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Entry
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- *601327 - SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 2; SCN2B
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*601327</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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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/601327">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000149575;t=ENST00000278947" 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=6327" 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=601327" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000149575;t=ENST00000278947" 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_004588" 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_004588" 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=601327" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=03208&isoform_id=03208_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/SCN2B" 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/2944070,2944402,3309111,4759066,5702194,6649597,12229743,22477314,37183008,54695844,119587757,189054094" 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/O60939" 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=6327" 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=ENSG00000149575;t=ENST00000278947" 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=SCN2B" 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=SCN2B" 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+6327" 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/SCN2B" 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:6327" 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/6327" 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=ENST00000278947.6&hgg_start=118162806&hgg_end=118176639&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:10589" 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=601327[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=601327[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/ENSG00000149575" 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=SCN2B" 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=SCN2B" 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=SCN2B" 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=SCN2B&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/PA303" 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:10589" 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:106921" 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/SCN2B#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:106921" 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/6327/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=6327" 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-070920-1" 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=SCN2B&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>
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601327
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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 2; SCN2B
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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>
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<span class="mim-font">
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SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, BETA SUBUNIT<br />
|
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SODIUM CHANNEL, NEURONAL TYPE II, BETA SUBUNIT<br />
|
|
SODIUM CHANNEL, VOLTAGE-GATED, BETA-2 SUBUNIT
|
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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=SCN2B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SCN2B</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/11/977?start=-3&limit=10&highlight=977">11q23.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:118162806-118176639&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'})">11:118,162,806-118,176,639</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/11/977?start=-3&limit=10&highlight=977">
|
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11q23.3
|
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</a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Atrial fibrillation, familial, 14
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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/615378"> 615378 </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">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/601327" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601327" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</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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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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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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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>The beta-2 subunit of the mammalian brain voltage-gated sodium channel is a 186-residue glycoprotein that contains an extracellular N-terminal domain with similarity to the neural adhesion molecule contactin (<a href="/entry/600016">600016</a>), as well as a single transmembrane domain (<a href="#5" class="mim-tip-reference" title="Isom, L. L., Ragsdale, D. S., De Jongh, K. S., Westenbroek, R. E., Reber, B. F. X., Scheuer, T., Catterall, W. A. <strong>Structure and function of the beta-2 subunit of brain sodium channels, a transmembrane glycoprotein with a CAM motif.</strong> Cell 83: 433-442, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8521473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8521473</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90121-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8521473">Isom et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8521473" 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 immunocytochemical analysis of mouse brain sections, <a href="#2" class="mim-tip-reference" title="Chen, C., Bharucha, V., Chen, Y., Westenbroek, R. E., Brown, A., Malhotra, J. D., Jones, D., Avery, C., Gillespie, P. J., III, Kazen-Gillespie, K. A., Kazarinova-Noyes, K., Shrager, P., Saunders, T. L., Macdonald, R. L., Ransom, B. R., Scheur, T., Catterall, W. A., Isom, L. L. <strong>Reduced sodium channel density, altered voltage, dependence of inactivation, and increased susceptibility to seizures in mice lacking sodium channel beta-2-subunits.