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Entry
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- *608214 - SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 3; SCN3B
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- OMIM
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<p>
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<span class="h4">*608214</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<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="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</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/608214">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 role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000166257;t=ENST00000299333" 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=55800" 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=608214" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<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=ENSG00000166257;t=ENST00000299333" 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_001040151,NM_018400,XM_011542897" 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_001040151" 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=608214" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=10497&isoform_id=10497_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/SCN3B" 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/7160975,9055238,12229762,13276681,93587332,109658544,116496851,119587954,119587955,119587956,146048316,189069447,767970364,929654270,2462526371" 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/Q9NY72" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=55800" 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=ENSG00000166257;t=ENST00000299333" 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=SCN3B" 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=SCN3B" 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+55800" 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/SCN3B" 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:55800" 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/55800" 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=chr11&hgg_gene=ENST00000299333.8&hgg_start=123629188&hgg_end=123654624&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:20665" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608214[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=608214[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/ENSG00000166257" 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=SCN3B" 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=SCN3B" 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=SCN3B" 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=SCN3B&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/PA130546912" 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:20665" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1918882" 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/SCN3B#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:1918882" 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/55800/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=55800" 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://zfin.org/ZDB-GENE-070920-2" 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=SCN3B&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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</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>
|
|
608214
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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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SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 3; SCN3B
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
SODIUM CHANNEL, VOLTAGE-GATED, TYPE III, BETA SUBUNIT<br />
|
|
SODIUM CHANNEL, BETA-3 SUBUNIT; SCNB3
|
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</span>
|
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</h4>
|
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</div>
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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=SCN3B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SCN3B</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">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/11/1045?start=-3&limit=10&highlight=1045">11q24.1</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:123629188-123654624&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">11:123,629,188-123,654,624</a> </span>
|
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</em>
|
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</strong>
|
|
<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="2">
|
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<span class="mim-font">
|
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<a href="/geneMap/11/1045?start=-3&limit=10&highlight=1045">
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11q24.1
|
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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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Atrial fibrillation, familial, 16
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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/613120"> 613120 </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 dominant">AD</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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<tr>
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<td>
|
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<span class="mim-font">
|
|
Brugada syndrome 7
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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/613120"> 613120 </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 dominant">AD</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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/608214" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/608214" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<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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|
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<span class="mim-font">
|
|
<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.">
|
|
