3129 lines
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Entry
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- *606887 - SULFITE OXIDASE; SUOX
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*606887</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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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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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</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/606887">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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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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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 style="display: table-row">
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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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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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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="mimGenome">
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<span class="panel-title">
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<span class="small">
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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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</a>
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</span>
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</span>
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</div>
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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=ENSG00000139531;t=ENST00000266971" 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://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=6821" 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=606887" 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>
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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=ENSG00000139531;t=ENST00000266971" 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>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000456,NM_001032386,NM_001032387" 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>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001032386" 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>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=606887" 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>
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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="mimProtein">
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<span class="panel-title">
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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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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" 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://hprd.org/summary?hprd_id=06055&isoform_id=06055_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>
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<div><a href="https://www.proteinatlas.org/search/SUOX" 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><a href="https://www.ncbi.nlm.nih.gov/protein/508502,15858873,74099694,74099702,74099704,112180540,119617273,119617274,119617275,119617276,119617277,152031695,189053463,295849244,444737835" 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>
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<div><a href="https://www.uniprot.org/uniprotkb/P51687" 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>
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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="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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</span>
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</div>
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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=6821" 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=ENSG00000139531;t=ENST00000266971" 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=SUOX" 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=SUOX" 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+6821" 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/SUOX" 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:6821" 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/6821" 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><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr12&hgg_gene=ENST00000266971.8&hgg_start=55997276&hgg_end=56005525&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>
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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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</span>
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</span>
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</div>
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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:11460" 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://medlineplus.gov/genetics/gene/suox" 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>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606887[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>
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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="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=606887[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://www.deciphergenomics.org/gene/SUOX/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000139531" 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.ebi.ac.uk/gwas/search?query=SUOX" 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 </a></div>
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<div><a href="https://www.gwascentral.org/search?q=SUOX" 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=SUOX" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SUOX&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/PA36250" 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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</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="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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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-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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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="mimAnimalModelsLinksFold" 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.alliancegenome.org/gene/HGNC:11460" 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://flybase.org/reports/FBgn0030966.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2446117" 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/SUOX#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:2446117" 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/6821/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://omia.org/OMIA000059/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=6821" 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><a href="https://wormbase.org/db/gene/gene?name=WBGene00010397;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070718-3" 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>
