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<title>
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Entry
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- *160710 - MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, ALPHA; MYH6
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- OMIM
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*160710</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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<li role="presentation">
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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="#geneFamily">Gene Family</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="#geneFunction">Gene Function</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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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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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/160710">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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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>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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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=ENSG00000197616;t=ENST00000405093" 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=4624" 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=160710" 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=ENSG00000197616;t=ENST00000405093" 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_002471" 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_002471" 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=160710" 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=01171&isoform_id=01171_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/MYH6" 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/28319,34633,219524,297024,386971,386972,622994,3046549,108752066,119586558,119586559,124376530,156104908,302313131,317373582,1043113186,1043113223,1471157354,1471789419,1471796612,1471800674" 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/P13533" 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=4624" 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=ENSG00000197616;t=ENST00000405093" 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=MYH6" 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=MYH6" 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+4624" 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/MYH6" 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:4624" 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/4624" 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=chr14&hgg_gene=ENST00000405093.9&hgg_start=23381987&hgg_end=23408273&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:7576" 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=160710[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=160710[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/MYH6/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000197616" 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=MYH6" 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=MYH6" 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=MYH6" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MYH6&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/PA31373" 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:7576" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0264695.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:97255" 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/MYH6#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:97255" 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/4624/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002039/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=4624" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00003514;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00003514 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00003515;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00003515 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00006789;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00006789 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00009730;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00009730 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00019064;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00019064 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-031112-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4624" 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=MYH6&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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160710
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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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MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, ALPHA; MYH6
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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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MYH, CARDIAC; MYHC<br />
|
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MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA
|
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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=MYH6" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MYH6</a></em></strong>
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</span>
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</p>
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Cytogenetic location: <a href="/geneMap/14/90?start=-3&limit=10&highlight=90">14q11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:23381987-23408273&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'})">14:23,381,987-23,408,273</a> </span>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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<a href="/clinicalSynopsis/table?mimNumber=614089,614090,613252,613251" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
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View Clinical Synopses
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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<a href="/geneMap/14/90?start=-3&limit=10&highlight=90">
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14q11.2
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</a>
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<span class="mim-font">
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?Atrial septal defect 3
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
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<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
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<span class="mim-font">
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<a href="/entry/614089"> 614089 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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<span class="mim-font">
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{Sick sinus syndrome 3}
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<span class="mim-font">
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<a href="/entry/614090"> 614090 </a>
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<span class="mim-font">
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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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Cardiomyopathy, dilated, 1EE
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<span class="mim-font">
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<a href="/entry/613252"> 613252 </a>
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</span>
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</td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span 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 class="mim-font">
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Cardiomyopathy, hypertrophic, 14
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<span class="mim-font">
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<a href="/entry/613251"> 613251 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span 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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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/160710" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/160710" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Cardiac muscle myosin is one of the major components of the sarcomere, the building block of the contractile system of cardiac muscle (summary by <a href="#8" class="mim-tip-reference" title="Holm, H., Gudbjartsson, D. F., Sulem, P., Masson, G., Helgadottir, H., Zanon, C., Magnusson, O., Helgason, A., Saemundsdottir, J., Gylfason, A., Stefansdottir, H., Gretarsdottir, S., and 18 others. <strong>A rare variant in MYH6 is associated with high risk of sick sinus syndrome.</strong> Nature Genet. 43: 316-320, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21378987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21378987</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21378987[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21378987">Holm et al., 2011</a>). The MYH6 gene encodes the alpha heavy chain subunit of cardiac myosin (alpha-MHC), a fast ATPase primarily expressed in atrial tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21378987" 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>
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<br />
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p><a href="#12" class="mim-tip-reference" title="Kurabayashi, M., Tsuchimochi, H., Komuro, I., Takaku, F., Yazaki, Y. <strong>Molecular cloning and characterization of human cardiac alpha- and beta-form myosin heavy chain complementary DNA clones: regulation of expression during development and pressure overload in human atrium.</strong> J. Clin. Invest. 82: 524-531, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2969919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2969919</a>] [<a href="https://doi.org/10.1172/JCI113627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2969919">Kurabayashi et al. (1988)</a> constructed and characterized 2 types of myosin heavy chain cDNA clones from a fetal human heart cDNA library. Nucleotide and deduced amino acid sequences showed 95.1 and 96.2% homology, respectively. The carboxyl-terminal peptide and 3-prime untranslated regions were highly divergent and specific. They showed that one was transcribed exclusively in the atrium and therefore represented the alpha form of MYHC, whereas the other was predominantly expressed in the ventricle and therefore represented the beta form. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2969919" 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>
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<br />
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<div>
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<a id="geneFamily" class="mim-anchor"></a>
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<h4 href="#mimGeneFamilyFold" id="mimGeneFamilyToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimGeneFamilyToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Gene Family</strong>
