3444 lines
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Entry
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- *604488 - TITIN-CAP; TCAP
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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">*604488</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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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>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/604488">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>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</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=ENSG00000173991;t=ENST00000309889" 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=8557" 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=604488" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000173991;t=ENST00000309889" 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_003673" 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_003673" 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=604488" 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=05133&isoform_id=05133_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/TCAP" 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/2330601,3024716,3650311,3688392,4507435,15215003,15426456,119580990,119580991,124302206,157783573,161137716,193788367,957950488,957950491" 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/O15273" 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=8557" 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=ENSG00000173991;t=ENST00000309889" 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=TCAP" 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=TCAP" 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+8557" 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/TCAP" 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:8557" 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/8557" 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=chr17&hgg_gene=ENST00000309889.3&hgg_start=39665349&hgg_end=39666554&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:11610" 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=604488[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=604488[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/ENSG00000173991" 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=TCAP" 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=TCAP" 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=TCAP" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/TCAP" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=TCAP&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/PA36370" 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:11610" 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:1330233" 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/TCAP#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:1330233" 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/8557/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=8557" 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-070501-5" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8557" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=TCAP&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 720522001<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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604488
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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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TITIN-CAP; TCAP
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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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TELETHONIN
|
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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=TCAP" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TCAP</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/17/488?start=-3&limit=10&highlight=488">17q12</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:39665349-39666554&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'})">17:39,665,349-39,666,554</a> </span>
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
|
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<div>
|
|
<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>
|
|
Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=607487,601954" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
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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>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
|
</thead>
|
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<tbody>
|
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|
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<tr>
|
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<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/488?start=-3&limit=10&highlight=488">
|
|
17q12
|
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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">
|
|
Cardiomyopathy, hypertrophic, 25
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/607487"> 607487 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Muscular dystrophy, limb-girdle, autosomal recessive 7
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/601954"> 601954 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
|
</tr>
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</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/604488" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/604488" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>TCAP is a sarcomeric protein found exclusively in striated and cardiac muscle, where it localizes to the periphery of Z discs that define the border of the sarcomere and serve as both a structural anchor and a signaling center. TCAP glues 2 parallel titin (TTN; <a href="/entry/188840">188840</a>) within the same sarcomere by directly binding to the N-terminal Z1Z2 domain of titin in a palindromic arrangement, which dramatically increases the mechanical resistance ability of titin (summary by <a href="#9" class="mim-tip-reference" title="Zhang, R., Yang, J., Zhu, J., Xu, X. <strong>Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly.</strong> Hum. Molec. Genet. 18: 4130-4140, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19679566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19679566</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19679566[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp362" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19679566">Zhang et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19679566" 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 PCR of a human skeletal muscle cDNA library, <a href="#8" class="mim-tip-reference" title="Valle, G., Faulkner, G., De Antoni, A., Pacchioni, B., Pallavicini, A., Pandolfo, D., Tiso, N., Toppo, S., Trevisan, S., Lanfranchi, G. <strong>Telethonin, a novel sarcomeric protein of heart and skeletal muscle.</strong> FEBS Lett. 415: 163-168, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9350988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9350988</a>] [<a href="https://doi.org/10.1016/s0014-5793(97)01108-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9350988">Valle et al. (1997)</a> cloned TCAP, which they called telethonin. The deduced 197-amino acid protein has a calculated molecular mass of 19 kD. Northern blot analysis of human tissues detected expression in skeletal and heart muscle only, which was confirmed by RT-PCR analysis. Immunofluorescence analysis of human skeletal muscle showed a banded pattern for TCAP that overlapped with myosin (see <a href="/entry/160730">160730</a>) and alternated with actin (see <a href="/entry/102610">102610</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9350988" 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 TCAP gene contains 2 exons (<a href="#6" class="mim-tip-reference" title="Moreira, E. S., Wiltshire, T. J., Faulkner, G., Nilforoushan, A., Vainzof, M., Suzuki, O. T., Valle, G., Reeves, R., Zatz, M., Passos-Bueno, M. R., Jenne, D. E. <strong>Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.</strong> Nature Genet. 