</strong> Proc. Nat. Acad. Sci. 99: 17072-17077, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12481039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12481039</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12481039[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.212638099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12481039">Chen et al. (2002)</a> found Scn2b in many regions of the nervous system, including the nodes of Ranvier of sciatic nerve and white matter tracts in the cerebellum, cell bodies of hippocampal and cortical pyramidal neurons, and cerebellar Purkinje neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12481039" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In nondiseased human heart tissue, <a href="#9" class="mim-tip-reference" title="Watanabe, H., Darbar, D., Kaiser, D. W., Jiramongkolchai, K., Chopra, S., Donahue, B. S., Kannankeril, P. J., Roden, D. M. <strong>Mutations in sodium channel beta-1- and beta-2-subunits associated with atrial fibrillation.</strong> Circ. Arrhythm. Electrophysiol. 2: 268-278, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19808477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19808477</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19808477[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/CIRCEP.108.779181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19808477">Watanabe et al. (2009)</a> observed expression of SCN2B transcript in both atrium and ventricle, with similar transcript levels in the 2 chambers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19808477" 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="#1" class="mim-tip-reference" title="Bolino, A., Seri, M., Caroli, F., Eubanks, J., Srinivasan, J., Mandich, P., Schenone, A., Quattrone, A., Romeo, G., Catterall, W. A., Devoto, M. <strong>Exclusion of the SCN2B gene as candidate for CMT4B.</strong> Europ. J. Hum. Genet. 6: 629-634, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887383</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9887383">Bolino et al. (1998)</a> reported that the SCN2B gene contains 4 exons and spans approximately 12 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9887383" 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 fluorescence in situ hybridization, <a href="#3" class="mim-tip-reference" title="Eubanks, J., Srinivasan, J., Dinulos, M. B., Disteche, C. M., Catterall, W. A. <strong>Structure and chromosomal localization of the beta2 subunit of the human brain sodium channel.</strong> Neuroreport 8: 2775-2779, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9295116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9295116</a>] [<a href="https://doi.org/10.1097/00001756-199708180-00025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9295116">Eubanks et al. (1997)</a> mapped the SCN2B gene to 11q23. <a href="#1" class="mim-tip-reference" title="Bolino, A., Seri, M., Caroli, F., Eubanks, J., Srinivasan, J., Mandich, P., Schenone, A., Quattrone, A., Romeo, G., Catterall, W. A., Devoto, M. <strong>Exclusion of the SCN2B gene as candidate for CMT4B.</strong> Europ. J. Hum. Genet. 6: 629-634, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887383</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9887383">Bolino et al. (1998)</a> confirmed the assignment of the SCN2B gene to chromosome 11q23. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9295116+9887383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Jones, J. M., Meisler, M. H., Isom, L. L. <strong>Scn2b, a voltage-gated sodium channel beta-2 gene on mouse chromosome 9.</strong> Genomics 34: 258-259, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661062</a>] [<a href="https://doi.org/10.1006/geno.1996.0279" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8661062">Jones et al. (1996)</a> used a rat brain Scn2b cDNA to map the mouse gene in interspecific backcrosses. They found that it is linked to markers from the central region of mouse chromosome 9 and noted that the neurologic mutation 'staggerer' (<a href="#4" class="mim-tip-reference" title="Imai, K., Kingsley, D. M. <strong>Mouse chromosome 9.</strong> Mammalian Genome 5: S139-S153, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719002</a>]" pmid="7719002">Imai and Kingsley, 1994</a>) had been mapped there also. No recombination was found with the Il10r gene (<a href="/entry/146933">146933</a>). Thus, mouse Scn2b is located within a conserved linkage group with orthologs on human chromosome 11q22-qter. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7719002+8661062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The large alpha subunits of mammalian voltage-gated sodium channels (e.g., <a href="/entry/182390">182390</a>) can generate a functional channel when expressed alone in Xenopus oocytes, but association with beta-1 (<a href="/entry/600235">600235</a>) or beta-2 subunits modifies channel function. <a href="#6" class="mim-tip-reference" title="Jones, J. M., Meisler, M. H., Isom, L. L. <strong>Scn2b, a voltage-gated sodium channel beta-2 gene on mouse chromosome 9.</strong> Genomics 34: 258-259, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661062</a>] [<a href="https://doi.org/10.1006/geno.1996.0279" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8661062">Jones et al. (1996)</a> stated that the beta-2 subunit is expressed in central neurons only, where covalent association with the alpha subunit is correlated with insertion into the cell membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8661062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using cell-based assays, <a href="#7" class="mim-tip-reference" title="Kim, D. Y., Carey, B. W., Wang, H., Ingano, L. A. M., Binshtok, A. M., Wertz, M. H., Pettingell, W. H., He, P., Lee, V. M.-Y., Woolf, C. J., Kovacs, D. M. <strong>BACE1 regulates voltage-gated sodium channels and neuronal activity.</strong> Nature Cell Biol. 9: 755-764, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17576410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17576410</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17576410[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncb1602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17576410">Kim et al. (2007)</a> showed that the voltage-gated sodium channel (Nav1) beta-2 subunit was sequentially cleaved by BACE1 (<a href="/entry/604252">604252</a>), which released the beta-2 C-terminal fragment, and by gamma-secretase (see PSEN1; <a href="/entry/104311">104311</a>), which released the beta-2 intracellular domain. Expression of the isolated beta-2 intracellular domain increased the mRNA and protein levels of the Nav1.1 alpha subunit (SCN1A; <a href="/entry/182389">182389</a>) in human and rodent neuroblastoma cells. Brains of BACE1-transgenic mice and Alzheimer disease (<a href="/entry/104300">104300</a>) patients with elevated BACE1 levels exhibited elevated levels of beta-2 C-terminal fragment and Nav1.1 protein. However, in both rodent neuroblastoma cells and adult hippocampal neurons from BACE1-transgenic mice, Nav1.1 accumulated inside the cell rather than at the cell surface, and there was marked reduction in Nav1-mediated sodium current density. <a href="#7" class="mim-tip-reference" title="Kim, D. Y., Carey, B. W., Wang, H., Ingano, L. A. M., Binshtok, A. M., Wertz, M. H., Pettingell, W. H., He, P., Lee, V. M.