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Entry
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- *102540 - ACTIN, ALPHA, CARDIAC MUSCLE; ACTC1
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- OMIM
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</ul>
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</div>
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</nav>
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</div>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="row">
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<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</li>
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<li role="separator" class="divider"></li>
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<li>
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<a href="/history"> Search History </a>
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</li>
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</ul>
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</div>
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</div>
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<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
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</div>
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</div>
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<span class="small">
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</form>
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<div class="row">
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<p />
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</div>
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<!-- <div id="mimSearch"> -->
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<div id="mimAlertBanner">
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</div>
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</div>
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</div>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*102540</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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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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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>
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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>
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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>
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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>
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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">
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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/102540">Table View</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>
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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">
|
|
<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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|
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000159251;t=ENST00000290378" 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=70" 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=102540" 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=ENSG00000159251;t=ENST00000290378" 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_001406482,NM_001406483,NM_001406484,NM_001406485,NM_005159,XM_047432979" 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_005159" 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=102540" 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=00015&isoform_id=00015_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/ACTC1" 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/178039,763108,4885049,14602986,49456547,54036697,119612722,119612723,119612724,158254664,193786474,1033207291,1033207293,2217302430,2239782091,2239782366,2239788797,2239796644" 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/P68032" 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">
|
|
<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=70" 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=ENSG00000159251;t=ENST00000290378" 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=ACTC1" 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=ACTC1" 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+70" 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/ACTC1" 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:70" 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/70" 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=chr15&hgg_gene=ENST00000290378.6&hgg_start=34790230&hgg_end=34795549&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/gene-dosage/HGNC:143" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:143" 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=102540[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=102540[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/ACTC1/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/ENSG00000159251" 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.gwascentral.org/search?q=ACTC1" 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=ACTC1" 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="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://genetics.med.harvard.edu/~seidman/cg3/genes/ACTC_info.html" title="Sarcomere Protein Gene Mutation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Sarcomere Protein Gene Mut…</a></div><div style="margin-left: 0.5em;"><a href="http://www.angis.org.au/Databases/Heart/heartbreak.html" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">FHC Mutation Database</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ACTC1&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/PA162375571" 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:143" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:87905" 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/ACTC1#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:87905" 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/70/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=70" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-000322-1" 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:70" 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=ACTC1&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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102540
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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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ACTIN, ALPHA, CARDIAC MUSCLE; ACTC1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
ACTC<br />
|
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SMOOTH MUSCLE ACTIN<br />
|
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ACTIN, ALPHA
|
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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">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ACTC1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ACTC1</a></em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/15/78?start=-3&limit=10&highlight=78">15q14</a>
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|
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:34790230-34795549&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'})">15:34,790,230-34,795,549</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
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Location
|
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</th>
|
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<th>
|
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Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
|
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<a href="/clinicalSynopsis/table?mimNumber=612794,613424,612098,613424" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
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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/15/78?start=-3&limit=10&highlight=78">
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15q14
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Atrial septal defect 5
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<span class="mim-font">
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<a href="/entry/612794"> 612794 </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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Cardiomyopathy, dilated, 1R
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<span class="mim-font">
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<a href="/entry/613424"> 613424 </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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Cardiomyopathy, hypertrophic, 11
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<span class="mim-font">
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<a href="/entry/612098"> 612098 </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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Left ventricular noncompaction 4
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<span class="mim-font">
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<a href="/entry/613424"> 613424 </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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PheneGene Graphics <span class="caret"></span>
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</button>
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<li><a href="/graph/linear/102540" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/102540" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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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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<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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<strong>Description</strong>
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<span class="mim-text-font">
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<p>ACTC1 is the major component of cardiac sarcomeric thin filaments and is essential for cardiac muscle contraction (summary by <a href="#16" class="mim-tip-reference" title="Matsson, H., Eason, J., Bookwalter, C. S., Klar, J., Gustavsson, P., Sunnegardh, J., Enell, H., Jonzon, A., Vikkula, M., Gutierrez, I., Granados-Riveron, J., Pope, M., Bu'Lock, F., Cox, J., Robinson, T. E., Song, F., Brook, D. J., Marston, S., Trybus, K. M., Dahl, N. <strong>Alpha-cardiac actin mutations produce atrial septal defects.</strong> Hum. Molec. Genet. 17: 256-265, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17947298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17947298</a>] [<a href="https://doi.org/10.1093/hmg/ddm302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17947298">Matsson et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17947298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Cloning and Expression</strong>
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<p>Because actin is a highly conserved protein, <a href="#6" class="mim-tip-reference" title="Engel, J. N., Gunning, P. W., Kedes, L. <strong>Isolation and characterization of human actin genes.</strong> Proc. Nat. Acad. Sci. 78: 4674-4678, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6272269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6272269</a>] [<a href="https://doi.org/10.1073/pnas.78.8.4674" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6272269">Engel et al. (1981)</a> could use cloned actin genes from Drosophila and from chicken to isolate 12 actin gene fragments from a human DNA library. Restriction endonuclease studies of each indicated that they are not allelic and are from nonoverlapping regions of the genome. In all, 25 to 30 EcoRI fragments homologous to actin genes were found in the human genome and no restriction site polymorphism was found indicating evolutionary conservatism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6272269" 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="#12" class="mim-tip-reference" title="Humphries, S. E., Whittall, R., Minty, A., Buckingham, M., Williamson, R. <strong>There are approximately 20 actin genes in the human genome.</strong> Nucleic Acids Res. 9: 4895-4908, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6273789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6273789</a>] [<a href="https://doi.org/10.1093/nar/9.19.4895" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6273789">Humphries et al. (1981)</a> used probes from the mouse to detect actin genes in human DNA and concluded that there are about 20 actin genes in the human genome. Three lines of evidence supported this number: the rate of hybridization of the mouse probe with human DNA; the fact that the probe hybridizes to 17-20 bands in Southern blots of restriction enzyme digests of total human DNA; restriction enzyme mapping of individual human actin genes indicating at least 9 different genes, judged on probability grounds to have been picked from a pool of at least 20. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6273789" 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="#11" class="mim-tip-reference" title="Hamada, H., Petrino, M. G., Kakunaga, T. <strong>Molecular structure and evolutionary origin of human cardiac muscle actin gene.</strong> Proc. Nat. Acad. Sci. 79: 5901-5905, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6310553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6310553</a>] [<a href="https://doi.org/10.1073/pnas.79.19.5901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6310553">Hamada et al. (1982)</a> isolated and characterized the human cardiac actin gene. The cardiac and skeletal actin genes showed close similarity, suggesting a relatively recent derivation from a common ancestral gene. Nucleotide sequences of all exon/intron boundaries agreed with the GT/AG rule (GT at the 5-prime and AG at the 3-prime termini of each intron). <a href="#10" class="mim-tip-reference" title="Gunning, P., Ponte, P., Kedes, L., Eddy, R., Shows, T. <strong>Chromosomal location of the co-expressed human skeletal and cardiac actin genes.