24: 163-166, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655062</a>] [<a href="https://doi.org/10.1038/72822" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655062">Moreira et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655062" 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="#8" class="mim-tip-reference" title="Valle, G., Faulkner, G., De Antoni, A., Pacchioni, B., Pallavicini, A., Pandolfo, D., Tiso, N., Toppo, S., Trevisan, S., Lanfranchi, G. <strong>Telethonin, a novel sarcomeric protein of heart and skeletal muscle.</strong> FEBS Lett. 415: 163-168, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9350988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9350988</a>] [<a href="https://doi.org/10.1016/s0014-5793(97)01108-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9350988">Valle et al. (1997)</a> mapped the TCAP gene to chromosome 17q12, adjacent to the phenylethanolamine N-methyltransferase gene (PNMT; <a href="/entry/171190">171190</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9350988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using x-ray crystallography, <a href="#10" class="mim-tip-reference" title="Zou, P., Pinotsis, N., Lange, S., Song, Y.-H., Popov, A., Mavridis, I., Mayans, O. M., Gautel, M., Wilmanns, M. <strong>Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk.</strong> Nature 439: 229-233, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16407954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16407954</a>] [<a href="https://doi.org/10.1038/nature04343" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16407954">Zou et al. (2006)</a> showed how the amino terminus of the longest filament component in the Z disc of muscle, the giant muscle protein titin, is assembled into an antiparallel (2:1) sandwich complex by the Z disc ligand telethonin. The pseudosymmetric structure of telethonin mediates a unique palindromic arrangement of 2 titin filaments, a type of molecular assembly previously found only in protein-DNA complexes. <a href="#10" class="mim-tip-reference" title="Zou, P., Pinotsis, N., Lange, S., Song, Y.-H., Popov, A., Mavridis, I., Mayans, O. M., Gautel, M., Wilmanns, M. <strong>Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk.</strong> Nature 439: 229-233, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16407954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16407954</a>] [<a href="https://doi.org/10.1038/nature04343" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16407954">Zou et al. (2006)</a> confirmed its unique architecture in vivo by protein complementation assays, and in vitro by experiments using fluorescence resonance energy transfer. <a href="#10" class="mim-tip-reference" title="Zou, P., Pinotsis, N., Lange, S., Song, Y.-H., Popov, A., Mavridis, I., Mayans, O. M., Gautel, M., Wilmanns, M. <strong>Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk.</strong> Nature 439: 229-233, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16407954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16407954</a>] [<a href="https://doi.org/10.1038/nature04343" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16407954">Zou et al. (2006)</a> proposed a model that provides a molecular paradigm of how major sarcomeric filaments are crosslinked, anchored, and aligned within complex cytoskeletal networks. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16407954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Limb-Girdle Muscular Dystrophy, Autosomal Recessive 7</em></strong></p><p>
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In affected members of 3 families segregating limb-girdle muscular dystrophy-7 (LGMD7, previously symbolized LGMD2G; <a href="/entry/601954">601954</a>), <a href="#6" class="mim-tip-reference" title="Moreira, E. S., Wiltshire, T. J., Faulkner, G., Nilforoushan, A., Vainzof, M., Suzuki, O. T., Valle, G., Reeves, R., Zatz, M., Passos-Bueno, M. R., Jenne, D. E. <strong>Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.</strong> Nature Genet. 24: 163-166, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655062</a>] [<a href="https://doi.org/10.1038/72822" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655062">Moreira et al. (2000)</a> identified homozygosity or compound heterozygosity for mutations in the TCAP gene (<a href="#0001">604488.0001</a>; <a href="#0002">604488.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655062" 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>Hypertrophic Cardiomyopathy 25</em></strong></p><p>
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In 2 Japanese probands with hypertrophic cardiomyopathy-25 (CMH25; <a href="/entry/607487">607487</a>), <a href="#2" class="mim-tip-reference" title="Hayashi, T., Arimura, T., Itoh-Satoh, M., Ueda, K., Hohda, S., Inagaki, N., Takahashi, M., Hori, H., Yasunami, M., Nishi, H., Koga, Y., Nakamura, H., and 10 others. <strong>Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.</strong> J. Am. Coll. Cardiol. 44: 2192-2201, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15582318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15582318</a>] [<a href="https://doi.org/10.1016/j.jacc.2004.08.058" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15582318">Hayashi et al. (2004)</a> identified heterozygosity for 2 different missense mutations in the TCAP gene, T137I (<a href="#0004">604488.0004</a>) and R153H (<a href="#0005">604488.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15582318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with CMH who had massive left ventricular hypertrophy, <a href="#1" class="mim-tip-reference" title="Bos, J. M., Poley, R. N., Ny, M., Tester, D. J., Xu, X., Vatta, M., Towbin, J. A., Gersh, B. J., Ommen, S. R., Ackerman, M. J. <strong>Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.</strong> Molec. Genet. Metab. 88: 78-85, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16352453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16352453</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16352453[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2005.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16352453">Bos et al. (2006)</a> identified heterozygosity for a missense mutation in the TCAP gene (R70W; <a href="#0006">604488.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16352453" 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>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the TCAP gene and dilated cardiomyopathy, see <a href="#0003">604488.0003</a>.</p>
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<p><a href="#9" class="mim-tip-reference" title="Zhang, R., Yang, J., Zhu, J., Xu, X. <strong>Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly.</strong> Hum. Molec. Genet. 18: 4130-4140, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19679566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19679566</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19679566[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp362" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19679566">Zhang et al. (2009)</a> cloned tcap in zebrafish and showed that it is functionally conserved. The Tcap protein appeared in the sarcomeric Z disc, and reduction of Tcap resulted in muscular dystrophy-like phenotypes including deformed muscle structure and impaired swimming ability. A defective interaction between the sarcomere and plasma membrane was detected, which was further underscored by the disrupted development of the T-tubule system. Zebrafish tcap exhibited a variable expression pattern during somitogenesis. The variable expression was inducible by stretch force, and the expression level of Tcap was negatively regulated by integrin-link kinase (ILK; <a href="/entry/602366">602366</a>), a protein kinase that is involved in stretch sensing signaling. The authors suggested that the pathogenesis in LGMD2G may be due to a disruption of sarcomere-tubular interaction, but not of sarcomere assembly per se. <a href="#9" class="mim-tip-reference" title="Zhang, R., Yang, J., Zhu, J., Xu, X. <strong>Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly.</strong> Hum. Molec. Genet. 18: 4130-4140, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19679566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19679566</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19679566[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp362" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19679566">Zhang et al. (2009)</a> hypothesized that the transcription level of TCAP may be regulated by the stretch force to ensure proper sarcomere-membrane interaction in striated muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19679566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Markert, C. D., Meaney, M. P., Voelker, K. A., Grange, R. W., Dalley, H. W., Cann, J. K., Ahmed, M., Bishwokarma, B., Walker, S. J., Yu, S. X., Brown, M., Lawlor, M. W., Beggs, A. H., Childers, M. K. <strong>Functional muscle analysis of the Tcap knockout mouse.