-Y., Woolf, C. J., Kovacs, D. M. <strong>BACE1 regulates voltage-gated sodium channels and neuronal activity.</strong> Nature Cell Biol. 9: 755-764, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17576410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17576410</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17576410[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncb1602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17576410">Kim et al. (2007)</a> concluded that BACE1 regulates cell surface sodium current densities via beta-2 cleavage and may contribute to neurodegeneration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17576410" 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 href="#9" class="mim-tip-reference" title="Watanabe, H., Darbar, D., Kaiser, D. W., Jiramongkolchai, K., Chopra, S., Donahue, B. S., Kannankeril, P. J., Roden, D. M. <strong>Mutations in sodium channel beta-1- and beta-2-subunits associated with atrial fibrillation.</strong> Circ. Arrhythm. Electrophysiol. 2: 268-278, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19808477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19808477</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19808477[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/CIRCEP.108.779181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19808477">Watanabe et al. (2009)</a> screened the 4 genes encoding sodium channel beta subunits, SCN1B (<a href="/entry/600235">600235</a>), SCN2B, SCN3B (<a href="/entry/608214">608214</a>), and SCN4B (<a href="/entry/608256">608256</a>), in 480 patients with atrial fibrillation, including 118 patients with lone AF and 362 patients with AF and other cardiovascular disease. They identified 2 unrelated male patients, 1 with AF and hypertension and 1 with lone AF (ATFB14; <a href="/entry/615378">615378</a>), who had heterozygous missense mutations in the SCN2B gene, R28W (<a href="#0001">601327.0001</a>) and R28Q (<a href="#0002">601327.0002</a>), respectively. Sequencing of the SCN5A gene (<a href="/entry/600163">600163</a>) in the 2 men revealed no mutations, and the SCN2B variants were not found in a total of 638 controls. Another 2 patients were found to have mutations in the SCN1B gene (<a href="/entry/600235#0006">600235.0006</a> and <a href="/entry/600235#0007">600235.0007</a>; see ATFB13, <a href="/entry/615377">615377</a>), but no disease-causing mutations were identified in SCN3B or SCN4B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19808477" 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 Brugada Syndrome</em></strong></p><p>
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<p><a href="#2" class="mim-tip-reference" title="Chen, C., Bharucha, V., Chen, Y., Westenbroek, R. E., Brown, A., Malhotra, J. D., Jones, D., Avery, C., Gillespie, P. J., III, Kazen-Gillespie, K. A., Kazarinova-Noyes, K., Shrager, P., Saunders, T. L., Macdonald, R. L., Ransom, B. R., Scheur, T., Catterall, W. A., Isom, L. L. <strong>Reduced sodium channel density, altered voltage, dependence of inactivation, and increased susceptibility to seizures in mice lacking sodium channel beta-2-subunits.</strong> Proc. Nat. Acad. Sci. 99: 17072-17077, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12481039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12481039</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12481039[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.212638099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12481039">Chen et al. (2002)</a> found that brain development in Scn2b-null mice was grossly normal. Knockout mice displayed increased susceptibility to seizures, but they seemed normal in other neurologic tests. Knockout mice had normal fiber number and sodium channel localization in myelinated axons, but there was reduced channel number as measured by the ability of mutant neurons to bind a sodium channel blocker. Electrophysiologically, loss of Scn2b resulted in negative shifts in the voltage dependence of inactivation and significantly decreased sodium current density in dissociated hippocampal neurons. The integral of the compound action potential in optic nerve was reduced, and the threshold for action potential generation was increased, but there was no change in the conduction velocity. <a href="#2" class="mim-tip-reference" title="Chen, C., Bharucha, V., Chen, Y., Westenbroek, R. E., Brown, A., Malhotra, J. D., Jones, D., Avery, C., Gillespie, P. J., III, Kazen-Gillespie, K. A., Kazarinova-Noyes, K., Shrager, P., Saunders, T. L., Macdonald, R. L., Ransom, B. R., Scheur, T., Catterall, W. A., Isom, L. L. <strong>Reduced sodium channel density, altered voltage, dependence of inactivation, and increased susceptibility to seizures in mice lacking sodium channel beta-2-subunits.</strong> Proc. Nat. Acad. Sci. 99: 17072-17077, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12481039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12481039</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12481039[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.212638099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12481039">Chen et al. (2002)</a> concluded that SCN2B-mediated regulation of sodium channel density and function in neurons is required for normal action potential generation and control of excitability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12481039" 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 href="https://www.ncbi.nlm.nih.gov/clinvar?term=601327[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 ATRIAL FIBRILLATION, FAMILIAL, 14</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"><span class="text-primary">●</span> rs17121819 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17121819;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/rs17121819?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=rs17121819" 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=rs17121819" 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=RCV000054539 OR RCV000483016 OR RCV002426610" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054539, RCV000483016, RCV002426610" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054539...</a>