<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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<p>Voltage-sensitive sodium channel beta subunits, such as SCN3B, are auxiliary components that regulate the ion-conducting alpha subunits (summary by <a href="#2" class="mim-tip-reference" title="Morgan, K., Stevens, E. B., Shah, B., Cox, P. J., Dixon, A. K., Lee, K., Pinnock, R. D., Hughes, J., Richardson, P. J., Mizuguchi, K., Jackson, A. P. <strong>Beta-3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics.</strong> Proc. Nat. Acad. Sci. 97: 2308-2313, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10688874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10688874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10688874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.030362197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10688874">Morgan et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10688874" 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="Morgan, K., Stevens, E. B., Shah, B., Cox, P. J., Dixon, A. K., Lee, K., Pinnock, R. D., Hughes, J., Richardson, P. J., Mizuguchi, K., Jackson, A. P. <strong>Beta-3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics.</strong> Proc. Nat. Acad. Sci. 97: 2308-2313, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10688874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10688874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10688874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.030362197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10688874">Morgan et al. (2000)</a> cloned rat Scn3b and, using the rat sequence as probe, isolated human SCN3B from a striatal cDNA library. The deduced 215-amino acid SCN3B protein has an N-terminal signal sequence, an extracellular N-terminal domain, a single membrane-spanning region, and a C-terminal cytoplasmic region. The extracellular domain shows homology to proteins that adopt a V-type Ig fold, which is composed of 10 beta strands that form 2 antiparallel sheets. Northern blot analysis of rat tissues detected a 4.0-kb transcript in brain, and RT-PCR detected expression also in rat adrenal gland and kidney. In situ hybridization of rat brain detected highest expression of Scn3b in forebrain structures and in the hippocampus. In most areas, expression of Scn3b complemented the expression of Scn1b (<a href="/entry/600235">600235</a>). The exception was hippocampus, where both subunits were expressed at high levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10688874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By Western blot analysis, <a href="#1" class="mim-tip-reference" title="Hu, D., Barajas-Martinez, H., Burashnikov, E., Springer, M., Wu, Y., Varro, A., Pfeiffer, R., Koopmann, T. T., Cordeiro, J. M., Guerchicoff, A., Pollevick, G. D., Antzelevitch, C. <strong>A mutation in the beta-3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype.</strong> Circ. Cardiovasc. Genet. 2: 270-278, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20031595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20031595</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20031595[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/10.1161/CIRCGENETICS.108.829192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20031595">Hu et al. (2009)</a> confirmed the presence of the beta-3 subunit of the sodium channel in human ventricular myocardium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20031595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By quantitative PCR analysis, <a href="#3" class="mim-tip-reference" title="Olesen, M. S., Jespersen, T., Nielsen, J. B., Liang, B., Moller, D. V., Hedley, P., Christiansen, M., Varro, A., Olesen, S.-P., Haunso, S., Schmitt, N., Svendsen, J. H. <strong>Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation.</strong> Cardiovasc. Res. 89: 786-793, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21051419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21051419</a>] [<a href="https://doi.org/10.1093/cvr/cvq348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21051419">Olesen et al. (2011)</a> demonstrated expression of SCN3B in human atria and ventricles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21051419" 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>By functional expression of rat Scn3b or Scn1b with rat Scn2a (<a href="/entry/182390">182390</a>) in Xenopus oocytes, <a href="#2" class="mim-tip-reference" title="Morgan, K., Stevens, E. B., Shah, B., Cox, P. J., Dixon, A. K., Lee, K., Pinnock, R. D., Hughes, J., Richardson, P. J., Mizuguchi, K., Jackson, A. P. <strong>Beta-3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics.</strong> Proc. Nat. Acad. Sci. 97: 2308-2313, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10688874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10688874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10688874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.030362197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10688874">Morgan et al. (2000)</a> determined that both Scn3b and Scn1b caused a hyperpolarizing shift in the voltage-dependence of inactivation and modulated the alpha subunit by increasing the fraction of channels operating in the fast-gating mode. The kinetics were distinct, with Scn3b inactivating channel opening more slowly than Scn1b. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10688874" 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="#5" class="mim-tip-reference" title="Wang, P., Yang, Q., Wu, X., Yang, Y., Shi, L., Wang, C., Wu, G., Xia, Y., Yang, B., Zhang, R., Xu, C., Cheng, X., Li, S., Zhao, Y., Fu, F., Liao, Y., Fang, F., Chen, Q., Tu, X., Wang, Q. K. <strong>Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population.</strong> Biochem. Biophys. Res. Commun. 398: 98-104, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20558140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20558140</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20558140[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/10.1016/j.bbrc.2010.06.042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20558140">Wang et al. (2010)</a> noted that the SCN3B gene contains 5 coding exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20558140" 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>By radiation hybrid analysis, <a href="#2" class="mim-tip-reference" title="Morgan, K., Stevens, E. B., Shah, B., Cox, P. J., Dixon, A. K., Lee, K., Pinnock, R. D., Hughes, J., Richardson, P. J., Mizuguchi, K., Jackson, A. P. <strong>Beta-3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics.</strong> Proc. Nat. Acad. Sci. 97: 2308-2313, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10688874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10688874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10688874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.030362197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10688874">Morgan et al. (2000)</a> mapped the SCN3B gene to chromosome 11q23.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10688874" 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><strong><em>Brugada Syndrome 7</em></strong></p><p>
