations in the tyrosinase gene, 16 (22%) had P gene mutations, and 26 (35%) had no detectable genetic abnormalities. A total of 42 distinct mutations were found, of which 19 were novel. </p><p>Oetting and King (1999) reviewed mutations and polymorphisms identified in the TYR gene in OCA1, the OCA2 gene, the tyrosinase-related protein-1 gene (TYRP1; 115501) causing OCA3 (203290), the HPS gene in Hermansky-Pudlak syndrome (203300), the CHS1 gene in Chediak-Higashi syndrome (214500), and the OA1 gene (GPR143; 300808) in X-linked ocular albinism (300500). The data were available online from the International Albinism Center Albinism Database web site. </p><p><strong><em>Normal Pigment Variation</em></strong></p><p>
Stokowski et al. (2007) demonstrated an association between the TYR SNP rs1042602 (S192Y; 606933.0008) and skin pigmentation variation (SHEP3; 601800) in individuals of South Asian descent. </p><p>In a genomewide association study using Icelandic and Dutch population samples, Sulem et al. (2007) found an association of the TYR SNP rs1042602 (S192Y; 606933.0008) with freckling. They also found strong correlation (r(2) = 0.86) of the TYR SNP rs1393350 with rs1126809 (R402Q; 606933.0009). The association of the rs1393350 A allele with blue versus green eye color was close to reaching genomewide significance (OR = 1.52, p = 2.0 x 10-(6)), which was confirmed in replication samples (combined p = 3.3 x 10(-12)). The authors also detected possible secondary associations of this SNP with blond versus brown hair and with skin sensitivity to sun. </p><p><strong><em>Susceptibility to Cutaneous Malignant Melanoma</em></strong></p><p>
Gudbjartsson et al. (2008) assessed the effect of gene variants affecting hair, eye, and skin pigmentation of Europeans upon the risk of cutaneous melanoma (see 601800) and basal cell carcinoma. The authors studied 2,121 individuals with cutaneous melanoma and 2,163 individuals with basal cell carcinoma, and over 40,000 controls. A 2-SNP haplotype near the ASIP gene (600201) was the variant most strongly associated with both cutaneous melanoma and basal cell carcinoma. The R402Q variant of TYR (606933.0009) showed the second most significant association to cutaneous melanoma and basal cell carcinoma. </p><p>Bishop et al. (2009) reported a genomewide association study of melanoma conducted by the GenoMEL consortium based on 317,000 tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional 2 cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases and 903 controls). The genomewide screen identified 5 loci with genotypes or imputed SNPs reaching p less than 5 x 10(-7). Three of these loci were replicated: 16q24 encompassing MC1R (155555) (combined P = 2.54 x 10(27) for rs258322), 11q14-q21 encompassing TYR (p = 2.41 x 10(-14) for rs1393350), and 9p21 adjacent to MTAP (156540) and flanking CDKN2A (600160) (p = 4.03 x 10(-7) for rs7023329) (see 155601). MC1R and TYR are associated with pigmentation, freckling, and cutaneous sun sensitivity, well-recognized melanoma risk factors. Bishop et al. (2009) concluded that despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk. </p><p><strong><em>Other Disease Associations</em></strong></p><p>
For a discussion of a possible association between variation in the TYR gene and susceptibility to vitiligo, see 606579.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Giebel and Spritz (1990) estimated that the frequencies of alleles A1 and A2 were 0.48 and 0.52, respectively. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>A mutation in tyrosinase responsible for the albino mouse appears to be a change of cysteine-85 to serine (Kwon et al., 1988), resulting from a change of guanine 390 to cytosine. Jackson and Bennett (1990) studied revertant cells and found that loss of the mutant allele was responsible. </p><p>The zebrafish albino mutant 'sdy' is caused by mutation in the 'sandy' gene. Page-McCaw et al. (2004) cloned the sandy gene and determined that it encodes tyrosinase. In a complex series of experiments, the authors found that sdy mutants demonstrated impaired optokinetic behavior after a return to bright light after periods of darkness compared to wildtype. The sdy mutation compromised the ability of retinal circuits to reset sensitivity to light. The deficit was demonstrated in fully pigmented fish by inhibiting tyrosinase, indicating that the response in sdy fish was not due to the absence of melanin. The findings suggested that a tyrosinase product other than melanin was responsible, and Page-McCaw et al. (2004) hypothesized that the product could be dopamine. </p><p>Schmidt-Kuntzel et al. (2005) found that 2 nonsynonymous substitutions in the Tyr gene caused the 'siamese' and 'burmese' alleles of the albino locus, respectively, in domestic cats. </p><p>Polanowski et al. (2012) analyzed sequence variation in exon 1 of the Tyr gene in 66 humpback whale (Megaptera novaeangliae) samples, including that of a white humpback whale known as 'Migaloo.' They determined that Migaloo was homozygous for a cytosine deletion (264delC) at codon 88, predicted to result in a frameshift and premature termination of the protein. The truncated protein would lack both of the putative copper-binding sites and the putative transmembrane segment and would therefore have no tyrosinase enzymatic activity. The authors noted that although Migaloo's eye was not visible in any photographs, an unusual amount of pink pigmentation around his blowhole could be seen. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>ALLELIC VARIANTS</strong>
</span>
<strong>38 Selected Examples):</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0001 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, 1-BP INS, 1012C
<br />
SNP: rs281865527,
ClinVar: RCV000003969, RCV000085980, RCV000623277, RCV003460412, RCV004739286, RCV004795370, RCV005003326
</span>
</div>
<div>
<span class="mim-text-font">
<p>In a child with tyrosinase-negative oculocutaneous albinism (OCA1A; 203100), Tomita et al. (1989) identified a homozygous 1-bp insertion (C) between nucleotides 1011 and 1012 in exon 2 of the TYR gene. The insertion shifted the reading frame and introduced a premature termination signal (TGA codon) after amino acid residue 298, resulting in a truncated enzyme lacking 1 of 2 copper-binding regions. Functional analysis indicated that the truncated tyrosinase was catalytically inactive. Both parents and 1 sib were heterozygous; their DNAs reacted with both the mutant probe and the normal probe. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0002 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IB</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
ALBINISM, OCULOCUTANEOUS, TYPE IA, INCLUDED
</span>
</div>
<div>
<span class="mim-text-font">
TYR, PRO81LEU
<br />
SNP: rs28940876,
gnomAD: rs28940876,