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<p>In a 61-year-old white man with paroxysmal atrial fibrillation (ATFB14; <a href="/entry/615378">615378</a>) and hypertension, <a href="#9" class="mim-tip-reference" title="Watanabe, H., Darbar, D., Kaiser, D. W., Jiramongkolchai, K., Chopra, S., Donahue, B. S., Kannankeril, P. J., Roden, D. M. <strong>Mutations in sodium channel beta-1- and beta-2-subunits associated with atrial fibrillation.</strong> Circ. Arrhythm. Electrophysiol. 2: 268-278, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19808477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19808477</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19808477[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/CIRCEP.108.779181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19808477">Watanabe et al. (2009)</a> identified heterozygosity for a c.82C-T transition in exon 2 of the SCN2B gene, resulting in an arg28-to-trp (R28W) substitution at a highly conserved residue in the extracellular domain. Functional analysis in CHO cells demonstrated a reduction of peak current by 30% at -30 mV with the R28W mutant compared to wildtype. In addition, R28W resulted in a positive shift of voltage dependence of activation compared to wildtype, but did not affect inactivation; there was no difference in persistent sodium current with the mutant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19808477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs72544145 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72544145;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/rs72544145?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=rs72544145" 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=rs72544145" 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=RCV000054540 OR RCV004018968" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054540, RCV004018968" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054540...</a>
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<p>In a 57-year-old white man with paroxysmal lone atrial fibrillation (ATFB14; <a href="/entry/615378">615378</a>), <a href="#9" class="mim-tip-reference" title="Watanabe, H., Darbar, D., Kaiser, D. W., Jiramongkolchai, K., Chopra, S., Donahue, B. S., Kannankeril, P. J., Roden, D. M. <strong>Mutations in sodium channel beta-1- and beta-2-subunits associated with atrial fibrillation.</strong> Circ. Arrhythm. Electrophysiol. 2: 268-278, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19808477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19808477</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19808477[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/CIRCEP.108.779181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19808477">Watanabe et al. (2009)</a> identified heterozygosity for a c.83G-A transition in exon 2 of the SCN2B gene, resulting in an arg28-to-gln (R28Q) substitution at a highly conserved residue in the extracellular domain. Functional analysis in CHO cells demonstrated a reduction of peak current by 36% at -30 mV with the R28Q mutant compared to wildtype. In addition, R28Q resulted in a positive shift of voltage dependence of activation and inactivation compared to wildtype; there was no difference in persistent sodium current with the mutant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19808477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587777023 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777023;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/rs587777023?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=rs587777023" 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=rs587777023" 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=RCV000054543 OR RCV000824359 OR RCV002354244 OR RCV004691740" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054543, RCV000824359, RCV002354244, RCV004691740" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054543...</a>
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<p>This variant is classified as a variant of unknown significance because its contribution to Brugada syndrome (see <a href="/entry/601144">601144</a>) has not been confirmed.</p><p>In a 47-year-old woman with Brugada syndrome, <a href="#8" class="mim-tip-reference" title="Riuro, H., Beltran-Alvarez, P., Tarradas, A., Selga, E., Campuzano, O., Verges, M., Pagans, S., Iglesias, A., Brugada, J., Brugada, P., Vazquez, F. M., Perez, G. J., Scornik, F. S., Brugada, R. <strong>A missense mutation in the sodium channel beta-2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.</strong> Hum. Mutat. 34: 961-966, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23559163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23559163</a>] [<a href="https://doi.org/10.1002/humu.22328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23559163">Riuro et al. (2013)</a> identified heterozygosity for a c.632A-G transition in the SCN2B gene, resulting in an asp211-to-gly (D211G) substitution at a conserved residue within the intracellular C terminus. The proband, who had syncopal episodes from 12 years of age, was diagnosed with Brugada syndrome in her 30s after identification of ST elevation in the right precordial leads on electrocardiogram (ECG). Electrophysiologic study induced polymorphic ventricular tachycardia requiring cardioversion, and a cardioverter defibrillator was implanted. The mutation was also present in her 'presymptomatic' father and sister and in her asymptomatic brother. Her 74-year-old father had a history of palpitations and showed first-degree atrioventricular block but no ST segment elevation on ECG, and her 43-year-old sister had nondiagnostic ST elevation in leads V1 and V2 with incomplete right bundle branch block; her 40-year-old brother did not show any ST segment elevation on ECG. Flecainide testing was not performed in the family. Functional analysis in transfected CHO cells demonstrated a 39.4% reduction in sodium current density with the mutant compared to wildtype. Voltage dependence of activation and steady-state inactivation as well as recovery from inactivation and inactivation time constants were similar for the D211G mutant and wildtype SCN2B. However, biotin pull-down assays revealed lower voltage-gated sodium channel levels on the CHO cell surface with the mutant compared to wildtype. <a href="#8" class="mim-tip-reference" title="Riuro, H., Beltran-Alvarez, P., Tarradas, A., Selga, E., Campuzano, O., Verges, M., Pagans, S., Iglesias, A., Brugada, J., Brugada, P., Vazquez, F. M., Perez, G. J., Scornik, F. S., Brugada, R. <strong>A missense mutation in the sodium channel beta-2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.</strong> Hum. Mutat. 34: 961-966, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23559163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23559163</a>] [<a href="https://doi.org/10.1002/humu.22328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23559163">Riuro et al. (2013)</a> concluded that the D211G mutation induces a reduction in I(Na) density, most likely by decreasing Na(v)1.5 cell surface expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23559163" 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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Bolino, A., Seri, M., Caroli, F., Eubanks, J., Srinivasan, J., Mandich, P., Schenone, A., Quattrone, A., Romeo, G., Catterall, W. A., Devoto, M.