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<div id="mimGeneFamilyFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>The level of expression of fetal and adult MYH genes varies throughout the life span of the animal and can be modulated reversibly by physiologic conditions such as mechanical overload and level of circulating hormones. Striking nucleotide sequence homology of the mRNAs of adult cardiac, embryonic and adult skeletal MYH suggests that they arose from a common ancestral gene (<a href="#15" class="mim-tip-reference" title="Mahdavi, V., Periasamy, M., Nadal-Ginard, B. <strong>Molecular characterization of two myosin heavy chain genes expressed in the adult heart.</strong> Nature 297: 659-664, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7045682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7045682</a>] [<a href="https://doi.org/10.1038/297659a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7045682">Mahdavi et al., 1982</a>). (<a href="#15" class="mim-tip-reference" title="Mahdavi, V., Periasamy, M., Nadal-Ginard, B. <strong>Molecular characterization of two myosin heavy chain genes expressed in the adult heart.</strong> Nature 297: 659-664, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7045682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7045682</a>] [<a href="https://doi.org/10.1038/297659a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7045682">Mahdavi et al. (1982)</a> used the abbreviation MHC for myosin heavy chain, but this presents confusion with the major histocompatibility complex.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7045682" 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="#14" class="mim-tip-reference" title="Mahdavi, V., Chambers, A. P., Nadal-Ginard, B. <strong>Cardiac alpha- and beta-myosin heavy chain genes are organized in tandem.</strong> Proc. Nat. Acad. Sci. 81: 2626-2630, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6585819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6585819</a>] [<a href="https://doi.org/10.1073/pnas.81.9.2626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6585819">Mahdavi et al. (1984)</a> found that in the rat the alpha and beta genes are organized in tandem and span 50 kilobases of the chromosome. The beta-MYHC gene (MYH7; <a href="/entry/160760">160760</a>), predominantly expressed in late fetal life, is located 4 kb upstream from the alpha-MYHC gene, predominantly expressed in the adult. The 2 genes are closely related in nucleotide sequence, suggesting that they have arisen by duplication of a common ancestor, yet their expression in the ventricular myocardium is regulated in an antithetic manner by thyroid hormone. The parallel to hemoglobin genes in anatomic positioning in relation to expression in ontogeny is obvious. The embryonic, newborn, and adult skeletal muscle MYHC genes are also, it seems, organized in a head-to-tail fashion in the order of their developmental expression. Unlike the hemoglobin and immunoglobulin examples in which switches are unidirectional--a gene switched off in a terminally differentiated cell cannot be switched on again--the beta-MYHC gene can be switched on again either spontaneously in older animals or experimentally in response to thyroid hormone depletion/replacement or different mechanical stimuli. The alpha-MYHC gene is expressed also in atrial muscle and the beta-MYHC gene in skeletal slow-twitch muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6585819" 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="#1" class="mim-tip-reference" title="Buckingham, M., Alonso, S., Barton, P., Cohen, A., Daubas, P., Garner, I., Robert, B., Weydert, A. <strong>Actin and myosin multigene families: their expression during the formation and maturation of striated muscle.</strong> Am. J. Med. Genet. 25: 623-634, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3789022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3789022</a>] [<a href="https://doi.org/10.1002/ajmg.1320250405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3789022">Buckingham et al. (1986)</a> provided a summary of the actin (see <a href="/entry/102540">102540</a>) and myosin multigene families in mouse and man. In both mouse and man, the cardiac and skeletal actin and myosin genes map to different chromosomes (<a href="#21" class="mim-tip-reference" title="Robert, B., Barton, P., Minty, A., Daubas, P., Weydert, A., Bonhomme, F., Catalan, J., Chazottes, D., Guenet, J. L., Gros, F., Buckingham, M. E. <strong>Investigation of genetic linkage between myosin and actin genes using an interspecific mouse back-cross.</strong> Nature 314: 181-183, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2983233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2983233</a>] [<a href="https://doi.org/10.1038/314181a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2983233">Robert et al., 1985</a>). The only linkage observed is between myosin heavy chain genes expressed sequentially during striated muscle development. Thus, cardiac myosin heavy chain genes map to mouse chromosome 14, whereas the embryonic or early fetal, perinatal and adult myosin heavy chain genes expressed in skeletal muscle are present as a gene cluster on mouse chromosome 11 (<a href="#28" class="mim-tip-reference" title="Weydert, A., Daubas, P., Lazaridis, I., Barton, P., Garner, I., Leader, D. P., Bonhomme, F., Catalan, J., Simon, D., Guenet, J. L., Gros, F., Buckingham, M. E. <strong>Genes for skeletal muscle myosin heavy chains are clustered and are not located on the same mouse chromosome as a cardiac myosin heavy chain gene.</strong> Proc. Nat. Acad. Sci. 82: 7183-7187, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3864153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3864153</a>] [<a href="https://doi.org/10.1073/pnas.82.21.7183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3864153">Weydert et al., 1985</a>). This suggests that cis-acting factors are important in the sequential expression of these genes during development, whereas transacting factors are implicated in the coexpression of genes in different multigene families in a given phenotype. The myosin heavy chains are coded by a multigene family consisting of at least 10 members. The heavy chains for skeletal muscle myosin are coded by chromosome 17. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3864153+2983233+3789022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<a id="geneStructure" class="mim-anchor"></a>
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<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Gene Structure</strong>
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<p><a href="#6" class="mim-tip-reference" title="Geisterfer-Lowrance, A. A. T., Kass, S., Tanigawa, G., Vosberg, H.-P., McKenna, W., Seidman, C. E., Seidman, J. G. <strong>A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.</strong> Cell 62: 999-1006, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975517</a>] [<a href="https://doi.org/10.1016/0092-8674(90)90274-i" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1975517">Geisterfer-Lowrance et al. (1990)</a> diagrammed the exon map of the cardiac MYHC genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1975517" 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="mim-changed mim-change"><p><a href="#5" class="mim-tip-reference" title="Epp, T. A., Dixon, I. M. C., Wang, H.-Y., Sole, M. J., Liew, C.-C. <strong>Structural organization of the human cardiac alpha-myosin heavy chain gene (MYH6).</strong> Genomics 18: 505-509, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8307559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8307559</a>] [<a href="https://doi.org/10.1016/s0888-7543(11)80006-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8307559">Epp et al. (1993)</a> reported the complete nucleotide sequence of the human MYH6 gene, encompassing 26,159 bp as well as the entire 4,484-bp 5-prime flanking intergenic region. The MYH6 gene has 39 exons, 37 of which contain coding information. The 5-prime untranslated region is split into 3 exons, with the third exon containing the AUG translation initiation codon. With the exception of intron 13 of the cardiac beta-myosin heavy chain gene (MYH7), which is not present within the alpha-isogene, all exon/intron boundaries are conserved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8307559" 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></div>
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<p><a href="#27" class="mim-tip-reference" title="van Rooij, E., Sutherland, L. B., Qi, X., Richardson, J. A., Hill, J., Olson, E. N. <strong>Control of stress-dependent cardiac growth and gene expression by a microRNA.</strong> Science 316: 575-579, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17379774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17379774</a>] [<a href="https://doi.org/10.1126/science.1139089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17379774">Van Rooij et al. (2007)</a> found that microRNA-208 (MIRN208; <a href="/entry/611116">611116</a>), a cardiac-specific microRNA encoded by intron 27 of the MYH6 gene, is required for cardiomyocyte hypertrophy, fibrosis, and expression of MYH7 in response to stress and hypothyroidism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17379774" 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 mice, adult cardiomyocytes primarily express alpha-myosin heavy chain (alpha-MHC, also known as Myh6), whereas embryonic cardiomyocytes express beta-MHC (also known as Myh7, <a href="/entry/160760">160760</a>). Cardiac stress triggers adult hearts to undergo hypertrophy and a shift from alpha-MHC to fetal beta-MHC expression. <a href="#7" class="mim-tip-reference" title="Hang, C. T., Yang, J., Han, P., Cheng, H.-L., Shang, C., Ashley, E., Zhou, B., Chang, C.-P. <strong>Chromatin regulation by Brg1 underlies heart muscle development and disease.</strong> Nature 466: 62-67, 2010. Note: Erratum: Nature 475: 532 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20596014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20596014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20596014[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20596014">Hang et al. (2010)</a> showed that BRG1 (<a href="/entry/603254">603254</a>), a chromatin-remodeling protein, has a critical role in regulating cardiac growth, differentiation, and gene expression. In embryos, Brg1 promotes myocyte proliferation by maintaining Bmp10 (<a href="/entry/608748">608748</a>) and suppressing p57(kip2) (<a href="/entry/600856">600856</a>) expression. It preserves fetal cardiac differentiation by interacting with histone deacetylases (HDACs; see <a href="/entry/601241">601241</a>) and poly(ADP ribose) polymerase (PARP; <a href="/entry/173870">173870</a>) to repress alpha-MHC and activate beta-MHC. In adults, Brg1 (also known as Smarca4) is turned off in cardiomyocytes. It is reactivated by cardiac stresses and forms a complex with its embryonic partners, HDAC and PARP, to induce a pathologic alpha-MHC-to-beta-MHC shift. Preventing Brg1 reexpression decreases hypertrophy and reverses this MHC switch. BRG1 is activated in certain patients with hypertrophic cardiomyopathy, its level correlating with disease severity and MHC changes. <a href="#7" class="mim-tip-reference" title="Hang, C. T., Yang, J., Han, P., Cheng, H.-L., Shang, C., Ashley, E., Zhou, B., Chang, C.-P. <strong>Chromatin regulation by Brg1 underlies heart muscle development and disease.</strong> Nature 466: 62-67, 2010. Note: Erratum: Nature 475: 532 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20596014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20596014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20596014[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20596014">Hang et al. (2010)</a> concluded that their studies showed that BRG1 maintains cardiomyocytes in an embryonic state, and demonstrated an epigenetic mechanism by which 3 classes of chromatin-modifying factors, BRG1, HDAC, and PARP, cooperate to control developmental and pathologic gene expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20596014" 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="#22" class="mim-tip-reference" title="Saez, L. J., Gianola, K. M., McNally, E. M., Feghali, R., Eddy, R., Shows, T. B., Leinwand, L. A. <strong>Human cardiac myosin heavy chain genes and their linkage in the genome.</strong> Nucleic Acids Res. 15: 5443-5459, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3037493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3037493</a>] [<a href="https://doi.org/10.1093/nar/15.13.5443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3037493">Saez et al. (1987)</a> used a gene-specific oligonucleotide to isolate the beta-myosin heavy chain gene (which is expressed in both cardiac and skeletal muscle) and showed that it is located 3.6 kb upstream of the alpha cardiac myosin gene. By studies in somatic cell hybrids, they showed, furthermore, that the beta and alpha cardiac myosin heavy chain genes are located on chromosome 14. No suggestion of hybridization with human chromosome 17 was detected, contrary to earlier findings (<a href="#20" class="mim-tip-reference" title="Rappold, G. A., Vosberg, H.-P. <strong>Chromosomal localization of a human myosin heavy-chain gene by in situ hybridization.