</strong> Proc. Nat. Acad. Sci. 81: 1813-1817, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6584914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6584914</a>] [<a href="https://doi.org/10.1073/pnas.81.6.1813" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6584914">Gunning et al. (1984)</a> noted that the cardiac actin gene and the skeletal actin gene (<a href="/entry/102610">102610</a>) on chromosome 1 are coexpressed in both skeletal and heart muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6584914+6310553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a cDNA fragment from an exon of the human cardiac actin gene in somatic hybrid cell studies, <a href="#24" class="mim-tip-reference" title="Shows, T., Eddy, R. L., Haley, L., Byers, M., Henry, M., Gunning, P., Ponte, P., Kedes, L. <strong>The coexpressed genes for human alpha (ACTA) and cardiac actin (ACTC) are on chromosomes 1 and 15, respectively. (Abstract)</strong> Cytogenet. Cell Genet. 37: 583 only, 1984."None>Shows et al. (1984)</a> showed that the gene is coded by the segment 15q11-qter. <a href="#3" class="mim-tip-reference" title="Crosby, J. L., Phillips, S. J., Nadeau, J. H. <strong>The cardiac actin locus (Actc-1) is not on mouse chromosome 17 but is linked to beta-2-microglobulin on chromosome 2.</strong> Genomics 5: 19-23, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2570027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2570027</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90081-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2570027">Crosby et al. (1989)</a> showed that in the mouse the cardiac actin gene (Actc-1) is not on chromosome 17 as previously reported (<a href="#4" class="mim-tip-reference" title="Czosnek, H., Nudel, U., Mayer, Y., Barker, P. E., Pravtcheva, D. D., Ruddle, F. H., Yaffe, D. <strong>The genes coding for the cardiac muscle actin, the skeletal muscle actin and the cytoplasmic beta-actin are located on three different mouse chromosomes.</strong> EMBO J. 2: 1977-1979, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6641707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6641707</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1983.tb01687.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6641707">Czosnek et al., 1983</a>) but is located on chromosome 2. It is closely linked to beta-2-microglobulin as indicated by mapping studies using restriction fragment variants in recombinant inbred strains. Using a highly polymorphic CA repeat microsatellite within intron 4 of the ACTC gene, <a href="#14" class="mim-tip-reference" title="Kramer, P. L., Luty, J. A., Litt, M. <strong>Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q.</strong> Genomics 13: 904-905, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1639426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1639426</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90185-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1639426">Kramer et al. (1992)</a> did family linkage studies with multiple markers on 15q, thus permitting the gene to be placed on the chromosome linkage map. They demonstrated that it lies about 0.06 cM proximal to D15S49, which is about 0.05 cM proximal to D15S25, which in turn is about 0.07 cM proximal to D15S1; D15S1 is tightly linked to the Marfan syndrome and to fibrillin. Thus ACTC may be about 0.18 cM proximal to the fibrillin locus and no more distal than 15q21.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1639426+2570027+6641707" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By fluorescence in situ hybridization, <a href="#26" class="mim-tip-reference" title="Ueyama, H., Inazawa, J., Ariyama, T., Nishino, H., Ochiai, Y., Ohkubo, I., Miwa, T. <strong>Reexamination of chromosomal loci of human muscle actin genes by fluorescence in situ hybridization.</strong> Jpn. J. Hum. Genet. 40: 145-148, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7780165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7780165</a>] [<a href="https://doi.org/10.1007/BF01874078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7780165">Ueyama et al. (1995)</a> assigned the ACTC1 gene to chromosome 15q14. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7780165" 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>Actin has been identified in many kinds of cells including muscle, where it is a major constituent of the thin filament, and platelets. Muscle actins from sources as diverse as rabbits and fish are very similar in amino acid sequence. <a href="#5" class="mim-tip-reference" title="Elzinga, M., Maron, B. J., Adelstein, R. S. <strong>Human heart and platelet actins are products of different genes.</strong> Science 191: 94-95, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1246600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1246600</a>] [<a href="https://doi.org/10.1126/science.1246600" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1246600">Elzinga et al. (1976)</a> examined whether actin in different tissues of the same organism are products of the same gene. They found that human platelet and human cardiac actins differ by one amino acid, viz., threonine and valine, respectively, at position 129. Thus they must be determined by different genes. Actins can be separated by isoelectric focusing into 3 main groups which show more than 90% homology of amino acid sequence. <a href="#8" class="mim-tip-reference" title="Firtel, R. A. <strong>Multigene families encoding actin and tubulin.</strong> Cell 24: 6-7, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6894564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6894564</a>] [<a href="https://doi.org/10.1016/0092-8674(81)90494-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6894564">Firtel (1981)</a> referred to the actin of smooth muscle, the most acidic form, as alpha type and the 2 cytoplasmic forms as beta and gamma. Beta and gamma actins are involved in the cytoskeleton and in internal cell mobility phenomena. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1246600+6894564" 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>The actins constitute multiple gene families. There is only a 4% amino acid difference in the actins of Physarum and mammals. In mammals, 4 different muscle actins have been sequenced: from fast muscle, heart, aorta, and stomach. These vary only by 4 to 6 amino acids from each other, and by about 25 amino acids from the beta and gamma actins. Thus, from the protein data, at least 6 actin genes would be expected in mammals. Recombinant DNA probes for both actin and myosin of the mouse have been made (<a href="#28" class="mim-tip-reference" title="Weydert, A., Robert, B., Alonso, S., Caravatti, M., Cohen, A., Daubas, P., Minty, A., Buckingham, M. <strong>Multigene families of contractile proteins: the actins and myosins. (Abstract)</strong> Sixth International Congress of Human Genetics, Jerusalem 1981. P. 39."None>Weydert et al., 1981</a>).</p><p><a href="#2" 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 and myosin multigene families in mouse and man. Certain inbred mouse lines, e.g., BALB/c, have a mutant cardiac actin locus (<a href="#9" class="mim-tip-reference" title="Garner, I., Minty, A. J., Alonso, S., Barton, P. J., Buckingham, M. E. <strong>A 5-prime duplication of the alpha-cardiac actin gene in BALB/c mice is associated with abnormal levels of alpha-cardiac and alpha-skeletal actin mRNAs in adult cardiac tissue.</strong> EMBO J. 5: 2559-2567, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3023046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3023046</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1986.tb04535.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3023046">Garner et al., 1986</a>). The first 3 coding exons and promoter region of the gene are present as a duplication immediately upstream from the cardiac actin gene. The upstream promoter is active, and partial gene transcripts are generated which are correctly spliced for the first 3 coding exons but which terminate at cryptic sites in the region between the duplication and the gene. Transcriptional activity at the upstream promoter interferes with the downstream promoter of the bona fide cardiac actin gene, leading to a 5- to 6-fold reduction in cardiac actin mRNA in the hearts of BALB/c mice. In this situation there is an accumulation of skeletal actin gene transcripts in the adult hearts of these mice, which partially compensates for the reduction in cardiac actin transcripts. BALB/c mice have a normal life span and their hearts do not undergo hypertrophy. Apparently, cardiac and skeletal actins, which differ only by 4 out of 375 amino acids, are to some extent interchangeable. <a href="#23" class="mim-tip-reference" title="Schwartz, K., de la Bastie, D., Bouveret, P., Oliviero, P., Alonso, S., Buckingham, M. <strong>Alpha-skeletal muscle actin mRNAs accumulate in hypertrophied adult rat hearts.</strong> Circulation Res. 59: 551-555, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2948733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2948733</a>] [<a href="https://doi.org/10.1161/01.res.59.5.551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2948733">Schwartz et al. (1986)</a> found that under conditions of aortic stenosis leading to cardiac overload and cardiac hypertrophy, skeletal actin gene transcripts are found in adult rodent hearts in addition to the cardiac actin gene products normally present. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3023046+3789022+2948733" 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="#16" class="mim-tip-reference" title="Matsson, H., Eason, J., Bookwalter, C. S., Klar, J., Gustavsson, P., Sunnegardh, J., Enell, H., Jonzon, A., Vikkula, M., Gutierrez, I., Granados-Riveron, J., Pope, M., Bu'Lock, F., Cox, J., Robinson, T. E., Song, F., Brook, D. J., Marston, S., Trybus, K. M., Dahl, N. <strong>Alpha-cardiac actin mutations produce atrial septal defects.</strong> Hum. Molec. Genet. 17: 256-265, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17947298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17947298</a>] [<a href="https://doi.org/10.1093/hmg/ddm302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17947298">Matsson et al. (2008)</a> performed morpholino knockdown of the Actc1 gene in chick embryos and found significant association with delayed looping and reduced atrial septa, supporting a developmental role for the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17947298" 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="#7" class="mim-tip-reference" title="Fintha, A., Gasparics, A., Fang, L., Erdei, Z., Hamar, P., Mozes, M. M., Kokeny, G., Rosivall, L., Sebe, A. <strong>Characterization and role of SCAI during renal fibrosis and epithelial-to-mesenchymal transition.</strong> Am. J. Path. 182: 388-400, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23178076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23178076</a>] [<a href="https://doi.org/10.1016/j.ajpath.2012.10.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23178076">Fintha et al. (2013)</a> showed that overexpression of mouse Scai (<a href="/entry/619222">619222</a>) prevented alpha smooth muscle actin (Sma) promoter activation and protein expression induced by Tgf-beta-1 (<a href="/entry/190180">190180</a>) in mouse LLC-PK1 cells. Coexpression of Scai inhibited the stimulatory effects of Mrtfa (<a href="/entry/606078">606078</a>), Mrtfb (<a href="/entry/609463">609463</a>), and the constitutive active forms of Rhoa (<a href="/entry/165390">165390</a>), Rac1 (<a href="/entry/602048">602048</a>), and Cdc42 (<a href="/entry/116952">116952</a>) on the Sma promoter. These inhibitory effects of Scai were dependent on CArG boxes in the Sma promoter. Immunohistochemical analysis revealed reduced SCAI expression during fibrosis in human kidney. Similarly, Scai expression was significantly lost in kidneys of diabetic rats and mice with unilateral ureteral obstruction, resulting in robust expression of Sma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23178076" 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="#15" class="mim-tip-reference" title="Litt, M., Luty, J. A. <strong>A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.</strong> Am. J. Hum. Genet. 44: 397-401, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2563634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2563634</a>]" pmid="2563634">Litt and Luty (1989)</a> used PCR to amplify a microsatellite hypervariable repeat in the human cardiac actin gene. They detected 12 different allelic fragments in 37 unrelated individuals, of whom 32 were heterozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2563634" 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="#27" class="mim-tip-reference" title="Weber, J. L., May, P. E. <strong>Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.</strong> Am. J. Hum. Genet. 44: 388-396, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2916582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2916582</a>]" pmid="2916582">Weber and May (1989)</a> also found that (GT)n repeats within human loci are highly polymorphic.) In vertebrates, 6 actin isoforms are known: 4 muscle types (skeletal, cardiac, and 2 smooth muscle types) and 2 nonmuscle types (cytoplasmic actins). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2916582" 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 1R</em></strong></p><p>