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<strong>Exclusion of the SCN2B gene as candidate for CMT4B.</strong>
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Europ. J. Hum. Genet. 6: 629-634, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887383</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9887383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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|
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[<a href="https://doi.org/10.1038/sj.ejhg.5200220" 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="2" class="mim-anchor"></a>
|
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<a id="Chen2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chen, C., Bharucha, V., Chen, Y., Westenbroek, R. E., Brown, A., Malhotra, J. D., Jones, D., Avery, C., Gillespie, P. J., III, Kazen-Gillespie, K. A., Kazarinova-Noyes, K., Shrager, P., Saunders, T. L., Macdonald, R. L., Ransom, B. R., Scheur, T., Catterall, W. A., Isom, L. L.
|
|
<strong>Reduced sodium channel density, altered voltage, dependence of inactivation, and increased susceptibility to seizures in mice lacking sodium channel beta-2-subunits.</strong>
|
|
Proc. Nat. Acad. Sci. 99: 17072-17077, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12481039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12481039</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12481039[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=12481039" 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.212638099" 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>
|
|
<a id="Eubanks1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Eubanks, J., Srinivasan, J., Dinulos, M. B., Disteche, C. M., Catterall, W. A.
|
|
<strong>Structure and chromosomal localization of the beta2 subunit of the human brain sodium channel.</strong>
|
|
Neuroreport 8: 2775-2779, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9295116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9295116</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9295116" 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/10.1097/00001756-199708180-00025" 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="4" class="mim-anchor"></a>
|
|
<a id="Imai1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Imai, K., Kingsley, D. M.
|
|
<strong>Mouse chromosome 9.</strong>
|
|
Mammalian Genome 5: S139-S153, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719002</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7719002" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</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="5" class="mim-anchor"></a>
|
|
<a id="Isom1995" class="mim-anchor"></a>
|
|
<div class="">
|
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<p class="mim-text-font">
|
|
Isom, L. L., Ragsdale, D. S., De Jongh, K. S., Westenbroek, R. E., Reber, B. F. X., Scheuer, T., Catterall, W. A.
|
|
<strong>Structure and function of the beta-2 subunit of brain sodium channels, a transmembrane glycoprotein with a CAM motif.</strong>
|
|
Cell 83: 433-442, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8521473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8521473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8521473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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|
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[<a href="https://doi.org/10.1016/0092-8674(95)90121-3" 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="6" class="mim-anchor"></a>
|
|
<a id="Jones1996" class="mim-anchor"></a>
|
|
<div class="">
|
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<p class="mim-text-font">
|
|
Jones, J. M., Meisler, M. H., Isom, L. L.
|
|
<strong>Scn2b, a voltage-gated sodium channel beta-2 gene on mouse chromosome 9.</strong>
|
|
Genomics 34: 258-259, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661062</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8661062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1006/geno.1996.0279" 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="7" class="mim-anchor"></a>
|
|
<a id="Kim2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kim, D. Y., Carey, B. W., Wang, H., Ingano, L. A. M., Binshtok, A. M., Wertz, M. H., Pettingell, W. H., He, P., Lee, V. M.-Y., Woolf, C. J., Kovacs, D. M.
|
|
<strong>BACE1 regulates voltage-gated sodium channels and neuronal activity.</strong>
|
|
Nature Cell Biol. 9: 755-764, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17576410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17576410</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17576410[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=17576410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
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|
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[<a href="https://doi.org/10.1038/ncb1602" 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="8" class="mim-anchor"></a>
|
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<a id="Riuro2013" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
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Riuro, H., Beltran-Alvarez, P., Tarradas, A., Selga, E., Campuzano, O., Verges, M., Pagans, S., Iglesias, A., Brugada, J., Brugada, P., Vazquez, F. M., Perez, G. J., Scornik, F. S., Brugada, R.
|
|
<strong>A missense mutation in the sodium channel beta-2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.</strong>
|
|
Hum. Mutat. 34: 961-966, 2013.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23559163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23559163</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23559163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.22328" 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="9" class="mim-anchor"></a>
|
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<a id="Watanabe2009" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
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Watanabe, H., Darbar, D., Kaiser, D. W., Jiramongkolchai, K., Chopra, S., Donahue, B. S., Kannankeril, P. J., Roden, D. M.
|
|
<strong>Mutations in sodium channel beta-1- and beta-2-subunits associated with atrial fibrillation.</strong>
|
|
Circ. Arrhythm. Electrophysiol. 2: 268-278, 2009.