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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="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" 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="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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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="mimCellularPathwaysLinksFold" 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.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6821" 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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<div><a href="https://reactome.org/content/query?q=SUOX&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>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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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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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 367368009<br />
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<strong>ICD10CM:</strong> E72.19<br />
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">ICD+</a>
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</div>
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<div>
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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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606887
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SULFITE OXIDASE; SUOX
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SUOX" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SUOX</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/12/492?start=-3&limit=10&highlight=492">12q13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:55997276-56005525&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'})">12:55,997,276-56,005,525</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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<a href="/geneMap/12/492?start=-3&limit=10&highlight=492">
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12q13.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Sulfite oxidase deficiency
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/272300"> 272300 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/606887" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/606887" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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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>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Sulfite oxidase (<a href="https://enzyme.expasy.org/EC/1.8.3.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 1.8.3.1</a>) is the terminal enzyme in the oxidative degradation pathway of sulfur-containing amino acids.</p>
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<p><a href="#2" class="mim-tip-reference" title="Garrett, R. M., Bellissimo, D. B., Rajagopalan, K. V. <strong>Molecular cloning of human liver sulfite oxidase.</strong> Biochim. Biophys. Acta 1262: 147-149, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7599189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7599189</a>] [<a href="https://doi.org/10.1016/0167-4781(95)00068-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7599189">Garrett et al. (1995)</a> isolated a 2.4-kb cDNA clone of sulfite oxidase from a human liver cDNA library. The deduced 488-amino acid protein has a molecular mass of approximately 52 kD and shows 88% homology to the rat protein and 67% homology to the chicken protein. Comparison of 3 sulfite oxidase sequences to several plant and fungal nitrate reductase sequences revealed a single conserved cysteine with highly conserved flanking sequences. <a href="#2" class="mim-tip-reference" title="Garrett, R. M., Bellissimo, D. B., Rajagopalan, K. V. <strong>Molecular cloning of human liver sulfite oxidase.</strong> Biochim. Biophys. Acta 1262: 147-149, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7599189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7599189</a>] [<a href="https://doi.org/10.1016/0167-4781(95)00068-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7599189">Garrett et al. (1995)</a> postulated that the conserved cysteine is a ligand of molybdenum in sulfite oxidase and nitrate reductase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7599189" 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 href="#7" class="mim-tip-reference" title="Kisker, C., Schindelin, H., Pacheco, A., Wehbi, W. A., Garrett, R. M., Rajagopalan, K. V., Enemark, J. H., Rees, D. C. <strong>Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase.</strong> Cell 91: 973-983, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9428520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9428520</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80488-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9428520">Kisker et al. (1997)</a> determined the crystal structure of chicken liver sulfite oxidase, which is homologous to the human protein, at 1.9-angstrom resolution. They found that each monomer of the dimeric enzyme consists of 3 domains. At the active site, the Mo is penta-coordinated by 3 sulfur ligands, 1 oxo group, and 1 water/hydroxo. A sulfate molecule adjacent to the Mo identifies the substrate binding pocket. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9428520" 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 href="#4" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 2/1/2018."None>Gross (2018)</a> mapped the SUOX gene to chromosome 12q13.2 based on an alignment of the SUOX sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AY056018" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AY056018</a>) with the genomic sequence (GRCh38).</p>