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To test the hypothesis that actin dysfunction leads to heart failure, <a href="#22" class="mim-tip-reference" title="Olson, T. M., Michels, V. V., Thibodeau, S. N., Tai, Y.-S., Keating, M. T. <strong>Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.</strong> Science 280: 750-752, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9563954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9563954</a>] [<a href="https://doi.org/10.1126/science.280.5364.750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9563954">Olson et al. (1998)</a> examined patients with hereditary idiopathic dilated cardiomyopathy (see <a href="/entry/115200">115200</a>) for mutations in the cardiac ACTC gene. Missense mutations in ACTC (<a href="#0001">102540.0001</a> and <a href="#0002">102540.0002</a>) that cosegregated with a form of dilated cardiomyopathy, here designated CMD1R (<a href="/entry/613424">613424</a>), were identified in 2 unrelated families, respectively. Both mutations affected universally conserved amino acids in domains of actin that attached to Z bands and intercalated discs. Coupled with previous data showing that dystrophin mutations also cause dilated cardiomyopathy, these results raised the possibility that defective transmission of force in cardiac myocytes is a mechanism underlying heart failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9563954" 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>To determine how frequently mutations in the ACTC gene are responsible for dilated cardiomyopathy, <a href="#25" class="mim-tip-reference" title="Takai, E., Akita, H., Shiga, N., Kanazawa, K., Yamada, S., Terashima, M., Matsuda, Y., Iwai, C., Kawai, K., Yokota, Y., Yokoyama, M. <strong>Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy.</strong> Am. J. Med. Genet. 86: 325-327, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10494087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10494087</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19991008)86:4<325::aid-ajmg5>3.0.co;2-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10494087">Takai et al. (1999)</a> studied 136 Japanese cases of this disorder. Although several polymorphisms were found, no disease-causing changes were identified, leading <a href="#25" class="mim-tip-reference" title="Takai, E., Akita, H., Shiga, N., Kanazawa, K., Yamada, S., Terashima, M., Matsuda, Y., Iwai, C., Kawai, K., Yokota, Y., Yokoyama, M. <strong>Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy.</strong> Am. J. Med. Genet. 86: 325-327, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10494087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10494087</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19991008)86:4<325::aid-ajmg5>3.0.co;2-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10494087">Takai et al. (1999)</a> to conclude that mutation in the ACTC gene is a rare cause of dilated cardiomyopathy, at least in Japanese patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10494087" 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="Mayosi, B. M., Khogali, S. S., Zhang, B., Watkins, H. <strong>Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy.</strong> J. Med. Genet. 36: 796-797, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528865</a>] [<a href="https://doi.org/10.1136/jmg.36.10.796" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10528865">Mayosi et al. (1999)</a> studied 57 South African patients with dilated cardiomyopathy, 56% of whom were of black African origin. No mutation predicted to produce an alteration in protein was identified in either the skeletal or cardiac actin genes in any patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10528865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Hypertrophic Cardiomyopathy 11</em></strong></p><p>
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In a large 3-generation family with hypertrophic cardiomyopathy (CMH11; <a href="/entry/612098">612098</a>), <a href="#18" class="mim-tip-reference" title="Mogensen, J., Klausen, I. C., Pedersen, A. K., Egeblad, H., Bross, P., Kruse, T. A., Gregersen, N., Hansen, P. S., Baandrup, U., Borglum, A. D. <strong>Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.</strong> J. Clin. Invest. 103: R39-R43, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330430</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10330430[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/10.1172/JCI6460" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10330430">Mogensen et al. (1999)</a> identified heterozygosity for a missense mutation in the ACTC1 gene (A295S; <a href="#0003">102540.0003</a>) that was located near 2 missense mutations previously identified as causing an inherited form of dilated cardiomyopathy (CMD1R). The authors stated that ACTC1 was the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies, and hypothesized that ACTC1 mutations affecting sarcomere contraction lead to HCM and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to dilated cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10330430" 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="#21" class="mim-tip-reference" title="Olson, T. M., Doan, T. P., Kishimoto, N. Y., Whitby, F. G., Ackerman, M. J., Fananapazir, L. <strong>Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.</strong> J. Molec. Cell Cardiol. 32: 1687-1694, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10966831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10966831</a>] [<a href="https://doi.org/10.1006/jmcc.2000.1204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10966831">Olson et al. (2000)</a> screened the ACTC1 gene in 368 unrelated patients with sporadic or familial CMH and identified 3 different heterozygous mutations in 2 sporadic patients with apical CMH (<a href="#0007">102540.0007</a> and <a href="#0008">102540.0008</a>, respectively) and in a 4-generation family segregating autosomal dominant CMH (E101K; <a href="#0009">102540.0009</a>). None of the mutations was detected in 150 unrelated controls, and each involved a highly conserved residue in ACTC1. The authors noted that these and previously identified CMH-related ACTC1 mutations are likely to affect actin-myosin interaction and force generation; in contrast, CMD-related ACTC1 mutations (e.g., R312H and E361G) are not located in domains interacting with the myosin head, but rather occur in a region of the actin monomer that forms the immobilized end of the actin filament. <a href="#21" class="mim-tip-reference" title="Olson, T. M., Doan, T. P., Kishimoto, N. Y., Whitby, F. G., Ackerman, M. J., Fananapazir, L. <strong>Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.</strong> J. Molec. Cell Cardiol. 32: 1687-1694, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10966831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10966831</a>] [<a href="https://doi.org/10.1006/jmcc.2000.1204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10966831">Olson et al. (2000)</a> concluded that mutations in ACTC1 can cause either CMH or CMD, depending on the functional domain of actin that is affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10966831" 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 affected members of 2 families segregating autosomal dominant apical CMH over 3 generations, <a href="#1" class="mim-tip-reference" title="Arad, M., Penas-Lado, M., Monserrat, L., Maron, B. J., Sherrid, M., Ho, C. Y., Barr, S., Karim, A., Olson, T. M., Kamisago, M., Seidman, J. G., Seidman, C. E. <strong>Gene mutations in apical hypertrophic cardiomyopathy.</strong> Circulation 112: 2805-2811, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16267253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16267253</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.547448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16267253">Arad et al. (2005)</a> identified heterozygosity for the E101K mutation in the ACTC1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16267253" 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="#19" class="mim-tip-reference" title="Monserrat, L., Hermida-Prieto, M., Fernandez, X., Rodriguez, I., Dumont, C., Cazon, L., Cuesta, M. G., Gonzalez-Juanatey, C., Peteiro, J., Alvarez, N., Penas-Lado, M., Castro-Beiras, A. <strong>Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.</strong> Europ. Heart J. 28: 1953-1961, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17611253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17611253</a>] [<a href="https://doi.org/10.1093/eurheartj/ehm239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17611253">Monserrat et al. (2007)</a> screened 247 probands with CMH, CMD, or left ventricular noncompaction (see LVNC4, <a href="/entry/613424">613424</a>) for the E101K mutation, and identified the mutation in 4 probands with CMH, 2 of whom were previously studied by <a href="#1" class="mim-tip-reference" title="Arad, M., Penas-Lado, M., Monserrat, L., Maron, B. J., Sherrid, M., Ho, C. Y., Barr, S., Karim, A., Olson, T. M., Kamisago, M., Seidman, J. G., Seidman, C. E. <strong>Gene mutations in apical hypertrophic cardiomyopathy.</strong> Circulation 112: 2805-2811, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16267253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16267253</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.547448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16267253">Arad et al. (2005)</a>, and in 1 proband with LVNC. Of 46 family members with CMH, 23 fulfilled criteria for LVNC, 22 were diagnosed with apical CMH, and 3 had been diagnosed with restrictive cardiomyopathy. Septal defects were identified in 9 mutation carriers from 4 families (8 atrial defects and 1 ventricular), and were absent in relatives without the mutation. <a href="#19" class="mim-tip-reference" title="Monserrat, L., Hermida-Prieto, M., Fernandez, X., Rodriguez, I., Dumont, C., Cazon, L., Cuesta, M. G., Gonzalez-Juanatey, C., Peteiro, J., Alvarez, N., Penas-Lado, M., Castro-Beiras, A. <strong>Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.</strong> Europ. Heart J. 28: 1953-1961, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17611253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17611253</a>] [<a href="https://doi.org/10.1093/eurheartj/ehm239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17611253">Monserrat et al. (2007)</a> concluded that LVNC and CMH may appear as overlapping entities, and that E101K should be considered in the genetic diagnosis of LVNC, apical CMH, and septal defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17611253+16267253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated children with idiopathic cardiac hypertrophy and presumed sporadic cardiomyopathy, <a href="#20" class="mim-tip-reference" title="Morita, H., Rehm, H. L., Menesses, A., McDonough, B., Roberts, A. E., Kucherlapati, R., Towbin, J. A., Seidman, J. G., Seidman, C. E. <strong>Shared genetic causes of cardiac hypertrophy in children and adults.</strong> New Eng. J. Med. 358: 1899-1908, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18403758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18403758</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18403758[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/10.1056/NEJMoa075463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18403758">Morita et al. (2008)</a> identified 2 different missense mutations in the ACTC1 gene (see, e.g., <a href="#0004">102540.0004</a>); 1 of the children also carried a missense mutation in the MYH7 gene (<a href="/entry/160760">160760</a>), which is known to cause CMH1 (<a href="/entry/192600">192600</a>). The parents were not studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18403758" 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>Left Ventricular Noncompaction 4</em></strong></p><p>
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<a href="#13" class="mim-tip-reference" title="Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Hurlimann, D., Yegibasi, M., Pons, L., Gramlich, M., Drenckhahn, J.-D., Heuser, A., Berger, F., Jenni, R., Thierfelder, L. <strong>Mutations in sarcomere protein genes in left ventricular noncompaction.</strong> Circulation 117: 2893-2901, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18506004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18506004</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.107.746164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18506004">Klaassen et al. (2008)</a> analyzed 6 sarcomere protein genes in 63 unrelated adult probands with left ventricular noncompaction (see LVNC4; <a href="/entry/613424">613424</a>) and no other congenital heart anomalies and identified the E101K mutation in the ACTC1 gene in 2 probands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18506004" 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 5</em></strong></p><p>
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<a href="#16" class="mim-tip-reference" title="Matsson, H., Eason, J., Bookwalter, C. S., Klar, J., Gustavsson, P., Sunnegardh, J., Enell, H., Jonzon, A., Vikkula, M., Gutierrez, I., Granados-Riveron, J., Pope, M., Bu'Lock, F., Cox, J., Robinson, T. E., Song, F., Brook, D. J., Marston, S., Trybus, K. M., Dahl, N. <strong>Alpha-cardiac actin mutations produce atrial septal defects.</strong> Hum. Molec. Genet. 17: 256-265, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17947298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17947298</a>] [<a href="https://doi.org/10.1093/hmg/ddm302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17947298">Matsson et al. (2008)</a> analyzed the ACTC1 gene in 2 large Swedish families segregating autosomal dominant secundum atrial septal defect (ASD5; <a href="/entry/612794">612794</a>) and identified heterozygosity for a mutation (M123V; <a href="#0005">102540.0005</a>) in the 20 available affected individuals. The authors studied 408 additional individuals referred for sporadic congenital heart disease and identified a 17-bp deletion (<a href="#0006">102540.0006</a>) in the ACTC1 gene in a 10-year-old girl with secundum ASD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17947298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>9 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=102540[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>In a 36-year-old mother and 2 daughters, aged 5 and 2 years, of German ancestry who had dilated cardiomyopathy (CMD1R; <a href="/entry/613424">613424</a>), <a href="#22" class="mim-tip-reference" title="Olson, T. M., Michels, V. V., Thibodeau, S. N., Tai, Y.-S., Keating, M. T. <strong>Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.</strong> Science 280: 750-752, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9563954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9563954</a>] [<a href="https://doi.org/10.1126/science.280.5364.750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9563954">Olson et al. (1998)</a> found a G-to-A substitution in codon 312 in exon 5 of the ACTC gene, resulting in an arg312-to-his (R312H) amino acid substitution. A 15-year-old son likewise had inherited the mutation but had not developed dilated cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9563954" 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">rs121912674 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912674;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=rs121912674" 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=rs121912674" 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=RCV000019989 OR RCV002513128 OR RCV004808554" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019989, RCV002513128, RCV004808554" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019989...</a>
