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Entry
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- *590085 - TRANSFER RNA, MITOCHONDRIAL, SERINE, 2; MTTS2
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- OMIM
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<p>
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<span class="h4">*590085</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/590085">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</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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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000210184;t=-" 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>
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<div><a href="https://mitomap.org/bin/view.pl/Main/SearchSite?search=MT-TS2" class="mim-tip-hint" title="A curated repository of published and unpublished data on human mitochondrial DNA variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MITOMAP', 'domain': 'mitomap.org'})">MITOMAP</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=4575" 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>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=590085" 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>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000210184;t=-" 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</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=590085" 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">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div><a href="https://www.proteinatlas.org/search/MT-TS2" 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>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=4575" 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>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000210184;t=-" 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>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=MT-TS2" 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>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=MT-TS2" 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>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+4575" 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>
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<dd><a href="http://v1.marrvel.org/search/gene/MT-TS2" 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>
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<dd><a href="https://monarchinitiative.org/NCBIGene:4575" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4575" 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>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:7498" 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>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=590085[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>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=590085[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>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000210184" 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>
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<div><a href="https://www.gwascentral.org/search?q=MT-TS2" 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 </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=MT-TS2" 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>
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<div><a href="http://www.retina-international.org/files/sci-news/mttsmut.htm" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MT-TS2&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>
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<div><a href="https://www.pharmgkb.org/gene/PA31301" 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>
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/gene/HGNC:7498" 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>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:102474" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/MT-TS2#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>
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<div><a href="http://www.informatics.jax.org/marker/MGI:102474" 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>
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<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>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4575/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>
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<div><a href="https://www.orthodb.org/?ncbi=4575" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div style="display: table-cell;">Cellular Pathways</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4575" 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>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 57838006<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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590085
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</span>
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TRANSFER RNA, MITOCHONDRIAL, SERINE, 2; MTTS2
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<br />
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<em>Alternative titles; symbols</em>
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tRNA-SER, MITOCHONDRIAL, 2
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MT-TS2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MT-TS2</a></em></strong>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>The mitochondrial tRNA for serine (AGY) is encoded by nucleotides 12207-12265.</p>
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<br />
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>2 Selected Examples</a>):</strong>
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<a href="/allelicVariants/590085" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=590085[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 CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS</strong>
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RETINITIS PIGMENTOSA-DEAFNESS SYNDROME, INCLUDED<br />
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RP21, INCLUDED
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MTTS2, 12258C-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">rs118203888 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203888;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=rs118203888" 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=rs118203888" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010170 OR RCV000010171 OR RCV003162227" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010170, RCV000010171, RCV003162227" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010170...</a>