ClinVar: RCV000003970, RCV000085939, RCV000505170, RCV000599844, RCV000623980, RCV001249700, RCV002496249, RCV003387499, RCV003466799, RCV003993735
</span>
</div>
<div>
<span class="mim-text-font">
<p />
<p><strong><em>Oculocutaneous Albinism, Type 1B</em></strong></p><p>
In a patient with 'yellow' OCA (OCA1B; 606952), Spritz et al. (1989) identified a pro81-to-leu (P81L) substitution that was predicted to interfere with the normal folding of the tyrosinase polypeptide.</p><p><strong><em>Oculocutaneous Albinism, Type 1A</em></strong></p><p>
In 6 of 30 unrelated patients with a tyrosinase-negative (type IA) oculocutaneous albinism (OCA1A; 203100), Giebel et al. (1990) observed a CCT-to-CTT change in codon 81 resulting in a substitution of leucine for proline. The codon 81 substitution abolished an HaeIII restriction site within exon 1, thus permitting rapid screening for the substitution by PCR amplification of exon 1 followed by HaeIII cleavage. Giebel et al. (1990) detected the codon 81 mutation in 4 of 15 independently ascertained type I OCA probands; of their 30 OCA tyrosinase alleles, 6 contained the codon 81 mutation, yielding an overall frequency of 0.2 for this allele among these type I OCA probands. Giebel et al. (1991) found the pro81-to-leu mutation in compound heterozygosity in a family with type IB OCA. The other allele was the val275-to-phe mutation (606933.0007). </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0003 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, THR355LYS
<br />
SNP: rs61754388,
gnomAD: rs61754388,
ClinVar: RCV000003973, RCV000085898, RCV000335429, RCV001542596, RCV002476920, RCV003150806, RCV003387500, RCV005054134
</span>
</div>
<div>
<span class="mim-text-font">
<p>In a woman with classic albinism (OCA1A; 203100), Spritz et al. (1990) demonstrated compound heterozygosity for 2 allelic single-base missense substitutions in the tyrosinase gene that altered codons 355 (thr-to-lys) and 365 (asp-to-asn). These substitutions would be expected to cause a severe defect of tyrosinase activity. Both result in changes of net charge, and both occur in a region of predicted helical structure within the so-called copper-binding region of the enzyme. In another numbering system, this is referred to as THR373LYS (King et al., 1991). In a case of type IA oculocutaneous albinism, Oetting et al. (1991) identified a change from ACA to AAA in codon 373 resulting in substitution of lysine for threonine. Also see Tripathi et al. (1992). </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0004 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, ASP365ASN
<br />
SNP: rs121908011,
gnomAD: rs121908011,
ClinVar: RCV000003974, RCV000085903, RCV000680155, RCV000755077, RCV000762870, RCV001266635, RCV003230346, RCV003460413, RCV004532281, RCV005007814
</span>
</div>
<div>
<span class="mim-text-font">
<p>For discussion of an asp365-to-asn (D365N) mutation in the TYR gene that was found in compound heterozygous state in a patient with oculocutaneous albinism 1A (OCA1A; 203100) by Spritz et al. (1990), see 606933.0003. In another numbering system this is referred to as ASP383ASN (King et al., 1991). </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0005 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, ARG77GLN
<br />
SNP: rs61753185,
gnomAD: rs61753185,
ClinVar: RCV000003975, RCV000085934, RCV000984954, RCV002476921, RCV003156054, RCV003466800, RCV004532282, RCV004782006
</span>
</div>
<div>
<span class="mim-text-font">
<p>In a Japanese patient with oculocutaneous albinism 1A (OCA1A; 203100), Kikuchi et al. (1990) demonstrated a G-to-A change in nucleotide 309 of the TYR gene by enzymatic DNA amplification and direct DNA sequencing. This was thought to result in a change of arginine-77 to glutamine. Also see Tripathi et al. (1992). </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0006 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IB</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, PRO406LEU
<br />
SNP: rs104894313,
gnomAD: rs104894313,
ClinVar: RCV000003976, RCV000085913, RCV000400442, RCV000500113, RCV000623187, RCV000762872, RCV001375218, RCV001813946, RCV003460414, RCV004532283, RCV004782007, RCV005007815
</span>
</div>
<div>
<span class="mim-text-font">
<p>In an Amish kindred with oculocutaneous albinism (OCA1B; 606952) reported by Nance et al. (1970), Giebel et al. (1990) observed a substitution of leucine for proline at position 406 of the tyrosinase gene. Tripathi et al. (1992) stated that this mutation had been found only among the Amish. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0007 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IB</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, VAL275PHE
<br />
SNP: rs104894314,
gnomAD: rs104894314,
ClinVar: RCV000003972, RCV000085973, RCV000192471, RCV000778348, RCV001542595, RCV002476919, RCV004532280
</span>
</div>
<div>
<span class="mim-text-font">
<p>In a patient with the 'yellow' form of oculocutaneous albinism (type IB) (OCA1B; 606952), Giebel et al. (1990) found compound heterozygosity for the pro81-to-leu mutation (606933.0002) and a novel val275-to-phe mutation.</p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0008 &nbsp; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING, INCLUDED
</span>
</div>
<div>
<span class="mim-text-font">
TYR, SER192TYR ({dbSNP rs1042602})
<br />
SNP: rs1042602,
gnomAD: rs1042602,
ClinVar: RCV000003977, RCV000055807, RCV000085955, RCV000173114, RCV000341159, RCV002226432, RCV003150831, RCV004527285, RCV004584138
</span>
</div>
<div>
<span class="mim-text-font">
<p>Spritz et al. (1990) noted that serine versus tyrosine at position 192 of tyrosinase is a common nonpathologic polymorphism.</p><p>In a genomewide association study of skin pigmentation variation (SHEP3; 601800) using 1,620,742 SNPs in a population of 737 individuals of South Asian ancestry living in the United Kingdom, Stokowski et al. (2007) found association of the TYR SNP rs1042602 (S192Y) with skin pigmentation. The association was replicated in a second independent cohort of 235 individuals. </p><p>In a discovery sample of 2,986 Icelanders and replication samples of 2,718 Icelanders and 1,214 Dutch, Sulem et al. (2007) found an association of the TYR SNP rs1042602 with freckling (discovery OR = 1.32, p = 1.5 x 10(-11)). No association was found between this SNP and skin or eye color. Based on analysis of HapMap samples, the A allele of rs1042602, associated with the absence of freckles, is found at a frequency of approximately 35% in European populations, while the ancestral C allele is fixed in Asian and Nigerian Yoruba populations. There was evidence that the A allele has been subject to positive selection in European populations. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0009 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IB</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