</strong> Hum. Genet. 65: 195-197, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6654334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6654334</a>] [<a href="https://doi.org/10.1007/BF00286663" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6654334">Rappold and Vosberg, 1983</a>). Thus, just as the human skeletal and cardiac alpha-actin genes are located on separate chromosomes (15 and 1, respectively), the myosin genes are on separate chromosomes. As with the beta-myosin heavy chain genes, the cardiac actin gene is coexpressed in adult skeletal muscle. <a href="#16" class="mim-tip-reference" title="Matsuoka, R., Chambers, A., Kimura, M., Kanda, N., Bruns, G., Yoshida, M., Takao, A. <strong>Molecular cloning and chromosomal localization of a gene coding for human cardiac myosin heavy-chain.</strong> Am. J. Med. Genet. 29: 369-376, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3354609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3354609</a>] [<a href="https://doi.org/10.1002/ajmg.1320290217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3354609">Matsuoka et al. (1988)</a> showed that the MYHCA locus is on chromosome 14 by Southern analysis of human genomic DNA from human-Chinese hamster and human-mouse somatic cell hybrids. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6654334+3037493+3354609" 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="#17" class="mim-tip-reference" title="Matsuoka, R., Yoshida, M. C., Kanda, N., Kimura, M., Ozasa, H., Takao, A. <strong>Human cardiac myosin heavy chain gene mapped within chromosome region 14q11.2-q13.</strong> Am. J. Med. Genet. 32: 279-284, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2494889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2494889</a>] [<a href="https://doi.org/10.1002/ajmg.1320320234" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2494889">Matsuoka et al. (1989)</a> regionalized the assignments of MYH6 and MYH7 to 14q11.2-q13 by hybridization of probes to DNA from cell lines with deletions or duplications in chromosome 14 and by in situ hybridization. In the mouse, cardiac and skeletal myosin heavy chain genes are syntenic; this is not the case in man. The latter genes are located on human chromosome 17. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2494889" 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="#29" class="mim-tip-reference" title="Yamauchi-Takihara, K., Sole, M. J., Liew, J., Ing, D., Liew, C. C. <strong>Characterization of human cardiac myosin heavy chain genes.</strong> Proc. Nat. Acad. Sci. 86: 3504-3508, 1989. Note: Erratum: Proc. Nat. Acad. Sci. 86: 7416-7417, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2726733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2726733</a>] [<a href="https://doi.org/10.1073/pnas.86.10.3504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2726733">Yamauchi-Takihara et al. (1989)</a> showed that the MYHCA and MYHCB genes are tandemly linked in a total length of 51 kb. The MYHCB gene, which is predominantly expressed in ventricle and in slow-twitch skeletal muscle, is located 4.5 kb upstream from the MYHCA gene, which is predominantly expressed in human atrium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2726733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Geisterfer-Lowrance, A. A. T., Kass, S., Tanigawa, G., Vosberg, H.-P., McKenna, W., Seidman, C. E., Seidman, J. G. <strong>A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.</strong> Cell 62: 999-1006, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975517</a>] [<a href="https://doi.org/10.1016/0092-8674(90)90274-i" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1975517">Geisterfer-Lowrance et al. (1990)</a> diagrammed the head-to-tail orientation of the alpha and beta cardiac myosin heavy chain genes showing the beta gene located 5-prime to the alpha gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1975517" 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="#18" class="mim-tip-reference" title="Nadal-Ginard, B., Mahdavi, V. <strong>Molecular basis of cardiac performance: plasticity of the myocardium generated through protein isoform switches.</strong> J. Clin. Invest. 84: 1693-1700, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2687327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2687327</a>] [<a href="https://doi.org/10.1172/JCI114351" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2687327">Nadal-Ginard and Mahdavi (1989)</a> reviewed the molecular biology of the cardiac contractile apparatus and emphasized the plasticity in terms of isoform switches in response to physiologic and pathologic stimuli. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2687327" 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>Familial Hypertrophic Cardiomyopathy 14</em></strong></p><p>
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In a 75-year-old woman with late-onset hypertrophic cardiomyopathy (CMH14; <a href="/entry/613251">613251</a>), <a href="#19" class="mim-tip-reference" title="Niimura, H., Patton, K. K., McKenna, W. J., Soults, J., Maron, B. J., Seidman, J. G., Seidman, C. E. <strong>Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.</strong> Circulation 105: 446-451, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11815426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11815426</a>] [<a href="https://doi.org/10.1161/hc0402.102990" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11815426">Niimura et al. (2002)</a> identified a heterozygous mutation in the MYH6 gene (R795Q; <a href="#0002">160710.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11815426" 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="#2" class="mim-tip-reference" title="Carniel, E., Taylor, M. R. G., Sinagra, G., Di Lenarda, A., Ku, L., Fain, P. R., Boucek, M. M., Cavanaugh, J., Miocic, S., Slavov, D., Graw, S. L., Feiger, J., Zhu, X. Z., Dao, D., Ferguson, D. A., Bristow, M. R., Mestroni, L. <strong>Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.</strong> Circulation 112: 54-59, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15998695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15998695</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.104.507699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15998695">Carniel et al. (2005)</a> analyzed the MYH6 gene in 21 families with hypertrophic cardiomyopathy (CMH) and identified heterozygous missense mutations in 1 CMH14 proband (<a href="#0004">160710.0004</a>). The mutation was located at a highly conserved residue in the rod domain and was predicted to change the structure of MYHCA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15998695" 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>Dilated Cardiomyopathy 1EE</em></strong></p><p>
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<a href="#2" class="mim-tip-reference" title="Carniel, E., Taylor, M. R. G., Sinagra, G., Di Lenarda, A., Ku, L., Fain, P. R., Boucek, M. M., Cavanaugh, J., Miocic, S., Slavov, D., Graw, S. L., Feiger, J., Zhu, X. Z., Dao, D., Ferguson, D. A., Bristow, M. R., Mestroni, L. <strong>Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.</strong> Circulation 112: 54-59, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15998695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15998695</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.104.507699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15998695">Carniel et al. (2005)</a> analyzed the MYH6 gene in 69 families with dilated cardiomyopathy (CMD) and identified heterozygosity for 3 different missense mutations in 3 CMD1EE (<a href="/entry/613252">613252</a>) probands (<a href="#0005">160710.0005</a>-<a href="#0007">160710.0007</a>). All of the mutations were located at highly conserved residues, were predicted to change the structure or chemical bonds of MYHCA, and were absent in at least 300 control chromosomes from an ethnically similar population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15998695" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Atrial Septal Defect 3</em></strong></p><p>
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In all affected members of a 4-generation family with atrial septal defect (ASD3; <a href="/entry/614089">614089</a>), <a href="#3" class="mim-tip-reference" title="Ching, Y.-H., Ghosh, T. K., Cross, S. J., Packham, E. A., Honeyman, L., Loughna, S., Robinson, T. E., Dearlove, A. M., Ribas, G., Bonser, A. J., Thomas, N. R., Scotter, A. J., Caves, L. S. D., Tyrrell, G. P., Newbury-Ecob, R. A., Munnich, A., Bonnet, D., Brook, J. D. <strong>Mutation in myosin heavy chain 6 causes atrial septal defect.</strong> Nature Genet. 37: 423-428, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15735645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15735645</a>] [<a href="https://doi.org/10.1038/ng1526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15735645">Ching et al. (2005)</a> found heterozygosity for an ile820-to-asn mutation (I820N; <a href="#0003">160710.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15735645" 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>Sick Sinus Syndrome Susceptibility</em></strong></p><p>
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Through complementary application of SNP genotyping, whole genome sequencing, and imputation in 38,384 Icelanders, <a href="#8" class="mim-tip-reference" title="Holm, H., Gudbjartsson, D. F., Sulem, P., Masson, G., Helgadottir, H., Zanon, C., Magnusson, O., Helgason, A., Saemundsdottir, J., Gylfason, A., Stefansdottir, H., Gretarsdottir, S., and 18 others. <strong>A rare variant in MYH6 is associated with high risk of sick sinus syndrome.</strong> Nature Genet. 43: 316-320, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21378987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21378987</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21378987[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21378987">Holm et al. (2011)</a> identified MYH6 as a susceptibility gene for sick sinus syndrome (SSS3; <a href="/entry/614090">614090</a>). A missense variant in this gene (<a href="#0008">160710.0008</a>), arg721 to trp, has an allelic frequency of 0.38% in Icelanders and associates with sick sinus syndrome with an odds ratio of 12.53 and P = 1.5 x 10(-29). <a href="#8" class="mim-tip-reference" title="Holm, H., Gudbjartsson, D. F., Sulem, P., Masson, G., Helgadottir, H., Zanon, C., Magnusson, O., Helgason, A., Saemundsdottir, J., Gylfason, A., Stefansdottir, H., Gretarsdottir, S., and 18 others. <strong>A rare variant in MYH6 is associated with high risk of sick sinus syndrome.</strong> Nature Genet. 43: 316-320, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21378987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21378987</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21378987[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21378987">Holm et al. (2011)</a> showed that the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for noncarriers of this variant but is approximately 50% for carriers of the variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21378987" 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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In a cohort of 2,871 probands with congenital heart disease, comprising 2,645 parent-offspring trios and 226 singletons, <a href="#11" class="mim-tip-reference" title="Jin, S. C., Homsy, J., Zaidi, S., Lu, Q., Morton, S., DePalma, S. R., Zeng, X., Qi, H., Chang, W., Sierant, M. C., Hung, W.-C., Haider, S., and 33 others. <strong>Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.</strong> Nature Genet. 