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<p>A 3243G-A mutation in the mitochondrial gene encoding tRNA for leucine(UUR) (<a href="/entry/590050#0001">590050.0001</a>) is a frequently encountered change associated with diabetes mellitus. <a href="#1" class="mim-tip-reference" title="Lynn, S., Wardell, T., Johnson, M. A., Chinnery, P. F., Daly, M. E., Walker, M., Turnbull, D. M. <strong>Mitochondrial diabetes: investigation and identification of a novel mutation.</strong> Diabetes 47: 1800-1802, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792552</a>] [<a href="https://doi.org/10.2337/diabetes.47.11.1800" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792552">Lynn et al. (1998)</a> described a family with extensive maternal transmission of cerebellar ataxia, cataracts, and diabetes, together with a mutation in the MTTS2 gene: 12258C-A. The index case was a 61-year-old woman who developed cataracts at 30 years of age, deafness at 39 years of age, and cerebellar ataxia at 57 years of age. Diabetes was diagnosed at 60 years of age and at the time of report was treated with gliclazide orally. She was lean, with a body mass index of 18 kg/m2. Her daughter was 30 years old at the time of report and developed deafness and cataracts in her early twenties. She was found to have impaired glucose tolerance. The 12258C-A mutation was heteroplasmic in both the mother and the daughter. Mutant mtDNA was highest in the muscle of the daughter (85%) compared with that of the mother (68.4%). Using the mismatch PCR technique, <a href="#1" class="mim-tip-reference" title="Lynn, S., Wardell, T., Johnson, M. A., Chinnery, P. F., Daly, M. E., Walker, M., Turnbull, D. M. <strong>Mitochondrial diabetes: investigation and identification of a novel mutation.</strong> Diabetes 47: 1800-1802, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792552</a>] [<a href="https://doi.org/10.2337/diabetes.47.11.1800" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792552">Lynn et al. (1998)</a> found that the mutation accounted for 19.4% of the MTTS2 gene in the blood of the mother and 45% in the daughter. The mutation was not detected in 100 unrelated nondiabetic control subjects. The mutation was considered pathogenic for 3 reasons. It was heteroplasmic and had higher levels in muscle than in blood. The C-to-A transversion altered a highly conserved basepair in the acceptor stem of tRNA(ser) and would be expected to effect both secondary and tertiary structure as well as the function of this tRNA. The mutated DNA was at much higher levels in the COX-negative compared with the COX-positive fibers. This evidence confirmed that the mutation causes the observed biochemical defect in the muscle and presumably in the pancreatic beta cells, since insulin secretion is heavily dependent on oxidative metabolism, and mitochondrial dysfunction will impair insulin secretion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792552" 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="Mansergh, F. C., Millington-Ward, S., Kennan, A., Kiang, A.-S., Humphries, M., Farrar, G. J., Humphries, P., Kenna, P. F. <strong>Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene.</strong> Am. J. Hum. Genet. 64: 971-985, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10090882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10090882</a>] [<a href="https://doi.org/10.1086/302344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10090882">Mansergh et al. (1999)</a> described a large Irish kindred that segregated progressive sensorineural hearing loss and retinitis pigmentosa (<a href="/entry/500004">500004</a>). The symptoms in this family were almost identical to those observed in Usher syndrome type III (USH3; <a href="/entry/276902">276902</a>). Unlike that in USH3, however, the inheritance pattern in the Irish family was compatible with autosomal dominant, X-linked dominant, or maternal inheritance. Prior linkage studies had resulted in exclusion of most candidate loci and more than 90% of the genome. A tentative location for a causative nuclear gene had been established on 9q; however, no markers were found at zero recombination with respect to the disease gene. The marked variability in symptoms, together with the observation of subclinical muscle abnormalities in a single muscle biopsy, stimulated sequencing of the entire mtDNA in affected and unaffected individuals. This revealed a number of previously reported polymorphisms and/or silent substitutions. However, a C-to-A transversion at position 12258 in the MTTS2 gene was heteroplasmic and was found in family members only. This sequence change was not present in 270 normal individuals from the same ethnic background. The consensus C at this position is highly conserved and is present in species as divergent from Homo sapiens as vulture and platypus. The mutation was thought to disrupt the amino acid-receptor stem of the tRNA molecule, affecting aminoacylation of the tRNA and thereby reducing the efficiency and accuracy of mitochondrial translation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10090882" 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 MERRF/MELAS OVERLAP SYNDROME</strong>
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MTTS2, 12207G-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">rs118203889 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203889;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=rs118203889" 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=rs118203889" 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=RCV000010173 OR RCV002247285" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010173, RCV002247285" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010173...</a>
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<p><a href="#3" class="mim-tip-reference" title="Wong, L.-J. C., Yim, D., Bai, R.-K., Kwon, H., Vacek, M. M., Zane, J., Hoppel, C. L., Kerr, D. S. <strong>A novel mutation in the mitochondrial tRNA-ser(AGY) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency.</strong> J. Med. Genet. 43: e46, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16950817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16950817</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16950817[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2005.040626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16950817">Wong et al. (2006)</a> identified a heteroplasmic 12207G-A transition in the MTTS2 gene in a girl with clinical features of both MERRF (<a href="/entry/545000">545000</a>) and MELAS (<a href="/entry/540000">540000</a>) syndromes. Skeletal muscle studies showed ragged red fibers, significant pleomorphic mitochondrial proliferation, complex I deficiency (see <a href="/entry/252010">252010</a>), and 92% mutation load. The 12207G-A mutation occurs at the first nucleotide of the 5-prime end of the molecule, which is involved in the formation of the stem region of the amino acid acceptor arm. The mutation was not found in the unaffected mother's peripheral blood or hair follicles nor in 200 controls. <a href="#3" class="mim-tip-reference" title="Wong, L.-J. C., Yim, D., Bai, R.-K., Kwon, H., Vacek, M. M., Zane, J., Hoppel, C. L., Kerr, D. S. <strong>A novel mutation in the mitochondrial tRNA-ser(AGY) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency.</strong> J. Med. Genet. 43: e46, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16950817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16950817</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16950817[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2005.040626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16950817">Wong et al. (2006)</a> suggested that the mutation likely affects proper processing of the precursor MTTS2 mRNA and may also affect neighboring genes. Clinically, the patient showed severe developmental delay, feeding difficulties, recurrent infections, basal ganglia lesions, cerebral atrophy, proximal muscle weakness, increased serum lactate, and liver dysfunction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16950817" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Lynn1998" class="mim-anchor"></a>
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Lynn, S., Wardell, T., Johnson, M. A., Chinnery, P. F., Daly, M. E., Walker, M., Turnbull, D. M.
