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Entry
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- *615521 - SH3 AND CYSTEINE-RICH DOMAINS 3; STAC3
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- OMIM
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<p>
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<span class="h4">*615521</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#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="#description">Description</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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<a href="#mapping">Mapping</a>
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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/615521">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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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=ENSG00000185482;t=ENST00000332782" 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=246329" 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=615521" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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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=ENSG00000185482;t=ENST00000332782" 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_001286256,NM_001286257,NM_145064,NR_104422,XM_011538126,XM_047428657" 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_145064" 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=615521" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="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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<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://www.proteinatlas.org/search/STAC3" 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/14165531,16552576,21450838,74732360,119617410,119617411,119617412,119617413,194374117,555943724,555943882,767973708,2217288427,2462531116,2462531118" 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/Q96MF2" 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 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=246329" 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=ENSG00000185482;t=ENST00000332782" 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=STAC3" 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=STAC3" 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+246329" 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/STAC3" 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:246329" 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/246329" 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=ENST00000332782.7&hgg_start=57243458&hgg_end=57251187&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 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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</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:28423" 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/stac3" 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=615521[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=615521[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000185482" 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=STAC3" 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=STAC3" 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=STAC3" 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=STAC3&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/PA134877600" 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:28423" 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/FBgn0263980.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:3606571" 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/STAC3#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:3606571" 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/246329/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=246329" 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=WBGene00017597;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-040801-248" 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://reactome.org/content/query?q=STAC3&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> 723439002<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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615521
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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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SH3 AND CYSTEINE-RICH DOMAINS 3; STAC3
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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=STAC3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">STAC3</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/12/536?start=-3&limit=10&highlight=536">12q13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:57243458-57251187&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'})">12:57,243,458-57,251,187</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/12/536?start=-3&limit=10&highlight=536">
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12q13.3
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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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Congenital myopathy 13
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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/255995"> 255995 </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/615521" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/615521" 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>
