4632 lines
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Entry
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- *102560 - ACTIN, GAMMA-1; ACTG1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*102560</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li 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/102560">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<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 class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000184009;t=ENST00000573283" 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=71" 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=102560" 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=ENSG00000184009;t=ENST00000573283" 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_001199954,NM_001614,NR_037688" 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_001614" 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=102560" 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=00017&isoform_id=00017_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/ACTG1" 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/28339,178043,178045,4501887,12653055,12804935,13938581,14602652,15012187,15082291,15929094,15990564,16041790,16306948,16924319,17511847,31565757,33870332,40225338,40226101,54036678,54696574,62420908,62420910,62420912,62420914,62420916,62420918,62420920,62420922,62420924,62420926,62420929,62420931,62420933,62420935,62420941,62420943,62420945,62420947,62420985,62420987,62420989,62420991,62420993,62420995,62420997,62420999,62421001,62421003,62421005,62421007,62421009,62421011,62421013,62421015,62421017,62421019,62421021,62421023,62421063,62421067,62421069,62421114,62421116,62421118,62421120,62421122,62421124,62421126,62421128,62421130,62421132,62421134,62421144,62421148,62421150,62421152,62421154,62421156,62421158,62421160,62421162,62421164,62421166,62421168,62421170,62421172,62421174,62421176,62421178,62421180,158257306,194375299,194388064,194739625,283915537,284806909,316659409" 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/P63261" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=71" 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=ENSG00000184009;t=ENST00000573283" 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=ACTG1" 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=ACTG1" 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+71" 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/ACTG1" 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:71" 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/71" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr17&hgg_gene=ENST00000573283.7&hgg_start=81509971&hgg_end=81512799&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:144" 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://medlineplus.gov/genetics/gene/actg1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=102560[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=102560[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/ACTG1/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/ENSG00000184009" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=ACTG1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=ACTG1" 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=ACTG1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ACTG1&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/PA24468" 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:144" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0000043.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:87906" 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/ACTG1#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:87906" 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/71/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=71" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
|
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000063;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000063 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000064;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000064 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000065;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000065 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000066;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000066 </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 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:71" 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=ACTG1&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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102560
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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, GAMMA-1; ACTG1
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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">
|
|
ACTIN, GAMMA; ACTG<br />
|
|
CYTOSKELETAL GAMMA-ACTIN<br />
|
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ACTIN, CYTOPLASMIC, 2
|
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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=ACTG1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ACTG1</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>
|
|
<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/17/1031?start=-3&limit=10&highlight=1031">17q25.3</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:81509971-81512799&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">17:81,509,971-81,512,799</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>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614583,604717" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/1031?start=-3&limit=10&highlight=1031">
|
|
17q25.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Baraitser-Winter syndrome 2
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614583"> 614583 </a>
|
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/entry/604717"> 604717 </a>
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PheneGene Graphics <span class="caret"></span>