</strong> Hum. Molec. Genet. 19: 2268-2283, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20233748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20233748</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20233748[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddq105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20233748">Markert et al. (2010)</a> generated knockout mice carrying a null mutation in the Tcap gene and described skeletal muscle function in 4- and 12-month-old affected mice. Muscle histology of Tcap-null mice revealed abnormal myofiber size variation with central nucleation, similar to findings in the muscles of LGMD2G patients. An analysis of a Tcap binding protein, myostatin (MSTN; <a href="/entry/601788">601788</a>), showed that deletion of Tcap was accompanied by increased protein levels of myostatin. The Tcap-null mice exhibited a decline in the ability to maintain balance on a rotating rod, relative to wildtype controls. No differences were detected in force or fatigue assays of isolated extensor digitorum longus or soleus muscles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20233748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Ibrahim, M., Siedlecka, U., Buyandelger, B., Harada, M., Rao, C., Moshkov, A., Bhargava, A., Schneider, M., Yacoub, M. H., Gorelik, J., Knoll, R., Terracciano, C. M. <strong>A critical role for Telethonin in regulating t-tubule structure and function in the mammalian heart.</strong> Hum. Molec. Genet. 22: 372-383, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23100327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23100327</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23100327[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/dds434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23100327">Ibrahim et al. (2013)</a> found that, at 3 months of age, T-tubule density appeared normal in isolated Tcap -/- mouse cardiomyocytes, but that there were isolated T-tubule defects and minor changes in calcium handling. By 8 months of age, Tcap -/- cardiomyocytes showed progressive loss of T-tubules, remodeling of the cell surface, and prolonged and dysynchronous calcium transients. Tcap -/- mice were more sensitive than wildtype to chronic mechanical overload due to thoracic aortic constriction, with increased calcium spark frequency, significantly greater loss of T-tubules, and greater deterioration in T-tubule regularity. <a href="#3" class="mim-tip-reference" title="Ibrahim, M., Siedlecka, U., Buyandelger, B., Harada, M., Rao, C., Moshkov, A., Bhargava, A., Schneider, M., Yacoub, M. H., Gorelik, J., Knoll, R., Terracciano, C. M. <strong>A critical role for Telethonin in regulating t-tubule structure and function in the mammalian heart.</strong> Hum. Molec. Genet. 22: 372-383, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23100327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23100327</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23100327[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/dds434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23100327">Ibrahim et al. (2013)</a> concluded that TCAP is a load-dependent regulator of T-tubule structure and function in the heart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23100327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=604488[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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894655 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894655;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894655" 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=rs104894655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of 2 families with limb-girdle muscular dystrophy type 2G (LGMDR7; <a href="/entry/601954">601954</a>), <a href="#6" class="mim-tip-reference" title="Moreira, E. S., Wiltshire, T. J., Faulkner, G., Nilforoushan, A., Vainzof, M., Suzuki, O. T., Valle, G., Reeves, R., Zatz, M., Passos-Bueno, M. R., Jenne, D. E. <strong>Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.</strong> Nature Genet. 24: 163-166, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655062</a>] [<a href="https://doi.org/10.1038/72822" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655062">Moreira et al. (2000)</a> identified homozygosity for a 157C-T transition in exon 2 of the TCAP gene, resulting in a gln53-to-ter (Q53X) substitution. In affected members of another family with LGMDR7, they identified compound heterozygosity for the Q53X mutation and deletion of 2 guanine nucleotides within 4 guanines at the junction of exon 1 and intron 1 (<a href="#0002">604488.0002</a>) in the TCAP gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655062" 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">rs786205076 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205076;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs786205076" 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=rs786205076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a family with limb-girdle muscular dystrophy type 2G (LGMDR7; <a href="/entry/601954">601954</a>), <a href="#6" class="mim-tip-reference" title="Moreira, E. S., Wiltshire, T. J., Faulkner, G., Nilforoushan, A., Vainzof, M., Suzuki, O. T., Valle, G., Reeves, R., Zatz, M., Passos-Bueno, M. R., Jenne, D. E. <strong>Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.</strong> Nature Genet. 24: 163-166, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655062</a>] [<a href="https://doi.org/10.1038/72822" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655062">Moreira et al. (2000)</a> found that affected members were compound heterozygotes for the Q53X mutation (<a href="#0001">604488.0001</a>) and a deletion of 2 guanine nucleotides within a 4 guanine run (nucleotides 637-640 in the genomic sequence) at the junction of exon 1 and intron 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655062" 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> rs121434298 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434298;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/rs121434298?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=rs121434298" 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=rs121434298" 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=RCV000005863 OR RCV000490830 OR RCV001753405 OR RCV001851684" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005863, RCV000490830, RCV001753405, RCV001851684" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005863...</a>
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<p>This variant, formerly titled CARDIOMYOPATHY, DILATED, 1N (CMD1N; see <a href="/entry/607487">607487</a>), has been reclassified as a variant of unknown significance because its contribution to the phenotype has not been confirmed.</p><p><a href="#4" class="mim-tip-reference" title="Knoll, R., Hoshijima, M., Hoffman, H. M., Person, V., Lorenzen-Schmidt, I., Bang, M.-L., Hayashi, T., Shiga, N., Yasukawa, H., Schaper, W., McKenna, W., Yokoyama, M., and 9 others. <strong>The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.</strong> Cell 111: 943-955, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12507422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12507422</a>] [<a href="https://doi.org/10.1016/s0092-8674(02)01226-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12507422">Knoll et al. (2002)</a> screened the TCAP gene in 380 patients with dilated cardiomyopathy (CMD) and identified an arg87-to-gln (R87Q) substitution in a single patient, a 46-year-old woman with New York Heart Association functional class I heart failure. The mutation was not found in 100 German or 400 Japanese controls. However, no data concerning the patient's family were provided and no functional studies were performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12507422" 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 Y2H assays, <a href="#2" class="mim-tip-reference" title="Hayashi, T., Arimura, T., Itoh-Satoh, M., Ueda, K., Hohda, S., Inagaki, N., Takahashi, M., Hori, H., Yasunami, M., Nishi, H., Koga, Y., Nakamura, H., and 10 others. <strong>Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.