ALBINISM, OCULOCUTANEOUS TYPE I, TEMPERATURE-SENSITIVE, INCLUDED<br />
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8, INCLUDED<br />
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, INCLUDED<br />
SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYES, INCLUDED
</span>
</div>
<div>
<span class="mim-text-font">
TYR, ARG402GLN ({dbSNP rs1126809})
<br />
SNP: rs1126809,
gnomAD: rs1126809,
ClinVar: RCV000003978, RCV000003979, RCV000003980, RCV000003981, RCV000003982, RCV000085910, RCV000254054, RCV000500466, RCV000626673, RCV000721172, RCV001269379, RCV002226432, RCV003150831, RCV003985252, RCV004584139
</span>
</div>
<div>
<span class="mim-text-font">
<p>Hutton and Spritz (2008) noted that the rs1126809 variant encodes a tyrosinase enzyme with an arg402-to-gln (R402Q) substitution, resulting in a tyrosinase peptide that is thermolabile and subject to endoplasmic reticulum retention, yielding only 25% of the catalytic activity of the wildtype enzyme at 37 degrees C. The SNP is quite common among Caucasians, with an allele frequency of approximately 0.278. Oetting et al. (2009) noted that the allele frequency is much lower in African Americans (0.05) and absent in the Asian population. </p><p><strong><em>Oculocutaneous Albinism Type IB</em></strong></p><p>
Fukai et al. (1995) showed that a mild form of oculocutaneous albinism 1B (OCA1B; 606952) with only ocular albinism can result from compound heterozygosity for a mutant allele of TYR and the polymorphic R402Q allele. This polymorphic allele encodes a form of tyrosinase with reduced catalytic activity. </p><p>Chiang et al. (2008) reported a Hispanic family in which 2 sibs had variable manifestations of OCA1B. A 6-year-old boy had nystagmus, decreased vision, light hair, light skin color, and foveal hypoplasia. His sister had exotropia, blonde hair, light skin color, and brown irides with no history of nystagmus, foveal hypoplasia or decreased vision. Genetic analysis identified compound heterozygosity for 2 variants in the TYR gene: G47D (606933.0024) and the hypomorphic allele R402Q. Each unaffected parent was heterozygous for 1 of the variants. Chiang et al. (2008) postulated that the clinical spectrum of OCA depends on a pigmentation threshold of the affected individual, and that OCA is a quantitative trait disorder with phenotypic variation in individuals of different ethnic backgrounds. </p><p>In 36 unrelated Caucasian patients with a clinical diagnosis of autosomal recessive ocular albinism (AROA), Hutton and Spritz (2008) identified 20 patients who were compound heterozygous for the R402Q variant on 1 allele and for various severe OCA1 mutations on the other allele. The authors noted that this genotypic combination should occur in approximately 1 per 280 Caucasian individuals; however, the prevalence of AROA, while unknown, is certainly lower than that, indicating that the penetrance of the AROA phenotype must be very low, given a susceptible genotype. </p><p>After excluding black and Asian OCA1 patients, Chiang et al. (2009) identified 23 OCA patients in their database with 1 or 2 TYR mutations. The authors found that 10 of the 11 patients with only 1 TYR mutation were heterozygous for the R402Q allele, whereas among the 12 patients with 2 mutations in TYR, 2 were heterozygous and 1 homozygous for R402Q, and 9 did not carry the R402Q allele. Chiang et al. (2009) concluded that the R402Q allele is strongly associated with albinism patients who have only 1 mutation in TYR. </p><p>Oetting et al. (2009) analyzed the segregation of the Q402 allele in 12 families with oculocutaneous albinism type I in which all parents were unaffected with normal visual acuity. In 9 families, 1 parent in each sibship had a pathologic mutation on 1 allele and the Q402 allele in trans, yet none had hypopigmentation or the presence of abnormal visual acuity and fovial hypoplasia. In the remaining 3 families, 2 of which were previously studied by Hutton and Spritz (2008), the maternal mutation was not identified: in 1 family, the unaffected mother was homozygous for Q402 and also presumably carried an unidentified pathologic mutation; in another, the normal father had a pathologic mutation on 1 allele and Q402 in trans; and in the last family, the unaffected mother carried R402 on the allele presumably containing an unidentified mutation that was passed to her child, and Q402 in trans on the untransmitted allele. Oetting et al. (2009) concluded that the R402Q variant of TYR is not associated with autosomal recessive ocular albinism (AROA) but suggested that a causative variant may be in genetic disequilibrium with the R402Q variant. </p><p>In 31 Caucasian patients with 1 or 2 mutations in the TYR gene, Simeonov et al. (2013) found that the R402Q allele was more frequent in the group with 1 mutation (50%) compared to the group with 2 mutations (10%). In 5 patients with no mutation in TYR who did not have paired trans-mutation in another OCA gene, they found that 40% of alleles had R402Q. </p><p>Morell et al. (1997) found that the family reported by Bard (1978) with a combination of congenital deafness and ocular albinism had a syndrome apparently due to digenic inheritance. Affected individuals had features consistent with Waardenburg syndrome type 2 (WS2A; 193510) and ocular albinism; they were heterozygous for a 1-bp deletion in the MITF gene (156845.0005) and homozygous or heterozygous for the R402Q mutation. The transcription factor MITF regulates the expression of the TYR gene. </p><p><strong><em>Temperature-Sensitive Oculocutaneous Albinism</em></strong></p><p>
In an unusual subset of oculocutaneous albinism type I, designated OCA1-TS (see 606952), mutations in the TYR gene render tyrosinase temperature-sensitive (ts). Consequently, melanin synthesis occurs only in cooler areas of the body, such as the arms and legs. The resultant pattern of peripheral pigmentation is analogous to that of the Siamese cat and the Himalayan mouse. Both the R402Q variant and the similar but less prevalent R422Q variant (606933.0012) are temperature-sensitive. The R402Q variant represents approximately 15% of the gene pool among Caucasians (King et al., 1991). Berson et al. (2000) analyzed the localization and processing of the R402Q variant and showed that the ts phenotype is due to a defect in protein folding that prevents exit from the endoplasmic reticulum (ER). The partial ts phenotype of a wildtype allelic form of tyrosinase and the lack of an apparent significant increase in ER-associated degradation of the R402Q variant suggested that it exaggerates an inefficient folding process inherent in human tyrosinase when expressed in nonmelanogenic cells. </p><p><strong><em>Variation in Skin/Hair/Eye Pigmentation</em></strong></p><p>