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<p>In a family of Swedish Norwegian ancestry, <a href="#22" class="mim-tip-reference" title="Olson, T. M., Michels, V. V., Thibodeau, S. N., Tai, Y.-S., Keating, M. T. <strong>Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.</strong> Science 280: 750-752, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9563954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9563954</a>] [<a href="https://doi.org/10.1126/science.280.5364.750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9563954">Olson et al. (1998)</a> found that a father and son, aged 41 and 14 years, respectively, with dilated cardiomyopathy-1R (CMD1R; <a href="/entry/613424">613424</a>) carried a GAG (glu)-to-GGG (gly) mutation in codon 361 in exon 6 of the ACTC gene. In addition, a 34-year-old woman with a dilated heart and a 9-year-old with borderline heart size also had inherited the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9563954" 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">rs121912675 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912675;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=rs121912675" 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=rs121912675" 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=RCV000019990 OR RCV001380614" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019990, RCV001380614" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019990...</a>
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<p>In a 3-generation family with autosomal dominant hypertrophic cardiomyopathy (CMH11; <a href="/entry/612098">612098</a>), <a href="#18" class="mim-tip-reference" title="Mogensen, J., Klausen, I. C., Pedersen, A. K., Egeblad, H., Bross, P., Kruse, T. A., Gregersen, N., Hansen, P. S., Baandrup, U., Borglum, A. D. <strong>Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.</strong> J. Clin. Invest. 103: R39-R43, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330430</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10330430[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/10.1172/JCI6460" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10330430">Mogensen et al. (1999)</a> identified a 253G-T transversion in exon 5 of the ACTC gene resulting in an ala295-to-ser substitution. The ala at position 295 is conserved in 19 different species. The expression of the actin mutation in this family gave the impression of a highly penetrant disease with diverse phenotypes and variable age of onset. Only 1 individual of 13 family members carrying the mutant allele was nonpenetrant, and morbidity was low, as only 3 of the 13 carrying the mutant allele had symptoms of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10330430" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11</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> rs121912676 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912676;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/rs121912676?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=rs121912676" 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=rs121912676" 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=RCV000019991 OR RCV000038323 OR RCV000697168 OR RCV003996111 OR RCV004018647 OR RCV004589518" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019991, RCV000038323, RCV000697168, RCV003996111, RCV004018647, RCV004589518" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019991...</a>
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<p>In a child with idiopathic cardiac hypertrophy and presumed sporadic cardiomyopathy (CMH11; <a href="/entry/612098">612098</a>) who was negative for mutation in 9 of the known CMH genes, <a href="#20" class="mim-tip-reference" title="Morita, H., Rehm, H. L., Menesses, A., McDonough, B., Roberts, A. E., Kucherlapati, R., Towbin, J. A., Seidman, J. G., Seidman, C. E. <strong>Shared genetic causes of cardiac hypertrophy in children and adults.</strong> New Eng. J. Med. 358: 1899-1908, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18403758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18403758</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18403758[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/10.1056/NEJMoa075463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18403758">Morita et al. (2008)</a> identified a heterozygous C-to-T transition in the ACTC1 gene resulting in a his90-to-tyr (H90Y) substitution. The parents were not studied. The mutation was not found in unrelated individuals matched by ancestral origin or in more than 1,000 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18403758" 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 ATRIAL SEPTAL DEFECT 5</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">rs121912677 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912677;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=rs121912677" 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=rs121912677" 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=RCV000019992" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019992" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019992</a>
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<p>In 20 affected individuals from 2 Swedish families segregating autosomal dominant atrial septal defect (ASD5; <a href="/entry/612794">612794</a>), <a href="#16" class="mim-tip-reference" title="Matsson, H., Eason, J., Bookwalter, C. S., Klar, J., Gustavsson, P., Sunnegardh, J., Enell, H., Jonzon, A., Vikkula, M., Gutierrez, I., Granados-Riveron, J., Pope, M., Bu'Lock, F., Cox, J., Robinson, T. E., Song, F., Brook, D. J., Marston, S., Trybus, K. M., Dahl, N. <strong>Alpha-cardiac actin mutations produce atrial septal defects.</strong> Hum. Molec. Genet. 17: 256-265, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17947298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17947298</a>] [<a href="https://doi.org/10.1093/hmg/ddm302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17947298">Matsson et al. (2008)</a> identified heterozygosity for a 373A-G transition in exon 2 of the ACTC1 gene, predicted to result in a met123-to-val (M123V) substitution. Functional analysis of the M123V-mutant protein showed a reduced affinity for myosin, but retention of actin filament polymerization and actomyosin motor properties. The mutation was not found in 580 control samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17947298" 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 ATRIAL SEPTAL DEFECT 5</strong>
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ACTC1, 17-BP DEL, NT251
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906585 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906585;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=rs387906585" 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=rs387906585" 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=RCV000019993" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019993" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019993</a>
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<p>In a 10-year-old girl with a secundum atrial septal defect (ASD5; <a href="/entry/612794">612794</a>), <a href="#16" class="mim-tip-reference" title="Matsson, H., Eason, J., Bookwalter, C. S., Klar, J., Gustavsson, P., Sunnegardh, J., Enell, H., Jonzon, A., Vikkula, M., Gutierrez, I., Granados-Riveron, J., Pope, M., Bu'Lock, F., Cox, J., Robinson, T. E., Song, F., Brook, D. J., Marston, S., Trybus, K. M., Dahl, N. <strong>Alpha-cardiac actin mutations produce atrial septal defects.</strong> Hum. Molec. Genet. 17: 256-265, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17947298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17947298</a>] [<a href="https://doi.org/10.1093/hmg/ddm302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17947298">Matsson et al. (2008)</a> identified heterozygosity for a 17-bp deletion beginning at nucleotide 251 in exon 2 of the ACTC1 gene, predicted to result in a severely truncated protein of 86 amino acids in length. The mutation was also identified in her clinically unaffected 43-year-old father, who was found to have an abnormal echocardiogram with a posteriorly deviated interventricular septum, believed to be associated with a spontaneously closed perimembranous ventricular septal defect, causing aortic valve regurgitation. The deletion was not found in 580 control samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17947298" 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, FAMILIAL HYPERTROPHIC, 11</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">rs267606629 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606629;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=rs267606629" 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=rs267606629" 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=RCV000019994 OR RCV001040562" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019994, RCV001040562" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019994...</a>
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<p>In a 21-year-old man with hypertrophic cardiomyopathy (CMH11; <a href="/entry/612098">612098</a>), <a href="#21" class="mim-tip-reference" title="Olson, T. M., Doan, T. P., Kishimoto, N. Y., Whitby, F. G., Ackerman, M. J., Fananapazir, L. <strong>Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.</strong> J. Molec. Cell Cardiol. 32: 1687-1694, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10966831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10966831</a>] [<a href="https://doi.org/10.1006/jmcc.2000.1204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10966831">Olson et al. (2000)</a> identified heterozygosity for a G-C transversion in exon 6 of the ACTC1 gene, resulting in an ala331-to-pro (A331P) substitution at a highly conserved residue. The patient presented at 8 years of age with 2 near-syncopal episodes and was diagnosed with idiopathic CMH. At 10 years of age, he was resuscitated from ventricular fibrillation that occurred while running, and a defibrillator was placed. Cardiac evaluation revealed hypertrophy of the septum and left ventricular apex. His unaffected parents did not carry the mutation, nor was it found in 150 unrelated controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10966831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<strong>.0008 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11</strong>
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ACTC1, PRO164ALA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606628 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606628;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=rs267606628" 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=rs267606628" 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=RCV000019995 OR RCV003362662" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019995, RCV003362662" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019995...</a>
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<p>In a 12-year-old boy with hypertrophic cardiomyopathy-11 (CMH11; <a href="/entry/612098">612098</a>), <a href="#21" class="mim-tip-reference" title="Olson, T. M., Doan, T. P., Kishimoto, N. Y., Whitby, F. G., Ackerman, M. J., Fananapazir, L. <strong>Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.</strong> J. Molec. Cell Cardiol. 32: 1687-1694, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10966831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10966831</a>] [<a href="https://doi.org/10.1006/jmcc.2000.1204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10966831">Olson et al. (2000)</a> identified heterozygosity for a C-G transversion in exon 2 of the ACTC1 gene, resulting in a pro164-to-ala (P164A) substitution at a highly conserved residue. The patient was diagnosed with CMH at 17 months of age due to syncopal episodes. He later had occasional episodes of chest pain, dyspnea, and near-syncope, and underwent insertion of a pacemaker. Cardiac evaluation revealed hypertrophy of the septum and left ventricular apex. His unaffected parents did not carry the mutation, nor was it found in 150 unrelated controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10966831" 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>.0009 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11</strong>
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LEFT VENTRICULAR NONCOMPACTION 4, INCLUDED
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs193922680 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs193922680;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/rs193922680?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=rs193922680" 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=rs193922680" 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=RCV000019996 OR RCV000019997 OR RCV000029295 OR RCV000157780 OR RCV000684792 OR RCV000769471 OR RCV000844601 OR RCV001807736 OR RCV002433462" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019996, RCV000019997, RCV000029295, RCV000157780, RCV000684792, RCV000769471, RCV000844601, RCV001807736, RCV002433462" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019996...</a>