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In a 64-year-old man with Brugada syndrome (BRGDA7; <a href="/entry/613120">613120</a>), who was negative for mutation in 9 'Brugada-susceptibility' genes, <a href="#1" class="mim-tip-reference" title="Hu, D., Barajas-Martinez, H., Burashnikov, E., Springer, M., Wu, Y., Varro, A., Pfeiffer, R., Koopmann, T. T., Cordeiro, J. M., Guerchicoff, A., Pollevick, G. D., Antzelevitch, C. <strong>A mutation in the beta-3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype.</strong> Circ. Cardiovasc. Genet. 2: 270-278, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20031595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20031595</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20031595[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/10.1161/CIRCGENETICS.108.829192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20031595">Hu et al. (2009)</a> identified heterozygosity for a missense mutation in the SCN3B gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20031595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Atrial Fibrillation 16</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Wang, P., Yang, Q., Wu, X., Yang, Y., Shi, L., Wang, C., Wu, G., Xia, Y., Yang, B., Zhang, R., Xu, C., Cheng, X., Li, S., Zhao, Y., Fu, F., Liao, Y., Fang, F., Chen, Q., Tu, X., Wang, Q. K. <strong>Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population.</strong> Biochem. Biophys. Res. Commun. 398: 98-104, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20558140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20558140</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20558140[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/10.1016/j.bbrc.2010.06.042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20558140">Wang et al. (2010)</a> sequenced the SCN3B gene in 477 patients with atrial fibrillation (AF) from the GeneID Han Chinese population, and identified 1 patient with lone AF (ATFB16; see <a href="/entry/613120">613120</a>) who was heterozygous for a missense mutation (A130V; <a href="#0003">608214.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20558140" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Olesen, M. S., Jespersen, T., Nielsen, J. B., Liang, B., Moller, D. V., Hedley, P., Christiansen, M., Varro, A., Olesen, S.-P., Haunso, S., Schmitt, N., Svendsen, J. H. <strong>Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation.</strong> Cardiovasc. Res. 89: 786-793, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21051419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21051419</a>] [<a href="https://doi.org/10.1093/cvr/cvq348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21051419">Olesen et al. (2011)</a> analyzed the SCN3B and SCN4B (<a href="/entry/608256">608256</a>) genes in 192 unrelated Danish patients with early-onset lone AF, and identified 3 missense mutations in the SCN3B gene (see, e.g., <a href="#0004">608214.0004</a> and <a href="#0005">608214.0005</a>), including the L10P substitution (<a href="#0001">608214.0001</a>) that had previously been found in a patient with Brugada syndrome. The 3 mutation-positive patients were screened for mutations in 10 known AF-associated genes; a missense variant in the SCN5A gene that did not appear to be pathogenic was detected in 1 of the patients (see <a href="#0004">608214.0004</a>). A flecainide test performed in 1 of the patients did not induce a Brugada-like ECG pattern. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21051419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Possible Association with Ventricular Fibrillation</em></strong></p><p>
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In a 20-year-old man who had a single episode of ventricular fibrillation and who was negative for mutation in 6 cardiac arrhythmia-associated genes, <a href="#4" class="mim-tip-reference" title="Valdivia, C. R., Medeiros-Domingo, A., Ye, B., Shen, W.-K., Algiers, T. J., Ackerman, M. J., Makielski, J. C. <strong>Loss-of-function mutation of the SCN3B-encoded sodium channel beta-3 subunit associated with a case of idiopathic ventricular fibrillation.</strong> Cardiovasc. Res. 86: 392-400, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20042427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20042427</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20042427[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/10.1093/cvr/cvp417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20042427">Valdivia et al. (2010)</a> identified a heterozygous missense mutation in the SCN3B gene (V54G; <a href="#0002">608214.0002</a>). However, the mutation was also detected in his unaffected mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20042427" 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>5 Selected Examples</a>):</strong>
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<a href="/allelicVariants/608214" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608214[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 BRUGADA SYNDROME 7</strong>
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ATRIAL FIBRILLATION 16, INCLUDED
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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> rs121918282 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918282;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/rs121918282?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=rs121918282" 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=rs121918282" 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=RCV000002574 OR RCV000128811 OR RCV000171069 OR RCV000171567 OR RCV000220802 OR RCV000250087" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002574, RCV000128811, RCV000171069, RCV000171567, RCV000220802, RCV000250087" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002574...</a>
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<p><strong><em>Brugada Syndrome 7</em></strong></p><p>
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In a 64-year-old man with Brugada syndrome-7 (<a href="/entry/613120">613120</a>), <a href="#1" class="mim-tip-reference" title="Hu, D., Barajas-Martinez, H., Burashnikov, E., Springer, M., Wu, Y., Varro, A., Pfeiffer, R., Koopmann, T. T., Cordeiro, J. M., Guerchicoff, A., Pollevick, G. D., Antzelevitch, C. <strong>A mutation in the beta-3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype.</strong> Circ. Cardiovasc. Genet. 2: 270-278, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20031595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20031595</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20031595[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/10.1161/CIRCGENETICS.108.829192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20031595">Hu et al. (2009)</a> identified heterozygosity for a 29T-C transition in exon 1 of the SCN3B gene, resulting in a leu10-to-pro (L10P) substitution at a highly conserved residue in the extracellular domain. The mutation was not found in the proband's unaffected brother or in 360 Caucasian, 120 Turkish, and 112 Sephardic Jewish reference alleles. Coexpression of wildtype SCN5A (<a href="/entry/600163">600163</a>) and SCN1B (<a href="/entry/600235">600235</a>) with mutant SCN3B resulted in an 82.6% decrease in peak sodium current density, accelerated inactivation, slowed reactivation, and a -9.6-mV shift of half-inactivation voltage compared to all-wildtype coexpression. Confocal microscopy revealed that when coexpressed with wildtype SCN1B and L10P-mutant SCN3B, wildtype SCN5A channels remain trapped in intracellular organelles rather than localizing to the cell surface. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20031595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Atrial Fibrillation 16</em></strong></p><p>