</strong> J. Am. Coll. Cardiol. 44: 2192-2201, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15582318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15582318</a>] [<a href="https://doi.org/10.1016/j.jacc.2004.08.058" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15582318">Hayashi et al. (2004)</a> measured beta-galactosidase activity to qualitatively investigate the strength of protein-protein interactions between TCAP and the other Z-disc components, MLP (CSRP3; <a href="/entry/600824">600824</a>), titin (TTN; <a href="/entry/188840">188840</a>), and CS-1 (MYOZ2; <a href="/entry/605602">605602</a>), and observed significantly impaired interactions with the R87Q mutant compared to wildtype TCAP. A similar result was obtained in a GST pull-down competition assay. The authors noted that because both methods were in vitro qualitative assays and recombinant proteins were used, the alterations in interaction caused by the TCAP mutation might be different in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15582318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25</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> rs773317399 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs773317399;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/rs773317399?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=rs773317399" 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=rs773317399" 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=RCV000170301" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000170301" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000170301</a>
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<p>In a Japanese mother and son with hypertrophic cardiomyopathy-25 (CMH25; <a href="/entry/607487">607487</a>), <a href="#2" class="mim-tip-reference" title="Hayashi, T., Arimura, T., Itoh-Satoh, M., Ueda, K., Hohda, S., Inagaki, N., Takahashi, M., Hori, H., Yasunami, M., Nishi, H., Koga, Y., Nakamura, H., and 10 others. <strong>Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.</strong> J. Am. Coll. Cardiol. 44: 2192-2201, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15582318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15582318</a>] [<a href="https://doi.org/10.1016/j.jacc.2004.08.058" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15582318">Hayashi et al. (2004)</a> identified heterozygosity for a C-T transition in the TCAP gene, resulting in a thr137-to-ile (T137I) substitution at a conserved residue. The mutation was not found in 240 Japanese or 70 Korean controls. The mother's father had died suddenly after exercise at 34 years of age. In vitro qualitative functional analysis showed significantly increased interaction with titin (TTN; <a href="/entry/188840">188840</a>) and calsarcin-1 (MYOZ2; <a href="/entry/605602">605602</a>) with the T137I mutant compared to wildtype TCAP; the phosphorylation status of TCAP did not affect the interaction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15582318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25</strong>
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TCAP, ARG153HIS
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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> rs149585781 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs149585781;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/rs149585781?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=rs149585781" 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=rs149585781" 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=RCV000037797 OR RCV000170302 OR RCV000765349 OR RCV000766898 OR RCV001087199 OR RCV002336134" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000037797, RCV000170302, RCV000765349, RCV000766898, RCV001087199, RCV002336134" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000037797...</a>
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<p>In a Japanese sister and brother with hypertrophic cardiomyopathy-25 (CMH25; <a href="/entry/607487">607487</a>), <a href="#2" class="mim-tip-reference" title="Hayashi, T., Arimura, T., Itoh-Satoh, M., Ueda, K., Hohda, S., Inagaki, N., Takahashi, M., Hori, H., Yasunami, M., Nishi, H., Koga, Y., Nakamura, H., and 10 others. <strong>Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.</strong> J. Am. Coll. Cardiol. 44: 2192-2201, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15582318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15582318</a>] [<a href="https://doi.org/10.1016/j.jacc.2004.08.058" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15582318">Hayashi et al. (2004)</a> identified heterozygosity for a G-A transition in the TCAP gene, resulting in an arg153-to-his (R153H) substitution at a conserved residue. The mutation was also detected in the brother's 19- and 21-year-old sons, who did not exhibit CMH at the time of examination, but it was not found in 240 Japanese or 70 Korean controls. The affected sister and brother had 2 sibs who had died suddenly after exercise at age 33 and 44 years. In vitro qualitative functional analysis showed significantly increased interaction with titin (TTN; <a href="/entry/188840">188840</a>) and calsarcin-1 (MYOZ2; <a href="/entry/605602">605602</a>) with the R153H mutant compared to wildtype TCAP; the phosphorylation status of TCAP did not affect the interaction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15582318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25</strong>
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TCAP, ARG70TRP
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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> rs775636212 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs775636212;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/rs775636212?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=rs775636212" 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=rs775636212" 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=RCV000170303 OR RCV000172108 OR RCV000382675 OR RCV000536183 OR RCV002505226 OR RCV003162725" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000170303, RCV000172108, RCV000382675, RCV000536183, RCV002505226, RCV003162725" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000170303...</a>
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<p>In a 65-year-old Caucasian woman who was diagnosed with hypertrophic cardiomyopathy-25 (CMH25; <a href="/entry/607487">607487</a>) at 44 years of age, <a href="#1" class="mim-tip-reference" title="Bos, J. M., Poley, R. N., Ny, M., Tester, D. J., Xu, X., Vatta, M., Towbin, J. A., Gersh, B. J., Ommen, S. R., Ackerman, M. J. <strong>Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.</strong> Molec. Genet. Metab. 88: 78-85, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16352453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16352453</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16352453[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2005.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16352453">Bos et al. (2006)</a> identified heterozygosity for an arg70-to-trp (R70W) substitution in the TCAP gene that was not found in 100 Caucasian or 100 black controls. The patient had massive hypertrophy, with a maximum left ventricular wall thickness of 46 mm. Family history included CMH but not sudden cardiac death. Reporting on this patient, <a href="#7" class="mim-tip-reference" title="Theis, J. L., Bos, J. M., Bartleson, V. B., Will, M. L., Binder, J., Vatta, M., Towbin, J. A., Gersh, B. J., Ommen, S. R., Ackerman, M. J. <strong>Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.</strong> Biochem. Biophys. Res. Commun. 351: 896-902, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17097056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17097056</a>] [<a href="https://doi.org/10.1016/j.bbrc.2006.10.119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17097056">Theis et al. (2006)</a> observed that she exhibited a sigmoid septal shape. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16352453+17097056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Bos2006" class="mim-anchor"></a>
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Bos, J. M., Poley, R. N., Ny, M., Tester, D. J., Xu, X., Vatta, M., Towbin, J. A., Gersh, B. J., Ommen, S. R., Ackerman, M. J.