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<p>Using a new numbering system, <a href="#1" class="mim-tip-reference" title="Arad, M., Penas-Lado, M., Monserrat, L., Maron, B. J., Sherrid, M., Ho, C. Y., Barr, S., Karim, A., Olson, T. M., Kamisago, M., Seidman, J. G., Seidman, C. E. <strong>Gene mutations in apical hypertrophic cardiomyopathy.</strong> Circulation 112: 2805-2811, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16267253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16267253</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.547448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16267253">Arad et al. (2005)</a> designated this mutation GLU101LYS (E101K). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16267253" 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 7 affected members of a 4-generation family segregating autosomal dominant hypertrophic cardiomyopathy (CMH11; <a href="/entry/612098">612098</a>), <a href="#21" class="mim-tip-reference" title="Olson, T. M., Doan, T. P., Kishimoto, N. Y., Whitby, F. G., Ackerman, M. J., Fananapazir, L. <strong>Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.</strong> J. Molec. Cell Cardiol. 32: 1687-1694, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10966831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10966831</a>] [<a href="https://doi.org/10.1006/jmcc.2000.1204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10966831">Olson et al. (2000)</a> identified heterozygosity for a G-A transition in exon 2 of the ACTC1 gene, resulting in a glu99-to-lys (GLU99LYS) substitution at a highly conserved residue. Apical left ventricular hypertrophy was present in 5 cases and a trabeculated apex in 2 cases; 2 individuals also had marked hypertrophy of the interventricular septum without left ventricular outflow obstruction, and 1 had an atrial septal defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10966831" 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 affected members of 2 families segregating autosomal dominant apical CMH over 3 generations, <a href="#1" class="mim-tip-reference" title="Arad, M., Penas-Lado, M., Monserrat, L., Maron, B. J., Sherrid, M., Ho, C. Y., Barr, S., Karim, A., Olson, T. M., Kamisago, M., Seidman, J. G., Seidman, C. E. <strong>Gene mutations in apical hypertrophic cardiomyopathy.</strong> Circulation 112: 2805-2811, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16267253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16267253</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.547448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16267253">Arad et al. (2005)</a> identified heterozygosity for the E101K mutation in the ACTC1 gene. A shared haplotype was also identified, providing odds greater than 100:1 that E101K represents a founding mutation in the 2 families; however, haplotype data indicated that E101K arose independently in the family reported by <a href="#21" class="mim-tip-reference" title="Olson, T. M., Doan, T. P., Kishimoto, N. Y., Whitby, F. G., Ackerman, M. J., Fananapazir, L. <strong>Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.</strong> J. Molec. Cell Cardiol. 32: 1687-1694, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10966831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10966831</a>] [<a href="https://doi.org/10.1006/jmcc.2000.1204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10966831">Olson et al. (2000)</a>. Of 18 mutation-positive individuals studied by <a href="#1" class="mim-tip-reference" title="Arad, M., Penas-Lado, M., Monserrat, L., Maron, B. J., Sherrid, M., Ho, C. Y., Barr, S., Karim, A., Olson, T. M., Kamisago, M., Seidman, J. G., Seidman, C. E. <strong>Gene mutations in apical hypertrophic cardiomyopathy.</strong> Circulation 112: 2805-2811, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16267253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16267253</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.547448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16267253">Arad et al. (2005)</a>, 2 individuals, ages 10 and 29 years, had no clinical evidence of cardiomyopathy. Isolated apical hypertrophy was found in 5 individuals; 11 others also had mild thickening of the basal segments and/or involvement of the midventricular segment, and 2 also had trabeculation of the apex. Right ventricular endomyocardial biopsy in 1 patient revealed myocyte hypertrophy and disarray with extensive replacement fibrosis that was more marked than that typically seen in CMH associated with other morphologic patterns of hypertrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10966831+16267253" 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="#19" class="mim-tip-reference" title="Monserrat, L., Hermida-Prieto, M., Fernandez, X., Rodriguez, I., Dumont, C., Cazon, L., Cuesta, M. G., Gonzalez-Juanatey, C., Peteiro, J., Alvarez, N., Penas-Lado, M., Castro-Beiras, A. <strong>Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.</strong> Europ. Heart J. 28: 1953-1961, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17611253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17611253</a>] [<a href="https://doi.org/10.1093/eurheartj/ehm239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17611253">Monserrat et al. (2007)</a> screened 247 probands with CMH, dilated cardiomyopathy (CMD), or left ventricular noncompaction (see LVNC4, <a href="/entry/613424">613424</a>) for the E101K mutation, and identified the mutation in 4 probands with CMH and 1 with LVNC. The 5 mutation-positive families, 2 of which were previously studied by <a href="#1" class="mim-tip-reference" title="Arad, M., Penas-Lado, M., Monserrat, L., Maron, B. J., Sherrid, M., Ho, C. Y., Barr, S., Karim, A., Olson, T. M., Kamisago, M., Seidman, J. G., Seidman, C. E. <strong>Gene mutations in apical hypertrophic cardiomyopathy.</strong> Circulation 112: 2805-2811, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16267253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16267253</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.547448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16267253">Arad et al. (2005)</a>, were all from the same local area in Galicia, Spain, and shared the same 88-bp allele of the intragenic ACTC1 microsatellite marker that cosegregated with disease in the families, suggesting a likely founder effect. Of 46 family members with CMH, 23 fulfilled criteria for LVNC, 22 were diagnosed with apical CMH, and 3 had been diagnosed with restrictive cardiomyopathy. Septal defects were identified in 9 mutation carriers from 4 families (8 atrial defects and 1 ventricular), and were absent in relatives without the mutation. The E101K mutation was not found in 48 unaffected family members. <a href="#19" class="mim-tip-reference" title="Monserrat, L., Hermida-Prieto, M., Fernandez, X., Rodriguez, I., Dumont, C., Cazon, L., Cuesta, M. G., Gonzalez-Juanatey, C., Peteiro, J., Alvarez, N., Penas-Lado, M., Castro-Beiras, A. <strong>Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.</strong> Europ. Heart J. 28: 1953-1961, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17611253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17611253</a>] [<a href="https://doi.org/10.1093/eurheartj/ehm239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17611253">Monserrat et al. (2007)</a> concluded that LVNC and CMH may appear as overlapping entities, and that E101K should be considered in the genetic diagnosis of LVNC, apical CMH, and septal defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17611253+16267253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 15-year-old girl and an unrelated 38-year-old woman with LVNC, <a href="#13" class="mim-tip-reference" title="Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Hurlimann, D., Yegibasi, M., Pons, L., Gramlich, M., Drenckhahn, J.-D., Heuser, A., Berger, F., Jenni, R., Thierfelder, L. <strong>Mutations in sarcomere protein genes in left ventricular noncompaction.</strong> Circulation 117: 2893-2901, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18506004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18506004</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.107.746164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18506004">Klaassen et al. (2008)</a> identified heterozygosity for the E101K mutation in the ACTC1 gene. Both had inherited the mutation from their affected fathers; haplotype analysis excluded a common ancestor. All 4 patients had noncompaction of the apex and midventricular wall and no other congenital cardiac anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18506004" 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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Arad, M., Penas-Lado, M., Monserrat, L., Maron, B. J., Sherrid, M., Ho, C. Y., Barr, S., Karim, A., Olson, T. M., Kamisago, M., Seidman, J. G., Seidman, C. E.
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<strong>Gene mutations in apical hypertrophic cardiomyopathy.</strong>
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Circulation 112: 2805-2811, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16267253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16267253</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16267253" 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.105.547448" target="_blank">Full Text</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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Crosby, J. L., Phillips, S. J., Nadeau, J. H.
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<strong>The cardiac actin locus (Actc-1) is not on mouse chromosome 17 but is linked to beta-2-microglobulin on chromosome 2.</strong>
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Genomics 5: 19-23, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2570027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2570027</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2570027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Czosnek, H., Nudel, U., Mayer, Y., Barker, P. E., Pravtcheva, D. D., Ruddle, F. H., Yaffe, D.
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<strong>The genes coding for the cardiac muscle actin, the skeletal muscle actin and the cytoplasmic beta-actin are located on three different mouse chromosomes.</strong>
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EMBO J. 2: 1977-1979, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6641707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6641707</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6641707" 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/j.1460-2075.1983.tb01687.x" target="_blank">Full Text</a>]
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Elzinga, M., Maron, B. J., Adelstein, R. S.
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<strong>Human heart and platelet actins are products of different genes.</strong>
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Science 191: 94-95, 1976.
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[<a href="https://doi.org/10.1126/science.1246600" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.81.6.1813" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.79.19.5901" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/nar/9.19.4895" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1161/CIRCULATIONAHA.107.746164" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddm302" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.36.10.796" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/eurheartj/ehm239" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/jmcc.2000.1204" target="_blank">Full Text</a>]
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Olson, T. M., Michels, V. V., Thibodeau, S. N., Tai, Y.-S., Keating, M. T.
|
|
<strong>Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.</strong>
|
|
Science 280: 750-752, 1998.
|
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9563954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9563954</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9563954" 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.280.5364.750" 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="23" class="mim-anchor"></a>
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|
<a id="Schwartz1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schwartz, K., de la Bastie, D., Bouveret, P., Oliviero, P., Alonso, S., Buckingham, M.
|
|
<strong>Alpha-skeletal muscle actin mRNAs accumulate in hypertrophied adult rat hearts.</strong>
|
|
Circulation Res. 59: 551-555, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2948733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2948733</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2948733" 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/10.1161/01.res.59.5.551" 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="24" class="mim-anchor"></a>
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<a id="Shows1984" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Shows, T., Eddy, R. L., Haley, L., Byers, M., Henry, M., Gunning, P., Ponte, P., Kedes, L.
|
|
<strong>The coexpressed genes for human alpha (ACTA) and cardiac actin (ACTC) are on chromosomes 1 and 15, respectively. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 37: 583 only, 1984.
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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="25" class="mim-anchor"></a>
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<a id="Takai1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Takai, E., Akita, H., Shiga, N., Kanazawa, K., Yamada, S., Terashima, M., Matsuda, Y., Iwai, C., Kawai, K., Yokota, Y., Yokoyama, M.
|
|
<strong>Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy.</strong>
|
|
Am. J. Med. Genet. 86: 325-327, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10494087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10494087</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10494087" 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/(sici)1096-8628(19991008)86:4<325::aid-ajmg5>3.0.co;2-u" 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="26" class="mim-anchor"></a>
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<a id="Ueyama1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Ueyama, H., Inazawa, J., Ariyama, T., Nishino, H., Ochiai, Y., Ohkubo, I., Miwa, T.
|
|
<strong>Reexamination of chromosomal loci of human muscle actin genes by fluorescence in situ hybridization.</strong>
|
|
Jpn. J. Hum. Genet. 40: 145-148, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7780165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7780165</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7780165" 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/10.1007/BF01874078" 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="27" class="mim-anchor"></a>
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<a id="Weber1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weber, J. L., May, P. E.
|
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<strong>Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.</strong>
|
|
Am. J. Hum. Genet. 44: 388-396, 1989.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2916582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2916582</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2916582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="28" class="mim-anchor"></a>
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<a id="Weydert1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weydert, A., Robert, B., Alonso, S., Caravatti, M., Cohen, A., Daubas, P., Minty, A., Buckingham, M.
|
|
<strong>Multigene families of contractile proteins: the actins and myosins. (Abstract)</strong>
|
|
Sixth International Congress of Human Genetics, Jerusalem 1981. P. 39.