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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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<p>Actins are a family of highly conserved cytoskeletal proteins that play fundamental roles in nearly all aspects of eukaryotic cell biology. The ability of a cell to divide, move, endocytose, generate contractile force, and maintain shape is reliant upon functional actin-based structures. Actin isoforms are grouped according to expression patterns: muscle actins predominate in striated and smooth muscle (e.g., ACTA1, <a href="/entry/102610">102610</a>, and ACTA2, <a href="/entry/102620">102620</a>, respectively), whereas the 2 cytoplasmic nonmuscle actins, gamma-actin (ACTG1) and beta-actin (ACTB; <a href="/entry/102630">102630</a>), are found in all cells (<a href="#13" class="mim-tip-reference" title="Sonnemann, K. J., Fitzsimons, D. P., Patel, J. R., Liu, Y., Schneider, M. F., Moss, R. L., Ervasti, J. M. <strong>Cytoplasmic gamma-actin is not required for skeletal muscle development but its absence leads to a progressive myopathy.</strong> Dev. Cell 11: 387-397, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16950128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16950128</a>] [<a href="https://doi.org/10.1016/j.devcel.2006.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16950128">Sonnemann et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16950128" 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 chick beta-actin cDNA as probe, <a href="#6" class="mim-tip-reference" title="Gunning, P., Ponte, P., Okayama, H., Engel, J., Blau, H., Kedes, L. <strong>Isolation and characterization of full-length cDNA clones for human alpha-, beta-, and gamma-actin mRNAs: skeletal but not cytoplasmic actins have an amino-terminal cysteine that is subsequently removed.</strong> Molec. Cell. Biol. 3: 787-795, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6865942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6865942</a>] [<a href="https://doi.org/10.1128/mcb.3.5.787-795.1983" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6865942">Gunning et al. (1983)</a> cloned beta-actin and gamma-actin from a fibroblast cDNA library. They noted that the N-terminal methionine is posttranslationally removed from the mature beta-actin and gamma-actin proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6865942" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Erba, H. P., Gunning, P., Kedes, L. <strong>Nucleotide sequence of the human gamma cytoskeletal actin mRNA: anomalous evolution of vertebrate non-muscle actin genes.</strong> Nucleic Acids Res. 14: 5275-5294, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3737401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3737401</a>] [<a href="https://doi.org/10.1093/nar/14.13.5275" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3737401">Erba et al. (1986)</a> presented the complete sequence of gamma-actin mRNA. They noted that gamma- and beta-actin differ by only 4 amino acids at their conserved N-terminal ends. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3737401" 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 screening a promyelocytic leukemia cell line cDNA library with chicken beta-actin, <a href="#2" class="mim-tip-reference" title="Chou, C.-C., Davis, R. C., Fuller, M. L., Slovin, J. P., Wong, A., Wright, J., Kania, S., Shaked, R., Gatti, R. A., Salser, W. A. <strong>Gamma-actin: unusual mRNA 3-prime-untranslated sequence conservation and amino acid substitutions that may be cancer related.</strong> Proc. Nat. Acad. Sci. 84: 2575-2579, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3472224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3472224</a>] [<a href="https://doi.org/10.1073/pnas.84.9.2575" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3472224">Chou et al. (1987)</a> cloned human gamma-actin. The deduced protein contains 375 amino acids. Northern blot analysis of human fetal tissues detected highest expression of a 2.35-kb transcript in brain and kidney, with weaker expression in liver and trophoblasts. High expression was also detected in a human hepatoma cell line. Expression of gamma-actin increased during macrophage differentiation in a neuroblastoma cell line. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3472224" 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 Northern blot analysis of mouse tissues, <a href="#4" class="mim-tip-reference" title="Erba, H. P., Eddy, R., Shows, T., Kedes, L., Gunning, P. <strong>Structure, chromosome location, and expression of the human gamma-actin gene: differential evolution, location, and expression of the cytoskeletal beta- and gamma-actin genes.</strong> Molec. Cell. Biol. 8: 1775-1789, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2837653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2837653</a>] [<a href="https://doi.org/10.1128/mcb.8.4.1775-1789.1988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2837653">Erba et al. (1988)</a> detected high gamma-actin expression in lung, kidney, and testis, moderate expression in brain, low expression in stomach, and very low expression in liver, heart, and muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2837653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Loisel, T. P., Boujemaa, R., Pantaloni, D., Carlier, M.-F. <strong>Reconstitution of actin-based motility of Listeria and Shigella using pure proteins.</strong> Nature 401: 613-616, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10524632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10524632</a>] [<a href="https://doi.org/10.1038/44183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10524632">Loisel et al. (1999)</a> used pure components of the actin cytoskeleton to reconstitute sustained movement in Listeria and Shigella in vitro. Actin-based propulsion was driven by the free energy released by ATP hydrolysis linked to actin polymerization and did not require myosin (see <a href="/entry/601478">601478</a>). In addition to actin and activated Arp2/3 complex (see <a href="/entry/604221">604221</a>), actin depolymerizing factor and capping protein (see <a href="/entry/601571">601571</a>) were also required for motility as they maintained a high steady-state level of G-actin, (monomeric, or globular, actin) which controls the rate of unidirectional growth of actin filaments at the surface of the bacterium. The movement was more effective when profilin (see <a href="/entry/176590">176590</a>), alpha-actinin (see <a href="/entry/102575">102575</a>), and, in the case of Listeria, VASP (<a href="/entry/601703">601703</a>) were also included. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10524632" 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="#15" class="mim-tip-reference" title="Tzima, E., Trotter, P. J., Orchard, M. A., Walker, J. H. <strong>Annexin V relocates to the platelet cytoskeleton upon activation and binds to a specific isoform of actin.</strong> Europ. J. Biochem. 