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<strong>Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.</strong>
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Molec. Genet. Metab. 88: 78-85, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16352453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16352453</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16352453[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=16352453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2005.10.008" target="_blank">Full Text</a>]
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<a id="Hayashi2004" class="mim-anchor"></a>
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Hayashi, T., Arimura, T., Itoh-Satoh, M., Ueda, K., Hohda, S., Inagaki, N., Takahashi, M., Hori, H., Yasunami, M., Nishi, H., Koga, Y., Nakamura, H., and 10 others.
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<strong>Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.</strong>
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J. Am. Coll. Cardiol. 44: 2192-2201, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15582318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15582318</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15582318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.jacc.2004.08.058" target="_blank">Full Text</a>]
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<a id="Ibrahim2013" class="mim-anchor"></a>
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Ibrahim, M., Siedlecka, U., Buyandelger, B., Harada, M., Rao, C., Moshkov, A., Bhargava, A., Schneider, M., Yacoub, M. H., Gorelik, J., Knoll, R., Terracciano, C. M.
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<strong>A critical role for Telethonin in regulating t-tubule structure and function in the mammalian heart.</strong>
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Hum. Molec. Genet. 22: 372-383, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23100327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23100327</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23100327[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=23100327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/dds434" target="_blank">Full Text</a>]
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Knoll, R., Hoshijima, M., Hoffman, H. M., Person, V., Lorenzen-Schmidt, I., Bang, M.-L., Hayashi, T., Shiga, N., Yasukawa, H., Schaper, W., McKenna, W., Yokoyama, M., and 9 others.
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<strong>The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.</strong>
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Cell 111: 943-955, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12507422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12507422</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12507422" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(02)01226-6" target="_blank">Full Text</a>]
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<a id="Markert2010" class="mim-anchor"></a>
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Markert, C. D., Meaney, M. P., Voelker, K. A., Grange, R. W., Dalley, H. W., Cann, J. K., Ahmed, M., Bishwokarma, B., Walker, S. J., Yu, S. X., Brown, M., Lawlor, M. W., Beggs, A. H., Childers, M. K.
|
|
<strong>Functional muscle analysis of the Tcap knockout mouse.</strong>
|
|
Hum. Molec. Genet. 19: 2268-2283, 2010.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20233748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20233748</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20233748[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=20233748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddq105" 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>
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<a id="Moreira2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Moreira, E. S., Wiltshire, T. J., Faulkner, G., Nilforoushan, A., Vainzof, M., Suzuki, O. T., Valle, G., Reeves, R., Zatz, M., Passos-Bueno, M. R., Jenne, D. E.
|
|
<strong>Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.</strong>
|
|
Nature Genet. 24: 163-166, 2000.
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|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655062</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/72822" 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>
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<a id="Theis2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Theis, J. L., Bos, J. M., Bartleson, V. B., Will, M. L., Binder, J., Vatta, M., Towbin, J. A., Gersh, B. J., Ommen, S. R., Ackerman, M. J.
|
|
<strong>Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.</strong>
|
|
Biochem. Biophys. Res. Commun. 351: 896-902, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17097056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17097056</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17097056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.bbrc.2006.10.119" 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="Valle1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Valle, G., Faulkner, G., De Antoni, A., Pacchioni, B., Pallavicini, A., Pandolfo, D., Tiso, N., Toppo, S., Trevisan, S., Lanfranchi, G.
|
|
<strong>Telethonin, a novel sarcomeric protein of heart and skeletal muscle.</strong>
|
|
FEBS Lett. 415: 163-168, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9350988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9350988</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9350988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0014-5793(97)01108-3" 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="9" class="mim-anchor"></a>
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<a id="Zhang2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, R., Yang, J., Zhu, J., Xu, X.