49: 1593-1601, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28991257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28991257</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28991257[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.3970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28991257">Jin et al. (2017)</a> performed whole-exome sequencing and identified 7 probands with compound heterozygosity or homozygosity for missense, frameshift, splice site, and/or nonsense mutations in the MYH6 gene. Cardiac phenotypes included 4 patients with left ventricular outflow tract obstruction who manifested 'Shone complex' (mitral and aortic valve obstruction with aortic arch obstruction), 1 patient with conotruncal defects and transposition of the great arteries, 1 patient with atrioventricular canal defects, and 1 patient with multiple atrial septal defects with a membranous ventricular septal defect. Other features reported in these patients included learning disabilities in 2, 1 of whom was also reported to have hypothyroidism; the presence or absence of neurodevelopmental disorders was reported as 'unknown' in 3 patients because they were less than 1 year of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28991257" 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 human hypertrophic cardiomyopathy-causing mutation MYH7 R403Q (<a href="/entry/160760#0001">160760.0001</a>) causes particularly severe disease characterized by early-onset and progressive myocardial dysfunction, with a high incidence of cardiac sudden death. MHC(403/+) mice express an R403Q mutation in Myh6 under the control of the endogenous Myh locus. <a href="#10" class="mim-tip-reference" title="Jiang, J., Wakimoto, H., Seidman, J. G., Seidman, C. E. <strong>Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy.</strong> Science 342: 111-114, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24092743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24092743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24092743[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/10.1126/science.1236921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24092743">Jiang et al. (2013)</a> found that expression of the Myh6 R403Q mutation in mice can be selectively silenced by an RNA interference (RNAi) cassette delivered by an adeno-associated virus vector. RNAi-transduced MHC(403/+) mice developed neither hypertrophy nor myocardial fibrosis, the pathologic manifestations of hypertrophic cardiomyopathy, for at least 6 months. Because inhibition of hypertrophic cardiomyopathy was achieved by only a 25% reduction in the levels of mutant transcripts, <a href="#10" class="mim-tip-reference" title="Jiang, J., Wakimoto, H., Seidman, J. G., Seidman, C. E. <strong>Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy.</strong> Science 342: 111-114, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24092743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24092743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24092743[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/10.1126/science.1236921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24092743">Jiang et al. (2013)</a> suggested that the variable clinical phenotype in hypertrophic cardiomyopathy patients reflects allele-specific expression and that partial silencing of mutant transcripts may have therapeutic benefit. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24092743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a large 4-generation family segregating autosomal dominant familial hypertrophic cardiomyopathy (see CMH1, <a href="/entry/192600">192600</a>) with linkage to markers in the region of the cardiac MYHC genes, <a href="#24" class="mim-tip-reference" title="Solomon, S. D., Geisterfer-Lowrance, A. A. T., Vosberg, H.-P., Hiller, G., Jarcho, J. A., Morton, C. C., McBride, W. O., Mitchell, A. L., Bale, A. E., McKenna, W. J., Seidman, J. G., Seidman, C. E. <strong>A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12.</strong> Am. J. Hum. Genet. 47: 389-394, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975475</a>]" pmid="1975475">Solomon et al. (1990)</a> identified a novel restriction fragment in the cardiac MYHC genes of all affected members. <a href="#25" class="mim-tip-reference" title="Tanigawa, G., Jarcho, J. A., Kass, S., Solomon, S. D., Vosberg, H.-P., Seidman, J. G., Seidman, C. E. <strong>A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene.</strong> Cell 62: 991-998, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2144212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2144212</a>] [<a href="https://doi.org/10.1016/0092-8674(90)90273-h" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2144212">Tanigawa et al. (1990)</a> demonstrated that this novel fragment resulted from a Lepore-like alpha/beta cardiac MYHC hybrid gene. Since the mutation affected polypeptides critical to myofibril structure, the mutation was considered to be responsible for the disorder. They suggested that nonhomologous pairing of the alpha and beta cardiac myosin heavy chain genes and an unequal crossover event in or near exon 27 resulted in a hybrid gene as well as complete alpha and beta genes on the same chromosome. Thus the change is more comparable to hemoglobin P(Congo), in which a hybrid beta/delta gene is flanked by complete delta and beta hemoglobin genes (see <a href="/entry/141900#0214">141900.0214</a>), than to hemoglobin Lepore, which produces a delta/beta hemoglobin hybrid gene with deletion of both the delta and beta genes. <a href="#23" class="mim-tip-reference" title="Seidman, C. E. <strong>Personal Communication.</strong> Boston, Mass. 3/4/1992."None>Seidman (1992)</a> later found that in fact this family had a missense mutation in exon 14 of the MYH7 gene (<a href="/entry/160760">160760</a>) which was probably the cause of the cardiomyopathy because all other affected families have had missense mutations and the family reported by <a href="#26" class="mim-tip-reference" title="Teare, D. <strong>Asymmetrical hypertrophy of the heart in young adults.</strong> Brit. Heart J. 20: 1-8, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13499764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13499764</a>] [<a href="https://doi.org/10.1136/hrt.20.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13499764">Teare (1958)</a> had the same missense mutation but lacked the fusion gene. The fusion gene has the promoter of the alpha (MYH6) gene and might not be expected to be expressed in the ventricle. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2144212+1975475+13499764" 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> rs267606907 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606907;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/rs267606907?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=rs267606907" 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=rs267606907" 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=RCV000015210 OR RCV002453263 OR RCV002504791 OR RCV003125831" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015210, RCV002453263, RCV002504791, RCV003125831" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015210...</a>
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<p>In a 75-year-old woman with late-onset hypertrophic cardiomyopathy (CMH14; <a href="/entry/613251">613251</a>), <a href="#19" class="mim-tip-reference" title="Niimura, H., Patton, K. K., McKenna, W. J., Soults, J., Maron, B. J., Seidman, J. G., Seidman, C. E. <strong>Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.</strong> Circulation 105: 446-451, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11815426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11815426</a>] [<a href="https://doi.org/10.1161/hc0402.102990" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11815426">Niimura et al. (2002)</a> identified a heterozygous 2384G-A transition in exon 20 of the MYH6 gene, predicted to result in an arg795-to-glu (R795Q) substitution at a conserved residue within a conserved protein-binding motif through which the myosin heavy chain interacts with essential light chains. <a href="#19" class="mim-tip-reference" title="Niimura, H., Patton, K. K., McKenna, W. J., Soults, J., Maron, B. J., Seidman, J. G., Seidman, C. E. <strong>Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.</strong> Circulation 105: 446-451, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11815426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11815426</a>] [<a href="https://doi.org/10.1161/hc0402.102990" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11815426">Niimura et al. (2002)</a> suggested that substitution of a hydrophilic glutamine residue at this site could exert its effect by interfering with light chain interaction. The mutation was not found in more than 170 unrelated controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11815426" 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">rs267606903 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606903;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=rs267606903" 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=rs267606903" 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=RCV000015211" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015211" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015211</a>
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<p>In all affected members, all obligate carriers, and in 1 other individual from a large family with dominantly inherited atrial septal defect (ASD3; <a href="/entry/614089">614089</a>) and no other cardiac abnormalities, <a href="#3" class="mim-tip-reference" title="Ching, Y.-H., Ghosh, T. K., Cross, S. J., Packham, E. A., Honeyman, L., Loughna, S., Robinson, T. E., Dearlove, A. M., Ribas, G., Bonser, A. J., Thomas, N. R., Scotter, A. J., Caves, L. S. D., Tyrrell, G. P., Newbury-Ecob, R. A., Munnich, A., Bonnet, D., Brook, J. D. <strong>Mutation in myosin heavy chain 6 causes atrial septal defect.</strong> Nature Genet. 37: 423-428, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15735645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15735645</a>] [<a href="https://doi.org/10.1038/ng1526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15735645">Ching et al. (2005)</a> identified a 1849T-A transversion in exon 21 of the MYH6 gene, resulting in an ile820-to-asn (I820N) substitution in the neck region of the protein. This substitution places a polar side chain into an apolar environment, which suggests that the mutant complex is destabilized relative to the wildtype complex. Amino acid 820 was found to be conserved in type II myosins across all species examined; a hydrophilic amino acid at the site corresponding to the mutant residue had not previously been identified. The mutation was not identified in unaffected family members or in 200 chromosomes screened from healthy unrelated individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15735645" 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> rs267606904 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606904;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/rs267606904?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=rs267606904" 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=rs267606904" 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=RCV000015212 OR RCV000037469 OR RCV000171836 OR RCV000414926 OR RCV000845359 OR RCV002321482" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015212, RCV000037469, RCV000171836, RCV000414926, RCV000845359, RCV002321482" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015212...</a>
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<p>In a Caucasian proband with hypertrophic cardiomyopathy (CMH14; <a href="/entry/613251">613251</a>), who was diagnosed at 27 years of age and died from congestive heart failure at 45 years of age, <a href="#2" class="mim-tip-reference" title="Carniel, E., Taylor, M. R. G., Sinagra, G., Di Lenarda, A., Ku, L., Fain, P. R., Boucek, M. M., Cavanaugh, J., Miocic, S., Slavov, D., Graw, S. L., Feiger, J., Zhu, X. Z., Dao, D., Ferguson, D. A., Bristow, M. R., Mestroni, L. <strong>Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.</strong> Circulation 112: 54-59, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15998695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15998695</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.104.507699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15998695">Carniel et al. (2005)</a> identified a heterozygous 3195G-C transversion in exon 24 of the MYH6 gene, resulting in a gln1065-to-his (Q1065H) substitution at a highly conserved residue of the rod domain. The mutation was not found in 2 unaffected offspring or 150 ethnically similar controls. Family history was significant for sudden death at age 47 years of the proband's affected mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15998695" 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, DILATED, 1EE</strong>