267: 4720-4730, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10903505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10903505</a>] [<a href="https://doi.org/10.1046/j.1432-1327.2000.01525.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10903505">Tzima et al. (2000)</a> showed that annexin V (ANXA5; <a href="/entry/131230">131230</a>) bound filamentous actin (F-actin) and gamma-actin, but not beta-actin, in activated human platelets. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10903505" 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>Interaction of phospholipase D (see PLD1; <a href="/entry/602382">602382</a>) with actin microfilaments regulates cell proliferation, vesicle trafficking, and secretion. <a href="#7" class="mim-tip-reference" title="Kusner, D. J., Barton, J. A., Wen, K.-K., Wang, X., Rubenstein, P. A., Iyer, S. S. <strong>Regulation of phospholipase D activity by actin: actin exerts bidirectional modulation of mammalian phospolipase (sic) D activity in a polymerization-dependent, isoform-specific manner.</strong> J. Biol. Chem. 277: 50683-50692, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12388543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12388543</a>] [<a href="https://doi.org/10.1074/jbc.M209221200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12388543">Kusner et al. (2002)</a> found that highly purified G-actin inhibited both basal and stimulated PLD1 activity, whereas F-actin had the opposite effect. Actin-induced modulation of PLD1 activity was independent of the activating stimulus. The effects of actin on PLD1 were isoform specific: human platelet actin, which exists in a 5:1 ratio of beta- and gamma-actin, was only 45% as potent and 40% as efficacious as rabbit skeletal muscle alpha-actin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12388543" 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 mammalian cytoskeletal proteins beta- and gamma-actin are highly homologous, but only beta-actin is N-terminally arginylated in vivo, which regulates its function. <a href="#19" class="mim-tip-reference" title="Zhang, F., Saha, S., Shabalina, S. A., Kashina, A. <strong>Differential arginylation of actin isoforms is regulated by coding sequence-dependent degradation.</strong> Science 329: 1534-1537, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20847274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20847274</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20847274[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1191701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20847274">Zhang et al. (2010)</a> examined the metabolic fate of exogenously expressed arginylated and nonarginylated actin isoforms. Arginylated gamma-actin, unlike beta-actin, was highly unstable and was selectively ubiquitinated and degraded in vivo. This instability was regulated by the differences in the nucleotide coding sequence between the 2 actin isoforms, which conferred different translation rates. Gamma-actin was translated more slowly than beta-actin, and this slower processing resulted in the exposure of a normally hidden lysine residue for ubiquitination, leading to the preferential degradation of gamma-actin upon arginylation. <a href="#19" class="mim-tip-reference" title="Zhang, F., Saha, S., Shabalina, S. A., Kashina, A. <strong>Differential arginylation of actin isoforms is regulated by coding sequence-dependent degradation.</strong> Science 329: 1534-1537, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20847274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20847274</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20847274[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1191701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20847274">Zhang et al. (2010)</a> suggested that this degradation mechanism, coupled to nucleotide coding sequence, may regulate protein arginylation in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20847274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#10" class="mim-tip-reference" title="Otterbein, L. R., Graceffa, P., Dominguez, R. <strong>The crystal structure of uncomplexed actin in the ADP state.</strong> Science 293: 708-711, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11474115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11474115</a>] [<a href="https://doi.org/10.1126/science.1059700" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11474115">Otterbein et al. (2001)</a> determined the crystal structure at 1.54-angstrom resolution of actin in the ADP state modified to block polymerization. Compared with ATP-actin structures from complexes with deoxyribonuclease I (<a href="/entry/125505">125505</a>), profilin, and gelsolin (<a href="/entry/137350">137350</a>), monomeric ADP-actin is characterized by a marked conformational change in subdomain 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11474115" 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="#4" class="mim-tip-reference" title="Erba, H. P., Eddy, R., Shows, T., Kedes, L., Gunning, P. <strong>Structure, chromosome location, and expression of the human gamma-actin gene: differential evolution, location, and expression of the cytoskeletal beta- and gamma-actin genes.</strong> Molec. Cell. Biol. 8: 1775-1789, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2837653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2837653</a>] [<a href="https://doi.org/10.1128/mcb.8.4.1775-1789.1988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2837653">Erba et al. (1988)</a> determined that the ACTG1 gene contains 6 exons. The 5-prime flanking region contains TATA and CCAAT boxes, an SRF (<a href="/entry/600589">600589</a>)-binding site, and 5 SP1 (<a href="/entry/189906">189906</a>)-binding sites. The ACTB gene has a structure similar to that of ACTG1, suggesting that ACTB and ACTG1 arose by duplication of a common ancestor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2837653" 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="#4" class="mim-tip-reference" title="Erba, H. P., Eddy, R., Shows, T., Kedes, L., Gunning, P. <strong>Structure, chromosome location, and expression of the human gamma-actin gene: differential evolution, location, and expression of the cytoskeletal beta- and gamma-actin genes.