|
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19808477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19808477</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19808477[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=19808477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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|
|
[<a href="https://doi.org/10.1161/CIRCEP.108.779181" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 08/27/2013
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
|
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 8/26/2013<br>Patricia A. Hartz - updated : 6/25/2008<br>Patricia A. Hartz - updated : 9/21/2005<br>Victor A. McKusick - updated : 3/17/1999
|
|
</span>
|
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</div>
|
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</div>
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</div>
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<div>
|
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<a id="creationDate" class="mim-anchor"></a>
|
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<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/26/1996
|
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</span>
|
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</div>
|
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</div>
|
|
</div>
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<div>
|
|
<a id="editHistory" class="mim-anchor"></a>
|
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|
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 09/01/2020
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 08/27/2013<br>carol : 8/27/2013<br>carol : 8/26/2013<br>mgross : 6/25/2008<br>mgross : 9/21/2005<br>kayiaros : 7/8/1999<br>terry : 6/9/1999<br>carol : 4/9/1999<br>carol : 3/31/1999<br>terry : 3/17/1999<br>terry : 7/25/1996<br>terry : 7/24/1996<br>terry : 7/15/1996<br>mark : 6/26/1996<br>terry : 6/26/1996<br>mark : 6/26/1996
|
|
</span>
|
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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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|
|
<div class="container visible-print-block">
|
|
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<div class="row">
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|
|
<div class="col-md-8 col-md-offset-1">
|
|
|
|
<div>
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 601327
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 2; SCN2B
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, BETA SUBUNIT<br />
|
|
SODIUM CHANNEL, NEURONAL TYPE II, BETA SUBUNIT<br />
|
|
SODIUM CHANNEL, VOLTAGE-GATED, BETA-2 SUBUNIT
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: SCN2B</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
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|
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<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 11q23.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 11:118,162,806-118,176,639 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
11q23.3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Atrial fibrillation, familial, 14
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
615378
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</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>The beta-2 subunit of the mammalian brain voltage-gated sodium channel is a 186-residue glycoprotein that contains an extracellular N-terminal domain with similarity to the neural adhesion molecule contactin (600016), as well as a single transmembrane domain (Isom et al., 1995). </p><p>By immunocytochemical analysis of mouse brain sections, Chen et al. (2002) found Scn2b in many regions of the nervous system, including the nodes of Ranvier of sciatic nerve and white matter tracts in the cerebellum, cell bodies of hippocampal and cortical pyramidal neurons, and cerebellar Purkinje neurons. </p><p>In nondiseased human heart tissue, Watanabe et al. (2009) observed expression of SCN2B transcript in both atrium and ventricle, with similar transcript levels in the 2 chambers. </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>Bolino et al. (1998) reported that the SCN2B gene contains 4 exons and spans approximately 12 kb. </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 fluorescence in situ hybridization, Eubanks et al. (1997) mapped the SCN2B gene to 11q23. Bolino et al. (1998) confirmed the assignment of the SCN2B gene to chromosome 11q23. </p><p>Jones et al. (1996) used a rat brain Scn2b cDNA to map the mouse gene in interspecific backcrosses. They found that it is linked to markers from the central region of mouse chromosome 9 and noted that the neurologic mutation 'staggerer' (Imai and Kingsley, 1994) had been mapped there also. No recombination was found with the Il10r gene (146933). Thus, mouse Scn2b is located within a conserved linkage group with orthologs on human chromosome 11q22-qter. </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>The large alpha subunits of mammalian voltage-gated sodium channels (e.g., 182390) can generate a functional channel when expressed alone in Xenopus oocytes, but association with beta-1 (600235) or beta-2 subunits modifies channel function. Jones et al. (1996) stated that the beta-2 subunit is expressed in central neurons only, where covalent association with the alpha subunit is correlated with insertion into the cell membrane. </p><p>Using cell-based assays, Kim et al. (2007) showed that the voltage-gated sodium channel (Nav1) beta-2 subunit was sequentially cleaved by BACE1 (604252), which released the beta-2 C-terminal fragment, and by gamma-secretase (see PSEN1; 104311), which released the beta-2 intracellular domain. Expression of the isolated beta-2 intracellular domain increased the mRNA and protein levels of the Nav1.1 alpha subunit (SCN1A; 182389) in human and rodent neuroblastoma cells. Brains of BACE1-transgenic mice and Alzheimer disease (104300) patients with elevated BACE1 levels exhibited elevated levels of beta-2 C-terminal fragment and Nav1.1 protein. However, in both rodent neuroblastoma cells and adult hippocampal neurons from BACE1-transgenic mice, Nav1.1 accumulated inside the cell rather than at the cell surface, and there was marked reduction in Nav1-mediated sodium current density. Kim et al. (2007) concluded that BACE1 regulates cell surface sodium current densities via beta-2 cleavage and may contribute to neurodegeneration. </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>Familial Atrial Fibrillation 14</em></strong></p><p>
|
|