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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>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>STAC3 is a component of the excitation-contraction coupling machinery of muscles (<a href="#2" class="mim-tip-reference" title="Horstick, E. J., Linsley, J. W., Dowling, J. J., Hauser, M. A., McDonald, K. K., Ashley-Koch, A., Saint-Amant, L., Satish, A., Cui, W. W., Zhou, W., Sprague, S. M., Stamm, D. S., Powell, C. M., Speer, M. C., Franzini-Armstrong, C., Hirata, H., Kuwada, J. Y. <strong>Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.</strong> Nature Commun. 4: 1952, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23736855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23736855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23736855[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/10.1038/ncomms2952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23736855">Horstick et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23736855" 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>Using a zebrafish genetic screen, <a href="#2" class="mim-tip-reference" title="Horstick, E. J., Linsley, J. W., Dowling, J. J., Hauser, M. A., McDonald, K. K., Ashley-Koch, A., Saint-Amant, L., Satish, A., Cui, W. W., Zhou, W., Sprague, S. M., Stamm, D. S., Powell, C. M., Speer, M. C., Franzini-Armstrong, C., Hirata, H., Kuwada, J. Y. <strong>Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.</strong> Nature Commun. 4: 1952, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23736855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23736855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23736855[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/10.1038/ncomms2952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23736855">Horstick et al. (2013)</a> created a locomotor mutant with decreased excitation-contraction (EC) coupling that mapped to the stac3 gene. The autosomal recessive mutants exhibited a variety of defective motor behaviors during early development and died as larvae. Their nervous systems appeared to be normal but muscles in the mutant animals contracted much less following depolarization than in wildtype zebrafish. Overall myofiber morphology appeared normal in the mutant larvae, but Ca(2+) transients were greatly reduced as expected for a defect in EC coupling. An antibody against stac3 detected an approximately 49-kD protein in normal zebrafish, consistent with the predicted 334-amino acid normal protein, but no protein was seen in the homozygous mutants. The antibody was also used to detect stac3 protein in skeletal muscle triads where it colocalized with DHPR alpha-1 (CACNA1C; <a href="/entry/114205">114205</a>) and presumably with RYR1 (<a href="/entry/180901">180901</a>), a gene that is defective in malignant hyperthermia. <a href="#2" class="mim-tip-reference" title="Horstick, E. J., Linsley, J. W., Dowling, J. J., Hauser, M. A., McDonald, K. K., Ashley-Koch, A., Saint-Amant, L., Satish, A., Cui, W. W., Zhou, W., Sprague, S. M., Stamm, D. S., Powell, C. M., Speer, M. C., Franzini-Armstrong, C., Hirata, H., Kuwada, J. Y. <strong>Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.</strong> Nature Commun. 4: 1952, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23736855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23736855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23736855[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/10.1038/ncomms2952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23736855">Horstick et al. (2013)</a> were able to rescue the mutant using the wildtype gene, and the rescued larvae had restored calcium transients. The authors concluded that stac3 is a component of the triadic complex of proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23736855" 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>The STAC3 gene maps to chromosome 12q13-q14 (<a href="#2" class="mim-tip-reference" title="Horstick, E. J., Linsley, J. W., Dowling, J. J., Hauser, M. A., McDonald, K. K., Ashley-Koch, A., Saint-Amant, L., Satish, A., Cui, W. W., Zhou, W., Sprague, S. M., Stamm, D. S., Powell, C. M., Speer, M. C., Franzini-Armstrong, C., Hirata, H., Kuwada, J. Y. <strong>Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.</strong> Nature Commun. 4: 1952, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23736855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23736855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23736855[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/10.1038/ncomms2952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23736855">Horstick et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23736855" 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="#2" class="mim-tip-reference" title="Horstick, E. J., Linsley, J. W., Dowling, J. J., Hauser, M. A., McDonald, K. K., Ashley-Koch, A., Saint-Amant, L., Satish, A., Cui, W. W., Zhou, W., Sprague, S. M., Stamm, D. S., Powell, C. M., Speer, M. C., Franzini-Armstrong, C., Hirata, H., Kuwada, J. Y. <strong>Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.</strong> Nature Commun. 4: 1952, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23736855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23736855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23736855[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/10.1038/ncomms2952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23736855">Horstick et al. (2013)</a> sequenced the coding regions of the STAC3 gene in a cohort of 5 Native American families with congenital myopathy-13 (CMYO13; <a href="/entry/255995">255995</a>), also known as Native American myopathy (NAM), that included 5 affected and 13 unaffected individuals. All affected individuals were homozygous for a missense mutation (W284S; <a href="#0001">615521.0001</a>), whereas all obligate carriers were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23736855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 19-year-old man, born of unrelated Turkish parents, with CMYO13, <a href="#1" class="mim-tip-reference" title="Grzybowski, N., Schanzer, A., Pepler, A., Heller, C., Neubauer, B. A., Hahn, A. <strong>Novel STAC3 mutations in the first non-Native American patient with Native American myopathy.