In a genomewide association study using Icelandic and Dutch population samples, Sulem et al. (2007) found an association of the TYR SNP rs1042602 (S192Y; 606933.0008) with freckling (SHEP3; 601800). They also found strong correlation (r(2) = 0.86) of the TYR SNP rs1393350 with the TYR SNP rs1126809 (R402Q). Sulem et al. (2008) presented results from a genomewide association study for variants associated with human pigmentation characteristics among 5,130 Icelanders, with follow-up analyses in 2,116 Icelanders and 1,214 Dutch individuals. The rs1126809 R402Q variant showed genomewide significance for association with skin sensitivity to sun (p = 7.1 x 10(-13)) and blue versus green eye color (p = 4.6 x 10(-21)). </p><p><strong><em>Susceptibility to Cutaneous Malignant Melanoma</em></strong></p><p>
In a study of the effect of pigmentation-associated genetic sequence variants on risk of cutaneous melanoma (see 601800) and basal cell carcinoma, Gudbjartsson et al. (2008) found that the R402Q variant of TYR, previously shown to affect eye color and tanning response, conferred risk of cutaneous melanoma (odds ratio = 1.21, p = 2.8 x 10(-7)) and basal cell carcinoma (odds ratio = 1.14, p = 6.1 x 10(-4)). </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0010 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, ARG59GLN
<br />
SNP: rs61753185,
gnomAD: rs61753185,
ClinVar: RCV000003975, RCV000085934, RCV000984954, RCV002476921, RCV003156054, RCV003466800, RCV004532282, RCV004782006
</span>
</div>
<div>
<span class="mim-text-font">
<p>In a case of tyrosinase-negative oculocutaneous albinism (OCA1A; 203100), Takeda et al. (1990) found a G-to-A transition at nucleotide 312 in exon 1 causing an arg(CGG)-to-gln(CAG) substitution at amino acid 59. The base change eliminated 1 MspI site and created a new BstNI site valuable for screening other OCA patients and heterozygous carriers. The patient was homozygous for the arg59-to-gln mutation. Heterozygotes in the family were phenotypically normal. Transfection of the mutant gene failed to give rise to detectable tyrosinase activity in transient expression assays. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0011 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, CYS89ARG
<br />
SNP: rs28940877,
gnomAD: rs28940877,
ClinVar: RCV000003984, RCV000085941, RCV000626678
</span>
</div>
<div>
<span class="mim-text-font">
<p>In an American black with classic, tyrosinase-negative oculocutaneous albinism (OCA1A; 203100), Spritz et al. (1991) identified substitution of arginine for cysteine at codon 89. The subject was homozygous for a TGC-to-CGC transition. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0012 &nbsp; ALBINISM, OCULOCUTANEOUS TYPE I, TEMPERATURE-SENSITIVE</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, ARG422GLN
<br />
SNP: rs61754393,
gnomAD: rs61754393,
ClinVar: RCV000003985, RCV000085916, RCV003238721, RCV003460415, RCV004739287, RCV004795371
</span>
</div>
<div>
<span class="mim-text-font">
<p>King et al. (1989, 1991) described a temperature-sensitive abnormality of tyrosinase resulting in oculocutaneous albinism (606952). At age 29 years, the proband showed white axillary hair, scalp hair that was white with a yellow tint, pubic hair that was dark yellow to light brown, hair on the arm that was reddish blond, and hair on the leg that was dark brown. No ocular pigment was present. Analysis of the pedigree suggested that the index case and her similarly affected brother were genetic compounds. This is the human equivalent of the temperature-related forms of albinism seen in the Siamese cat and the Himalayan mouse. Giebel et al. (1991) reported the Himalayan phenomenon in humans, i.e., peripheral pigmentation in oculocutaneous albinism associated with temperature-sensitive tyrosinase. In a patient with type I OCA in which hypopigmentation was related to local body temperature, Giebel et al. (1991) found that CGG (arg) at codon 422 in tyrosinase was converted to CAG (gln). The proband and her 2 affected brothers completely lacked melanin pigment at birth but after puberty developed slight pigmentation of facial and pubic hair and extensive pigmentation in relatively cool parts such as the hair of the arms and legs. Kwon et al. (1989) showed that the temperature-sensitive tyrosinase in the Himalayan mouse is due to a his420-to-arg mutation, only 2 amino acids away from the human codon 422 substitution described by Giebel et al. (1991). By in vitro mutagenesis and introduction of the codon 422 mutation into HeLa cells, Giebel et al. (1991) demonstrated that the codon 422 substitution resulted in thermosensitivity of tyrosinase; tyrosinase activity was 28% of normal in cells cultured at 31 degrees C and only 1.4% of normal in cells cultured at 37 degrees C. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0013 &nbsp; RECLASSIFIED - TYROSINASE POLYMORPHISM</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, -199C-A
<br />
SNP: rs1799989,
gnomAD: rs1799989,
ClinVar: RCV000003986, RCV000085882
</span>
</div>
<div>
<span class="mim-text-font">
<p>This variant, formerly titled ALBINISM, OCULOCUTANEOUS, TYPE IA, has been reclassified as a polymorphism based on the report by Oetting and King (1993). </p><p>Oetting and King (1991) reported a mutation in the CCAAT box associated with tyrosinase-negative OCA (203100). The proband was a genetic compound: one allele had a C-to-A substitution at -199 that changed CCAATTC to CCAATTA. The other chromosome carried a G-to-A substitution in codon 55 of exon 1, changing a cysteine to tyrosine. Subsequently, Oetting and King (1993) determined that this variant is a polymorphism in all racial groups. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0014 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, TRP178TER
<br />
SNP: rs61754360,
gnomAD: rs61754360,
ClinVar: RCV000003987, RCV000085953
</span>
</div>
<div>
<span class="mim-text-font">
<p>In 2 sibs of Afghan ethnic origin, offspring of first-cousin parents, with oculocutaneous albinism (OCA1A; 203100), Giebel et al. (1991) found an amber nonsense mutation at codon 178 which converted tryptophan to stop. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0015 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, GLY191ASP
<br />
SNP: rs61754361,
gnomAD: rs61754361,
ClinVar: RCV000003988, RCV000085954, RCV003460782, RCV004739351, RCV005003464
</span>
</div>
<div>
<span class="mim-text-font">
<p>In 2 unrelated patients with type IA oculocutaneous albinism (OCA1A; 203100), Oetting et al. (1991) found deletion of a guanine from codon 191 causing substitution of asparagine for glycine and resulting in a frameshift and a premature termination signal at codon 225. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0016 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, ASN382LYS
<br />
SNP: rs104894315,
gnomAD: rs104894315,
ClinVar: RCV000003989, RCV000085902, RCV003460416, RCV005007816
</span>
</div>
<div>
<span class="mim-text-font">