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<strong>Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly.</strong>
|
|
Hum. Molec. Genet. 18: 4130-4140, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19679566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19679566</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19679566[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=19679566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddp362" 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="10" class="mim-anchor"></a>
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<a id="Zou2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zou, P., Pinotsis, N., Lange, S., Song, Y.-H., Popov, A., Mavridis, I., Mayans, O. M., Gautel, M., Wilmanns, M.
|
|
<strong>Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk.</strong>
|
|
Nature 439: 229-233, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16407954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16407954</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16407954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature04343" 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>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 11/11/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 4/21/2015<br>Patricia A. Hartz - updated : 5/23/2014<br>George E. Tiller - updated : 8/20/2013<br>George E. Tiller - updated : 9/30/2010<br>Ada Hamosh - updated : 5/3/2006<br>Stylianos E. Antonarakis - updated : 1/16/2003
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</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">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 2/1/2000
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</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="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/11/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/25/2018<br>mcolton : 05/26/2015<br>carol : 4/21/2015<br>carol : 4/21/2015<br>mgross : 5/23/2014<br>mcolton : 5/23/2014<br>tpirozzi : 8/21/2013<br>tpirozzi : 8/20/2013<br>wwang : 10/15/2010<br>terry : 9/30/2010<br>terry : 7/3/2008<br>alopez : 5/3/2006<br>carol : 4/7/2005<br>mgross : 1/16/2003<br>terry : 10/6/2000<br>mgross : 2/11/2000<br>alopez : 2/1/2000
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</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">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 604488
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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TITIN-CAP; TCAP
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<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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TELETHONIN
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TCAP</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 720522001;
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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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<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: 17q12
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:39,665,349-39,666,554 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<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-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
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<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>
|
|
Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
|
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<span class="mim-font">
|
|
17q12
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Cardiomyopathy, hypertrophic, 25
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
607487
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
3
|
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</span>
|
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
Muscular dystrophy, limb-girdle, autosomal recessive 7
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
601954
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</h4>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>TCAP is a sarcomeric protein found exclusively in striated and cardiac muscle, where it localizes to the periphery of Z discs that define the border of the sarcomere and serve as both a structural anchor and a signaling center. TCAP glues 2 parallel titin (TTN; 188840) within the same sarcomere by directly binding to the N-terminal Z1Z2 domain of titin in a palindromic arrangement, which dramatically increases the mechanical resistance ability of titin (summary by Zhang et al., 2009). </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">
|
|
<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By PCR of a human skeletal muscle cDNA library, Valle et al. (1997) cloned TCAP, which they called telethonin. The deduced 197-amino acid protein has a calculated molecular mass of 19 kD. Northern blot analysis of human tissues detected expression in skeletal and heart muscle only, which was confirmed by RT-PCR analysis. Immunofluorescence analysis of human skeletal muscle showed a banded pattern for TCAP that overlapped with myosin (see 160730) and alternated with actin (see 102610). </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
|
|
|
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|
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<span class="mim-text-font">
|
|
<p>The TCAP gene contains 2 exons (Moreira et al., 2000). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
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<p>Valle et al. (1997) mapped the TCAP gene to chromosome 17q12, adjacent to the phenylethanolamine N-methyltransferase gene (PNMT; 171190). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using x-ray crystallography, Zou et al. (2006) showed how the amino terminus of the longest filament component in the Z disc of muscle, the giant muscle protein titin, is assembled into an antiparallel (2:1) sandwich complex by the Z disc ligand telethonin. The pseudosymmetric structure of telethonin mediates a unique palindromic arrangement of 2 titin filaments, a type of molecular assembly previously found only in protein-DNA complexes. Zou et al. (2006) confirmed its unique architecture in vivo by protein complementation assays, and in vitro by experiments using fluorescence resonance energy transfer. Zou et al. (2006) proposed a model that provides a molecular paradigm of how major sarcomeric filaments are crosslinked, anchored, and aligned within complex cytoskeletal networks. </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>Limb-Girdle Muscular Dystrophy, Autosomal Recessive 7</em></strong></p><p>
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In affected members of 3 families segregating limb-girdle muscular dystrophy-7 (LGMD7, previously symbolized LGMD2G; 601954), Moreira et al. (2000) identified homozygosity or compound heterozygosity for mutations in the TCAP gene (604488.0001; 604488.0002). </p><p><strong><em>Hypertrophic Cardiomyopathy 25</em></strong></p><p>
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In 2 Japanese probands with hypertrophic cardiomyopathy-25 (CMH25; 607487), Hayashi et al. (2004) identified heterozygosity for 2 different missense mutations in the TCAP gene, T137I (604488.0004) and R153H (604488.0005). </p><p>In a patient with CMH who had massive left ventricular hypertrophy, Bos et al. (2006) identified heterozygosity for a missense mutation in the TCAP gene (R70W; 604488.0006). </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the TCAP gene and dilated cardiomyopathy, see 604488.0003.