</strong> Neuropediatrics 48: 451-455, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28411587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28411587</a>] [<a href="https://doi.org/10.1055/s-0037-1601868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28411587">Grzybowski et al. (2017)</a> identified compound heterozygous mutations in the STAC3 gene (<a href="#0002">615521.0002</a> and <a href="#0003">615521.0003</a>). The mutations, which were identified by next-generation sequencing of a panel of genes and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed, but the mutations were predicted to result in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28411587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sibs, born of consanguineous parents from Qatar, with CMYO13, <a href="#3" class="mim-tip-reference" title="Telegrafi, A., Webb, B. D., Robbins, S. M., Speck-Martins, C. E., FitzPatrick, D., Fleming, L., Redett, R., Dufke, A., Houge, G., van Harssel, J. J. T., Verloes, A., Robles, A., Manoli, I., Engle, E. C., Moebius Syndrome Research Consortium, Jabs, E. W., Valle, D., Carey, J., Hoover-Fong, J. E., Sobreira, N. L. M. <strong>Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.</strong> Am. J. Med. Genet. 173A: 2763-2771, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28777491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28777491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28777491[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/10.1002/ajmg.a.38375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28777491">Telegrafi et al. (2017)</a> identified a homozygous W284S mutation. Two sibs from Puerto Rico with the same phenotype were found to be compound heterozygous for the W284S mutation and a 4-bp deletion (c.763_766delCTCT; <a href="#0004">615521.0004</a>). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Functional studies of the variants and studies of patient cells were not performed, but the report demonstrated that the W284S mutation is not restricted to the Native American population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28777491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 17 patients from 11 apparently unrelated families with Bailey-Bloch congenital myopathy (CMYO13), <a href="#4" class="mim-tip-reference" title="Zaharieva, I. T., Sarkozy, A., Munot, P., Manzur, A., O'Grady, G., Rendu, J., Malfatti, E., Amthor, H., Servais, L., Urtizberea, J. A., Neto, O. A., Zanoteli, E., and 23 others. <strong>STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.</strong> Hum. Mutat. 39: 1980-1994, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30168660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30168660</a>] [<a href="https://doi.org/10.1002/humu.23635" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30168660">Zaharieva et al. (2018)</a> identified homozygosity for the W84S mutation in the STAC3 gene; in an unrelated patient (PN5), they identified compound heterozygosity for the W84S mutation and a splice site mutation (<a href="#0005">615521.0005</a>). The mutations, which were identified by whole-exome sequencing or targeted panel sequencing of known congenital myopathy genes, were confirmed by Sanger sequencing. The mutations segregated with the phenotype in all of the families, which were of African, Middle Eastern, Afro-Caribbean, Comorian, and South American descent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30168660" 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> rs140291094 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs140291094;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/rs140291094?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=rs140291094" 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=rs140291094" 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 cohort of 5 families with congenital myopathy-13 (CMYO13; <a href="/entry/255995">255995</a>), also known as Native American myopathy and Bailey-Bloch congenital myopathy, <a href="#2" class="mim-tip-reference" title="Horstick, E. J., Linsley, J. W., Dowling, J. J., Hauser, M. A., McDonald, K. K., Ashley-Koch, A., Saint-Amant, L., Satish, A., Cui, W. W., Zhou, W., Sprague, S. M., Stamm, D. S., Powell, C. M., Speer, M. C., Franzini-Armstrong, C., Hirata, H., Kuwada, J. Y. <strong>Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.</strong> Nature Commun. 4: 1952, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23736855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23736855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23736855[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/10.1038/ncomms2952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23736855">Horstick et al. (2013)</a> sequenced the coding regions of the STAC3 gene and identified homozygosity for a c.1046G-C transversion (c.1046G-C, NM_145064) in exon 10, resulting in a trp284-to-ser (W284S; <a href="#0001">615521.0001</a>), in all 5 affected individuals. Among 13 unaffected individuals, all obligate carriers were heterozygous for the mutation. The mutation was not found in 3 unaffected, unrelated Lumbee individuals, in 13 Caucasian control individuals, or in the 1000 Genomes Project database. <a href="#2" class="mim-tip-reference" title="Horstick, E. J., Linsley, J. W., Dowling, J. J., Hauser, M. A., McDonald, K. K., Ashley-Koch, A., Saint-Amant, L., Satish, A., Cui, W. W., Zhou, W., Sprague, S. M., Stamm, D. S., Powell, C. M., Speer, M. C., Franzini-Armstrong, C., Hirata, H., Kuwada, J. Y. <strong>Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.</strong> Nature Commun. 