Watanabe et al. (2009) screened the 4 genes encoding sodium channel beta subunits, SCN1B (600235), SCN2B, SCN3B (608214), and SCN4B (608256), in 480 patients with atrial fibrillation, including 118 patients with lone AF and 362 patients with AF and other cardiovascular disease. They identified 2 unrelated male patients, 1 with AF and hypertension and 1 with lone AF (ATFB14; 615378), who had heterozygous missense mutations in the SCN2B gene, R28W (601327.0001) and R28Q (601327.0002), respectively. Sequencing of the SCN5A gene (600163) in the 2 men revealed no mutations, and the SCN2B variants were not found in a total of 638 controls. Another 2 patients were found to have mutations in the SCN1B gene (600235.0006 and 600235.0007; see ATFB13, 615377), but no disease-causing mutations were identified in SCN3B or SCN4B. </p><p><strong><em>Possible Association with Brugada Syndrome</em></strong></p><p>
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|
See 601327.0003 for discussion of a possible association between variation in the SCN2B gene and Brugada syndrome (see 601144).</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>Animal Model</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>Chen et al. (2002) found that brain development in Scn2b-null mice was grossly normal. Knockout mice displayed increased susceptibility to seizures, but they seemed normal in other neurologic tests. Knockout mice had normal fiber number and sodium channel localization in myelinated axons, but there was reduced channel number as measured by the ability of mutant neurons to bind a sodium channel blocker. Electrophysiologically, loss of Scn2b resulted in negative shifts in the voltage dependence of inactivation and significantly decreased sodium current density in dissociated hippocampal neurons. The integral of the compound action potential in optic nerve was reduced, and the threshold for action potential generation was increased, but there was no change in the conduction velocity. Chen et al. (2002) concluded that SCN2B-mediated regulation of sodium channel density and function in neurons is required for normal action potential generation and control of excitability. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>3 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0001 ATRIAL FIBRILLATION, FAMILIAL, 14</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SCN2B, ARG28TRP
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<br />
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SNP: rs17121819,
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gnomAD: rs17121819,
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ClinVar: RCV000054539, RCV000483016, RCV002426610
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 61-year-old white man with paroxysmal atrial fibrillation (ATFB14; 615378) and hypertension, Watanabe et al. (2009) identified heterozygosity for a c.82C-T transition in exon 2 of the SCN2B gene, resulting in an arg28-to-trp (R28W) substitution at a highly conserved residue in the extracellular domain. Functional analysis in CHO cells demonstrated a reduction of peak current by 30% at -30 mV with the R28W mutant compared to wildtype. In addition, R28W resulted in a positive shift of voltage dependence of activation compared to wildtype, but did not affect inactivation; there was no difference in persistent sodium current with the mutant. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 ATRIAL FIBRILLATION, FAMILIAL, 14</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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|
|
SCN2B, ARG28GLN
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<br />
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|
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SNP: rs72544145,
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|
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gnomAD: rs72544145,
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|
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ClinVar: RCV000054540, RCV004018968
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 57-year-old white man with paroxysmal lone atrial fibrillation (ATFB14; 615378), Watanabe et al. (2009) identified heterozygosity for a c.83G-A transition in exon 2 of the SCN2B gene, resulting in an arg28-to-gln (R28Q) substitution at a highly conserved residue in the extracellular domain. Functional analysis in CHO cells demonstrated a reduction of peak current by 36% at -30 mV with the R28Q mutant compared to wildtype. In addition, R28Q resulted in a positive shift of voltage dependence of activation and inactivation compared to wildtype; there was no difference in persistent sodium current with the mutant. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SCN2B, ASP211GLY
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs587777023,
|
|
|
|
|
|
gnomAD: rs587777023,
|
|
|
|
|
|
ClinVar: RCV000054543, RCV000824359, RCV002354244, RCV004691740
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This variant is classified as a variant of unknown significance because its contribution to Brugada syndrome (see 601144) has not been confirmed.</p><p>In a 47-year-old woman with Brugada syndrome, Riuro et al. (2013) identified heterozygosity for a c.632A-G transition in the SCN2B gene, resulting in an asp211-to-gly (D211G) substitution at a conserved residue within the intracellular C terminus. The proband, who had syncopal episodes from 12 years of age, was diagnosed with Brugada syndrome in her 30s after identification of ST elevation in the right precordial leads on electrocardiogram (ECG). Electrophysiologic study induced polymorphic ventricular tachycardia requiring cardioversion, and a cardioverter defibrillator was implanted. The mutation was also present in her 'presymptomatic' father and sister and in her asymptomatic brother. Her 74-year-old father had a history of palpitations and showed first-degree atrioventricular block but no ST segment elevation on ECG, and her 43-year-old sister had nondiagnostic ST elevation in leads V1 and V2 with incomplete right bundle branch block; her 40-year-old brother did not show any ST segment elevation on ECG. Flecainide testing was not performed in the family. Functional analysis in transfected CHO cells demonstrated a 39.4% reduction in sodium current density with the mutant compared to wildtype. Voltage dependence of activation and steady-state inactivation as well as recovery from inactivation and inactivation time constants were similar for the D211G mutant and wildtype SCN2B. However, biotin pull-down assays revealed lower voltage-gated sodium channel levels on the CHO cell surface with the mutant compared to wildtype. Riuro et al. (2013) concluded that the D211G mutation induces a reduction in I(Na) density, most likely by decreasing Na(v)1.5 cell surface expression. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
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<div>
|
|
<ol>
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Bolino, A., Seri, M., Caroli, F., Eubanks, J., Srinivasan, J., Mandich, P., Schenone, A., Quattrone, A., Romeo, G., Catterall, W. A., Devoto, M.
|
|
<strong>Exclusion of the SCN2B gene as candidate for CMT4B.</strong>
|
|
Europ. J. Hum. Genet. 6: 629-634, 1998.