<p>In a case of type IA oculocutaneous albinism (OCA1A; 203100), Oetting et al. (1991) found a change in codon 382 from AAC to AAA resulting in substitution of lysine for asparagine. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0017 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, 2-BP DEL, TG, CODONS 244,245
<br />
SNP: rs61754368,
gnomAD: rs61754368,
ClinVar: RCV000003990, RCV000085968, RCV003460417, RCV004739288, RCV005007817
</span>
</div>
<div>
<span class="mim-text-font">
<p>In a case of type IA oculocutaneous albinism (OCA1A; 203100), Oetting et al. (1991) found deletion of a TG dinucleotide from codons 244 and 245 converting TGTGAC to TGAC and leading to premature termination at the TGA signal. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0018 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, MET96ASN
<br />
SNP: rs61753190,
gnomAD: rs61753190,
ClinVar: RCV000003991, RCV000085942, RCV001813947, RCV003460418
</span>
</div>
<div>
<span class="mim-text-font">
<p>In a case of type IA oculocutaneous albinism (OCA1A; 203100), Oetting et al. (1991) found a change in codon 96 from ATG (met) to AAT (asn) due to the insertion of an adenine. This caused a frameshift and a premature termination signal at codon 168. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0019 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, ASP42GLY
<br />
SNP: rs28940878,
ClinVar: RCV000003992, RCV000085915
</span>
</div>
<div>
<span class="mim-text-font">
<p>In a patient with type IA OCA (OCA1A; 203100), King et al. (1991) found a GAC-to-GGC change at codon 42 resulting in substitution of glycine for aspartic acid. See Tripathi et al. (1992) for the GAC(asp)-to-GGC(gly) mutation at codon 42. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0020 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, CYS55TYR
<br />
SNP: rs28940879,
gnomAD: rs28940879,
ClinVar: RCV000003993, RCV000085930, RCV000763288, RCV000778345, RCV002288461, RCV003466801, RCV004795372, RCV005003327
</span>
</div>
<div>
<span class="mim-text-font">
<p>In a patient with type IA OCA (OCA1A; 203100), King et al. (1991) found a TGT-to-TAT change at codon 55 resulting in substitution of tyrosine for cysteine. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0021 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, ALA206THR
<br />
SNP: rs28940880,
gnomAD: rs28940880,
ClinVar: RCV000003994, RCV000085958, RCV003460419
</span>
</div>
<div>
<span class="mim-text-font">
<p>In a patient with type IA OCA (OCA1A; 203100), King et al. (1991) found a GCT-to-ACT change at codon 206 resulting in substitution of threonine for alanine. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0022 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, GLY419ARG
<br />
SNP: rs61754392,
gnomAD: rs61754392,
ClinVar: RCV000003995, RCV000085914, RCV000755080, RCV001554298, RCV002490305, RCV003460420
</span>
</div>
<div>
<span class="mim-text-font">
<p>In a patient with type IA OCA (OCA1A; 203100), King et al. (1991) found a GGA-to-AGA change at codon 419 resulting in substitution of arginine for glycine. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0023 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, PRO21SER
<br />
SNP: rs61753178,
gnomAD: rs61753178,
ClinVar: RCV000003996, RCV000085959, RCV004566679, RCV004783717, RCV005003328
</span>
</div>
<div>
<span class="mim-text-font">
<p>In a Caucasian girl with type IA OCA (OCA1A; 203100) Tripathi et al. (1992) identified a CCT(pro)-to-TCT(ser) mutation at codon 21 of the TYR gene, resulting in a pro21-to-ser (P21S) substitution. The P21S mutation was found in compound heterozygosity with a 1-bp deletion (CTT to CT) (606933.0029) in codon 388, which created a frameshift. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0024 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
ALBINISM, OCULOCUTANEOUS, TYPE IB, INCLUDED
</span>
</div>
<div>
<span class="mim-text-font">
TYR, GLY47ASP
<br />
SNP: rs61753180,
gnomAD: rs61753180,
ClinVar: RCV000003997, RCV000003998, RCV000085925, RCV000763287, RCV001267064, RCV003460421, RCV004532284, RCV005007818
</span>
</div>
<div>
<span class="mim-text-font">
<p>See Tripathi et al. (1992) for the GGC(gly)-to-GAC(asp) mutation at codon 47. Oetting et al. (1993) found this mutation to be frequent among albinos in Puerto Rico. They found the G47D mutation in homozygous state in 9 of 12 unrelated Puerto Ricans with type IA oculocutaneous albinism (OCA1A; 203100). Two other individuals were heterozygous for the mutation; 1 of these had the T373K mutation (606933.0003) in the homologous allele. One of the individuals with Negroid features was homozygous for a W236X mutation (606933.0035). Because of the migration between Puerto Rico and the Canary Islands, 3 persons with OCA from the Canary Islands were analyzed. One was a genetic compound for the G47D mutation and a novel L216M mutation (606933.0036), one was homozygous for the P81L mutation (606933.0002), and one was heterozygous for the P81L mutation. Haplotype analysis in the Puerto Rican cases showed that the G47D mutation occurred on a single haplotype, consistent with a common ancestor for all individuals having this mutation. Two different haplotypes were found associated with the P81L mutation, suggesting that this may be either a recurring mutation for the tyrosinase gene or a recombination between haplotypes. </p><p>Chiang et al. (2008) reported a Hispanic family in which 2 sibs had variable manifestations of OCA1B (606952). A 6-year-old boy had nystagmus, decreased vision, light hair, light skin color, and foveal hypoplasia. His sister had exotropia, blonde hair, light skin color, and brown irides with no history of nystagmus, foveal hypoplasia or decreased vision. Genetic analysis identified compound heterozygosity for 2 variants in the TYR gene: G47D and the hypomorphic allele R402Q (606933.0009). Each unaffected parent was heterozygous for 1 of the variants. Chiang et al. (2008) postulated that the clinical spectrum of OCA depends on a pigmentation threshold of the affected individual, and that OCA is a quantitative trait disorder with phenotypic variation in individuals of different ethnic backgrounds. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0025 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, ARG217TRP
<br />
SNP: rs63159160,
gnomAD: rs63159160,
ClinVar: RCV000003999, RCV000085962, RCV000755070, RCV000763290, RCV001332387, RCV003460422, RCV004795373, RCV005003329
</span>
</div>
<div>
<span class="mim-text-font">
<p>See Tripathi et al. (1992) for the CGG(arg)-to-TGG(trp) mutation at codon 217 found in patients with oculocutaneous albinism type 1A (OCA1A; 203100). </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0026 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, ARG299HIS
<br />
SNP: rs61754375,
gnomAD: rs61754375,
ClinVar: RCV000004000, RCV000085979, RCV000755072, RCV003156055, RCV003460423, RCV003488321, RCV003492282, RCV005007819