4: 1952, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23736855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23736855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23736855[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/10.1038/ncomms2952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23736855">Horstick et al. (2013)</a> created zebrafish with the W284S mutation, which exhibited decreased Ca(2+) transients. Conversely, expression of the normal human STAC3 gene in mutant fish rescued their phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23736855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sibs, born of consanguineous parents from Qatar, with CMYO13, <a href="#3" class="mim-tip-reference" title="Telegrafi, A., Webb, B. D., Robbins, S. M., Speck-Martins, C. E., FitzPatrick, D., Fleming, L., Redett, R., Dufke, A., Houge, G., van Harssel, J. J. T., Verloes, A., Robles, A., Manoli, I., Engle, E. C., Moebius Syndrome Research Consortium, Jabs, E. W., Valle, D., Carey, J., Hoover-Fong, J. E., Sobreira, N. L. M. <strong>Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.</strong> Am. J. Med. Genet. 173A: 2763-2771, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28777491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28777491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28777491[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/10.1002/ajmg.a.38375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28777491">Telegrafi et al. (2017)</a> identified a homozygous W284S mutation, which they referred to as resulting from a c.851G-C transversion (NM_145064.2). These authors noted that the mutation occurs at a highly conserved residue in the first SH3 domain. Two sibs from Puerto Rico with the same phenotype were found to be compound heterozygous for the W284S mutation and a 4-bp deletion (c.763_766delCTCT; <a href="#0004">615521.0004</a>), predicted to result in a frameshift and premature termination (Leu255IlefsTer58). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. The W284S mutation was filtered against the dbSNP, 1000 Genomes Project, and Exome Variant Server databases; the mutation was found in heterozygous state in 13 of 121,350 alleles in the ExAC database. The 4-bp deletion was not found in the dbSNP database, but was found in heterozygous state in 2 of 121,242 alleles in the ExAC database. Functional studies of the variants and studies of patient cells were not performed, but the report demonstrated that the W284S mutation is not restricted to the Native American population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28777491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 17 patients with CMYO13 from 11 apparently unrelated families of non-Native American descent, <a href="#4" class="mim-tip-reference" title="Zaharieva, I. T., Sarkozy, A., Munot, P., Manzur, A., O'Grady, G., Rendu, J., Malfatti, E., Amthor, H., Servais, L., Urtizberea, J. A., Neto, O. A., Zanoteli, E., and 23 others. <strong>STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.</strong> Hum. Mutat. 39: 1980-1994, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30168660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30168660</a>] [<a href="https://doi.org/10.1002/humu.23635" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30168660">Zaharieva et al. (2018)</a> identified homozygosity for the W84S mutation in the STAC3 gene. In another patient (PN5), of Afro-Caribbean descent, they identified compound heterozygosity for the W84S substitution and a splice site mutation (c.997-1G-T; <a href="#0005">615521.0005</a>) in STAC3, which abolished the acceptor splice site of exon 12, leading to activation of a cryptic acceptor site within exon 12. cDNA sequencing confirmed a 12-bp in-frame deletion, which eliminated 4 amino acids from the second SH3 domain. The mutations segregated with the disorder in all of the families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30168660" 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>In a 19-year-old man, born of unrelated Turkish parents, with congenital myopathy-13 (CMYO13; <a href="/entry/255995">255995</a>), <a href="#1" class="mim-tip-reference" title="Grzybowski, N., Schanzer, A., Pepler, A., Heller, C., Neubauer, B. A., Hahn, A. <strong>Novel STAC3 mutations in the first non-Native American patient with Native American myopathy.</strong> Neuropediatrics 48: 451-455, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28411587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28411587</a>] [<a href="https://doi.org/10.1055/s-0037-1601868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28411587">Grzybowski et al. (2017)</a> identified compound heterozygous mutations in the STAC3 gene: a c.862A-T transversion (c.862A-T, NM_145064.2), resulting in a lys288-to-ter (K288X) substitution in the first SH3 domain, and an A-to-T transversion in intron 4 (c.432+4A-T; <a href="#0003">615521.0003</a>), which was demonstrated to result in abnormal splicing and the production of several abnormal transcripts. The mutations, which were identified by next-generation sequencing of a panel of genes and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed, but the mutations were predicted to result in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28411587" 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>For discussion of the A-to-T transversion in intron 4 of the STAC3 gene (c.432+4A-T, NM_145064.2) that was found in compound heterozygous state in a patient with congenital myopathy-13 (CMYO13; <a href="/entry/255995">255995</a>) by <a href="#1" class="mim-tip-reference" title="Grzybowski, N., Schanzer, A., Pepler, A., Heller, C., Neubauer, B. A., Hahn, A. <strong>Novel STAC3 mutations in the first non-Native American patient with Native American myopathy.</strong> Neuropediatrics 48: 451-455, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28411587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28411587</a>] [<a href="https://doi.org/10.1055/s-0037-1601868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28411587">Grzybowski et al. (2017)</a>, see <a href="#0002">615521.