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MYH6, PRO830LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606906 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606906;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=rs267606906" 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=rs267606906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015213" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015213" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015213</a>
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<p>In a 75-year-old Caucasian proband with dilated cardiomyopathy (CMD1EE; <a href="/entry/613252">613252</a>), <a href="#2" class="mim-tip-reference" title="Carniel, E., Taylor, M. R. G., Sinagra, G., Di Lenarda, A., Ku, L., Fain, P. R., Boucek, M. M., Cavanaugh, J., Miocic, S., Slavov, D., Graw, S. L., Feiger, J., Zhu, X. Z., Dao, D., Ferguson, D. A., Bristow, M. R., Mestroni, L. <strong>Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.</strong> Circulation 112: 54-59, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15998695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15998695</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.104.507699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15998695">Carniel et al. (2005)</a> identified a heterozygous 2489C-T transition in exon 21 of the MYH6 gene, resulting in a pro830-to-leu (P830L) substitution at a highly conserved residue in the globular head of MYHCA, predicted to alter the secondary structure of the light-chain binding domain. The patient was diagnosed at 56 years of age, and had developed congestive heart failure by 75 years of age. The mutation was not found in 150 ethnically similar controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15998695" 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, DILATED, 1EE</strong>
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MYH6, ALA1004SER
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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> rs143978652 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs143978652;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/rs143978652?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=rs143978652" 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=rs143978652" 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=RCV000015214 OR RCV000037468 OR RCV000172563 OR RCV000201499 OR RCV000244450 OR RCV000623034 OR RCV000656144 OR RCV000723680 OR RCV000770446 OR RCV000852696 OR RCV004765306" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015214, RCV000037468, RCV000172563, RCV000201499, RCV000244450, RCV000623034, RCV000656144, RCV000723680, RCV000770446, RCV000852696, RCV004765306" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015214...</a>
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<p>In a 59-year-old Caucasian proband with dilated cardiomyopathy (CMD1EE; <a href="/entry/613252">613252</a>), <a href="#2" class="mim-tip-reference" title="Carniel, E., Taylor, M. R. G., Sinagra, G., Di Lenarda, A., Ku, L., Fain, P. R., Boucek, M. M., Cavanaugh, J., Miocic, S., Slavov, D., Graw, S. L., Feiger, J., Zhu, X. Z., Dao, D., Ferguson, D. A., Bristow, M. R., Mestroni, L. <strong>Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.</strong> Circulation 112: 54-59, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15998695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15998695</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.104.507699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15998695">Carniel et al. (2005)</a> identified a heterozygous 3010G-T transversion in exon 23 of the MYH6 gene, resulting in an ala1004-to-ser (A1004S) substitution that alters polarity in a highly conserved region of the rod domain. The mutation was not found in 150 ethnically similar controls. The patient was diagnosed at 51 years of age, and developed congestive heart failure by 59 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15998695" 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>.0007 CARDIOMYOPATHY, DILATED, 1EE</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> rs267606905 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606905;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/rs267606905?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=rs267606905" 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=rs267606905" 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=RCV000015215 OR RCV000805305 OR RCV000845441 OR RCV002496368 OR RCV003298035 OR RCV004700238" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015215, RCV000805305, RCV000845441, RCV002496368, RCV003298035, RCV004700238" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015215...</a>
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<p>In a 57-year-old Caucasian proband with dilated cardiomyopathy (CMD1EE; <a href="/entry/613252">613252</a>), <a href="#2" class="mim-tip-reference" title="Carniel, E., Taylor, M. R. G., Sinagra, G., Di Lenarda, A., Ku, L., Fain, P. R., Boucek, M. M., Cavanaugh, J., Miocic, S., Slavov, D., Graw, S. L., Feiger, J., Zhu, X. Z., Dao, D., Ferguson, D. A., Bristow, M. R., Mestroni, L. <strong>Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.</strong> Circulation 112: 54-59, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15998695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15998695</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.104.507699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15998695">Carniel et al. (2005)</a> identified a heterozygous 4369G-A transition in exon 31 of the MYH6 gene, resulting in a glu1457-to-lys (E1457K) substitution at a highly conserved residue. This change was predicted to alter the alpha-helix of the rod domain, changing the conformation of a 4-amino acid region from an organized alpha-helix to a random-coil pattern. The mutation was not found in an unaffected relative or in 150 ethnically similar controls. The patient was diagnosed at 44 years of age, and had undergone heart transplantation by 57 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15998695" 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>.0008 SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO</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> rs387906656 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906656;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/rs387906656?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=rs387906656" 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=rs387906656" 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=RCV000022669 OR RCV001203574 OR RCV003129755" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022669, RCV001203574, RCV003129755" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022669...</a>
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<p>In a study of 38,384 Icelanders using complementary application of SNP genotyping, whole-genome sequencing, and imputation, <a href="#8" class="mim-tip-reference" title="Holm, H., Gudbjartsson, D. F., Sulem, P., Masson, G., Helgadottir, H., Zanon, C., Magnusson, O., Helgason, A., Saemundsdottir, J., Gylfason, A., Stefansdottir, H., Gretarsdottir, S., and 18 others. <strong>A rare variant in MYH6 is associated with high risk of sick sinus syndrome.</strong> Nature Genet. 43: 316-320, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21378987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21378987</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21378987[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21378987">Holm et al. (2011)</a> identified a C-to-T transition at nucleotide 2161 (2161C-T) in exon 18 of the MYH6 gene, resulting in an arginine-to-tryptophan substitution at codon 721 (R721W), as a mutation predisposing to sick sinus syndrome (SSS3; <a href="/entry/614090">614090</a>) (odds ratio = 12.53, 95% CI, 8.08-19.44, P = 1.5 x 10(-29)). The 2161C-T mutation was predicted to alter the structure of the converter domain of alpha-MHC, which plays a critical role in amplifying the structural rearrangements in the motor domain and transmitting them to the alpha-helical tail during movements of the myosin during contraction. Among Icelanders, the allelic frequency of this variant is 0.38%. <a href="#8" class="mim-tip-reference" title="Holm, H., Gudbjartsson, D. F., Sulem, P., Masson, G., Helgadottir, H., Zanon, C., Magnusson, O., Helgason, A., Saemundsdottir, J., Gylfason, A., Stefansdottir, H., Gretarsdottir, S., and 18 others. <strong>A rare variant in MYH6 is associated with high risk of sick sinus syndrome.</strong> Nature Genet. 43: 316-320, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21378987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21378987</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21378987[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21378987">Holm et al. (2011)</a> showed that while the lifetime risk of being diagnosed with sick sinus syndrome is approximately 6% for noncarriers, the risk for carriers of being diagnosed is approximately 50%. There was also a significant association (P = 3.6 x 10(-25), OR = 10.17, 95% CI, 6.56-15.77) between the 2161C-T variant and the necessity for pacemaker implantation. There was a residual association, after exclusion of sick sinus syndrome cases, with several diseases, including atrial fibrillation and thoracic aortic aneurysm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21378987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Edwards1985" class="mim-tip-reference" title="Edwards, Y. H., Parkar, M., Povey, S., West, L. F., Parrington, J. M., Solomon, E. <strong>Human myosin heavy chain genes assigned to chromosome 17 using a human cDNA clone as probe.</strong> Ann. Hum. Genet. 49: 101-109, 1985.">Edwards et al. (1985)</a>; <a href="#Jaenicke1990" class="mim-tip-reference" title="Jaenicke, T., Diederich, K. W., Haas, W., Schleich, J., Lichter, P., Pfordt, M., Bach, A., Vosberg, H.-P. <strong>The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product.</strong> Genomics 8: 194-206, 1990.">Jaenicke et al. (1990)</a>; <a href="#Lichter1986" class="mim-tip-reference" title="Lichter, P., Umeda, P. K., Levin, J. E., Vosberg, H.-P. <strong>Partial characterization of the human beta-myosin heavy-chain gene which is expressed in heart and skeletal muscle.</strong> Europ. J. Biochem. 160: 419-426, 1986.">Lichter et al. (1986)</a>
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<a id="Buckingham1986" class="mim-anchor"></a>
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Buckingham, M., Alonso, S., Barton, P., Cohen, A., Daubas, P., Garner, I., Robert, B., Weydert, A.
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<strong>Actin and myosin multigene families: their expression during the formation and maturation of striated muscle.</strong>
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Am. J. Med. Genet. 25: 623-634, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3789022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3789022</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3789022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320250405" target="_blank">Full Text</a>]
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Carniel, E., Taylor, M. R. G., Sinagra, G., Di Lenarda, A., Ku, L., Fain, P. R., Boucek, M. M., Cavanaugh, J., Miocic, S., Slavov, D., Graw, S. L., Feiger, J., Zhu, X. Z., Dao, D., Ferguson, D. A., Bristow, M. R., Mestroni, L.
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<strong>Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.</strong>
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Circulation 112: 54-59, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15998695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15998695</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15998695" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1161/CIRCULATIONAHA.104.507699" target="_blank">Full Text</a>]
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Ching, Y.-H., Ghosh, T. K., Cross, S. J., Packham, E. A., Honeyman, L., Loughna, S., Robinson, T. E., Dearlove, A. M., Ribas, G., Bonser, A. J., Thomas, N. R., Scotter, A. J., Caves, L. S. D., Tyrrell, G. P., Newbury-Ecob, R. A., Munnich, A., Bonnet, D., Brook, J. D.