</span>
</div>
<div>
<span class="mim-text-font">
<p>See Tripathi et al. (1992) for the CGT(arg)-to-CAT(his) mutation at codon 299 found in patients with oculocutaneous albinism type 1A (OCA1A; 203100). </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0027 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, 1-BP INS, C, CODON 310
<br />
ClinVar: RCV000003969, RCV000085980, RCV000623277, RCV003460412, RCV004739286, RCV004795370, RCV005003326
</span>
</div>
<div>
<span class="mim-text-font">
<p>See Tripathi et al. (1992) for the frameshift mutation in codon 310, converting CCA (pro) to CCCA, in patients with oculocutaneous albinism type 1A (OCA1A; 203100). </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0028 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, ASN371THR
<br />
SNP: rs61754387,
gnomAD: rs61754387,
ClinVar: RCV000004002, RCV000085897, RCV004526588, RCV004739289, RCV005007820
</span>
</div>
<div>
<span class="mim-text-font">
<p>Tripathi et al. (1992) described an AAT-to-ACT transversion converting asparagine-371 to threonine found in patients with oculocutaneous albinism type 1A (OCA1A; 203100). </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0029 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, 1-BP DEL, T, CODON 388
<br />
SNP: rs281865522,
ClinVar: RCV000004003, RCV000085905, RCV005003330
</span>
</div>
<div>
<span class="mim-text-font">
<p>For discussion of a 1-bp deletion in codon 388 of the TYR gene that was found in compound heterozygous state in a patient with oculocutaneous albinism type 1A (OCA1A; 203100) by Tripathi et al. (1992), see 203100.0023. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0030 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, ARG403SER
<br />
SNP: rs104894316,
gnomAD: rs104894316,
ClinVar: RCV000004004, RCV000085911, RCV003387715, RCV003466802, RCV005007821
</span>
</div>
<div>
<span class="mim-text-font">
<p>See Tripathi et al. (1992) for the AGG (arg)-to-AGT (ser) mutation in codon 403. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0031 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, GLY446SER
<br />
SNP: rs104894317,
gnomAD: rs104894317,
ClinVar: RCV000004005, RCV000085920, RCV000602413, RCV002496250, RCV003325937, RCV003466803, RCV004540988
</span>
</div>
<div>
<span class="mim-text-font">
<p>See Tripathi et al. (1992) for the GGC(gly)-to-AGC(ser) mutation in codon 446. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0032 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, ASP448ASN
<br />
SNP: rs104894318,
gnomAD: rs104894318,
ClinVar: RCV000004006, RCV000085921, RCV004566680, RCV005003331
</span>
</div>
<div>
<span class="mim-text-font">
<p>See Tripathi et al. (1992) for the GAC(asp)-to-AAC(asn) mutation in codon 448. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0033 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, THR489FS, 1-BP INS
<br />
SNP: rs61754399,
ClinVar: RCV000004007, RCV000085926, RCV002496251, RCV003225016, RCV003466804, RCV004739290, RCV004782008
</span>
</div>
<div>
<span class="mim-text-font">
<p>See Tripathi et al. (1992) for the 1-bp insertion converting codon 489 from ACT(thr) to ACTT and creating a frameshift. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0034 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, 1-BP INS, C, CODON 501
<br />
SNP: rs281865328,
ClinVar: RCV000004008, RCV000085928
</span>
</div>
<div>
<span class="mim-text-font">
<p>See Tripathi et al. (1992) for the 1-bp insertion converting codon 501 from CGT(arg) to CCGT and creating a frameshift. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0035 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, TRP236TER
<br />
SNP: rs61754367,
ClinVar: RCV000004009, RCV000085966
</span>
</div>
<div>
<span class="mim-text-font">
<p>Among 12 unrelated Puerto Rican individuals with OCA IA (203100) in Puerto Rico, Oetting et al. (1993) found that 1 who had Negroid features was homozygous for a nonsense mutation: W236X. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0036 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, LEU216MET
<br />
SNP: rs61754363,
gnomAD: rs61754363,
ClinVar: RCV000004010, RCV000085960, RCV003488322
</span>
</div>
<div>
<span class="mim-text-font">
<p>Oetting et al. (1993) found that 1 of 3 individuals with OCA (203100) from the Canary Islands was a genetic compound for the G47D mutation (606933.0024) and for a novel missense mutation, L216M. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0037 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IB</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, MET1VAL
<br />
SNP: rs28940881,
gnomAD: rs28940881,
ClinVar: RCV000004011, RCV000085931, RCV000193173, RCV000626675, RCV000626676, RCV000626677, RCV000763286, RCV001836693, RCV002466393, RCV004739291
</span>
</div>
<div>
<span class="mim-text-font">
<p>In an analysis of 12 unrelated patients with autosomal recessive oculocutaneous albinism type IB (606952), Fukai et al. (1995) found 2 patients that had abnormalities of the tyrosinase gene. Each was a compound heterozygote for a different pathologic mutant allele and an allele containing a 'normal' polymorphism, arg402-to-gln (606933.0009), which resulted in a tyrosinase polypeptide with reduced thermal stability. These patients had a clinically mild form of OCA1B, with a fixed visual deficit resulting from low tyrosinase activity during fetal development but with normal pigmentation of the skin and hair postnatally. The pathologic mutation in 1 of the patients was cys55 to tyr (606933.0020). The second patient was heterozygous for a novel missense substitution involving the translational initiation codon, met1 to val (ATG to GTG). </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0038 &nbsp; ALBINISM, OCULOCUTANEOUS, TYPE IA</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
TYR, CYS91TYR ({dbSNP rs137854890})
<br />
SNP: rs137854890,
gnomAD: rs137854890,
ClinVar: RCV000033111, RCV002513316, RCV003466887
</span>
</div>
<div>
<span class="mim-text-font">
<p>Among 1,281 Schmiedeleut (S-leut) Hutterites from the United States, Chong et al. (2012) identified 180 heterozygotes and 3 homozygotes for a G-to-A transition at nucleotide 272 of the TYR gene, resulting in a cys-to-tyr substitution at codon 91 (C91Y). The C91Y mutation resulting in oculocutaneous albinism type IA (203100) was determined to be a private mutation among the Hutterites with a carrier frequency of 0.141, or 1 in 7. </p>
</span>
</div>
<div>
<br />
</div>
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Bard, L. A.
<strong>Heterogeneity in Waardenburg&#x27;s syndrome: report of a family with ocular albinism.</strong>
Arch. Ophthal. 96: 1193-1198, 1978.
[PubMed: 666627]
[Full Text: https://doi.org/10.1001/archopht.1978.03910060027006]
</p>
</li>
<li>
<p class="mim-text-font">
Barton, D. E., Kwon, B. S., Francke, U.