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28411587" 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>For discussion of the 4-bp deletion (c.763_766delCTCT, NM_145064.2) in the STAC3 gene, predicted to result in a frameshift and premature termination (Leu255Il3Ter58), that was found in compound heterozygous state in 2 sibs with congenital myopathy-13 (CMYO13; <a href="/entry/255995">255995</a>) by <a href="#3" class="mim-tip-reference" title="Telegrafi, A., Webb, B. D., Robbins, S. M., Speck-Martins, C. E., FitzPatrick, D., Fleming, L., Redett, R., Dufke, A., Houge, G., van Harssel, J. J. T., Verloes, A., Robles, A., Manoli, I., Engle, E. C., Moebius Syndrome Research Consortium, Jabs, E. W., Valle, D., Carey, J., Hoover-Fong, J. E., Sobreira, N. L. M. <strong>Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.</strong> Am. J. Med. Genet. 173A: 2763-2771, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28777491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28777491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28777491[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/10.1002/ajmg.a.38375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28777491">Telegrafi et al. (2017)</a>, see <a href="#0001">615521.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28777491" 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> rs779483367 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs779483367;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/rs779483367?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=rs779483367" 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=rs779483367" 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=RCV000851531" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000851531" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000851531</a>
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<p>For discussion of the splice site variant (c.997-G-T, NM_145064.2) in the STAC3 gene that was found in compound heterozygous state in a patient (PN5) of Afro-Caribbean descent with congenital myopathy-13 (CMYO13; <a href="/entry/255995">255995</a>) by <a href="#4" class="mim-tip-reference" title="Zaharieva, I. T., Sarkozy, A., Munot, P., Manzur, A., O'Grady, G., Rendu, J., Malfatti, E., Amthor, H., Servais, L., Urtizberea, J. A., Neto, O. A., Zanoteli, E., and 23 others. <strong>STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.</strong> Hum. Mutat. 39: 1980-1994, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30168660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30168660</a>] [<a href="https://doi.org/10.1002/humu.23635" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30168660">Zaharieva et al. (2018)</a>, see <a href="#0001">615521.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30168660" 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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<a id="1" class="mim-anchor"></a>
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<a id="Grzybowski2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Grzybowski, N., Schanzer, A., Pepler, A., Heller, C., Neubauer, B. A., Hahn, A.
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<strong>Novel STAC3 mutations in the first non-Native American patient with Native American myopathy.</strong>
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Neuropediatrics 48: 451-455, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28411587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28411587</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28411587" 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/10.1055/s-0037-1601868" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Horstick2013" class="mim-anchor"></a>
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<div class="">
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Horstick, E. J., Linsley, J. W., Dowling, J. J., Hauser, M. A., McDonald, K. K., Ashley-Koch, A., Saint-Amant, L., Satish, A., Cui, W. W., Zhou, W., Sprague, S. M., Stamm, D. S., Powell, C. M., Speer, M. C., Franzini-Armstrong, C., Hirata, H., Kuwada, J. Y.
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<strong>Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.</strong>
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Nature Commun. 4: 1952, 2013. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23736855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23736855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23736855[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=23736855" 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/10.1038/ncomms2952" target="_blank">Full Text</a>]
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</p>
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<a id="3" class="mim-anchor"></a>
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<a id="Telegrafi2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Telegrafi, A., Webb, B. D., Robbins, S. M., Speck-Martins, C. E., FitzPatrick, D., Fleming, L., Redett, R., Dufke, A., Houge, G., van Harssel, J. J. T., Verloes, A., Robles, A., Manoli, I., Engle, E. C., Moebius Syndrome Research Consortium, Jabs, E. W., Valle, D., Carey, J., Hoover-Fong, J. E., Sobreira, N. L. M.
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<strong>Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.</strong>
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Am. J. Med. Genet. 173A: 2763-2771, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28777491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28777491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28777491[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=28777491" 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.38375" target="_blank">Full Text</a>]
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<a id="Zaharieva2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zaharieva, I. T., Sarkozy, A., Munot, P., Manzur, A., O'Grady, G., Rendu, J., Malfatti, E., Amthor, H., Servais, L., Urtizberea, J. A., Neto, O. A., Zanoteli, E., and 23 others.