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In a Danish man with persistent atrial fibrillation (ATFB16; see <a href="/entry/613120">613120</a>) that began at 35 years of age, <a href="#3" class="mim-tip-reference" title="Olesen, M. S., Jespersen, T., Nielsen, J. B., Liang, B., Moller, D. V., Hedley, P., Christiansen, M., Varro, A., Olesen, S.-P., Haunso, S., Schmitt, N., Svendsen, J. H. <strong>Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation.</strong> Cardiovasc. Res. 89: 786-793, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21051419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21051419</a>] [<a href="https://doi.org/10.1093/cvr/cvq348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21051419">Olesen et al. (2011)</a> identified heterozygosity for the L10P mutation in the SCN3B gene. There was no family history of AF; his mother, who did not carry the mutation, had premature atrial complexes on ECG. The patient declined flecainide testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21051419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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SCN3B, VAL54GLY
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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> rs587777555 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777555;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/rs587777555?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=rs587777555" 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=rs587777555" 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=RCV000128812 OR RCV001243331 OR RCV002399507" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000128812, RCV001243331, RCV002399507" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000128812...</a>
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<p>This variant is classified as a variant of unknown significance because its contribution to ventricular fibrillation (see <a href="/entry/603829">603829</a>) has not been confirmed.</p><p>In a 20-year-old man who had a single episode of ventricular fibrillation, <a href="#4" class="mim-tip-reference" title="Valdivia, C. R., Medeiros-Domingo, A., Ye, B., Shen, W.-K., Algiers, T. J., Ackerman, M. J., Makielski, J. C. <strong>Loss-of-function mutation of the SCN3B-encoded sodium channel beta-3 subunit associated with a case of idiopathic ventricular fibrillation.</strong> Cardiovasc. Res. 86: 392-400, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20042427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20042427</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20042427[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/10.1093/cvr/cvp417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20042427">Valdivia et al. (2010)</a> identified heterozygosity for a 161T-G transversion in the SCN3B gene, resulting in a val54-to-gly (V54G) substitution at a highly conserved residue in the extracellular domain of the Nav-beta-3 subunit. The mutation, which was also detected in the patient's asymptomatic mother, was not found in 800 reference alleles. Functional analysis in HEK293 cells showed changes in kinetics that were consistent with a loss of function, including a significant decrease in peak sodium current density with the mutant compared to wildtype, as well as a depolarizing shift of the voltage dependence of activation and loss of the normal negative shift at the midpoint of inactivation. Coimmunoprecipitation experiments showed association of Nav-beta-3 with Nav1.5 (SCN5A; <a href="/entry/600163">600163</a>), and immunocytochemistry demonstrated a dramatic decrease in trafficking to the plasma membrane when coexpressed with the V54G Nav-beta-3 mutant. The patient was otherwise healthy when he lost consciousness while playing basketball at age 20 years, and was resuscitated from ventricular fibrillation by emergency responders. He had no history of syncopal episodes, and there was no family history of sudden death. Subsequent cardiac evaluation was negative except for an epsilon wave in the right precordial leads on electrocardiography (ECG). A cardioverter-defibrillator was implanted, and no subsequent events occurred over 8 years of follow-up. The proband's asymptomatic mother displayed J-point elevation on ECG. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20042427" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0003" class="mim-anchor"></a>
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<strong>.0003 ATRIAL FIBRILLATION, FAMILIAL, 16</strong>
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SCN3B, ALA130VAL
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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> rs587777556 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777556;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/rs587777556?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=rs587777556" 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=rs587777556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000128813 OR RCV000480040 OR RCV001320720" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000128813, RCV000480040, RCV001320720" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000128813...</a>
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<p>In a 46-year-old Han Chinese man with paroxysmal lone atrial fibrillation (ATFB16; see <a href="/entry/613120">613120</a>), who had no other cardiac or systemic abnormalities, <a href="#5" class="mim-tip-reference" title="Wang, P., Yang, Q., Wu, X., Yang, Y., Shi, L., Wang, C., Wu, G., Xia, Y., Yang, B., Zhang, R., Xu, C., Cheng, X., Li, S., Zhao, Y., Fu, F., Liao, Y., Fang, F., Chen, Q., Tu, X., Wang, Q. K. <strong>Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population.</strong> Biochem. Biophys. Res. Commun. 398: 98-104, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20558140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20558140</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20558140[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/10.1016/j.bbrc.2010.06.042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20558140">Wang et al. (2010)</a> identified heterozygosity for a 389C-T transition in exon 3 of the SCN3B gene, resulting in an ala130-to-val (A130V) substitution. Family members declined genetic analysis; however, the mutation was not found in 500 ethnically matched controls. Functional analysis in HEK293 cells showed that the A130V mutant significantly decreased the sodium current density by a dominant-negative mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20558140" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 ATRIAL FIBRILLATION, FAMILIAL, 16</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777558 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777558;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777558" 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=rs587777558" 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=RCV000128815" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000128815" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000128815</a>