<strong>Human tyrosinase gene, mapped to chromosome 11 (q14-q21), defines second region of homology with mouse chromosome 7.</strong>
Genomics 3: 17-24, 1988.
[PubMed: 3146546]
[Full Text: https://doi.org/10.1016/0888-7543(88)90153-x]
</p>
</li>
<li>
<p class="mim-text-font">
Berson, J. F., Frank, D. W., Calvo, P. A., Bieler, B. M., Marks, M. S.
<strong>A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature.</strong>
J. Biol. Chem. 275: 12281-12289, 2000.
[PubMed: 10766867]
[Full Text: https://doi.org/10.1074/jbc.275.16.12281]
</p>
</li>
<li>
<p class="mim-text-font">
Bishop, D. T., Demenais, F., Iles, M. M., Harland, M., Taylor, J. C., Corda, E., Randerson-Moor, J., Aitken, J. F., Avril, M.-F., Azizi, E., Bakker, B., Bianchi-Scarra, G., and 41 others.
<strong>Genome-wide association study identifies three loci associated with melanoma risk.</strong>
Nature Genet. 41: 920-925, 2009.
[PubMed: 19578364]
[Full Text: https://doi.org/10.1038/ng.411]
</p>
</li>
<li>
<p class="mim-text-font">
Chiang, P.-W., Drautz, J. M., Tsai, A. C.-H., Spector, E., Clericuzio, C. L.
<strong>A new hypothesis of OCA1B. (Letter)</strong>
Am. J. Med. Genet. 146A: 2968-2970, 2008.
[PubMed: 18925668]
[Full Text: https://doi.org/10.1002/ajmg.a.32539]
</p>
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<li>
<p class="mim-text-font">
Chiang, P.-W., Spector, E., Tsai, A. C.-H.
<strong>Oculocutaneous albinism spectrum. (Letter)</strong>
Am. J. Med. Genet. 149A: 1590-1591, 2009.
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[Full Text: https://doi.org/10.1002/ajmg.a.32939]
</p>
</li>
<li>
<p class="mim-text-font">
Chong, J. X., Ouwenga, R., Anderson, R. L., Waggoner, D. J., Ober, C.
<strong>A population-based study of autosomal-recessive disease-causing mutations in a founder population.</strong>
Am. J. Hum. Genet. 91: 608-620, 2012.
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.08.007]
</p>
</li>
<li>
<p class="mim-text-font">
Fukai, K., Holmes, S. A., Lucchese, N. J., Siu, V. M., Weleber, R. G., Schnur, R. E., Spritz, R. A.
<strong>Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.</strong>
Nature Genet. 9: 92-95, 1995.
[PubMed: 7704033]
[Full Text: https://doi.org/10.1038/ng0195-92]
</p>
</li>
<li>
<p class="mim-text-font">
Giebel, L. B., Musarella, M. A., Spritz, R. A.
<strong>A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.</strong>
J. Med. Genet. 28: 464-467, 1991.
[PubMed: 1832718]
[Full Text: https://doi.org/10.1136/jmg.28.7.464]
</p>
</li>
<li>
<p class="mim-text-font">
Giebel, L. B., Spritz, R. A.
<strong>RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR.</strong>
Nucleic Acids Res. 18: 3103, 1990.
[PubMed: 1971925]
[Full Text: https://doi.org/10.1093/nar/18.10.3103-a]
</p>
</li>
<li>
<p class="mim-text-font">
Giebel, L. B., Strunk, K. M., Jackson, C. E., Hanifin, J. M., King, R. A., Spritz, R. A.
<strong>Tyrosinase gene mutations in patients with type IB (&#x27;yellow&#x27;) oculocutaneous albinism. (Abstract)</strong>
Am. J. Hum. Genet. 47 (suppl.): A156, 1990.
</p>
</li>
<li>
<p class="mim-text-font">
Giebel, L. B., Strunk, K. M., Spritz, R. A.
<strong>Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment.</strong>
Genomics 9: 435-445, 1991.
[PubMed: 1903356]
[Full Text: https://doi.org/10.1016/0888-7543(91)90409-8]
</p>
</li>
<li>
<p class="mim-text-font">
Gudbjartsson, D. F., Sulem, P., Stacey, S. N., Goldstein, A. M., Rafner, T., Sigurgeirsson, B., Benediktsdottir, K. R., Thorisdottir, K., Ragnarsson, R., Sveinsdottir, S. G., Magnusson, V., Lindblom, A., and 26 others.
<strong>ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.</strong>
Nature Genet. 40: 886-891, 2008. Note: Erratum: Nature Genet. 40: 1029 only, 2008.
[PubMed: 18488027]
[Full Text: https://doi.org/10.1038/ng.161]
</p>
</li>
<li>
<p class="mim-text-font">
Hutton, S. M., Spritz, R. A.
<strong>A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.</strong>
Invest. Ophthal. Vis. Sci. 49: 868-872, 2008.
[PubMed: 18326704]
[Full Text: https://doi.org/10.1167/iovs.07-0791]
</p>
</li>
<li>
<p class="mim-text-font">
Jackson, I. J., Bennett, D. C.
<strong>Identification of the albino mutation of mouse tyrosinase by analysis of an in vitro revertant.</strong>
Proc. Nat. Acad. Sci. 87: 7010-7014, 1990.
[PubMed: 2119500]
[Full Text: https://doi.org/10.1073/pnas.87.18.7010]
</p>
</li>
<li>
<p class="mim-text-font">
Kikuchi, H., Hara, S., Ishiguro, S., Tamai, M., Watanabe, M.
<strong>Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.</strong>
Hum. Genet. 85: 123-124, 1990.
[PubMed: 2113511]
[Full Text: https://doi.org/10.1007/BF00276337]
</p>
</li>
<li>
<p class="mim-text-font">
King, R. A., Mentink, M. M., Oetting, W. S.
<strong>Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.</strong>
Molec. Biol. Med. 8: 19-29, 1991.
[PubMed: 1943686]
</p>
</li>
<li>
<p class="mim-text-font">
King, R. A., Townsend, D., Oetting, W. S., Spritz, R. A.
<strong>An unusual pigment pattern in type I oculocutaneous albinism (OCA) resulting from a temperature-sensitive enzyme. (Abstract)</strong>
Am. J. Hum. Genet. 45 (suppl.): A8, 1989.
</p>
</li>
<li>
<p class="mim-text-font">
King, R. A., Townsend, D., Oetting, W., Summers, C. G., Olds, D. P., White, J. G., Spritz, R. A.
<strong>Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.</strong>
J. Clin. Invest. 87: 1046-1053, 1991.
[PubMed: 1900307]
[Full Text: https://doi.org/10.1172/JCI115064]
</p>
</li>
<li>
<p class="mim-text-font">
Kwon, B. S., Halaban, R., Chintamaneni, C.