</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>Zhang et al. (2009) cloned tcap in zebrafish and showed that it is functionally conserved. The Tcap protein appeared in the sarcomeric Z disc, and reduction of Tcap resulted in muscular dystrophy-like phenotypes including deformed muscle structure and impaired swimming ability. A defective interaction between the sarcomere and plasma membrane was detected, which was further underscored by the disrupted development of the T-tubule system. Zebrafish tcap exhibited a variable expression pattern during somitogenesis. The variable expression was inducible by stretch force, and the expression level of Tcap was negatively regulated by integrin-link kinase (ILK; 602366), a protein kinase that is involved in stretch sensing signaling. The authors suggested that the pathogenesis in LGMD2G may be due to a disruption of sarcomere-tubular interaction, but not of sarcomere assembly per se. Zhang et al. (2009) hypothesized that the transcription level of TCAP may be regulated by the stretch force to ensure proper sarcomere-membrane interaction in striated muscle. </p><p>Markert et al. (2010) generated knockout mice carrying a null mutation in the Tcap gene and described skeletal muscle function in 4- and 12-month-old affected mice. Muscle histology of Tcap-null mice revealed abnormal myofiber size variation with central nucleation, similar to findings in the muscles of LGMD2G patients. An analysis of a Tcap binding protein, myostatin (MSTN; 601788), showed that deletion of Tcap was accompanied by increased protein levels of myostatin. The Tcap-null mice exhibited a decline in the ability to maintain balance on a rotating rod, relative to wildtype controls. No differences were detected in force or fatigue assays of isolated extensor digitorum longus or soleus muscles. </p><p>Ibrahim et al. (2013) found that, at 3 months of age, T-tubule density appeared normal in isolated Tcap -/- mouse cardiomyocytes, but that there were isolated T-tubule defects and minor changes in calcium handling. By 8 months of age, Tcap -/- cardiomyocytes showed progressive loss of T-tubules, remodeling of the cell surface, and prolonged and dysynchronous calcium transients. Tcap -/- mice were more sensitive than wildtype to chronic mechanical overload due to thoracic aortic constriction, with increased calcium spark frequency, significantly greater loss of T-tubules, and greater deterioration in T-tubule regularity. Ibrahim et al. (2013) concluded that TCAP is a load-dependent regulator of T-tubule structure and function in the heart. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7</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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TCAP, GLN53TER
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<br />
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SNP: rs104894655,
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ClinVar: RCV000005861, RCV000037790, RCV000211741, RCV001380074, RCV002496272
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In affected members of 2 families with limb-girdle muscular dystrophy type 2G (LGMDR7; 601954), Moreira et al. (2000) identified homozygosity for a 157C-T transition in exon 2 of the TCAP gene, resulting in a gln53-to-ter (Q53X) substitution. In affected members of another family with LGMDR7, they identified compound heterozygosity for the Q53X mutation and deletion of 2 guanine nucleotides within 4 guanines at the junction of exon 1 and intron 1 (604488.0002) in the TCAP gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0002 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7</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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TCAP, 2-BP DEL, 637GG
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<br />
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SNP: rs786205076,
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ClinVar: RCV000005862, RCV001851683, RCV002426492, RCV002496273
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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 family with limb-girdle muscular dystrophy type 2G (LGMDR7; 601954), Moreira et al. (2000) found that affected members were compound heterozygotes for the Q53X mutation (604488.0001) and a deletion of 2 guanine nucleotides within a 4 guanine run (nucleotides 637-640 in the genomic sequence) at the junction of exon 1 and intron 1. </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>.0003 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
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TCAP, ARG87GLN
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<br />
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SNP: rs121434298,
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|
|
gnomAD: rs121434298,
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|
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ClinVar: RCV000005863, RCV000490830, RCV001753405, RCV001851684
|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>This variant, formerly titled CARDIOMYOPATHY, DILATED, 1N (CMD1N; see 607487), has been reclassified as a variant of unknown significance because its contribution to the phenotype has not been confirmed.</p><p>Knoll et al. (2002) screened the TCAP gene in 380 patients with dilated cardiomyopathy (CMD) and identified an arg87-to-gln (R87Q) substitution in a single patient, a 46-year-old woman with New York Heart Association functional class I heart failure. The mutation was not found in 100 German or 400 Japanese controls. However, no data concerning the patient's family were provided and no functional studies were performed. </p><p>In Y2H assays, Hayashi et al. (2004) measured beta-galactosidase activity to qualitatively investigate the strength of protein-protein interactions between TCAP and the other Z-disc components, MLP (CSRP3; 600824), titin (TTN; 188840), and CS-1 (MYOZ2; 605602), and observed significantly impaired interactions with the R87Q mutant compared to wildtype TCAP. A similar result was obtained in a GST pull-down competition assay. The authors noted that because both methods were in vitro qualitative assays and recombinant proteins were used, the alterations in interaction caused by the TCAP mutation might be different in vivo. </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>.0004 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
TCAP, THR137ILE
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|
|
<br />
|
|
|
|
SNP: rs773317399,
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|
|
|
|
|
gnomAD: rs773317399,
|
|
|
|
|
|
ClinVar: RCV000170301
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese mother and son with hypertrophic cardiomyopathy-25 (CMH25; 607487), Hayashi et al. (2004) identified heterozygosity for a C-T transition in the TCAP gene, resulting in a thr137-to-ile (T137I) substitution at a conserved residue. The mutation was not found in 240 Japanese or 70 Korean controls. The mother's father had died suddenly after exercise at 34 years of age. In vitro qualitative functional analysis showed significantly increased interaction with titin (TTN; 188840) and calsarcin-1 (MYOZ2; 605602) with the T137I mutant compared to wildtype TCAP; the phosphorylation status of TCAP did not affect the interaction. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
TCAP, ARG153HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs149585781,
|
|
|
|
|
|
gnomAD: rs149585781,
|
|
|
|
|
|
ClinVar: RCV000037797, RCV000170302, RCV000765349, RCV000766898, RCV001087199, RCV002336134
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese sister and brother with hypertrophic cardiomyopathy-25 (CMH25; 607487), Hayashi et al. (2004) identified heterozygosity for a G-A transition in the TCAP gene, resulting in an arg153-to-his (R153H) substitution at a conserved residue. The mutation was also detected in the brother's 19- and 21-year-old sons, who did not exhibit CMH at the time of examination, but it was not found in 240 Japanese or 70 Korean controls. The affected sister and brother had 2 sibs who had died suddenly after exercise at age 33 and 44 years. In vitro qualitative functional analysis showed significantly increased interaction with titin (TTN; 188840) and calsarcin-1 (MYOZ2; 605602) with the R153H mutant compared to wildtype TCAP; the phosphorylation status of TCAP did not affect the interaction. </p>
|
|
</span>
|
|
</div>
|
|
|
|
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|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TCAP, ARG70TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs775636212,
|
|
|
|
|
|
gnomAD: rs775636212,
|
|
|
|
|
|
ClinVar: RCV000170303, RCV000172108, RCV000382675, RCV000536183, RCV002505226, RCV003162725
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 65-year-old Caucasian woman who was diagnosed with hypertrophic cardiomyopathy-25 (CMH25; 607487) at 44 years of age, Bos et al. (2006) identified heterozygosity for an arg70-to-trp (R70W) substitution in the TCAP gene that was not found in 100 Caucasian or 100 black controls. The patient had massive hypertrophy, with a maximum left ventricular wall thickness of 46 mm. Family history included CMH but not sudden cardiac death. Reporting on this patient, Theis et al. (2006) observed that she exhibited a sigmoid septal shape. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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</div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
|
<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Bos, J. M., Poley, R. N., Ny, M., Tester, D. J., Xu, X., Vatta, M., Towbin, J. A., Gersh, B. J., Ommen, S. R., Ackerman, M. J.