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<p>In a Danish man with persistent atrial fibrillation (ATFB16; see <a href="/entry/613120">613120</a>), who had onset of lone AF at 39 years of age, <a href="#3" class="mim-tip-reference" title="Olesen, M. S., Jespersen, T., Nielsen, J. B., Liang, B., Moller, D. V., Hedley, P., Christiansen, M., Varro, A., Olesen, S.-P., Haunso, S., Schmitt, N., Svendsen, J. H. <strong>Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation.</strong> Cardiovasc. Res. 89: 786-793, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21051419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21051419</a>] [<a href="https://doi.org/10.1093/cvr/cvq348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21051419">Olesen et al. (2011)</a> identified heterozygosity for a c.17G-A transition in the SCN3B gene, resulting in an arg6-to-lys (R6K) substitution at a highly conserved residue. The mutation was not found in 432 control alleles. Coexpression of wildtype SCN5A (<a href="/entry/600163">600163</a>) and SCN1B (<a href="/entry/600235">600235</a>) with R6K-mutant SCN3B resulted in a significant negative shift of the voltage dependence of inactivation compared to wildtype. The patient's deceased mother and aunt had permanent AF late in life. The patient was highly symptomatic, and had undergone 12 DC conversions as well as 3 radiofrequency ablation procedures. Flecainide testing did not induce a Brugada-like ECG pattern. Analysis of 10 known AF-associated genes revealed that the patient also carried a missense variant in the SCN5A gene; the SCN5A variant caused no changes in activation/inactivation parameters or in peak current density and was not believed to be pathogenic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21051419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0005 ATRIAL FIBRILLATION, FAMILIAL, 16</strong>
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SCN3B, MET161THR
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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> rs587777557 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777557;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/rs587777557?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=rs587777557" 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=rs587777557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000128814" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000128814" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000128814</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p>In a Danish man with paroxysmal atrial fibrillation (ATFB16; see <a href="/entry/613120">613120</a>), who had onset of lone AF at 36 years of age, <a href="#3" class="mim-tip-reference" title="Olesen, M. S., Jespersen, T., Nielsen, J. B., Liang, B., Moller, D. V., Hedley, P., Christiansen, M., Varro, A., Olesen, S.-P., Haunso, S., Schmitt, N., Svendsen, J. H. <strong>Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation.</strong> Cardiovasc. Res. 89: 786-793, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21051419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21051419</a>] [<a href="https://doi.org/10.1093/cvr/cvq348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21051419">Olesen et al. (2011)</a> identified heterozygosity for a c.482T-C transition in the SCN3B gene, resulting in a met161-to-thr (M161T) substitution at a highly conserved residue. The mutation was not found in 432 control alleles. Coexpression of wildtype SCN5A (<a href="/entry/600163">600163</a>) and SCN1B (<a href="/entry/600235">600235</a>) with M161T-mutant SCN3B resulted in a 57% decrease in peak current density compared to wildtype. There was no family history of AF; Holter monitoring showed a large number of premature ventricular complexes. The patient was not available for flecainide testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21051419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<div>
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<a id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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<li>
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<a id="1" class="mim-anchor"></a>
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<a id="Hu2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hu, D., Barajas-Martinez, H., Burashnikov, E., Springer, M., Wu, Y., Varro, A., Pfeiffer, R., Koopmann, T. T., Cordeiro, J. M., Guerchicoff, A., Pollevick, G. D., Antzelevitch, C.
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<strong>A mutation in the beta-3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype.</strong>
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Circ. Cardiovasc. Genet. 2: 270-278, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20031595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20031595</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20031595[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=20031595" 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/10.1161/CIRCGENETICS.108.829192" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Morgan2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Morgan, K., Stevens, E. B., Shah, B., Cox, P. J., Dixon, A. K., Lee, K., Pinnock, R. D., Hughes, J., Richardson, P. J., Mizuguchi, K., Jackson, A. P.
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<strong>Beta-3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics.</strong>
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Proc. Nat. Acad. Sci. 97: 2308-2313, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10688874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10688874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10688874[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=10688874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.030362197" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Olesen2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Olesen, M. S., Jespersen, T., Nielsen, J. B., Liang, B., Moller, D. V., Hedley, P., Christiansen, M., Varro, A., Olesen, S.-P., Haunso, S., Schmitt, N., Svendsen, J. H.
|
|
<strong>Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation.</strong>
|
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Cardiovasc. Res. 89: 786-793, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21051419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21051419</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21051419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/cvr/cvq348" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Valdivia2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Valdivia, C. R., Medeiros-Domingo, A., Ye, B., Shen, W.-K., Algiers, T. J., Ackerman, M. J., Makielski, J. C.
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<strong>Loss-of-function mutation of the SCN3B-encoded sodium channel beta-3 subunit associated with a case of idiopathic ventricular fibrillation.</strong>
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Cardiovasc. Res. 86: 392-400, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20042427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20042427</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20042427[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=20042427" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/cvr/cvp417" target="_blank">Full Text</a>]
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</p>
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<a id="5" class="mim-anchor"></a>
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<a id="Wang2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, P., Yang, Q., Wu, X., Yang, Y., Shi, L., Wang, C., Wu, G., Xia, Y., Yang, B., Zhang, R., Xu, C., Cheng, X., Li, S., Zhao, Y., Fu, F., Liao, Y., Fang, F., Chen, Q., Tu, X., Wang, Q. K.