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 03/04/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 06/07/2010<br>Marla J. F. O'Neill - updated : 5/4/2009<br>Marla J. F. O'Neill - updated : 6/4/2008<br>Ada Hamosh - updated : 3/17/2000<br>Michael J. Wright - updated : 2/4/2000<br>Victor A. McKusick - updated : 10/28/1999<br>Victor A. McKusick - updated : 4/28/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Victor A. McKusick : 6/4/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 10/24/2024
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/10/2023<br>mgross : 05/11/2021<br>mgross : 03/04/2021<br>carol : 10/06/2016<br>carol : 06/07/2010<br>wwang : 5/20/2009<br>terry : 5/4/2009<br>carol : 6/5/2008<br>carol : 6/4/2008<br>terry : 6/4/2008<br>carol : 11/20/2007<br>carol : 9/10/2007<br>carol : 9/10/2007<br>wwang : 2/23/2006<br>alopez : 3/22/2000<br>terry : 3/17/2000<br>alopez : 2/4/2000<br>carol : 11/4/1999<br>carol : 11/4/1999<br>terry : 10/28/1999<br>carol : 3/22/1999<br>alopez : 4/28/1998<br>terry : 4/28/1998<br>carol : 6/20/1997<br>mark : 11/27/1996<br>terry : 6/16/1995<br>carol : 11/18/1994<br>carol : 10/13/1993<br>carol : 8/25/1992<br>carol : 6/29/1992<br>carol : 3/20/1992
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
|
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<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 102540
|
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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>
|
|
<span class="mim-font">
|
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|
|
ACTIN, ALPHA, CARDIAC MUSCLE; ACTC1
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|
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</span>
|
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</h3>
|
|
</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">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
ACTC<br />
|
|
SMOOTH MUSCLE ACTIN<br />
|
|
ACTIN, ALPHA
|
|
</span>
|
|
</h4>
|
|
</div>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: ACTC1</em></strong>
|
|
</span>
|
|
</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">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 15q14
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 15:34,790,230-34,795,549 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="4">
|
|
<span class="mim-font">
|
|
15q14
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Atrial septal defect 5
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
612794
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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</tr>
|
|
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|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Cardiomyopathy, dilated, 1R
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
613424
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Cardiomyopathy, hypertrophic, 11
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
612098
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Left ventricular noncompaction 4
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
613424
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>ACTC1 is the major component of cardiac sarcomeric thin filaments and is essential for cardiac muscle contraction (summary by Matsson et al., 2008). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Because actin is a highly conserved protein, Engel et al. (1981) could use cloned actin genes from Drosophila and from chicken to isolate 12 actin gene fragments from a human DNA library. Restriction endonuclease studies of each indicated that they are not allelic and are from nonoverlapping regions of the genome. In all, 25 to 30 EcoRI fragments homologous to actin genes were found in the human genome and no restriction site polymorphism was found indicating evolutionary conservatism. </p><p>Humphries et al. (1981) used probes from the mouse to detect actin genes in human DNA and concluded that there are about 20 actin genes in the human genome. Three lines of evidence supported this number: the rate of hybridization of the mouse probe with human DNA; the fact that the probe hybridizes to 17-20 bands in Southern blots of restriction enzyme digests of total human DNA; restriction enzyme mapping of individual human actin genes indicating at least 9 different genes, judged on probability grounds to have been picked from a pool of at least 20. </p><p>Hamada et al. (1982) isolated and characterized the human cardiac actin gene. The cardiac and skeletal actin genes showed close similarity, suggesting a relatively recent derivation from a common ancestral gene. Nucleotide sequences of all exon/intron boundaries agreed with the GT/AG rule (GT at the 5-prime and AG at the 3-prime termini of each intron). Gunning et al. (1984) noted that the cardiac actin gene and the skeletal actin gene (102610) on chromosome 1 are coexpressed in both skeletal and heart muscle. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using a cDNA fragment from an exon of the human cardiac actin gene in somatic hybrid cell studies, Shows et al. (1984) showed that the gene is coded by the segment 15q11-qter. Crosby et al. (1989) showed that in the mouse the cardiac actin gene (Actc-1) is not on chromosome 17 as previously reported (Czosnek et al., 1983) but is located on chromosome 2. It is closely linked to beta-2-microglobulin as indicated by mapping studies using restriction fragment variants in recombinant inbred strains. Using a highly polymorphic CA repeat microsatellite within intron 4 of the ACTC gene, Kramer et al. (1992) did family linkage studies with multiple markers on 15q, thus permitting the gene to be placed on the chromosome linkage map. They demonstrated that it lies about 0.06 cM proximal to D15S49, which is about 0.05 cM proximal to D15S25, which in turn is about 0.07 cM proximal to D15S1; D15S1 is tightly linked to the Marfan syndrome and to fibrillin. Thus ACTC may be about 0.18 cM proximal to the fibrillin locus and no more distal than 15q21.1. </p><p>By fluorescence in situ hybridization, Ueyama et al. (1995) assigned the ACTC1 gene to chromosome 15q14. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Actin has been identified in many kinds of cells including muscle, where it is a major constituent of the thin filament, and platelets. Muscle actins from sources as diverse as rabbits and fish are very similar in amino acid sequence. Elzinga et al. (1976) examined whether actin in different tissues of the same organism are products of the same gene. They found that human platelet and human cardiac actins differ by one amino acid, viz., threonine and valine, respectively, at position 129. Thus they must be determined by different genes. Actins can be separated by isoelectric focusing into 3 main groups which show more than 90% homology of amino acid sequence. Firtel (1981) referred to the actin of smooth muscle, the most acidic form, as alpha type and the 2 cytoplasmic forms as beta and gamma. Beta and gamma actins are involved in the cytoskeleton and in internal cell mobility phenomena. </p><p>The actins constitute multiple gene families. There is only a 4% amino acid difference in the actins of Physarum and mammals. In mammals, 4 different muscle actins have been sequenced: from fast muscle, heart, aorta, and stomach. These vary only by 4 to 6 amino acids from each other, and by about 25 amino acids from the beta and gamma actins. Thus, from the protein data, at least 6 actin genes would be expected in mammals. Recombinant DNA probes for both actin and myosin of the mouse have been made (Weydert et al., 1981).</p><p>Buckingham et al. (1986) provided a summary of the actin and myosin multigene families in mouse and man. Certain inbred mouse lines, e.g., BALB/c, have a mutant cardiac actin locus (Garner et al., 1986). The first 3 coding exons and promoter region of the gene are present as a duplication immediately upstream from the cardiac actin gene. The upstream promoter is active, and partial gene transcripts are generated which are correctly spliced for the first 3 coding exons but which terminate at cryptic sites in the region between the duplication and the gene. Transcriptional activity at the upstream promoter interferes with the downstream promoter of the bona fide cardiac actin gene, leading to a 5- to 6-fold reduction in cardiac actin mRNA in the hearts of BALB/c mice. In this situation there is an accumulation of skeletal actin gene transcripts in the adult hearts of these mice, which partially compensates for the reduction in cardiac actin transcripts. BALB/c mice have a normal life span and their hearts do not undergo hypertrophy. Apparently, cardiac and skeletal actins, which differ only by 4 out of 375 amino acids, are to some extent interchangeable. Schwartz et al. (1986) found that under conditions of aortic stenosis leading to cardiac overload and cardiac hypertrophy, skeletal actin gene transcripts are found in adult rodent hearts in addition to the cardiac actin gene products normally present. </p><p>Matsson et al. (2008) performed morpholino knockdown of the Actc1 gene in chick embryos and found significant association with delayed looping and reduced atrial septa, supporting a developmental role for the protein. </p><p>Fintha et al. (2013) showed that overexpression of mouse Scai (619222) prevented alpha smooth muscle actin (Sma) promoter activation and protein expression induced by Tgf-beta-1 (190180) in mouse LLC-PK1 cells. Coexpression of Scai inhibited the stimulatory effects of Mrtfa (606078), Mrtfb (609463), and the constitutive active forms of Rhoa (165390), Rac1 (602048), and Cdc42 (116952) on the Sma promoter. These inhibitory effects of Scai were dependent on CArG boxes in the Sma promoter. Immunohistochemical analysis revealed reduced SCAI expression during fibrosis in human kidney. Similarly, Scai expression was significantly lost in kidneys of diabetic rats and mice with unilateral ureteral obstruction, resulting in robust expression of Sma. </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>Litt and Luty (1989) used PCR to amplify a microsatellite hypervariable repeat in the human cardiac actin gene. They detected 12 different allelic fragments in 37 unrelated individuals, of whom 32 were heterozygous. </p><p>(Weber and May (1989) also found that (GT)n repeats within human loci are highly polymorphic.) In vertebrates, 6 actin isoforms are known: 4 muscle types (skeletal, cardiac, and 2 smooth muscle types) and 2 nonmuscle types (cytoplasmic actins). </p><p><strong><em>Dilated Cardiomyopathy 1R</em></strong></p><p>
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To test the hypothesis that actin dysfunction leads to heart failure, Olson et al. (1998) examined patients with hereditary idiopathic dilated cardiomyopathy (see 115200) for mutations in the cardiac ACTC gene. Missense mutations in ACTC (102540.0001 and 102540.0002) that cosegregated with a form of dilated cardiomyopathy, here designated CMD1R (613424), were identified in 2 unrelated families, respectively. Both mutations affected universally conserved amino acids in domains of actin that attached to Z bands and intercalated discs. Coupled with previous data showing that dystrophin mutations also cause dilated cardiomyopathy, these results raised the possibility that defective transmission of force in cardiac myocytes is a mechanism underlying heart failure. </p><p>To determine how frequently mutations in the ACTC gene are responsible for dilated cardiomyopathy, Takai et al. (1999) studied 136 Japanese cases of this disorder. Although several polymorphisms were found, no disease-causing changes were identified, leading Takai et al. (1999) to conclude that mutation in the ACTC gene is a rare cause of dilated cardiomyopathy, at least in Japanese patients. </p><p>Mayosi et al. (1999) studied 57 South African patients with dilated cardiomyopathy, 56% of whom were of black African origin. No mutation predicted to produce an alteration in protein was identified in either the skeletal or cardiac actin genes in any patient. </p><p><strong><em>Hypertrophic Cardiomyopathy 11</em></strong></p><p>
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In a large 3-generation family with hypertrophic cardiomyopathy (CMH11; 612098), Mogensen et al. (1999) identified heterozygosity for a missense mutation in the ACTC1 gene (A295S; 102540.0003) that was located near 2 missense mutations previously identified as causing an inherited form of dilated cardiomyopathy (CMD1R). The authors stated that ACTC1 was the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies, and hypothesized that ACTC1 mutations affecting sarcomere contraction lead to HCM and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to dilated cardiomyopathy. </p><p>Olson et al. (2000) screened the ACTC1 gene in 368 unrelated patients with sporadic or familial CMH and identified 3 different heterozygous mutations in 2 sporadic patients with apical CMH (102540.0007 and 102540.0008, respectively) and in a 4-generation family segregating autosomal dominant CMH (E101K; 102540.0009). None of the mutations was detected in 150 unrelated controls, and each involved a highly conserved residue in ACTC1. The authors noted that these and previously identified CMH-related ACTC1 mutations are likely to affect actin-myosin interaction and force generation; in contrast, CMD-related ACTC1 mutations (e.g., R312H and E361G) are not located in domains interacting with the myosin head, but rather occur in a region of the actin monomer that forms the immobilized end of the actin filament. Olson et al. (2000) concluded that mutations in ACTC1 can cause either CMH or CMD, depending on the functional domain of actin that is affected. </p><p>In affected members of 2 families segregating autosomal dominant apical CMH over 3 generations, Arad et al. (2005) identified heterozygosity for the E101K mutation in the ACTC1 gene. </p><p>Monserrat et al. (2007) screened 247 probands with CMH, CMD, or left ventricular noncompaction (see LVNC4, 613424) for the E101K mutation, and identified the mutation in 4 probands with CMH, 2 of whom were previously studied by Arad et al. (2005), and in 1 proband with LVNC. Of 46 family members with CMH, 23 fulfilled criteria for LVNC, 22 were diagnosed with apical CMH, and 3 had been diagnosed with restrictive cardiomyopathy. Septal defects were identified in 9 mutation carriers from 4 families (8 atrial defects and 1 ventricular), and were absent in relatives without the mutation. Monserrat et al. (2007) concluded that LVNC and CMH may appear as overlapping entities, and that E101K should be considered in the genetic diagnosis of LVNC, apical CMH, and septal defects. </p><p>In 2 unrelated children with idiopathic cardiac hypertrophy and presumed sporadic cardiomyopathy, Morita et al. (2008) identified 2 different missense mutations in the ACTC1 gene (see, e.g., 102540.0004); 1 of the children also carried a missense mutation in the MYH7 gene (160760), which is known to cause CMH1 (192600). The parents were not studied. </p><p><strong><em>Left Ventricular Noncompaction 4</em></strong></p><p>