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<strong>STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.</strong>
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Hum. Mutat. 39: 1980-1994, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30168660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30168660</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30168660" 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/humu.23635" target="_blank">Full Text</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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Sonja A. Rasmussen - updated : 06/04/2020
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Cassandra L. Kniffin - updated : 08/21/2018
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Creation Date:
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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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Alan F. Scott : 11/11/2013
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alopez : 07/16/2024
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<span class="mim-text-font">
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alopez : 03/10/2023<br>carol : 06/04/2020<br>carol : 08/27/2018<br>carol : 08/21/2018<br>ckniffin : 08/21/2018<br>carol : 11/13/2013<br>carol : 11/12/2013
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<strong>*</strong> 615521
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SH3 AND CYSTEINE-RICH DOMAINS 3; STAC3
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<strong><em>HGNC Approved Gene Symbol: STAC3</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 723439002;
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<strong>
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<em>
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Cytogenetic location: 12q13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:57,243,458-57,251,187 </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 class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<td rowspan="1">
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<span class="mim-font">
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12q13.3
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<span class="mim-font">
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Congenital myopathy 13
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<span class="mim-font">
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255995
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>STAC3 is a component of the excitation-contraction coupling machinery of muscles (Horstick et al., 2013). </p>
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</span>
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<div>
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<br />
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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 class="mim-text-font">
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<p>Using a zebrafish genetic screen, Horstick et al. (2013) created a locomotor mutant with decreased excitation-contraction (EC) coupling that mapped to the stac3 gene. The autosomal recessive mutants exhibited a variety of defective motor behaviors during early development and died as larvae. Their nervous systems appeared to be normal but muscles in the mutant animals contracted much less following depolarization than in wildtype zebrafish. Overall myofiber morphology appeared normal in the mutant larvae, but Ca(2+) transients were greatly reduced as expected for a defect in EC coupling. An antibody against stac3 detected an approximately 49-kD protein in normal zebrafish, consistent with the predicted 334-amino acid normal protein, but no protein was seen in the homozygous mutants. The antibody was also used to detect stac3 protein in skeletal muscle triads where it colocalized with DHPR alpha-1 (CACNA1C; 114205) and presumably with RYR1 (180901), a gene that is defective in malignant hyperthermia. Horstick et al. (2013) were able to rescue the mutant using the wildtype gene, and the rescued larvae had restored calcium transients. The authors concluded that stac3 is a component of the triadic complex of proteins. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>The STAC3 gene maps to chromosome 12q13-q14 (Horstick et al., 2013). </p>
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<div>
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<br />
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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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<span class="mim-text-font">
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<p>Horstick et al. (2013) sequenced the coding regions of the STAC3 gene in a cohort of 5 Native American families with congenital myopathy-13 (CMYO13; 255995), also known as Native American myopathy (NAM), that included 5 affected and 13 unaffected individuals. All affected individuals were homozygous for a missense mutation (W284S; 615521.0001), whereas all obligate carriers were heterozygous for the mutation. </p><p>In a 19-year-old man, born of unrelated Turkish parents, with CMYO13, Grzybowski et al. (2017) identified compound heterozygous mutations in the STAC3 gene (615521.0002 and 615521.0003). The mutations, which were identified by next-generation sequencing of a panel of genes and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed, but the mutations were predicted to result in a loss of function. </p><p>In 2 sibs, born of consanguineous parents from Qatar, with CMYO13, Telegrafi et al. (2017) identified a homozygous W284S mutation. Two sibs from Puerto Rico with the same phenotype were found to be compound heterozygous for the W284S mutation and a 4-bp deletion (c.763_766delCTCT; 615521.0004). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Functional studies of the variants and studies of patient cells were not performed, but the report demonstrated that the W284S mutation is not restricted to the Native American population. </p><p>In 17 patients from 11 apparently unrelated families with Bailey-Bloch congenital myopathy (CMYO13), Zaharieva et al. (2018) identified homozygosity for the W84S mutation in the STAC3 gene; in an unrelated patient (PN5), they identified compound heterozygosity for the W84S mutation and a splice site mutation (615521.0005). The mutations, which were identified by whole-exome sequencing or targeted panel sequencing of known congenital myopathy genes, were confirmed by Sanger sequencing. The mutations segregated with the phenotype in all of the families, which were of African, Middle Eastern, Afro-Caribbean, Comorian, and South American descent. </p>