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<strong>Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population.</strong>
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Biochem. Biophys. Res. Commun. 398: 98-104, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20558140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20558140</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20558140[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=20558140" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.bbrc.2010.06.042" target="_blank">Full Text</a>]
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</p>
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 7/22/2014
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 11/11/2009
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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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Patricia A. Hartz : 10/30/2003
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </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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carol : 09/01/2020
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<span class="mim-text-font">
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carol : 01/16/2020<br>carol : 04/26/2017<br>carol : 03/11/2015<br>carol : 8/1/2014<br>alopez : 7/24/2014<br>alopez : 7/23/2014<br>alopez : 7/23/2014<br>mcolton : 7/22/2014<br>carol : 6/13/2013<br>carol : 12/15/2011<br>wwang : 11/11/2009<br>terry : 11/11/2009<br>carol : 10/4/2006<br>mgross : 10/30/2003
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<span class="mim-font">
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<strong>*</strong> 608214
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<div>
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<h3>
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<span class="mim-font">
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SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 3; SCN3B
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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SODIUM CHANNEL, VOLTAGE-GATED, TYPE III, BETA SUBUNIT<br />
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SODIUM CHANNEL, BETA-3 SUBUNIT; SCNB3
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</span>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SCN3B</em></strong>
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Cytogenetic location: 11q24.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:123,629,188-123,654,624 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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<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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</th>
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<th>
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Phenotype <br /> MIM number
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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11q24.1
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</td>
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<td>
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<span class="mim-font">
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Atrial fibrillation, familial, 16
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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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613120
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Brugada syndrome 7
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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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613120
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</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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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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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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<span class="mim-text-font">
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<p>Voltage-sensitive sodium channel beta subunits, such as SCN3B, are auxiliary components that regulate the ion-conducting alpha subunits (summary by Morgan et al., 2000). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Morgan et al. (2000) cloned rat Scn3b and, using the rat sequence as probe, isolated human SCN3B from a striatal cDNA library. The deduced 215-amino acid SCN3B protein has an N-terminal signal sequence, an extracellular N-terminal domain, a single membrane-spanning region, and a C-terminal cytoplasmic region. The extracellular domain shows homology to proteins that adopt a V-type Ig fold, which is composed of 10 beta strands that form 2 antiparallel sheets. Northern blot analysis of rat tissues detected a 4.0-kb transcript in brain, and RT-PCR detected expression also in rat adrenal gland and kidney. In situ hybridization of rat brain detected highest expression of Scn3b in forebrain structures and in the hippocampus. In most areas, expression of Scn3b complemented the expression of Scn1b (600235). The exception was hippocampus, where both subunits were expressed at high levels. </p><p>By Western blot analysis, Hu et al. (2009) confirmed the presence of the beta-3 subunit of the sodium channel in human ventricular myocardium. </p><p>By quantitative PCR analysis, Olesen et al. (2011) demonstrated expression of SCN3B in human atria and ventricles. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By functional expression of rat Scn3b or Scn1b with rat Scn2a (182390) in Xenopus oocytes, Morgan et al. (2000) determined that both Scn3b and Scn1b caused a hyperpolarizing shift in the voltage-dependence of inactivation and modulated the alpha subunit by increasing the fraction of channels operating in the fast-gating mode. The kinetics were distinct, with Scn3b inactivating channel opening more slowly than Scn1b. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wang et al. (2010) noted that the SCN3B gene contains 5 coding exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>By radiation hybrid analysis, Morgan et al. (2000) mapped the SCN3B gene to chromosome 11q23.3. </p>