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<strong>Mutation in myosin heavy chain 6 causes atrial septal defect.</strong>
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Nature Genet. 37: 423-428, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15735645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15735645</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15735645" 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/ng1526" target="_blank">Full Text</a>]
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Edwards, Y. H., Parkar, M., Povey, S., West, L. F., Parrington, J. M., Solomon, E.
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<strong>Human myosin heavy chain genes assigned to chromosome 17 using a human cDNA clone as probe.</strong>
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Ann. Hum. Genet. 49: 101-109, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3000272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3000272</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3000272" 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/10.1111/j.1469-1809.1985.tb01681.x" target="_blank">Full Text</a>]
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Epp, T. A., Dixon, I. M. C., Wang, H.-Y., Sole, M. J., Liew, C.-C.
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<strong>Structural organization of the human cardiac alpha-myosin heavy chain gene (MYH6).</strong>
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Genomics 18: 505-509, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8307559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8307559</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8307559" 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/s0888-7543(11)80006-6" target="_blank">Full Text</a>]
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Geisterfer-Lowrance, A. A. T., Kass, S., Tanigawa, G., Vosberg, H.-P., McKenna, W., Seidman, C. E., Seidman, J. G.
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<strong>A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975517</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1975517" 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/10.1016/0092-8674(90)90274-i" target="_blank">Full Text</a>]
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Hang, C. T., Yang, J., Han, P., Cheng, H.-L., Shang, C., Ashley, E., Zhou, B., Chang, C.-P.
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<strong>Chromatin regulation by Brg1 underlies heart muscle development and disease.</strong>
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Nature 466: 62-67, 2010. Note: Erratum: Nature 475: 532 only, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20596014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20596014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20596014[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=20596014" 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/nature09130" target="_blank">Full Text</a>]
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Holm, H., Gudbjartsson, D. F., Sulem, P., Masson, G., Helgadottir, H., Zanon, C., Magnusson, O., Helgason, A., Saemundsdottir, J., Gylfason, A., Stefansdottir, H., Gretarsdottir, S., and 18 others.
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<strong>A rare variant in MYH6 is associated with high risk of sick sinus syndrome.</strong>
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Nature Genet. 43: 316-320, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21378987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21378987</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21378987[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=21378987" 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/ng.781" target="_blank">Full Text</a>]
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Jaenicke, T., Diederich, K. W., Haas, W., Schleich, J., Lichter, P., Pfordt, M., Bach, A., Vosberg, H.-P.
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<strong>The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product.</strong>
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Genomics 8: 194-206, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2249844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2249844</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2249844" 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/10.1016/0888-7543(90)90272-v" target="_blank">Full Text</a>]
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<a id="Jiang2013" class="mim-anchor"></a>
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Jiang, J., Wakimoto, H., Seidman, J. G., Seidman, C. E.
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<strong>Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy.</strong>
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Science 342: 111-114, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24092743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24092743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24092743[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=24092743" 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/10.1126/science.1236921" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.81.9.2626" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3864153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3864153</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3864153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.82.21.7183" 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="29" class="mim-anchor"></a>
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<a id="Yamauchi-Takihara1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yamauchi-Takihara, K., Sole, M. J., Liew, J., Ing, D., Liew, C. C.
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<strong>Characterization of human cardiac myosin heavy chain genes.</strong>
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Proc. Nat. Acad. Sci. 86: 3504-3508, 1989. Note: Erratum: Proc. Nat. Acad. Sci. 86: 7416-7417, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2726733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2726733</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2726733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.86.10.3504" target="_blank">Full Text</a>]
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</p>
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</ol>
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 04/17/2018
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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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Ada Hamosh - updated : 01/29/2014<br>Ada Hamosh - updated : 7/7/2011<br>Ada Hamosh - updated : 9/27/2010<br>Marla J. F. O'Neill - updated : 2/4/2010<br>Ada Hamosh - updated : 6/4/2007<br>Victor A. McKusick - updated : 3/29/2005<br>Paul Brennan - updated : 3/11/2002<br>Victor A. McKusick - updated : 3/3/1999<br>Victor A. McKusick - updated : 4/10/1997
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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="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 : 6/23/1986
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</span>
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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 : 02/19/2025
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</span>
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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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alopez : 02/17/2020<br>carol : 01/09/2020<br>carol : 01/08/2020<br>carol : 04/17/2018<br>alopez : 01/29/2014<br>carol : 4/1/2013<br>terry : 6/11/2012<br>mgross : 8/9/2011<br>alopez : 7/14/2011<br>alopez : 7/14/2011<br>terry : 7/7/2011<br>alopez : 9/28/2010<br>alopez : 9/28/2010<br>terry : 9/27/2010<br>alopez : 6/29/2010<br>alopez : 6/29/2010<br>wwang : 2/15/2010<br>terry : 2/4/2010<br>wwang : 7/29/2009<br>alopez : 6/15/2007<br>alopez : 6/12/2007<br>terry : 6/4/2007<br>tkritzer : 4/6/2005<br>tkritzer : 4/1/2005<br>terry : 3/29/2005<br>alopez : 3/11/2002<br>alopez : 3/11/2002<br>terry : 1/19/2000<br>alopez : 4/30/1999<br>carol : 3/8/1999<br>terry : 3/3/1999<br>dkim : 12/16/1998<br>mark : 4/10/1997<br>terry : 4/3/1997<br>jason : 7/18/1994<br>warfield : 4/12/1994<br>carol : 2/1/1994<br>carol : 10/9/1992<br>supermim : 3/16/1992<br>carol : 3/6/1992
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</span>
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</div>
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<div class="container visible-print-block">
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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> 160710
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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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MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, ALPHA; MYH6
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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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MYH, CARDIAC; MYHC<br />
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MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MYH6</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>
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<em>
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Cytogenetic location: 14q11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 14:23,381,987-23,408,273 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<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>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="4">
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<span class="mim-font">
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14q11.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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?Atrial septal defect 3
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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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614089
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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{Sick sinus syndrome 3}
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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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614090
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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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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
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Cardiomyopathy, dilated, 1EE
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
613252
|
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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">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Cardiomyopathy, hypertrophic, 14
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
613251
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cardiac muscle myosin is one of the major components of the sarcomere, the building block of the contractile system of cardiac muscle (summary by Holm et al., 2011). The MYH6 gene encodes the alpha heavy chain subunit of cardiac myosin (alpha-MHC), a fast ATPase primarily expressed in atrial tissue. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kurabayashi et al. (1988) constructed and characterized 2 types of myosin heavy chain cDNA clones from a fetal human heart cDNA library. Nucleotide and deduced amino acid sequences showed 95.1 and 96.2% homology, respectively. The carboxyl-terminal peptide and 3-prime untranslated regions were highly divergent and specific. They showed that one was transcribed exclusively in the atrium and therefore represented the alpha form of MYHC, whereas the other was predominantly expressed in the ventricle and therefore represented the beta form. </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>
|
|
<span class="mim-font">
|