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Klaassen et al. (2008) analyzed 6 sarcomere protein genes in 63 unrelated adult probands with left ventricular noncompaction (see LVNC4; 613424) and no other congenital heart anomalies and identified the E101K mutation in the ACTC1 gene in 2 probands. </p><p><strong><em>Atrial Septal Defect 5</em></strong></p><p>
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Matsson et al. (2008) analyzed the ACTC1 gene in 2 large Swedish families segregating autosomal dominant secundum atrial septal defect (ASD5; 612794) and identified heterozygosity for a mutation (M123V; 102540.0005) in the 20 available affected individuals. The authors studied 408 additional individuals referred for sporadic congenital heart disease and identified a 17-bp deletion (102540.0006) in the ACTC1 gene in a 10-year-old girl with secundum ASD. </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>9 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 CARDIOMYOPATHY, DILATED, 1R</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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ACTC1, ARG312HIS
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<br />
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SNP: rs121912673,
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gnomAD: rs121912673,
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ClinVar: RCV000019988, RCV000489472, RCV000648300, RCV003996110
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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 36-year-old mother and 2 daughters, aged 5 and 2 years, of German ancestry who had dilated cardiomyopathy (CMD1R; 613424), Olson et al. (1998) found a G-to-A substitution in codon 312 in exon 5 of the ACTC gene, resulting in an arg312-to-his (R312H) amino acid substitution. A 15-year-old son likewise had inherited the mutation but had not developed dilated cardiomyopathy. </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, DILATED, 1R</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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ACTC1, GLU361GLY
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<br />
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SNP: rs121912674,
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ClinVar: RCV000019989, RCV002513128, RCV004808554
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a family of Swedish Norwegian ancestry, Olson et al. (1998) found that a father and son, aged 41 and 14 years, respectively, with dilated cardiomyopathy-1R (CMD1R; 613424) carried a GAG (glu)-to-GGG (gly) mutation in codon 361 in exon 6 of the ACTC gene. In addition, a 34-year-old woman with a dilated heart and a 9-year-old with borderline heart size also had inherited the mutation. </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 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11</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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ACTC1, ALA295SER
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<br />
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SNP: rs121912675,
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ClinVar: RCV000019990, RCV001380614
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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 3-generation family with autosomal dominant hypertrophic cardiomyopathy (CMH11; 612098), Mogensen et al. (1999) identified a 253G-T transversion in exon 5 of the ACTC gene resulting in an ala295-to-ser substitution. The ala at position 295 is conserved in 19 different species. The expression of the actin mutation in this family gave the impression of a highly penetrant disease with diverse phenotypes and variable age of onset. Only 1 individual of 13 family members carrying the mutant allele was nonpenetrant, and morbidity was low, as only 3 of the 13 carrying the mutant allele had symptoms of the disease. </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, 11</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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ACTC1, HIS90TYR
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<br />
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|
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SNP: rs121912676,
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gnomAD: rs121912676,
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|
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ClinVar: RCV000019991, RCV000038323, RCV000697168, RCV003996111, RCV004018647, RCV004589518
|
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a child with idiopathic cardiac hypertrophy and presumed sporadic cardiomyopathy (CMH11; 612098) who was negative for mutation in 9 of the known CMH genes, Morita et al. (2008) identified a heterozygous C-to-T transition in the ACTC1 gene resulting in a his90-to-tyr (H90Y) substitution. The parents were not studied. The mutation was not found in unrelated individuals matched by ancestral origin or in more than 1,000 control chromosomes. </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 ATRIAL SEPTAL DEFECT 5</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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ACTC1, MET123VAL
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<br />
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|
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SNP: rs121912677,
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ClinVar: RCV000019992
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 20 affected individuals from 2 Swedish families segregating autosomal dominant atrial septal defect (ASD5; 612794), Matsson et al. (2008) identified heterozygosity for a 373A-G transition in exon 2 of the ACTC1 gene, predicted to result in a met123-to-val (M123V) substitution. Functional analysis of the M123V-mutant protein showed a reduced affinity for myosin, but retention of actin filament polymerization and actomyosin motor properties. The mutation was not found in 580 control samples. </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">
|
|
<strong>.0006 ATRIAL SEPTAL DEFECT 5</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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ACTC1, 17-BP DEL, NT251
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<br />
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|
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SNP: rs387906585,
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|
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ClinVar: RCV000019993
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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 10-year-old girl with a secundum atrial septal defect (ASD5; 612794), Matsson et al. (2008) identified heterozygosity for a 17-bp deletion beginning at nucleotide 251 in exon 2 of the ACTC1 gene, predicted to result in a severely truncated protein of 86 amino acids in length. The mutation was also identified in her clinically unaffected 43-year-old father, who was found to have an abnormal echocardiogram with a posteriorly deviated interventricular septum, believed to be associated with a spontaneously closed perimembranous ventricular septal defect, causing aortic valve regurgitation. The deletion was not found in 580 control samples. </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>
|
|
<span class="mim-font">
|
|
<strong>.0007 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11</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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ACTC1, ALA331PRO
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<br />
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|
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SNP: rs267606629,
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ClinVar: RCV000019994, RCV001040562
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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 21-year-old man with hypertrophic cardiomyopathy (CMH11; 612098), Olson et al. (2000) identified heterozygosity for a G-C transversion in exon 6 of the ACTC1 gene, resulting in an ala331-to-pro (A331P) substitution at a highly conserved residue. The patient presented at 8 years of age with 2 near-syncopal episodes and was diagnosed with idiopathic CMH. At 10 years of age, he was resuscitated from ventricular fibrillation that occurred while running, and a defibrillator was placed. Cardiac evaluation revealed hypertrophy of the septum and left ventricular apex. His unaffected parents did not carry the mutation, nor was it found in 150 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">
|
|
<strong>.0008 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11</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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ACTC1, PRO164ALA
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<br />
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SNP: rs267606628,
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ClinVar: RCV000019995, RCV003362662
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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 12-year-old boy with hypertrophic cardiomyopathy-11 (CMH11; 612098), Olson et al. (2000) identified heterozygosity for a C-G transversion in exon 2 of the ACTC1 gene, resulting in a pro164-to-ala (P164A) substitution at a highly conserved residue. The patient was diagnosed with CMH at 17 months of age due to syncopal episodes. He later had occasional episodes of chest pain, dyspnea, and near-syncope, and underwent insertion of a pacemaker. Cardiac evaluation revealed hypertrophy of the septum and left ventricular apex. His unaffected parents did not carry the mutation, nor was it found in 150 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>.0009 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11</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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LEFT VENTRICULAR NONCOMPACTION 4, INCLUDED
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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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ACTC1, GLU101LYS
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<br />
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SNP: rs193922680,
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gnomAD: rs193922680,
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ClinVar: RCV000019996, RCV000019997, RCV000029295, RCV000157780, RCV000684792, RCV000769471, RCV000844601, RCV001807736, RCV002433462
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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>Using a new numbering system, Arad et al. (2005) designated this mutation GLU101LYS (E101K). </p><p>In 7 affected members of a 4-generation family segregating autosomal dominant hypertrophic cardiomyopathy (CMH11; 612098), Olson et al. (2000) identified heterozygosity for a G-A transition in exon 2 of the ACTC1 gene, resulting in a glu99-to-lys (GLU99LYS) substitution at a highly conserved residue. Apical left ventricular hypertrophy was present in 5 cases and a trabeculated apex in 2 cases; 2 individuals also had marked hypertrophy of the interventricular septum without left ventricular outflow obstruction, and 1 had an atrial septal defect. </p><p>In affected members of 2 families segregating autosomal dominant apical CMH over 3 generations, Arad et al. (2005) identified heterozygosity for the E101K mutation in the ACTC1 gene. A shared haplotype was also identified, providing odds greater than 100:1 that E101K represents a founding mutation in the 2 families; however, haplotype data indicated that E101K arose independently in the family reported by Olson et al. (2000). Of 18 mutation-positive individuals studied by Arad et al. (2005), 2 individuals, ages 10 and 29 years, had no clinical evidence of cardiomyopathy. Isolated apical hypertrophy was found in 5 individuals; 11 others also had mild thickening of the basal segments and/or involvement of the midventricular segment, and 2 also had trabeculation of the apex. Right ventricular endomyocardial biopsy in 1 patient revealed myocyte hypertrophy and disarray with extensive replacement fibrosis that was more marked than that typically seen in CMH associated with other morphologic patterns of hypertrophy. </p><p>Monserrat et al. (2007) screened 247 probands with CMH, dilated cardiomyopathy (CMD), or left ventricular noncompaction (see LVNC4, 613424) for the E101K mutation, and identified the mutation in 4 probands with CMH and 1 with LVNC. The 5 mutation-positive families, 2 of which were previously studied by Arad et al. (2005), were all from the same local area in Galicia, Spain, and shared the same 88-bp allele of the intragenic ACTC1 microsatellite marker that cosegregated with disease in the families, suggesting a likely founder effect. Of 46 family members with CMH, 23 fulfilled criteria for LVNC, 22 were diagnosed with apical CMH, and 3 had been diagnosed with restrictive cardiomyopathy. Septal defects were identified in 9 mutation carriers from 4 families (8 atrial defects and 1 ventricular), and were absent in relatives without the mutation. The E101K mutation was not found in 48 unaffected family members. Monserrat et al. (2007) concluded that LVNC and CMH may appear as overlapping entities, and that E101K should be considered in the genetic diagnosis of LVNC, apical CMH, and septal defects. </p><p>In a 15-year-old girl and an unrelated 38-year-old woman with LVNC, Klaassen et al. (2008) identified heterozygosity for the E101K mutation in the ACTC1 gene. Both had inherited the mutation from their affected fathers; haplotype analysis excluded a common ancestor. All 4 patients had noncompaction of the apex and midventricular wall and no other congenital cardiac anomalies. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Arad, M., Penas-Lado, M., Monserrat, L., Maron, B. J., Sherrid, M., Ho, C. Y., Barr, S., Karim, A., Olson, T. M., Kamisago, M., Seidman, J. G., Seidman, C. E.