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<p><a href="#7" class="mim-tip-reference" title="Kisker, C., Schindelin, H., Pacheco, A., Wehbi, W. A., Garrett, R. M., Rajagopalan, K. V., Enemark, J. H., Rees, D. C. <strong>Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase.</strong> Cell 91: 973-983, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9428520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9428520</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80488-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9428520">Kisker et al. (1997)</a> characterized 4 missense mutations in the SUOX gene (<a href="#0001">606887.0001</a>-<a href="#0004">606887.0004</a>) in cell lines from patients with isolated sulfite oxidase deficiency (ISOD; <a href="/entry/272300">272300</a>). The crystallographic results predicted that 2 of these mutations (arg160 to gln, <a href="#0001">606887.0001</a> and ala208 to asp, <a href="#0002">606887.0002</a>) are near the sulfate-binding site, whereas the other mutations (ser370 to tyr, <a href="#0003">606887.0003</a> and gly473 to asp, <a href="#0004">606887.0004</a>) occur within the domain mediating dimerization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9428520" 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="Johnson, J. L., Coyne, K. E., Garrett, R. M., Zabot, M.-T., Dorche, C., Kisker, C., Rajagopalan, K. V. <strong>Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.(Abstract)</strong> Hum. Mutat. 20: 74 only, 2002."None>Johnson et al. (2002)</a> identified 12 novel mutations in the SUOX gene in patients with isolated sulfite oxidase deficiency. These included 2 frameshift mutations, 2 homozygous nonsense mutations, and 8 missense mutations.</p><p><a href="#8" class="mim-tip-reference" title="Seidahmed, M. Z., Alyamani, E. A., Rashed, M. S., Saadallah, A. A., Abdelbasit, O. B., Shaheed, M. M., Rasheed, A., Hamid, F. A., Sabry, M. A. <strong>Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.</strong> Am. J. Med. Genet. 136A: 205-209, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15952210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15952210</a>] [<a href="https://doi.org/10.1002/ajmg.a.30796" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15952210">Seidahmed et al. (2005)</a> identified a 1-bp deletion in the SUOX gene (<a href="#0005">606887.0005</a>) in a male infant with isolated sulfite oxidase deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15952210" 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>By direct sequencing of the SUOX gene in a Turkish boy, born of consanguineous parents, with ISOD, <a href="#1" class="mim-tip-reference" title="Bender, D., Kaczmarek, A. T., Santamaria-Araujo, J. A., Stueve, B., Waltz, S., Bartsch, D., Kurian, L., Cirak, S., Schwarz, G. <strong>Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.</strong> Hum. Molec. Genet. 28: 2885-2899, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31127934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31127934</a>] [<a href="https://doi.org/10.1093/hmg/ddz109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31127934">Bender et al. (2019)</a> identified a homozygous missense mutation (G362S; <a href="#0006">606887.0006</a>). Sulfite oxidase activity was absent in patient fibroblasts, but mutant SUOX protein expressed in E. coli had normal activity, suggesting differences between bacterial and human SUOX expression. G362S mutant apo-SUOX protein expressed in HEK293 cells had reduced stability and reduced molybdenum cofactor incorporation efficiency compared to wildtype, which provided evidence for a protein maturation defect. Patient fibroblasts treated with molybdate-containing growth media showed increased SUOX activity, suggesting that dietary treatment with molybdenum should be considered as a potential treatment in patients with ISOD and a mutation causing a protein maturation defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31127934" 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="#6" class="mim-tip-reference" title="Kaczmarek, A. T., Bahlmann, N., thaqi, B., May, P., Schwarz, G. <strong>Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations.</strong> Molec. Genet. Metab. 134: 188-194, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34420858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34420858</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.07.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34420858">Kaczmarek et al. (2021)</a> used a machine learning algorithm to determine the potential pathogenicity of missense mutations in the SUOX gene that were identified from the gnomAD database. Thirty-nine of these variants with the highest likelihood of pathogenicity were then functionally assessed with recombinant expression of the mutant protein in E.coli or HEK cells. Six mutations (W101G, H118Y, E197K, R217W, S427W, D512Y, Q518R) resulted in inactive sulfite oxidase and 7 mutations (D110, P119S, G121E, G130R, Y140C, R269H, Q396P, R459Q) resulted in severe reduction of sulfite oxidase activity. Based on these data combined with previously published data on pathogenic mutations in the SUOX gene, <a href="#6" class="mim-tip-reference" title="Kaczmarek, A. T., Bahlmann, N., thaqi, B., May, P., Schwarz, G. <strong>Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations.</strong> Molec. Genet. Metab. 134: 188-194, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34420858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34420858</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.07.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34420858">Kaczmarek et al. (2021)</a> calculated an incidence rate for ISOD of 1 in 1,377,341 births. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34420858" 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 class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908007 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908007;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/rs121908007?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">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908007" 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=rs121908007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a cell line from a patient with isolated sulfite oxidase deficiency (ISOD; <a href="/entry/272300">272300</a>), <a href="#7" class="mim-tip-reference" title="Kisker, C., Schindelin, H., Pacheco, A., Wehbi, W. A., Garrett, R. M., Rajagopalan, K. V., Enemark, J. H., Rees, D. C. <strong>Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase.</strong> Cell 91: 973-983, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9428520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9428520</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80488-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9428520">Kisker et al. (1997)</a> found a G-to-A substitution at nucleotide 479 of the cDNA of liver sulfite oxidase, resulting in an arg-to-gln substitution at amino acid residue 160 (R160Q). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9428520" 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 R160Q mutation was identified by <a href="#3" class="mim-tip-reference" title="Garrett, R. M., Johnson, J. L., Graf, T. N., Feigenbaum, A., Rajagopalan, K. V. <strong>Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme.</strong> Proc. Nat. Acad. Sci. 95: 6394-6398, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9600976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9600976</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9600976[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/10.1073/pnas.95.11.6394" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9600976">Garrett et al. (1998)</a> in a 5-year-old girl with sulfite oxidase deficiency born of first-cousin parents of Dutch descent. Recombinant protein containing the R160Q mutation, expressed in Escherichia coli, contained its full complement of molybdenum and heme, but exhibited 2% of native activity under standard assay conditions. Absorption spectroscopy of the isolated molybdenum domains of native sulfite oxidase and of the R160Q mutant showed significant differences in the 480- and 350-nm absorption bands, suggestive of altered geometry at the molybdenum center. Other studies led to the proposal that under normal circumstances arg160 attracts the anionic substrate sulfite to the binding site near the molybdenum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9600976" 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 class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908008 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908008;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=rs121908008" 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=rs121908008" 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=RCV000758700" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000758700" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000758700</a>
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<p>In a cell line from a patient with isolated sulfite oxidase deficiency (ISOD; <a href="/entry/272300">272300</a>), <a href="#7" class="mim-tip-reference" title="Kisker, C., Schindelin, H., Pacheco, A., Wehbi, W. A., Garrett, R. M., Rajagopalan, K. V., Enemark, J. H., Rees, D. C. <strong>Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase.</strong> Cell 91: 973-983, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9428520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9428520</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80488-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9428520">Kisker et al. (1997)</a> found a C-to-A substitution at nucleotide 623 of the cDNA of liver sulfite oxidase, resulting in an ala-to-asp substitution at amino acid 208. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9428520" 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>.0003 SULFITE OXIDASE DEFICIENCY, ISOLATED</strong>
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SUOX, SER370TYR
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004026" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004026" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004026</a>
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<p>In a cell line from a patient with isolated sulfite oxidase deficiency (ISOD; <a href="/entry/272300">272300</a>), <a href="#7" class="mim-tip-reference" title="Kisker, C., Schindelin, H., Pacheco, A., Wehbi, W. A., Garrett, R. M., Rajagopalan, K. V., Enemark, J. H., Rees, D. C. <strong>Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase.</strong> Cell 91: 973-983, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9428520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9428520</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80488-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9428520">Kisker et al. (1997)</a> found a G-to-A substitution at nucleotide 1109 of the cDNA of liver sulfite oxidase, resulting in a ser-to-tyr substitution at amino acid 370. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9428520" 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>.0004 SULFITE OXIDASE DEFICIENCY, ISOLATED</strong>
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SUOX, GLY473ASP
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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">●</span> rs121908009 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908009;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/rs121908009?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">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908009" 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=rs121908009" 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=RCV000758702" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000758702" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000758702</a>
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<span class="mim-text-font">
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<p>In a cell line from a patient with isolated sulfite oxidase deficiency (ISOD; <a href="/entry/272300">272300</a>), <a href="#7" class="mim-tip-reference" title="Kisker, C., Schindelin, H., Pacheco, A., Wehbi, W. A., Garrett, R. M., Rajagopalan, K. V., Enemark, J. H., Rees, D. C. <strong>Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase.</strong> Cell 91: 973-983, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9428520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9428520</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80488-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9428520">Kisker et al. (1997)</a> found a G-to-A substitution at nucleotide 1418 of the cDNA of liver sulfite oxidase, resulting in a gly-to-asp substitution at amino acid 473. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9428520" 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>
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<h4>
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<span class="mim-font">
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<strong>.0005 SULFITE OXIDASE DEFICIENCY, ISOLATED</strong>
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</h4>
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SUOX, 1-BP DEL, 1244G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1565798380 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1565798380;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=rs1565798380" 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=rs1565798380" 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=RCV000758699" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000758699" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000758699</a>
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</span>
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<p>In a male infant with isolated sulfite oxidase deficiency (ISOD; <a href="/entry/272300">272300</a>) from a consanguineous Arab family, <a href="#8" class="mim-tip-reference" title="Seidahmed, M. Z., Alyamani, E. A., Rashed, M. S., Saadallah, A. A., Abdelbasit, O. B., Shaheed, M. M., Rasheed, A., Hamid, F. A., Sabry, M. A. <strong>Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.</strong> Am. J. Med. Genet. 136A: 205-209, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15952210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15952210</a>] [<a href="https://doi.org/10.1002/ajmg.a.30796" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15952210">Seidahmed et al. (2005)</a> identified homozygosity for a 1-bp deletion (1244delG) in the SUOX gene, predicting a frameshift at amino acid 117 and resulting in a mutant protein of only 128 amino acids with total truncation of the molybdopterin and dimerizing domains. The parents and 1 unaffected sib were heterozygous for the deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15952210" 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>