|
|
<strong>Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.</strong>
|
|
Molec. Genet. Metab. 88: 78-85, 2006.
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|
[PubMed: 16352453]
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[Full Text: https://doi.org/10.1016/j.ymgme.2005.10.008]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hayashi, T., Arimura, T., Itoh-Satoh, M., Ueda, K., Hohda, S., Inagaki, N., Takahashi, M., Hori, H., Yasunami, M., Nishi, H., Koga, Y., Nakamura, H., and 10 others.
|
|
<strong>Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.</strong>
|
|
J. Am. Coll. Cardiol. 44: 2192-2201, 2004.
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[PubMed: 15582318]
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[Full Text: https://doi.org/10.1016/j.jacc.2004.08.058]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Ibrahim, M., Siedlecka, U., Buyandelger, B., Harada, M., Rao, C., Moshkov, A., Bhargava, A., Schneider, M., Yacoub, M. H., Gorelik, J., Knoll, R., Terracciano, C. M.
|
|
<strong>A critical role for Telethonin in regulating t-tubule structure and function in the mammalian heart.</strong>
|
|
Hum. Molec. Genet. 22: 372-383, 2013.
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[PubMed: 23100327]
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[Full Text: https://doi.org/10.1093/hmg/dds434]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Knoll, R., Hoshijima, M., Hoffman, H. M., Person, V., Lorenzen-Schmidt, I., Bang, M.-L., Hayashi, T., Shiga, N., Yasukawa, H., Schaper, W., McKenna, W., Yokoyama, M., and 9 others.
|
|
<strong>The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.</strong>
|
|
Cell 111: 943-955, 2002.
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|
[PubMed: 12507422]
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[Full Text: https://doi.org/10.1016/s0092-8674(02)01226-6]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Markert, C. D., Meaney, M. P., Voelker, K. A., Grange, R. W., Dalley, H. W., Cann, J. K., Ahmed, M., Bishwokarma, B., Walker, S. J., Yu, S. X., Brown, M., Lawlor, M. W., Beggs, A. H., Childers, M. K.
|
|
<strong>Functional muscle analysis of the Tcap knockout mouse.</strong>
|
|
Hum. Molec. Genet. 19: 2268-2283, 2010.
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[PubMed: 20233748]
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[Full Text: https://doi.org/10.1093/hmg/ddq105]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Moreira, E. S., Wiltshire, T. J., Faulkner, G., Nilforoushan, A., Vainzof, M., Suzuki, O. T., Valle, G., Reeves, R., Zatz, M., Passos-Bueno, M. R., Jenne, D. E.
|
|
<strong>Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.</strong>
|
|
Nature Genet. 24: 163-166, 2000.
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[PubMed: 10655062]
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[Full Text: https://doi.org/10.1038/72822]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Theis, J. L., Bos, J. M., Bartleson, V. B., Will, M. L., Binder, J., Vatta, M., Towbin, J. A., Gersh, B. J., Ommen, S. R., Ackerman, M. J.
|
|
<strong>Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.</strong>
|
|
Biochem. Biophys. Res. Commun. 351: 896-902, 2006.
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[PubMed: 17097056]
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[Full Text: https://doi.org/10.1016/j.bbrc.2006.10.119]
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</p>
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</li>
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<li>
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Valle, G., Faulkner, G., De Antoni, A., Pacchioni, B., Pallavicini, A., Pandolfo, D., Tiso, N., Toppo, S., Trevisan, S., Lanfranchi, G.
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Zhang, R., Yang, J., Zhu, J., Xu, X.
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<strong>Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly.</strong>
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[PubMed: 19679566]
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[Full Text: https://doi.org/10.1093/hmg/ddp362]
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Zou, P., Pinotsis, N., Lange, S., Song, Y.-H., Popov, A., Mavridis, I., Mayans, O. M., Gautel, M., Wilmanns, M.
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<strong>Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk.</strong>
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Nature 439: 229-233, 2006.
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[PubMed: 16407954]
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[Full Text: https://doi.org/10.1038/nature04343]
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