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<strong>Gene mutations in apical hypertrophic cardiomyopathy.</strong>
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Circulation 112: 2805-2811, 2005.
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<li>
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<p class="mim-text-font">
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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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<li>
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<p class="mim-text-font">
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Crosby, J. L., Phillips, S. J., Nadeau, J. H.
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<strong>The cardiac actin locus (Actc-1) is not on mouse chromosome 17 but is linked to beta-2-microglobulin on chromosome 2.</strong>
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Genomics 5: 19-23, 1989.
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[PubMed: 2570027]
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[Full Text: https://doi.org/10.1016/0888-7543(89)90081-5]
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<li>
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<p class="mim-text-font">
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Czosnek, H., Nudel, U., Mayer, Y., Barker, P. E., Pravtcheva, D. D., Ruddle, F. H., Yaffe, D.
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<strong>The genes coding for the cardiac muscle actin, the skeletal muscle actin and the cytoplasmic beta-actin are located on three different mouse chromosomes.</strong>
|
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EMBO J. 2: 1977-1979, 1983.
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[PubMed: 6641707]
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[Full Text: https://doi.org/10.1002/j.1460-2075.1983.tb01687.x]
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</p>
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<li>
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<p class="mim-text-font">
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Elzinga, M., Maron, B. J., Adelstein, R. S.
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<strong>Human heart and platelet actins are products of different genes.</strong>
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Science 191: 94-95, 1976.
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[PubMed: 1246600]
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[Full Text: https://doi.org/10.1126/science.1246600]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Engel, J. N., Gunning, P. W., Kedes, L.
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<strong>Isolation and characterization of human actin genes.</strong>
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Proc. Nat. Acad. Sci. 78: 4674-4678, 1981.
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[PubMed: 6272269]
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[Full Text: https://doi.org/10.1073/pnas.78.8.4674]
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</p>
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<li>
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<p class="mim-text-font">
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Fintha, A., Gasparics, A., Fang, L., Erdei, Z., Hamar, P., Mozes, M. M., Kokeny, G., Rosivall, L., Sebe, A.
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<strong>Characterization and role of SCAI during renal fibrosis and epithelial-to-mesenchymal transition.</strong>
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Am. J. Path. 182: 388-400, 2013.
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[PubMed: 23178076]
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[Full Text: https://doi.org/10.1016/j.ajpath.2012.10.009]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Firtel, R. A.
|
|
<strong>Multigene families encoding actin and tubulin.</strong>
|
|
Cell 24: 6-7, 1981.
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|
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[PubMed: 6894564]
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[Full Text: https://doi.org/10.1016/0092-8674(81)90494-3]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Garner, I., Minty, A. J., Alonso, S., Barton, P. J., Buckingham, M. E.
|
|
<strong>A 5-prime duplication of the alpha-cardiac actin gene in BALB/c mice is associated with abnormal levels of alpha-cardiac and alpha-skeletal actin mRNAs in adult cardiac tissue.</strong>
|
|
EMBO J. 5: 2559-2567, 1986.
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[PubMed: 3023046]
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[Full Text: https://doi.org/10.1002/j.1460-2075.1986.tb04535.x]
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</p>
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<li>
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<p class="mim-text-font">
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|
Gunning, P., Ponte, P., Kedes, L., Eddy, R., Shows, T.
|
|
<strong>Chromosomal location of the co-expressed human skeletal and cardiac actin genes.</strong>
|
|
Proc. Nat. Acad. Sci. 81: 1813-1817, 1984.
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[PubMed: 6584914]
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[Full Text: https://doi.org/10.1073/pnas.81.6.1813]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hamada, H., Petrino, M. G., Kakunaga, T.
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<strong>Molecular structure and evolutionary origin of human cardiac muscle actin gene.</strong>
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Proc. Nat. Acad. Sci. 79: 5901-5905, 1982.
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[PubMed: 6310553]
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[Full Text: https://doi.org/10.1073/pnas.79.19.5901]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Humphries, S. E., Whittall, R., Minty, A., Buckingham, M., Williamson, R.
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<strong>There are approximately 20 actin genes in the human genome.</strong>
|
|
Nucleic Acids Res. 9: 4895-4908, 1981.
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[PubMed: 6273789]
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[Full Text: https://doi.org/10.1093/nar/9.19.4895]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Hurlimann, D., Yegibasi, M., Pons, L., Gramlich, M., Drenckhahn, J.-D., Heuser, A., Berger, F., Jenni, R., Thierfelder, L.
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<strong>Mutations in sarcomere protein genes in left ventricular noncompaction.</strong>
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Circulation 117: 2893-2901, 2008.
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[PubMed: 18506004]
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[Full Text: https://doi.org/10.1161/CIRCULATIONAHA.107.746164]
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</p>
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<li>
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<p class="mim-text-font">
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Kramer, P. L., Luty, J. A., Litt, M.
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<strong>Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q.</strong>
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Genomics 13: 904-905, 1992.
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[PubMed: 1639426]
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[Full Text: https://doi.org/10.1016/0888-7543(92)90185-u]
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<p class="mim-text-font">
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Litt, M., Luty, J. A.
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<strong>A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.</strong>
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Am. J. Hum. Genet. 44: 397-401, 1989.
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[PubMed: 2563634]
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</p>
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<li>
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<p class="mim-text-font">
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Matsson, H., Eason, J., Bookwalter, C. S., Klar, J., Gustavsson, P., Sunnegardh, J., Enell, H., Jonzon, A., Vikkula, M., Gutierrez, I., Granados-Riveron, J., Pope, M., Bu'Lock, F., Cox, J., Robinson, T. E., Song, F., Brook, D. J., Marston, S., Trybus, K. M., Dahl, N.
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<strong>Alpha-cardiac actin mutations produce atrial septal defects.</strong>
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Hum. Molec. Genet. 17: 256-265, 2008.
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[PubMed: 17947298]
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</p>
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<p class="mim-text-font">
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Mayosi, B. M., Khogali, S. S., Zhang, B., Watkins, H.
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<strong>Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy.</strong>
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J. Med. Genet. 36: 796-797, 1999.
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[PubMed: 10528865]
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[Full Text: https://doi.org/10.1136/jmg.36.10.796]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mogensen, J., Klausen, I. C., Pedersen, A. K., Egeblad, H., Bross, P., Kruse, T. A., Gregersen, N., Hansen, P. S., Baandrup, U., Borglum, A. D.
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<strong>Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.</strong>
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J. Clin. Invest. 103: R39-R43, 1999.
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[PubMed: 10330430]
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[Full Text: https://doi.org/10.1172/JCI6460]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Monserrat, L., Hermida-Prieto, M., Fernandez, X., Rodriguez, I., Dumont, C., Cazon, L., Cuesta, M. G., Gonzalez-Juanatey, C., Peteiro, J., Alvarez, N., Penas-Lado, M., Castro-Beiras, A.
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<strong>Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.</strong>
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[PubMed: 17611253]
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[Full Text: https://doi.org/10.1093/eurheartj/ehm239]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Morita, H., Rehm, H. L., Menesses, A., McDonough, B., Roberts, A. E., Kucherlapati, R., Towbin, J. A., Seidman, J. G., Seidman, C. E.
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<strong>Shared genetic causes of cardiac hypertrophy in children and adults.</strong>
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New Eng. J. Med. 358: 1899-1908, 2008.
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[PubMed: 18403758]
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[Full Text: https://doi.org/10.1056/NEJMoa075463]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Olson, T. M., Doan, T. P., Kishimoto, N. Y., Whitby, F. G., Ackerman, M. J., Fananapazir, L.
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<strong>Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.</strong>
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J. Molec. Cell Cardiol. 32: 1687-1694, 2000.
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[PubMed: 10966831]
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[Full Text: https://doi.org/10.1006/jmcc.2000.1204]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Olson, T. M., Michels, V. V., Thibodeau, S. N., Tai, Y.-S., Keating, M. T.
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<strong>Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.</strong>
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Science 280: 750-752, 1998.
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[PubMed: 9563954]
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[Full Text: https://doi.org/10.1126/science.280.5364.750]
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</p>
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<li>
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<p class="mim-text-font">
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Schwartz, K., de la Bastie, D., Bouveret, P., Oliviero, P., Alonso, S., Buckingham, M.
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<strong>Alpha-skeletal muscle actin mRNAs accumulate in hypertrophied adult rat hearts.</strong>
|
|
Circulation Res. 59: 551-555, 1986.
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[PubMed: 2948733]
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[Full Text: https://doi.org/10.1161/01.res.59.5.551]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Shows, T., Eddy, R. L., Haley, L., Byers, M., Henry, M., Gunning, P., Ponte, P., Kedes, L.
|
|
<strong>The coexpressed genes for human alpha (ACTA) and cardiac actin (ACTC) are on chromosomes 1 and 15, respectively. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 37: 583 only, 1984.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Takai, E., Akita, H., Shiga, N., Kanazawa, K., Yamada, S., Terashima, M., Matsuda, Y., Iwai, C., Kawai, K., Yokota, Y., Yokoyama, M.
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|
<strong>Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy.</strong>
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|
Am. J. Med. Genet. 86: 325-327, 1999.
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[PubMed: 10494087]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19991008)86:4<325::aid-ajmg5>3.0.co;2-u]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Ueyama, H., Inazawa, J., Ariyama, T., Nishino, H., Ochiai, Y., Ohkubo, I., Miwa, T.
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<strong>Reexamination of chromosomal loci of human muscle actin genes by fluorescence in situ hybridization.</strong>
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Jpn. J. Hum. Genet. 40: 145-148, 1995.
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[PubMed: 7780165]
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[Full Text: https://doi.org/10.1007/BF01874078]
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Weber, J. L., May, P. E.
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<strong>Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.</strong>
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Am. J. Hum. Genet. 44: 388-396, 1989.
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[PubMed: 2916582]
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Weydert, A., Robert, B., Alonso, S., Caravatti, M., Cohen, A., Daubas, P., Minty, A., Buckingham, M.
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<strong>Multigene families of contractile proteins: the actins and myosins. (Abstract)</strong>
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Sixth International Congress of Human Genetics, Jerusalem 1981. P. 39.
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Bao Lige - updated : 03/04/2021<br>Marla J. F. O'Neill - updated : 06/07/2010<br>Marla J. F. O'Neill - updated : 5/4/2009<br>Marla J. F. O'Neill - updated : 6/4/2008<br>Ada Hamosh - updated : 3/17/2000<br>Michael J. Wright - updated : 2/4/2000<br>Victor A. McKusick - updated : 10/28/1999<br>Victor A. McKusick - updated : 4/28/1998
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Victor A. McKusick : 6/4/1986
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