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<h4>
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<span class="mim-font">
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<strong>.0006 SULFITE OXIDASE DEFICIENCY, ISOLATED</strong>
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SUOX, GLY362SER
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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">●</span> rs757559168 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs757559168;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/rs757559168?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">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs757559168" 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=rs757559168" 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=RCV001280525 OR RCV003387988" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001280525, RCV003387988" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001280525...</a>
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<p>In a Turkish boy, born to consanguineous parents, with isolated sulfite oxidase deficiency (ISOD; <a href="/entry/272300">272300</a>), <a href="#1" class="mim-tip-reference" title="Bender, D., Kaczmarek, A. T., Santamaria-Araujo, J. A., Stueve, B., Waltz, S., Bartsch, D., Kurian, L., Cirak, S., Schwarz, G. <strong>Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.</strong> Hum. Molec. Genet. 28: 2885-2899, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31127934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31127934</a>] [<a href="https://doi.org/10.1093/hmg/ddz109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31127934">Bender et al. (2019)</a> identified homozygosity for a c.1084G-A transition (c.1084G-A, NM_000456.2) in the SUOX gene, resulting in a gly362-to-ser (G362S) substitution at a highly conserved residue. The mutation was identified by direct gene sequencing. Sulfite oxidase activity in patient fibroblasts was absent. Apo-SUOX protein with the G362S mutation expressed in HEK293 cells had reduced stability and reduced molybdenum cofactor incorporation efficiency, which provided evidence for a protein maturation defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31127934" 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>REFERENCES</strong>
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Bender, D., Kaczmarek, A. T., Santamaria-Araujo, J. A., Stueve, B., Waltz, S., Bartsch, D., Kurian, L., Cirak, S., Schwarz, G.
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<strong>Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.</strong>
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Hum. Molec. Genet. 28: 2885-2899, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31127934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31127934</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31127934" 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/10.1093/hmg/ddz109" target="_blank">Full Text</a>]
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Garrett, R. M., Bellissimo, D. B., Rajagopalan, K. V.
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<strong>Molecular cloning of human liver sulfite oxidase.</strong>
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Biochim. Biophys. Acta 1262: 147-149, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7599189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7599189</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7599189" 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/10.1016/0167-4781(95)00068-r" target="_blank">Full Text</a>]
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Garrett1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Garrett, R. M., Johnson, J. L., Graf, T. N., Feigenbaum, A., Rajagopalan, K. V.
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<strong>Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme.</strong>
|
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Proc. Nat. Acad. Sci. 95: 6394-6398, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9600976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9600976</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9600976[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=9600976" 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/10.1073/pnas.95.11.6394" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Gross2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 2/1/2018.
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</p>
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<a id="5" class="mim-anchor"></a>
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<a id="Johnson2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Johnson, J. L., Coyne, K. E., Garrett, R. M., Zabot, M.-T., Dorche, C., Kisker, C., Rajagopalan, K. V.
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<strong>Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.(Abstract)</strong>
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Hum. Mutat. 20: 74 only, 2002.
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</p>
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</div>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Kaczmarek2021" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kaczmarek, A. T., Bahlmann, N., thaqi, B., May, P., Schwarz, G.
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<strong>Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations.</strong>
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Molec. Genet. Metab. 134: 188-194, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34420858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34420858</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34420858" 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/10.1016/j.ymgme.2021.07.011" target="_blank">Full Text</a>]
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Kisker1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kisker, C., Schindelin, H., Pacheco, A., Wehbi, W. A., Garrett, R. M., Rajagopalan, K. V., Enemark, J. H., Rees, D. C.
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<strong>Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase.</strong>
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Cell 91: 973-983, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9428520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9428520</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9428520" 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/10.1016/s0092-8674(00)80488-2" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Seidahmed2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Seidahmed, M. Z., Alyamani, E. A., Rashed, M. S., Saadallah, A. A., Abdelbasit, O. B., Shaheed, M. M., Rasheed, A., Hamid, F. A., Sabry, M. A.