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<strong>Mitochondrial diabetes: investigation and identification of a novel mutation.</strong>
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Diabetes 47: 1800-1802, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792552</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.2337/diabetes.47.11.1800" target="_blank">Full Text</a>]
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<a id="Mansergh1999" class="mim-anchor"></a>
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Mansergh, F. C., Millington-Ward, S., Kennan, A., Kiang, A.-S., Humphries, M., Farrar, G. J., Humphries, P., Kenna, P. F.
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<strong>Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene.</strong>
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Am. J. Hum. Genet. 64: 971-985, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10090882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10090882</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10090882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302344" target="_blank">Full Text</a>]
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<a id="Wong2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wong, L.-J. C., Yim, D., Bai, R.-K., Kwon, H., Vacek, M. M., Zane, J., Hoppel, C. L., Kerr, D. S.
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<strong>A novel mutation in the mitochondrial tRNA-ser(AGY) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency.</strong>
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J. Med. Genet. 43: e46, 2006. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16950817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16950817</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16950817[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=16950817" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2005.040626" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 2/15/2007
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<span class="mim-text-font">
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Victor A. McKusick - updated : 4/9/1999<br>Victor A. McKusick - updated : 2/3/1999
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Victor A. McKusick : 3/2/1993
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alopez : 02/18/2009
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wwang : 2/19/2007<br>ckniffin : 2/15/2007<br>carol : 9/24/2004<br>carol : 4/9/1999<br>carol : 2/12/1999<br>terry : 2/3/1999<br>carol : 5/26/1993<br>carol : 5/17/1993<br>carol : 3/2/1993
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<strong>*</strong> 590085
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TRANSFER RNA, MITOCHONDRIAL, SERINE, 2; MTTS2
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tRNA-SER, MITOCHONDRIAL, 2
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<p>The mitochondrial tRNA for serine (AGY) is encoded by nucleotides 12207-12265.</p>
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<strong>.0001 CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS</strong>
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RETINITIS PIGMENTOSA-DEAFNESS SYNDROME, INCLUDED<br />
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MTTS2, 12258C-A
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SNP: rs118203888,
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ClinVar: RCV000010170, RCV000010171, RCV003162227
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<p>A 3243G-A mutation in the mitochondrial gene encoding tRNA for leucine(UUR) (590050.0001) is a frequently encountered change associated with diabetes mellitus. Lynn et al. (1998) described a family with extensive maternal transmission of cerebellar ataxia, cataracts, and diabetes, together with a mutation in the MTTS2 gene: 12258C-A. The index case was a 61-year-old woman who developed cataracts at 30 years of age, deafness at 39 years of age, and cerebellar ataxia at 57 years of age. Diabetes was diagnosed at 60 years of age and at the time of report was treated with gliclazide orally. She was lean, with a body mass index of 18 kg/m2. Her daughter was 30 years old at the time of report and developed deafness and cataracts in her early twenties. She was found to have impaired glucose tolerance. The 12258C-A mutation was heteroplasmic in both the mother and the daughter. Mutant mtDNA was highest in the muscle of the daughter (85%) compared with that of the mother (68.4%). Using the mismatch PCR technique, Lynn et al. (1998) found that the mutation accounted for 19.4% of the MTTS2 gene in the blood of the mother and 45% in the daughter. The mutation was not detected in 100 unrelated nondiabetic control subjects. The mutation was considered pathogenic for 3 reasons. It was heteroplasmic and had higher levels in muscle than in blood. The C-to-A transversion altered a highly conserved basepair in the acceptor stem of tRNA(ser) and would be expected to effect both secondary and tertiary structure as well as the function of this tRNA. The mutated DNA was at much higher levels in the COX-negative compared with the COX-positive fibers. This evidence confirmed that the mutation causes the observed biochemical defect in the muscle and presumably in the pancreatic beta cells, since insulin secretion is heavily dependent on oxidative metabolism, and mitochondrial dysfunction will impair insulin secretion. </p><p>Mansergh et al. (1999) described a large Irish kindred that segregated progressive sensorineural hearing loss and retinitis pigmentosa (500004). The symptoms in this family were almost identical to those observed in Usher syndrome type III (USH3; 276902). Unlike that