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 Selected Examples):</strong>
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<strong>.0001 CONGENITAL MYOPATHY 13</strong>
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STAC3, TRP284SER ({dbSNP rs140291094})
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SNP: rs140291094,
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gnomAD: rs140291094,
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ClinVar: RCV000074400, RCV001093315, RCV004757959
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<p>In a cohort of 5 families with congenital myopathy-13 (CMYO13; 255995), also known as Native American myopathy and Bailey-Bloch congenital myopathy, Horstick et al. (2013) sequenced the coding regions of the STAC3 gene and identified homozygosity for a c.1046G-C transversion (c.1046G-C, NM_145064) in exon 10, resulting in a trp284-to-ser (W284S; 615521.0001), in all 5 affected individuals. Among 13 unaffected individuals, all obligate carriers were heterozygous for the mutation. The mutation was not found in 3 unaffected, unrelated Lumbee individuals, in 13 Caucasian control individuals, or in the 1000 Genomes Project database. Horstick et al. (2013) created zebrafish with the W284S mutation, which exhibited decreased Ca(2+) transients. Conversely, expression of the normal human STAC3 gene in mutant fish rescued their phenotype. </p><p>In 2 sibs, born of consanguineous parents from Qatar, with CMYO13, Telegrafi et al. (2017) identified a homozygous W284S mutation, which they referred to as resulting from a c.851G-C transversion (NM_145064.2). These authors noted that the mutation occurs at a highly conserved residue in the first SH3 domain. Two sibs from Puerto Rico with the same phenotype were found to be compound heterozygous for the W284S mutation and a 4-bp deletion (c.763_766delCTCT; 615521.0004), predicted to result in a frameshift and premature termination (Leu255IlefsTer58). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. The W284S mutation was filtered against the dbSNP, 1000 Genomes Project, and Exome Variant Server databases; the mutation was found in heterozygous state in 13 of 121,350 alleles in the ExAC database. The 4-bp deletion was not found in the dbSNP database, but was found in heterozygous state in 2 of 121,242 alleles in the ExAC database. Functional studies of the variants and studies of patient cells were not performed, but the report demonstrated that the W284S mutation is not restricted to the Native American population. </p><p>In 17 patients with CMYO13 from 11 apparently unrelated families of non-Native American descent, Zaharieva et al. (2018) identified homozygosity for the W84S mutation in the STAC3 gene. In another patient (PN5), of Afro-Caribbean descent, they identified compound heterozygosity for the W84S substitution and a splice site mutation (c.997-1G-T; 615521.0005) in STAC3, which abolished the acceptor splice site of exon 12, leading to activation of a cryptic acceptor site within exon 12. cDNA sequencing confirmed a 12-bp in-frame deletion, which eliminated 4 amino acids from the second SH3 domain. The mutations segregated with the disorder in all of the families. </p>
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<span class="mim-font">
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<strong>.0002 CONGENITAL MYOPATHY 13</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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STAC3, LYS288TER
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SNP: rs371720347,
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gnomAD: rs371720347,
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ClinVar: RCV000487670, RCV000677630, RCV001267514
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<span class="mim-text-font">
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<p>In a 19-year-old man, born of unrelated Turkish parents, with congenital myopathy-13 (CMYO13; 255995), Grzybowski et al. (2017) identified compound heterozygous mutations in the STAC3 gene: a c.862A-T transversion (c.862A-T, NM_145064.2), resulting in a lys288-to-ter (K288X) substitution in the first SH3 domain, and an A-to-T transversion in intron 4 (c.432+4A-T; 615521.0003), which was demonstrated to result in abnormal splicing and the production of several abnormal transcripts. The mutations, which were identified by next-generation sequencing of a panel of genes and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed, but the mutations were predicted to result in a loss of function. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 CONGENITAL MYOPATHY 13</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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STAC3, IVS4DS, A-T, +4
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<br />
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SNP: rs751033943,
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gnomAD: rs751033943,
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ClinVar: RCV000487958, RCV000677631
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<span class="mim-text-font">
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<p>For discussion of the A-to-T transversion in intron 4 of the STAC3 gene (c.432+4A-T, NM_145064.2) that was found in compound heterozygous state in a patient with congenital myopathy-13 (CMYO13; 255995) by Grzybowski et al. (2017), see 615521.0002. </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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<h4>
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<span class="mim-font">