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</span>
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<div>
|
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p><strong><em>Brugada Syndrome 7</em></strong></p><p>
|
|
In a 64-year-old man with Brugada syndrome (BRGDA7; 613120), who was negative for mutation in 9 'Brugada-susceptibility' genes, Hu et al. (2009) identified heterozygosity for a missense mutation in the SCN3B gene. </p><p><strong><em>Atrial Fibrillation 16</em></strong></p><p>
|
|
Wang et al. (2010) sequenced the SCN3B gene in 477 patients with atrial fibrillation (AF) from the GeneID Han Chinese population, and identified 1 patient with lone AF (ATFB16; see 613120) who was heterozygous for a missense mutation (A130V; 608214.0003). </p><p>Olesen et al. (2011) analyzed the SCN3B and SCN4B (608256) genes in 192 unrelated Danish patients with early-onset lone AF, and identified 3 missense mutations in the SCN3B gene (see, e.g., 608214.0004 and 608214.0005), including the L10P substitution (608214.0001) that had previously been found in a patient with Brugada syndrome. The 3 mutation-positive patients were screened for mutations in 10 known AF-associated genes; a missense variant in the SCN5A gene that did not appear to be pathogenic was detected in 1 of the patients (see 608214.0004). A flecainide test performed in 1 of the patients did not induce a Brugada-like ECG pattern. </p><p><strong><em>Possible Association with Ventricular Fibrillation</em></strong></p><p>
|
|
In a 20-year-old man who had a single episode of ventricular fibrillation and who was negative for mutation in 6 cardiac arrhythmia-associated genes, Valdivia et al. (2010) identified a heterozygous missense mutation in the SCN3B gene (V54G; 608214.0002). However, the mutation was also detected in his unaffected mother. </p>
|
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>5 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 BRUGADA SYNDROME 7</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
ATRIAL FIBRILLATION 16, INCLUDED
|
|
</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SCN3B, LEU10PRO
|
|
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|
|
<br />
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|
|
SNP: rs121918282,
|
|
|
|
|
|
gnomAD: rs121918282,
|
|
|
|
|
|
ClinVar: RCV000002574, RCV000128811, RCV000171069, RCV000171567, RCV000220802, RCV000250087
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p />
|
|
<p><strong><em>Brugada Syndrome 7</em></strong></p><p>
|
|
In a 64-year-old man with Brugada syndrome-7 (613120), Hu et al. (2009) identified heterozygosity for a 29T-C transition in exon 1 of the SCN3B gene, resulting in a leu10-to-pro (L10P) substitution at a highly conserved residue in the extracellular domain. The mutation was not found in the proband's unaffected brother or in 360 Caucasian, 120 Turkish, and 112 Sephardic Jewish reference alleles. Coexpression of wildtype SCN5A (600163) and SCN1B (600235) with mutant SCN3B resulted in an 82.6% decrease in peak sodium current density, accelerated inactivation, slowed reactivation, and a -9.6-mV shift of half-inactivation voltage compared to all-wildtype coexpression. Confocal microscopy revealed that when coexpressed with wildtype SCN1B and L10P-mutant SCN3B, wildtype SCN5A channels remain trapped in intracellular organelles rather than localizing to the cell surface. </p><p><strong><em>Atrial Fibrillation 16</em></strong></p><p>
|
|
In a Danish man with persistent atrial fibrillation (ATFB16; see 613120) that began at 35 years of age, Olesen et al. (2011) identified heterozygosity for the L10P mutation in the SCN3B gene. There was no family history of AF; his mother, who did not carry the mutation, had premature atrial complexes on ECG. The patient declined flecainide testing. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SCN3B, VAL54GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777555,
|
|
|
|
|
|
gnomAD: rs587777555,
|
|
|
|
|
|
ClinVar: RCV000128812, RCV001243331, RCV002399507
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This variant is classified as a variant of unknown significance because its contribution to ventricular fibrillation (see 603829) has not been confirmed.</p><p>In a 20-year-old man who had a single episode of ventricular fibrillation, Valdivia et al. (2010) identified heterozygosity for a 161T-G transversion in the SCN3B gene, resulting in a val54-to-gly (V54G) substitution at a highly conserved residue in the extracellular domain of the Nav-beta-3 subunit. The mutation, which was also detected in the patient's asymptomatic mother, was not found in 800 reference alleles. Functional analysis in HEK293 cells showed changes in kinetics that were consistent with a loss of function, including a significant decrease in peak sodium current density with the mutant compared to wildtype, as well as a depolarizing shift of the voltage dependence of activation and loss of the normal negative shift at the midpoint of inactivation. Coimmunoprecipitation experiments showed association of Nav-beta-3 with Nav1.5 (SCN5A; 600163), and immunocytochemistry demonstrated a dramatic decrease in trafficking to the plasma membrane when coexpressed with the V54G Nav-beta-3 mutant. The patient was otherwise healthy when he lost consciousness while playing basketball at age 20 years, and was resuscitated from ventricular fibrillation by emergency responders. He had no history of syncopal episodes, and there was no family history of sudden death. Subsequent cardiac evaluation was negative except for an epsilon wave in the right precordial leads on electrocardiography (ECG). A cardioverter-defibrillator was implanted, and no subsequent events occurred over 8 years of follow-up. The proband's asymptomatic mother displayed J-point elevation on ECG. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 ATRIAL FIBRILLATION, FAMILIAL, 16</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SCN3B, ALA130VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777556,
|
|
|
|
|
|
gnomAD: rs587777556,
|
|
|
|
|
|
ClinVar: RCV000128813, RCV000480040, RCV001320720