<strong>Molecular basis of mouse Himalayan mutation.</strong>
Biochem. Biophys. Res. Commun. 161: 252-260, 1989.
[PubMed: 2567165]
[Full Text: https://doi.org/10.1016/0006-291x(89)91588-x]
</p>
</li>
<li>
<p class="mim-text-font">
Kwon, B. S., Haq, A. K., Pomerantz, S. H., Halaban, R.
<strong>Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.</strong>
Proc. Nat. Acad. Sci. 84: 7473-7477, 1987. Note: Erratum: Proc. Nat. Acad. Sci. 85: 6352 only, 1988.
[PubMed: 2823263]
[Full Text: https://doi.org/10.1073/pnas.84.21.7473]
</p>
</li>
<li>
<p class="mim-text-font">
Kwon, B. S., Haq, A. K., Wakulchik, M., Kestler, D., Barton, D. E., Francke, U., Lamoreux, M. L., Whitney, J. B., III, Halaban, R.
<strong>Isolation, chromosomal mapping, and expression of the mouse tyrosinase gene.</strong>
J. Invest. Derm. 93: 589-594, 1989.
[PubMed: 2507645]
[Full Text: https://doi.org/10.1111/1523-1747.ep12319693]
</p>
</li>
<li>
<p class="mim-text-font">
Kwon, B. S., Wakulchik, M., Haq, A. K., Halaban, R., Kestler, D.
<strong>Sequence analysis of mouse tyrosinase cDNA and the effect of melanotropin on its gene expression.</strong>
Biochem. Biophys. Res. Commun. 153: 1301-1309, 1988.
[PubMed: 3134020]
[Full Text: https://doi.org/10.1016/s0006-291x(88)81370-6]
</p>
</li>
<li>
<p class="mim-text-font">
Morell, R., Spritz, R. A., Ho, L., Pierpont, J., Guo, W., Friedman, T. B., Asher, J. H., Jr.
<strong>Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).</strong>
Hum. Molec. Genet. 6: 659-664, 1997.
[PubMed: 9158138]
[Full Text: https://doi.org/10.1093/hmg/6.5.659]
</p>
</li>
<li>
<p class="mim-text-font">
Nance, W. E., Jackson, C. E., Witkop, C. J., Jr.
<strong>Amish albinism: a distinctive autosomal recessive phenotype.</strong>
Am. J. Hum. Genet. 22: 579-586, 1970.
[PubMed: 5516239]
</p>
</li>
<li>
<p class="mim-text-font">
Oetting, W. S., King, R. A.
<strong>Mutations within the promoter region of the tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. (Abstract)</strong>
Clin. Res. 39: 267A, 1991.
</p>
</li>
<li>
<p class="mim-text-font">
Oetting, W. S., King, R. A.
<strong>Molecular analysis of type I-A (tyrosine negative) oculocutaneous albinism.</strong>
Hum. Genet. 90: 258-262, 1992.
[PubMed: 1487241]
[Full Text: https://doi.org/10.1007/BF00220074]
</p>
</li>
<li>
<p class="mim-text-font">
Oetting, W. S., King, R. A.
<strong>Molecular basis of type I (tryrosinase (sic)-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.</strong>
Hum. Mutat. 2: 1-6, 1993.
[PubMed: 8477259]
[Full Text: https://doi.org/10.1002/humu.1380020102]
</p>
</li>
<li>
<p class="mim-text-font">
Oetting, W. S., King, R. A.
<strong>Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.</strong>
Hum. Mutat. 13: 99-115, 1999.
[PubMed: 10094567]
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1999)13:2&lt;99::AID-HUMU2&gt;3.0.CO;2-C]
</p>
</li>
<li>
<p class="mim-text-font">
Oetting, W. S., Mentink, M. M., Summers, C. G., Lewis, R. A., White, J. G., King, R. A.
<strong>Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.</strong>
Am. J. Hum. Genet. 49: 199-206, 1991.
[PubMed: 1905879]
</p>
</li>
<li>
<p class="mim-text-font">
Oetting, W. S., Pietsch, J., Brott, M. J., Savage, S., Fryer, J. P., Summers, C. G., King, R. A.
<strong>The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.</strong>
Am. J. Med. Genet. 149A: 466-469, 2009.
[PubMed: 19208379]
[Full Text: https://doi.org/10.1002/ajmg.a.32654]
</p>
</li>
<li>
<p class="mim-text-font">
Oetting, W. S., Witkop, C. J., Jr., Brown, S. A., Colomer, R., Fryer, J. P., Bloom, K. E., King, R. A.
<strong>A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.</strong>
Am. J. Hum. Genet. 52: 17-23, 1993.
[PubMed: 8434585]
</p>
</li>
<li>
<p class="mim-text-font">
Page-McCaw, P. S., Chung, S. C., Muto, A., Roeser, T., Staub, W., Finger-Baier, K. C., Korenbrot, J. I., Baier, H.
<strong>Retinal network adaptation to bright light requires tyrosinase.</strong>
Nature Neurosci. 7: 1329-1336, 2004.
[PubMed: 15516923]
[Full Text: https://doi.org/10.1038/nn1344]
</p>
</li>
<li>
<p class="mim-text-font">
Passmore, L. A., Kaesmann-Kellner, B., Weber, B. H. F.
<strong>Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.</strong>
Hum. Genet. 105: 200-210, 1999.
[PubMed: 10987646]
[Full Text: https://doi.org/10.1007/s004390051090]
</p>
</li>
<li>
<p class="mim-text-font">
Petris, M. J., Strausak, D., Mercer, J. F. B.
<strong>The Menkes copper transporter is required for the activation of tyrosinase.</strong>
Hum. Molec. Genet. 9: 2845-2851, 2000.
[PubMed: 11092760]
[Full Text: https://doi.org/10.1093/hmg/9.19.2845]
</p>
</li>
<li>
<p class="mim-text-font">
Polanowski, A. M., Robinson-Laverick, S. M., Paton, D., Jarman, S. N.
<strong>Variation in the tyrosinase gene associated with a white humpback whale (Megaptera novaeangliae).</strong>
J. Hered. 103: 130-133, 2012.
[PubMed: 22140253]
[Full Text: https://doi.org/10.1093/jhered/esr108]
</p>
</li>
<li>
<p class="mim-text-font">
Ponnazhagan, S., Hou, L., Kwon, B. S.
<strong>Structural organization of the human tyrosinase gene and sequence analysis and characterization of its promoter region.</strong>
J. Invest. Derm. 102: 744-748, 1994.
[PubMed: 8176257]
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