in USH3, however, the inheritance pattern in the Irish family was compatible with autosomal dominant, X-linked dominant, or maternal inheritance. Prior linkage studies had resulted in exclusion of most candidate loci and more than 90% of the genome. A tentative location for a causative nuclear gene had been established on 9q; however, no markers were found at zero recombination with respect to the disease gene. The marked variability in symptoms, together with the observation of subclinical muscle abnormalities in a single muscle biopsy, stimulated sequencing of the entire mtDNA in affected and unaffected individuals. This revealed a number of previously reported polymorphisms and/or silent substitutions. However, a C-to-A transversion at position 12258 in the MTTS2 gene was heteroplasmic and was found in family members only. This sequence change was not present in 270 normal individuals from the same ethnic background. The consensus C at this position is highly conserved and is present in species as divergent from Homo sapiens as vulture and platypus. The mutation was thought to disrupt the amino acid-receptor stem of the tRNA molecule, affecting aminoacylation of the tRNA and thereby reducing the efficiency and accuracy of mitochondrial translation. </p>
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<span class="mim-font">
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<strong>.0002 MERRF/MELAS OVERLAP SYNDROME</strong>
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<span class="mim-text-font">
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MTTS2, 12207G-A
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<br />
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SNP: rs118203889,
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ClinVar: RCV000010173, RCV002247285
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<p>Wong et al. (2006) identified a heteroplasmic 12207G-A transition in the MTTS2 gene in a girl with clinical features of both MERRF (545000) and MELAS (540000) syndromes. Skeletal muscle studies showed ragged red fibers, significant pleomorphic mitochondrial proliferation, complex I deficiency (see 252010), and 92% mutation load. The 12207G-A mutation occurs at the first nucleotide of the 5-prime end of the molecule, which is involved in the formation of the stem region of the amino acid acceptor arm. The mutation was not found in the unaffected mother's peripheral blood or hair follicles nor in 200 controls. Wong et al. (2006) suggested that the mutation likely affects proper processing of the precursor MTTS2 mRNA and may also affect neighboring genes. Clinically, the patient showed severe developmental delay, feeding difficulties, recurrent infections, basal ganglia lesions, cerebral atrophy, proximal muscle weakness, increased serum lactate, and liver dysfunction. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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<ol>
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Lynn, S., Wardell, T., Johnson, M. A., Chinnery, P. F., Daly, M. E., Walker, M., Turnbull, D. M.
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<strong>Mitochondrial diabetes: investigation and identification of a novel mutation.</strong>
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Diabetes 47: 1800-1802, 1998.
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[PubMed: 9792552]
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[Full Text: https://doi.org/10.2337/diabetes.47.11.1800]
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</li>
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<li>
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<p class="mim-text-font">
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Mansergh, F. C., Millington-Ward, S., Kennan, A., Kiang, A.-S., Humphries, M., Farrar, G. J., Humphries, P., Kenna, P. F.
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<strong>Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene.</strong>
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Am. J. Hum. Genet. 64: 971-985, 1999.
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[PubMed: 10090882]
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[Full Text: https://doi.org/10.1086/302344]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wong, L.-J. C., Yim, D., Bai, R.-K., Kwon, H., Vacek, M. M., Zane, J., Hoppel, C. L., Kerr, D. S.
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<strong>A novel mutation in the mitochondrial tRNA-ser(AGY) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency.</strong>
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J. Med. Genet. 43: e46, 2006. Note: Electronic Article.
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[PubMed: 16950817]
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[Full Text: https://doi.org/10.1136/jmg.2005.040626]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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<span class="text-nowrap mim-text-font">
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/15/2007<br>Victor A. McKusick - updated : 4/9/1999<br>Victor A. McKusick - updated : 2/3/1999
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</span>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 3/2/1993
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</span>
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</div>
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 02/18/2009<br>wwang : 2/19/2007<br>ckniffin : 2/15/2007<br>carol : 9/24/2004<br>carol : 4/9/1999<br>carol : 2/12/1999<br>terry : 2/3/1999<br>carol : 5/26/1993<br>carol : 5/17/1993<br>carol : 3/2/1993
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