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<strong>.0004 CONGENITAL MYOPATHY 13</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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STAC3, 4-BP DEL, 763CTCT
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<br />
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SNP: rs773050511,
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gnomAD: rs773050511,
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ClinVar: RCV000677632
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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>For discussion of the 4-bp deletion (c.763_766delCTCT, NM_145064.2) in the STAC3 gene, predicted to result in a frameshift and premature termination (Leu255Il3Ter58), that was found in compound heterozygous state in 2 sibs with congenital myopathy-13 (CMYO13; 255995) by Telegrafi et al. (2017), see 615521.0001. </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>.0005 CONGENITAL MYOPATHY 13</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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STAC3, IVS11AS, G-T, -1
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<br />
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SNP: rs779483367,
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gnomAD: rs779483367,
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ClinVar: RCV000851531
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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>For discussion of the splice site variant (c.997-G-T, NM_145064.2) in the STAC3 gene that was found in compound heterozygous state in a patient (PN5) of Afro-Caribbean descent with congenital myopathy-13 (CMYO13; 255995) by Zaharieva et al. (2018), see 615521.0001. </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>REFERENCES</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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<ol>
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<li>
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<p class="mim-text-font">
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Grzybowski, N., Schanzer, A., Pepler, A., Heller, C., Neubauer, B. A., Hahn, A.
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<strong>Novel STAC3 mutations in the first non-Native American patient with Native American myopathy.</strong>
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Neuropediatrics 48: 451-455, 2017.
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[PubMed: 28411587]
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[Full Text: https://doi.org/10.1055/s-0037-1601868]
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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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Horstick, E. J., Linsley, J. W., Dowling, J. J., Hauser, M. A., McDonald, K. K., Ashley-Koch, A., Saint-Amant, L., Satish, A., Cui, W. W., Zhou, W., Sprague, S. M., Stamm, D. S., Powell, C. M., Speer, M. C., Franzini-Armstrong, C., Hirata, H., Kuwada, J. Y.
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<strong>Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.</strong>
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Nature Commun. 4: 1952, 2013. Note: Electronic Article.
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[PubMed: 23736855]
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[Full Text: https://doi.org/10.1038/ncomms2952]
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</li>
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<li>
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<p class="mim-text-font">
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Telegrafi, A., Webb, B. D., Robbins, S. M., Speck-Martins, C. E., FitzPatrick, D., Fleming, L., Redett, R., Dufke, A., Houge, G., van Harssel, J. J. T., Verloes, A., Robles, A., Manoli, I., Engle, E. C., Moebius Syndrome Research Consortium, Jabs, E. W., Valle, D., Carey, J., Hoover-Fong, J. E., Sobreira, N. L. M.
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<strong>Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.</strong>
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Am. J. Med. Genet. 173A: 2763-2771, 2017.
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[PubMed: 28777491]
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[Full Text: https://doi.org/10.1002/ajmg.a.38375]
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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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Zaharieva, I. T., Sarkozy, A., Munot, P., Manzur, A., O'Grady, G., Rendu, J., Malfatti, E., Amthor, H., Servais, L., Urtizberea, J. A., Neto, O. A., Zanoteli, E., and 23 others.
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<strong>STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.</strong>
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Hum. Mutat. 39: 1980-1994, 2018.
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[PubMed: 30168660]
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[Full Text: https://doi.org/10.1002/humu.23635]
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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 class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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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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Sonja A. Rasmussen - updated : 06/04/2020<br>Cassandra L. Kniffin - updated : 08/21/2018
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Alan F. Scott : 11/11/2013
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Edit History:
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<span class="mim-text-font">
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alopez : 07/16/2024<br>alopez : 03/10/2023<br>carol : 06/04/2020<br>carol : 08/27/2018<br>carol : 08/21/2018<br>ckniffin : 08/21/2018<br>carol : 11/13/2013<br>carol : 11/12/2013
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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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