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 46-year-old Han Chinese man with paroxysmal lone atrial fibrillation (ATFB16; see 613120), who had no other cardiac or systemic abnormalities, Wang et al. (2010) identified heterozygosity for a 389C-T transition in exon 3 of the SCN3B gene, resulting in an ala130-to-val (A130V) substitution. Family members declined genetic analysis; however, the mutation was not found in 500 ethnically matched controls. Functional analysis in HEK293 cells showed that the A130V mutant significantly decreased the sodium current density by a dominant-negative mechanism. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 ATRIAL FIBRILLATION, FAMILIAL, 16</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SCN3B, ARG6LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777558,
|
|
|
|
|
|
|
|
ClinVar: RCV000128815
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Danish man with persistent atrial fibrillation (ATFB16; see 613120), who had onset of lone AF at 39 years of age, Olesen et al. (2011) identified heterozygosity for a c.17G-A transition in the SCN3B gene, resulting in an arg6-to-lys (R6K) substitution at a highly conserved residue. The mutation was not found in 432 control alleles. Coexpression of wildtype SCN5A (600163) and SCN1B (600235) with R6K-mutant SCN3B resulted in a significant negative shift of the voltage dependence of inactivation compared to wildtype. The patient's deceased mother and aunt had permanent AF late in life. The patient was highly symptomatic, and had undergone 12 DC conversions as well as 3 radiofrequency ablation procedures. Flecainide testing did not induce a Brugada-like ECG pattern. Analysis of 10 known AF-associated genes revealed that the patient also carried a missense variant in the SCN5A gene; the SCN5A variant caused no changes in activation/inactivation parameters or in peak current density and was not believed to be pathogenic. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 ATRIAL FIBRILLATION, FAMILIAL, 16</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SCN3B, MET161THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777557,
|
|
|
|
|
|
gnomAD: rs587777557,
|
|
|
|
|
|
ClinVar: RCV000128814
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Danish man with paroxysmal atrial fibrillation (ATFB16; see 613120), who had onset of lone AF at 36 years of age, Olesen et al. (2011) identified heterozygosity for a c.482T-C transition in the SCN3B gene, resulting in a met161-to-thr (M161T) substitution at a highly conserved residue. The mutation was not found in 432 control alleles. Coexpression of wildtype SCN5A (600163) and SCN1B (600235) with M161T-mutant SCN3B resulted in a 57% decrease in peak current density compared to wildtype. There was no family history of AF; Holter monitoring showed a large number of premature ventricular complexes. The patient was not available for flecainide testing. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hu, D., Barajas-Martinez, H., Burashnikov, E., Springer, M., Wu, Y., Varro, A., Pfeiffer, R., Koopmann, T. T., Cordeiro, J. M., Guerchicoff, A., Pollevick, G. D., Antzelevitch, C.
|
|
<strong>A mutation in the beta-3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype.</strong>
|
|
Circ. Cardiovasc. Genet. 2: 270-278, 2009.
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|
|
|
|
|
[PubMed: 20031595]
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|
[Full Text: https://doi.org/10.1161/CIRCGENETICS.108.829192]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Morgan, K., Stevens, E. B., Shah, B., Cox, P. J., Dixon, A. K., Lee, K., Pinnock, R. D., Hughes, J., Richardson, P. J., Mizuguchi, K., Jackson, A. P.
|
|
<strong>Beta-3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics.</strong>
|
|
Proc. Nat. Acad. Sci. 97: 2308-2313, 2000.
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|
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|
|
[PubMed: 10688874]
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[Full Text: https://doi.org/10.1073/pnas.030362197]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Olesen, M. S., Jespersen, T., Nielsen, J. B., Liang, B., Moller, D. V., Hedley, P., Christiansen, M., Varro, A., Olesen, S.-P., Haunso, S., Schmitt, N., Svendsen, J. H.
|
|
<strong>Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation.</strong>
|
|
Cardiovasc. Res. 89: 786-793, 2011.
|
|
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|
|
[PubMed: 21051419]
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|
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[Full Text: https://doi.org/10.1093/cvr/cvq348]
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|
|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Valdivia, C. R., Medeiros-Domingo, A., Ye, B., Shen, W.-K., Algiers, T. J., Ackerman, M. J., Makielski, J. C.
|
|
<strong>Loss-of-function mutation of the SCN3B-encoded sodium channel beta-3 subunit associated with a case of idiopathic ventricular fibrillation.</strong>
|
|
Cardiovasc. Res. 86: 392-400, 2010.
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|
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[PubMed: 20042427]
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[Full Text: https://doi.org/10.1093/cvr/cvp417]
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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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Wang, P., Yang, Q., Wu, X., Yang, Y., Shi, L., Wang, C., Wu, G., Xia, Y., Yang, B., Zhang, R., Xu, C., Cheng, X., Li, S., Zhao, Y., Fu, F., Liao, Y., Fang, F., Chen, Q., Tu, X., Wang, Q. K.
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<strong>Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population.</strong>
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Biochem. Biophys. Res. Commun. 398: 98-104, 2010.
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[PubMed: 20558140]
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[Full Text: https://doi.org/10.1016/j.bbrc.2010.06.042]
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Marla J. F. O'Neill - updated : 7/22/2014<br>Marla J. F. O'Neill - updated : 11/11/2009
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