|
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<strong>Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.</strong>
|
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Am. J. Med. Genet. 136A: 205-209, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15952210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15952210</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15952210" 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/10.1002/ajmg.a.30796" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Hilary J. Vernon - updated : 06/24/2022
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<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">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 12/29/2020<br>Matthew B. Gross - updated : 02/01/2018<br>Marla J. F. O'Neill - updated : 12/28/2005<br>Victor A. McKusick - updated : 8/27/2002
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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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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Cassandra L. Kniffin : 4/26/2002
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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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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carol : 06/24/2022
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<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">
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<span class="mim-text-font">
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carol : 12/29/2020<br>mgross : 02/01/2018<br>carol : 02/01/2018<br>carol : 10/18/2016<br>wwang : 01/03/2006<br>terry : 12/28/2005<br>tkritzer : 9/10/2002<br>tkritzer : 8/29/2002<br>terry : 8/27/2002<br>carol : 5/8/2002<br>ckniffin : 5/8/2002
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 606887
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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SULFITE OXIDASE; SUOX
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SUOX</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 367368009;
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<strong>ICD10CM:</strong> E72.19;
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</span>
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</p>
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<br />
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 12q13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:55,997,276-56,005,525 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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12q13.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Sulfite oxidase deficiency
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</span>
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</td>
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<td>
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<span class="mim-font">
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272300
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Sulfite oxidase (EC 1.8.3.1) is the terminal enzyme in the oxidative degradation pathway of sulfur-containing amino acids.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Garrett et al. (1995) isolated a 2.4-kb cDNA clone of sulfite oxidase from a human liver cDNA library. The deduced 488-amino acid protein has a molecular mass of approximately 52 kD and shows 88% homology to the rat protein and 67% homology to the chicken protein. Comparison of 3 sulfite oxidase sequences to several plant and fungal nitrate reductase sequences revealed a single conserved cysteine with highly conserved flanking sequences. Garrett et al. (1995) postulated that the conserved cysteine is a ligand of molybdenum in sulfite oxidase and nitrate reductase. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kisker et al. (1997) determined the crystal structure of chicken liver sulfite oxidase, which is homologous to the human protein, at 1.9-angstrom resolution. They found that each monomer of the dimeric enzyme consists of 3 domains. At the active site, the Mo is penta-coordinated by 3 sulfur ligands, 1 oxo group, and 1 water/hydroxo. A sulfate molecule adjacent to the Mo identifies the substrate binding pocket. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gross (2018) mapped the SUOX gene to chromosome 12q13.2 based on an alignment of the SUOX sequence (GenBank AY056018) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kisker et al. (1997) characterized 4 missense mutations in the SUOX gene (606887.0001-606887.0004) in cell lines from patients with isolated sulfite oxidase deficiency (ISOD; 272300). The crystallographic results predicted that 2 of these mutations (arg160 to gln, 606887.0001 and ala208 to asp, 606887.0002) are near the sulfate-binding site, whereas the other mutations (ser370 to tyr, 606887.0003 and gly473 to asp, 606887.0004) occur within the domain mediating dimerization. </p><p>Johnson et al. (2002) identified 12 novel mutations in the SUOX gene in patients with isolated sulfite oxidase deficiency. These included 2 frameshift mutations, 2 homozygous nonsense mutations, and 8 missense mutations.</p><p>Seidahmed et al. (2005) identified a 1-bp deletion in the SUOX gene (606887.0005) in a male infant with isolated sulfite oxidase deficiency. </p><p>By direct sequencing of the SUOX gene in a Turkish boy, born of consanguineous parents, with ISOD, Bender et al. (2019) identified a homozygous missense mutation (G362S; 606887.0006). Sulfite oxidase activity was absent in patient fibroblasts, but mutant SUOX protein expressed in E. coli had normal activity, suggesting differences between bacterial and human SUOX expression. G362S mutant apo-SUOX protein expressed in HEK293 cells had reduced stability and reduced molybdenum cofactor incorporation efficiency compared to wildtype, which provided evidence for a protein maturation defect. Patient fibroblasts treated with molybdate-containing growth media showed increased SUOX activity, suggesting that dietary treatment with molybdenum should be considered as a potential treatment in patients with ISOD and a mutation causing a protein maturation defect. </p><p>Kaczmarek et al. (2021) used a machine learning algorithm to determine the potential pathogenicity of missense mutations in the SUOX gene that were identified from the gnomAD database. Thirty-nine of these variants with the highest likelihood of pathogenicity were then functionally assessed with recombinant expression of the mutant protein in E.coli or HEK cells. Six mutations (W101G, H118Y, E197K, R217W, S427W, D512Y, Q518R) resulted in inactive sulfite oxidase and 7 mutations (D110, P119S, G121E, G130R, Y140C, R269H, Q396P, R459Q) resulted in severe reduction of sulfite oxidase activity. Based on these data combined with previously published data on pathogenic mutations in the SUOX gene, Kaczmarek et al. (2021) calculated an incidence rate for ISOD of 1 in 1,377,341 births. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 SULFITE OXIDASE DEFICIENCY, ISOLATED</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SUOX, ARG160GLN