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<strong>Gene Family</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>The level of expression of fetal and adult MYH genes varies throughout the life span of the animal and can be modulated reversibly by physiologic conditions such as mechanical overload and level of circulating hormones. Striking nucleotide sequence homology of the mRNAs of adult cardiac, embryonic and adult skeletal MYH suggests that they arose from a common ancestral gene (Mahdavi et al., 1982). (Mahdavi et al. (1982) used the abbreviation MHC for myosin heavy chain, but this presents confusion with the major histocompatibility complex.) </p><p>Mahdavi et al. (1984) found that in the rat the alpha and beta genes are organized in tandem and span 50 kilobases of the chromosome. The beta-MYHC gene (MYH7; 160760), predominantly expressed in late fetal life, is located 4 kb upstream from the alpha-MYHC gene, predominantly expressed in the adult. The 2 genes are closely related in nucleotide sequence, suggesting that they have arisen by duplication of a common ancestor, yet their expression in the ventricular myocardium is regulated in an antithetic manner by thyroid hormone. The parallel to hemoglobin genes in anatomic positioning in relation to expression in ontogeny is obvious. The embryonic, newborn, and adult skeletal muscle MYHC genes are also, it seems, organized in a head-to-tail fashion in the order of their developmental expression. Unlike the hemoglobin and immunoglobulin examples in which switches are unidirectional--a gene switched off in a terminally differentiated cell cannot be switched on again--the beta-MYHC gene can be switched on again either spontaneously in older animals or experimentally in response to thyroid hormone depletion/replacement or different mechanical stimuli. The alpha-MYHC gene is expressed also in atrial muscle and the beta-MYHC gene in skeletal slow-twitch muscle. </p><p>Buckingham et al. (1986) provided a summary of the actin (see 102540) and myosin multigene families in mouse and man. In both mouse and man, the cardiac and skeletal actin and myosin genes map to different chromosomes (Robert et al., 1985). The only linkage observed is between myosin heavy chain genes expressed sequentially during striated muscle development. Thus, cardiac myosin heavy chain genes map to mouse chromosome 14, whereas the embryonic or early fetal, perinatal and adult myosin heavy chain genes expressed in skeletal muscle are present as a gene cluster on mouse chromosome 11 (Weydert et al., 1985). This suggests that cis-acting factors are important in the sequential expression of these genes during development, whereas transacting factors are implicated in the coexpression of genes in different multigene families in a given phenotype. The myosin heavy chains are coded by a multigene family consisting of at least 10 members. The heavy chains for skeletal muscle myosin are coded by chromosome 17. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
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</h4>
|
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</div>
|
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<span class="mim-text-font">
|
|
<p>Geisterfer-Lowrance et al. (1990) diagrammed the exon map of the cardiac MYHC genes. </p><p>Epp et al. (1993) reported the complete nucleotide sequence of the human MYH6 gene, encompassing 26,159 bp as well as the entire 4,484-bp 5-prime flanking intergenic region. The MYH6 gene has 39 exons, 37 of which contain coding information. The 5-prime untranslated region is split into 3 exons, with the third exon containing the AUG translation initiation codon. With the exception of intron 13 of the cardiac beta-myosin heavy chain gene (MYH7), which is not present within the alpha-isogene, all exon/intron boundaries are conserved. </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>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Van Rooij et al. (2007) found that microRNA-208 (MIRN208; 611116), a cardiac-specific microRNA encoded by intron 27 of the MYH6 gene, is required for cardiomyocyte hypertrophy, fibrosis, and expression of MYH7 in response to stress and hypothyroidism. </p><p>In mice, adult cardiomyocytes primarily express alpha-myosin heavy chain (alpha-MHC, also known as Myh6), whereas embryonic cardiomyocytes express beta-MHC (also known as Myh7, 160760). Cardiac stress triggers adult hearts to undergo hypertrophy and a shift from alpha-MHC to fetal beta-MHC expression. Hang et al. (2010) showed that BRG1 (603254), a chromatin-remodeling protein, has a critical role in regulating cardiac growth, differentiation, and gene expression. In embryos, Brg1 promotes myocyte proliferation by maintaining Bmp10 (608748) and suppressing p57(kip2) (600856) expression. It preserves fetal cardiac differentiation by interacting with histone deacetylases (HDACs; see 601241) and poly(ADP ribose) polymerase (PARP; 173870) to repress alpha-MHC and activate beta-MHC. In adults, Brg1 (also known as Smarca4) is turned off in cardiomyocytes. It is reactivated by cardiac stresses and forms a complex with its embryonic partners, HDAC and PARP, to induce a pathologic alpha-MHC-to-beta-MHC shift. Preventing Brg1 reexpression decreases hypertrophy and reverses this MHC switch. BRG1 is activated in certain patients with hypertrophic cardiomyopathy, its level correlating with disease severity and MHC changes. Hang et al. (2010) concluded that their studies showed that BRG1 maintains cardiomyocytes in an embryonic state, and demonstrated an epigenetic mechanism by which 3 classes of chromatin-modifying factors, BRG1, HDAC, and PARP, cooperate to control developmental and pathologic gene expression. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
|
</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>Saez et al. (1987) used a gene-specific oligonucleotide to isolate the beta-myosin heavy chain gene (which is expressed in both cardiac and skeletal muscle) and showed that it is located 3.6 kb upstream of the alpha cardiac myosin gene. By studies in somatic cell hybrids, they showed, furthermore, that the beta and alpha cardiac myosin heavy chain genes are located on chromosome 14. No suggestion of hybridization with human chromosome 17 was detected, contrary to earlier findings (Rappold and Vosberg, 1983). Thus, just as the human skeletal and cardiac alpha-actin genes are located on separate chromosomes (15 and 1, respectively), the myosin genes are on separate chromosomes. As with the beta-myosin heavy chain genes, the cardiac actin gene is coexpressed in adult skeletal muscle. Matsuoka et al. (1988) showed that the MYHCA locus is on chromosome 14 by Southern analysis of human genomic DNA from human-Chinese hamster and human-mouse somatic cell hybrids. </p><p>Matsuoka et al. (1989) regionalized the assignments of MYH6 and MYH7 to 14q11.2-q13 by hybridization of probes to DNA from cell lines with deletions or duplications in chromosome 14 and by in situ hybridization. In the mouse, cardiac and skeletal myosin heavy chain genes are syntenic; this is not the case in man. The latter genes are located on human chromosome 17. </p><p>Yamauchi-Takihara et al. (1989) showed that the MYHCA and MYHCB genes are tandemly linked in a total length of 51 kb. The MYHCB gene, which is predominantly expressed in ventricle and in slow-twitch skeletal muscle, is located 4.5 kb upstream from the MYHCA gene, which is predominantly expressed in human atrium. </p><p>Geisterfer-Lowrance et al. (1990) diagrammed the head-to-tail orientation of the alpha and beta cardiac myosin heavy chain genes showing the beta gene located 5-prime to the alpha gene. </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>Nadal-Ginard and Mahdavi (1989) reviewed the molecular biology of the cardiac contractile apparatus and emphasized the plasticity in terms of isoform switches in response to physiologic and pathologic stimuli. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Familial Hypertrophic Cardiomyopathy 14</em></strong></p><p>
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In a 75-year-old woman with late-onset hypertrophic cardiomyopathy (CMH14; 613251), Niimura et al. (2002) identified a heterozygous mutation in the MYH6 gene (R795Q; 160710.0002). </p><p>Carniel et al. (2005) analyzed the MYH6 gene in 21 families with hypertrophic cardiomyopathy (CMH) and identified heterozygous missense mutations in 1 CMH14 proband (160710.0004). The mutation was located at a highly conserved residue in the rod domain and was predicted to change the structure of MYHCA. </p><p><strong><em>Dilated Cardiomyopathy 1EE</em></strong></p><p>
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Carniel et al. (2005) analyzed the MYH6 gene in 69 families with dilated cardiomyopathy (CMD) and identified heterozygosity for 3 different missense mutations in 3 CMD1EE (613252) probands (160710.0005-160710.0007). All of the mutations were located at highly conserved residues, were predicted to change the structure or chemical bonds of MYHCA, and were absent in at least 300 control chromosomes from an ethnically similar population. </p><p><strong><em>Atrial Septal Defect 3</em></strong></p><p>
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In all affected members of a 4-generation family with atrial septal defect (ASD3; 614089), Ching et al. (2005) found heterozygosity for an ile820-to-asn mutation (I820N; 160710.0003). </p><p><strong><em>Sick Sinus Syndrome Susceptibility</em></strong></p><p>
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Through complementary application of SNP genotyping, whole genome sequencing, and imputation in 38,384 Icelanders, Holm et al. (2011) identified MYH6 as a susceptibility gene for sick sinus syndrome (SSS3; 614090). A missense variant in this gene (160710.0008), arg721 to trp, has an allelic frequency of 0.38% in Icelanders and associates with sick sinus syndrome with an odds ratio of 12.53 and P = 1.5 x 10(-29). Holm et al. (2011) showed that the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for noncarriers of this variant but is approximately 50% for carriers of the variant. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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In a cohort of 2,871 probands with congenital heart disease, comprising 2,645 parent-offspring trios and 226 singletons, Jin et al. (2017) performed whole-exome sequencing and identified 7 probands with compound heterozygosity or homozygosity for missense, frameshift, splice site, and/or nonsense mutations in the MYH6 gene. Cardiac phenotypes included 4 patients with left ventricular outflow tract obstruction who manifested 'Shone complex' (mitral and aortic valve obstruction with aortic arch obstruction), 1 patient with conotruncal defects and transposition of the great arteries, 1 patient with atrioventricular canal defects, and 1 patient with multiple atrial septal defects with a membranous ventricular septal defect. Other features reported in these patients included learning disabilities in 2, 1 of whom was also reported to have hypothyroidism; the presence or absence of neurodevelopmental disorders was reported as 'unknown' in 3 patients because they were less than 1 year of age. </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>The human hypertrophic cardiomyopathy-causing mutation MYH7 R403Q (160760.0001) causes particularly severe disease characterized by early-onset and progressive myocardial dysfunction, with a high incidence of cardiac sudden death. MHC(403/+) mice express an R403Q mutation in Myh6 under the control of the endogenous Myh locus. Jiang et al. (2013) found that expression of the Myh6 R403Q mutation in mice can be selectively silenced by an RNA interference (RNAi) cassette delivered by an adeno-associated virus vector. RNAi-transduced MHC(403/+) mice developed neither hypertrophy nor myocardial fibrosis, the pathologic manifestations of hypertrophic cardiomyopathy, for at least 6 months. Because inhibition of hypertrophic cardiomyopathy was achieved by only a 25% reduction in the levels of mutant transcripts, Jiang et al. (2013) suggested that the variable clinical phenotype in hypertrophic cardiomyopathy patients reflects allele-specific expression and that partial silencing of mutant transcripts may have therapeutic benefit. </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>8 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 MYOSIN, CARDIAC, HEAVY CHAIN VARIANT</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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MYH6, MYH6/MYH7 HYBRID