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|
|
[PubMed: 9887383]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200220]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Chen, C., Bharucha, V., Chen, Y., Westenbroek, R. E., Brown, A., Malhotra, J. D., Jones, D., Avery, C., Gillespie, P. J., III, Kazen-Gillespie, K. A., Kazarinova-Noyes, K., Shrager, P., Saunders, T. L., Macdonald, R. L., Ransom, B. R., Scheur, T., Catterall, W. A., Isom, L. L.
|
|
<strong>Reduced sodium channel density, altered voltage, dependence of inactivation, and increased susceptibility to seizures in mice lacking sodium channel beta-2-subunits.</strong>
|
|
Proc. Nat. Acad. Sci. 99: 17072-17077, 2002.
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|
|
[PubMed: 12481039]
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[Full Text: https://doi.org/10.1073/pnas.212638099]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Eubanks, J., Srinivasan, J., Dinulos, M. B., Disteche, C. M., Catterall, W. A.
|
|
<strong>Structure and chromosomal localization of the beta2 subunit of the human brain sodium channel.</strong>
|
|
Neuroreport 8: 2775-2779, 1997.
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|
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|
|
[PubMed: 9295116]
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[Full Text: https://doi.org/10.1097/00001756-199708180-00025]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Imai, K., Kingsley, D. M.
|
|
<strong>Mouse chromosome 9.</strong>
|
|
Mammalian Genome 5: S139-S153, 1994.
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|
|
[PubMed: 7719002]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Isom, L. L., Ragsdale, D. S., De Jongh, K. S., Westenbroek, R. E., Reber, B. F. X., Scheuer, T., Catterall, W. A.
|
|
<strong>Structure and function of the beta-2 subunit of brain sodium channels, a transmembrane glycoprotein with a CAM motif.</strong>
|
|
Cell 83: 433-442, 1995.
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[PubMed: 8521473]
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[Full Text: https://doi.org/10.1016/0092-8674(95)90121-3]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Jones, J. M., Meisler, M. H., Isom, L. L.
|
|
<strong>Scn2b, a voltage-gated sodium channel beta-2 gene on mouse chromosome 9.</strong>
|
|
Genomics 34: 258-259, 1996.
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|
|
[PubMed: 8661062]
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[Full Text: https://doi.org/10.1006/geno.1996.0279]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kim, D. Y., Carey, B. W., Wang, H., Ingano, L. A. M., Binshtok, A. M., Wertz, M. H., Pettingell, W. H., He, P., Lee, V. M.-Y., Woolf, C. J., Kovacs, D. M.
|
|
<strong>BACE1 regulates voltage-gated sodium channels and neuronal activity.</strong>
|
|
Nature Cell Biol. 9: 755-764, 2007.
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|
|
[PubMed: 17576410]
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[Full Text: https://doi.org/10.1038/ncb1602]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Riuro, H., Beltran-Alvarez, P., Tarradas, A., Selga, E., Campuzano, O., Verges, M., Pagans, S., Iglesias, A., Brugada, J., Brugada, P., Vazquez, F. M., Perez, G. J., Scornik, F. S., Brugada, R.
|
|
<strong>A missense mutation in the sodium channel beta-2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.</strong>
|
|
Hum. Mutat. 34: 961-966, 2013.
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[PubMed: 23559163]
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[Full Text: https://doi.org/10.1002/humu.22328]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Watanabe, H., Darbar, D., Kaiser, D. W., Jiramongkolchai, K., Chopra, S., Donahue, B. S., Kannankeril, P. J., Roden, D. M.
|
|
<strong>Mutations in sodium channel beta-1- and beta-2-subunits associated with atrial fibrillation.</strong>
|
|
Circ. Arrhythm. Electrophysiol. 2: 268-278, 2009.
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|
[PubMed: 19808477]
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[Full Text: https://doi.org/10.1161/CIRCEP.108.779181]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 08/27/2013<br>Marla J. F. O'Neill - updated : 8/26/2013<br>Patricia A. Hartz - updated : 6/25/2008<br>Patricia A. Hartz - updated : 9/21/2005<br>Victor A. McKusick - updated : 3/17/1999
|
|
</span>
|
|
</div>
|
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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 class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/26/1996
|
|
</span>
|
|
</div>
|
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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 class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
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