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<br />
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SNP: rs121908007,
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gnomAD: rs121908007,
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ClinVar: RCV000698394
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a cell line from a patient with isolated sulfite oxidase deficiency (ISOD; 272300), Kisker et al. (1997) found a G-to-A substitution at nucleotide 479 of the cDNA of liver sulfite oxidase, resulting in an arg-to-gln substitution at amino acid residue 160 (R160Q). </p><p>The R160Q mutation was identified by Garrett et al. (1998) in a 5-year-old girl with sulfite oxidase deficiency born of first-cousin parents of Dutch descent. Recombinant protein containing the R160Q mutation, expressed in Escherichia coli, contained its full complement of molybdenum and heme, but exhibited 2% of native activity under standard assay conditions. Absorption spectroscopy of the isolated molybdenum domains of native sulfite oxidase and of the R160Q mutant showed significant differences in the 480- and 350-nm absorption bands, suggestive of altered geometry at the molybdenum center. Other studies led to the proposal that under normal circumstances arg160 attracts the anionic substrate sulfite to the binding site near the molybdenum. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 SULFITE OXIDASE DEFICIENCY, ISOLATED</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SUOX, ALA208ASP
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<br />
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SNP: rs121908008,
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ClinVar: RCV000758700
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a cell line from a patient with isolated sulfite oxidase deficiency (ISOD; 272300), Kisker et al. (1997) found a C-to-A substitution at nucleotide 623 of the cDNA of liver sulfite oxidase, resulting in an ala-to-asp substitution at amino acid 208. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 SULFITE OXIDASE DEFICIENCY, ISOLATED</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SUOX, SER370TYR
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<br />
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|
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ClinVar: RCV000004026
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a cell line from a patient with isolated sulfite oxidase deficiency (ISOD; 272300), Kisker et al. (1997) found a G-to-A substitution at nucleotide 1109 of the cDNA of liver sulfite oxidase, resulting in a ser-to-tyr substitution at amino acid 370. </p>
|
|
</span>
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</div>
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<div>
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|
<br />
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|
</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 SULFITE OXIDASE DEFICIENCY, ISOLATED</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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SUOX, GLY473ASP
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<br />
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|
|
SNP: rs121908009,
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|
|
gnomAD: rs121908009,
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|
|
ClinVar: RCV000758702
|
|
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a cell line from a patient with isolated sulfite oxidase deficiency (ISOD; 272300), Kisker et al. (1997) found a G-to-A substitution at nucleotide 1418 of the cDNA of liver sulfite oxidase, resulting in a gly-to-asp substitution at amino acid 473. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 SULFITE OXIDASE DEFICIENCY, ISOLATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUOX, 1-BP DEL, 1244G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1565798380,
|
|
|
|
|
|
|
|
ClinVar: RCV000758699
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male infant with isolated sulfite oxidase deficiency (ISOD; 272300) from a consanguineous Arab family, Seidahmed et al. (2005) identified homozygosity for a 1-bp deletion (1244delG) in the SUOX gene, predicting a frameshift at amino acid 117 and resulting in a mutant protein of only 128 amino acids with total truncation of the molybdopterin and dimerizing domains. The parents and 1 unaffected sib were heterozygous for the deletion. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 SULFITE OXIDASE DEFICIENCY, ISOLATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUOX, GLY362SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs757559168,
|
|
|
|
|
|
gnomAD: rs757559168,
|
|
|
|
|
|
ClinVar: RCV001280525, RCV003387988
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Turkish boy, born to consanguineous parents, with isolated sulfite oxidase deficiency (ISOD; 272300), Bender et al. (2019) identified homozygosity for a c.1084G-A transition (c.1084G-A, NM_000456.2) in the SUOX gene, resulting in a gly362-to-ser (G362S) substitution at a highly conserved residue. The mutation was identified by direct gene sequencing. Sulfite oxidase activity in patient fibroblasts was absent. Apo-SUOX protein with the G362S mutation expressed in HEK293 cells had reduced stability and reduced molybdenum cofactor incorporation efficiency, which provided evidence for a protein maturation defect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
</div>
|
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|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bender, D., Kaczmarek, A. T., Santamaria-Araujo, J. A., Stueve, B., Waltz, S., Bartsch, D., Kurian, L., Cirak, S., Schwarz, G.