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<br />
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ClinVar: RCV000015209
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a large 4-generation family segregating autosomal dominant familial hypertrophic cardiomyopathy (see CMH1, 192600) with linkage to markers in the region of the cardiac MYHC genes, Solomon et al. (1990) identified a novel restriction fragment in the cardiac MYHC genes of all affected members. Tanigawa et al. (1990) demonstrated that this novel fragment resulted from a Lepore-like alpha/beta cardiac MYHC hybrid gene. Since the mutation affected polypeptides critical to myofibril structure, the mutation was considered to be responsible for the disorder. They suggested that nonhomologous pairing of the alpha and beta cardiac myosin heavy chain genes and an unequal crossover event in or near exon 27 resulted in a hybrid gene as well as complete alpha and beta genes on the same chromosome. Thus the change is more comparable to hemoglobin P(Congo), in which a hybrid beta/delta gene is flanked by complete delta and beta hemoglobin genes (see 141900.0214), than to hemoglobin Lepore, which produces a delta/beta hemoglobin hybrid gene with deletion of both the delta and beta genes. Seidman (1992) later found that in fact this family had a missense mutation in exon 14 of the MYH7 gene (160760) which was probably the cause of the cardiomyopathy because all other affected families have had missense mutations and the family reported by Teare (1958) had the same missense mutation but lacked the fusion gene. The fusion gene has the promoter of the alpha (MYH6) gene and might not be expected to be expressed in the ventricle. </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 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYH6, ARG795GLN
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<br />
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SNP: rs267606907,
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gnomAD: rs267606907,
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ClinVar: RCV000015210, RCV002453263, RCV002504791, RCV003125831
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 75-year-old woman with late-onset hypertrophic cardiomyopathy (CMH14; 613251), Niimura et al. (2002) identified a heterozygous 2384G-A transition in exon 20 of the MYH6 gene, predicted to result in an arg795-to-glu (R795Q) substitution at a conserved residue within a conserved protein-binding motif through which the myosin heavy chain interacts with essential light chains. Niimura et al. (2002) suggested that substitution of a hydrophilic glutamine residue at this site could exert its effect by interfering with light chain interaction. The mutation was not found in more than 170 unrelated controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 ATRIAL SEPTAL DEFECT 3</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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MYH6, ILE820ASN
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<br />
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SNP: rs267606903,
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ClinVar: RCV000015211
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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 all affected members, all obligate carriers, and in 1 other individual from a large family with dominantly inherited atrial septal defect (ASD3; 614089) and no other cardiac abnormalities, Ching et al. (2005) identified a 1849T-A transversion in exon 21 of the MYH6 gene, resulting in an ile820-to-asn (I820N) substitution in the neck region of the protein. This substitution places a polar side chain into an apolar environment, which suggests that the mutant complex is destabilized relative to the wildtype complex. Amino acid 820 was found to be conserved in type II myosins across all species examined; a hydrophilic amino acid at the site corresponding to the mutant residue had not previously been identified. The mutation was not identified in unaffected family members or in 200 chromosomes screened from healthy unrelated individuals. </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>.0004 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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|
MYH6, GLN1065HIS
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<br />
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|
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SNP: rs267606904,
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gnomAD: rs267606904,
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|
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ClinVar: RCV000015212, RCV000037469, RCV000171836, RCV000414926, RCV000845359, RCV002321482
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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 Caucasian proband with hypertrophic cardiomyopathy (CMH14; 613251), who was diagnosed at 27 years of age and died from congestive heart failure at 45 years of age, Carniel et al. (2005) identified a heterozygous 3195G-C transversion in exon 24 of the MYH6 gene, resulting in a gln1065-to-his (Q1065H) substitution at a highly conserved residue of the rod domain. The mutation was not found in 2 unaffected offspring or 150 ethnically similar controls. Family history was significant for sudden death at age 47 years of the proband's affected mother. </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>.0005 CARDIOMYOPATHY, DILATED, 1EE</strong>
|
|
</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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|
MYH6, PRO830LEU
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<br />
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|
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SNP: rs267606906,
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|
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ClinVar: RCV000015213
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 75-year-old Caucasian proband with dilated cardiomyopathy (CMD1EE; 613252), Carniel et al. (2005) identified a heterozygous 2489C-T transition in exon 21 of the MYH6 gene, resulting in a pro830-to-leu (P830L) substitution at a highly conserved residue in the globular head of MYHCA, predicted to alter the secondary structure of the light-chain binding domain. The patient was diagnosed at 56 years of age, and had developed congestive heart failure by 75 years of age. The mutation was not found in 150 ethnically similar controls. </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>.0006 CARDIOMYOPATHY, DILATED, 1EE</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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MYH6, ALA1004SER
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<br />
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|
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SNP: rs143978652,
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|
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gnomAD: rs143978652,
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|
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|
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ClinVar: RCV000015214, RCV000037468, RCV000172563, RCV000201499, RCV000244450, RCV000623034, RCV000656144, RCV000723680, RCV000770446, RCV000852696, RCV004765306
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</span>
|
|
</div>
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 59-year-old Caucasian proband with dilated cardiomyopathy (CMD1EE; 613252), Carniel et al. (2005) identified a heterozygous 3010G-T transversion in exon 23 of the MYH6 gene, resulting in an ala1004-to-ser (A1004S) substitution that alters polarity in a highly conserved region of the rod domain. The mutation was not found in 150 ethnically similar controls. The patient was diagnosed at 51 years of age, and developed congestive heart failure by 59 years of age. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0007 CARDIOMYOPATHY, DILATED, 1EE</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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MYH6, GLU1457LYS
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<br />
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SNP: rs267606905,
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gnomAD: rs267606905,
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ClinVar: RCV000015215, RCV000805305, RCV000845441, RCV002496368, RCV003298035, RCV004700238
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a 57-year-old Caucasian proband with dilated cardiomyopathy (CMD1EE; 613252), Carniel et al. (2005) identified a heterozygous 4369G-A transition in exon 31 of the MYH6 gene, resulting in a glu1457-to-lys (E1457K) substitution at a highly conserved residue. This change was predicted to alter the alpha-helix of the rod domain, changing the conformation of a 4-amino acid region from an organized alpha-helix to a random-coil pattern. The mutation was not found in an unaffected relative or in 150 ethnically similar controls. The patient was diagnosed at 44 years of age, and had undergone heart transplantation by 57 years of age. </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>.0008 SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO</strong>
|
|
</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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MYH6, ARG721TRP
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<br />
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SNP: rs387906656,
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gnomAD: rs387906656,
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ClinVar: RCV000022669, RCV001203574, RCV003129755
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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 study of 38,384 Icelanders using complementary application of SNP genotyping, whole-genome sequencing, and imputation, Holm et al. (2011) identified a C-to-T transition at nucleotide 2161 (2161C-T) in exon 18 of the MYH6 gene, resulting in an arginine-to-tryptophan substitution at codon 721 (R721W), as a mutation predisposing to sick sinus syndrome (SSS3; 614090) (odds ratio = 12.53, 95% CI, 8.08-19.44, P = 1.5 x 10(-29)). The 2161C-T mutation was predicted to alter the structure of the converter domain of alpha-MHC, which plays a critical role in amplifying the structural rearrangements in the motor domain and transmitting them to the alpha-helical tail during movements of the myosin during contraction. Among Icelanders, the allelic frequency of this variant is 0.38%. Holm et al. (2011) showed that while the lifetime risk of being diagnosed with sick sinus syndrome is approximately 6% for noncarriers, the risk for carriers of being diagnosed is approximately 50%. There was also a significant association (P = 3.6 x 10(-25), OR = 10.17, 95% CI, 6.56-15.77) between the 2161C-T variant and the necessity for pacemaker implantation. There was a residual association, after exclusion of sick sinus syndrome cases, with several diseases, including atrial fibrillation and thoracic aortic aneurysm. </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>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Edwards et al. (1985); Jaenicke et al. (1990); Lichter et al. (1986)
|
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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>REFERENCES</strong>
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Contributors:
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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 : 04/17/2018<br>Ada Hamosh - updated : 01/29/2014<br>Ada Hamosh - updated : 7/7/2011<br>Ada Hamosh - updated : 9/27/2010<br>Marla J. F. O'Neill - updated : 2/4/2010<br>Ada Hamosh - updated : 6/4/2007<br>Victor A. McKusick - updated : 3/29/2005<br>Paul Brennan - updated : 3/11/2002<br>Victor A. McKusick - updated : 3/3/1999<br>Victor A. McKusick - updated : 4/10/1997
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/23/1986
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Edit History:
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