|
|
<strong>Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.</strong>
|
|
Hum. Molec. Genet. 28: 2885-2899, 2019.
|
|
|
|
|
|
[PubMed: 31127934]
|
|
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|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddz109]
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Garrett, R. M., Bellissimo, D. B., Rajagopalan, K. V.
|
|
<strong>Molecular cloning of human liver sulfite oxidase.</strong>
|
|
Biochim. Biophys. Acta 1262: 147-149, 1995.
|
|
|
|
|
|
[PubMed: 7599189]
|
|
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|
|
[Full Text: https://doi.org/10.1016/0167-4781(95)00068-r]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Garrett, R. M., Johnson, J. L., Graf, T. N., Feigenbaum, A., Rajagopalan, K. V.
|
|
<strong>Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme.</strong>
|
|
Proc. Nat. Acad. Sci. 95: 6394-6398, 1998.
|
|
|
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|
|
[PubMed: 9600976]
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[Full Text: https://doi.org/10.1073/pnas.95.11.6394]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 2/1/2018.
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|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Johnson, J. L., Coyne, K. E., Garrett, R. M., Zabot, M.-T., Dorche, C., Kisker, C., Rajagopalan, K. V.
|
|
<strong>Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.(Abstract)</strong>
|
|
Hum. Mutat. 20: 74 only, 2002.
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Kaczmarek, A. T., Bahlmann, N., thaqi, B., May, P., Schwarz, G.
|
|
<strong>Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations.</strong>
|
|
Molec. Genet. Metab. 134: 188-194, 2021.
|
|
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|
|
[PubMed: 34420858]
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[Full Text: https://doi.org/10.1016/j.ymgme.2021.07.011]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kisker, C., Schindelin, H., Pacheco, A., Wehbi, W. A., Garrett, R. M., Rajagopalan, K. V., Enemark, J. H., Rees, D. C.
|
|
<strong>Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase.</strong>
|
|
Cell 91: 973-983, 1997.
|
|
|
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|
|
[PubMed: 9428520]
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[Full Text: https://doi.org/10.1016/s0092-8674(00)80488-2]
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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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Seidahmed, M. Z., Alyamani, E. A., Rashed, M. S., Saadallah, A. A., Abdelbasit, O. B., Shaheed, M. M., Rasheed, A., Hamid, F. A., Sabry, M. A.
|
|
<strong>Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.</strong>
|
|
Am. J. Med. Genet. 136A: 205-209, 2005.
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|
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|
|
[PubMed: 15952210]
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[Full Text: https://doi.org/10.1002/ajmg.a.30796]
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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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</div>
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</div>
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 06/24/2022<br>Hilary J. Vernon - updated : 12/29/2020<br>Matthew B. Gross - updated : 02/01/2018<br>Marla J. F. O'Neill - updated : 12/28/2005<br>Victor A. McKusick - updated : 8/27/2002
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</span>
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</div>
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</div>
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</div>
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<br />
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<span class="mim-text-font">
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Cassandra L. Kniffin : 4/26/2002
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carol : 06/24/2022<br>carol : 12/29/2020<br>mgross : 02/01/2018<br>carol : 02/01/2018<br>carol : 10/18/2016<br>wwang : 01/03/2006<br>terry : 12/28/2005<br>tkritzer : 9/10/2002<br>tkritzer : 8/29/2002<br>terry : 8/27/2002<br>carol : 5/8/2002<br>ckniffin : 5/8/2002
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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