</strong> Molec. Cell. Biol. 8: 1775-1789, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2837653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2837653</a>] [<a href="https://doi.org/10.1128/mcb.8.4.1775-1789.1988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2837653">Erba et al. (1988)</a> demonstrated that the human gamma-actin gene is located on chromosome 17 by Southern analysis of DNA from human-mouse somatic cell hybrids. Hybridization of the probe to the genome of a human-mouse cell hybrid containing a 17;9 translocation indicated that the gene is located in the region 17p11-qter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2837653" 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="Ueyama, H., Inazawa, J., Nishino, H., Ohkubo, I., Miwa, T. <strong>FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes.</strong> Cytogenet. Cell Genet. 74: 221-224, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8941379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8941379</a>] [<a href="https://doi.org/10.1159/000134420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8941379">Ueyama et al. (1996)</a> mapped the ACTG1 gene to 17q25 and 3 ACTG pseudogenes to other chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8941379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#20" class="mim-tip-reference" title="Zhu, M., Yang, T., Wei, S., DeWan, A. T., Morell, R. J., Elfenbein, J. L., Fisher, R. A., Leal, S. M., Smith, R. J. H., Friderici, K. H. <strong>Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).</strong> Am. J. Hum. Genet. 73: 1082-1091, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13680526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13680526</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=13680526[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/10.1086/379286" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13680526">Zhu et al. (2003)</a> identified 4 families segregating an autosomal dominant progressive sensorineural hearing loss, designated DFNA20 or DFNA26 (see <a href="/entry/604717">604717</a>), that had been linked to 17q25.3. They narrowed the critical interval containing the causative gene to approximately 2 million bp between markers D17S914 and D17S668, and sequenced cochlear-expressed genes within this interval in affected family members. In all 4 families, they identified missense mutations in highly conserved actin domains of the ACTG1 gene (<a href="#0001">102560.0001</a>-<a href="#0004">102560.0004</a>). Much of the specialized ultrastructural organization of the cells in the cochlea was based on the actin cytoskeleton. <a href="#20" class="mim-tip-reference" title="Zhu, M., Yang, T., Wei, S., DeWan, A. T., Morell, R. J., Elfenbein, J. L., Fisher, R. A., Leal, S. M., Smith, R. J. H., Friderici, K. H. <strong>Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).</strong> Am. J. Hum. Genet. 73: 1082-1091, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13680526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13680526</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=13680526[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/10.1086/379286" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13680526">Zhu et al. (2003)</a> noted that many of the mutations known to cause either syndromic or nonsyndromic deafness occur in genes that interact with actin. They stated that this was the first description of a mutation in cytoskeletal, or nonmuscle, actin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13680526" 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 19 affected individuals of a large Norwegian family reported by <a href="#14" class="mim-tip-reference" title="Teig, E. <strong>Hereditary progressive perceptive deafness in a family of 72 patients.</strong> Acta Otolaryng. 65: 365-372, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5654493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5654493</a>] [<a href="https://doi.org/10.3109/00016486809120977" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5654493">Teig (1968)</a>, <a href="#11" class="mim-tip-reference" title="Rendtorff, N. D., Zhu, M., Fagerheim, T., Antal, T. L., Jones, M., Teslovich, T. M., Gillanders, E. M., Barmada, M., Teig, E., Trent, J. M., Friderici, K. H., Stephan, D. A., Tranebjaerg, L. <strong>A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.</strong> Europ. J. Hum. Genet. 14: 1097-1105, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16773128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16773128</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201670" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16773128">Rendtorff et al. (2006)</a> identified a heterozygous mutation in the ACTG1 gene (<a href="#0006">102560.0006</a>). No mutations in the ACTG1 gene were identified in 19 additional Norwegian and Danish families with autosomal dominant hearing loss, suggesting that it is not a frequent cause in this population. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5654493+16773128" 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>Baraitser-Winter Syndrome 2</em></strong></p><p>
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<a href="#12" class="mim-tip-reference" title="Riviere, J.-B., van Bon, B. W. M., Hoischen, A., Kholmanskikh, S. S., O'Roak, B. J., Gilissen, C., Gijsen, S., Sullivan, C. T., Christian, S. L., Abdul-Rahman, O. A., Atkin, J. F., Chassaing, N., and 21 others. <strong>De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.</strong> Nature Genet. 44: 440-444, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366783[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366783">Riviere et al. (2012)</a> reported 8 patients with Baraitser-Winter syndrome (BRWS2; <a href="/entry/614582">614582</a>) with heterozygous missense mutations in the ACTG1 gene. Seven of 8 of these patients were proven to have de novo mutations. One mutation was recurrent in 3 patients, a ser-to-phe substitution at codon 155 (S155F; <a href="#0009">102560.0009</a>). All the others had novel missense mutations (<a href="#0010">102560.0010</a>-<a href="#0014">102560.0014</a>). Congenital or later-onset progressive hearing loss is a common feature of Baraitser-Winter syndrome, and <a href="#12" class="mim-tip-reference" title="Riviere, J.-B., van Bon, B. W. M., Hoischen, A., Kholmanskikh, S. S., O'Roak, B. J., Gilissen, C., Gijsen, S., Sullivan, C. T., Christian, S. L., Abdul-Rahman, O. A., Atkin, J. F., Chassaing, N., and 21 others. <strong>De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.</strong> Nature Genet. 44: 440-444, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366783[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366783">Riviere et al. (2012)</a> suggested that Baraitser-Winter syndrome represents the severe end of a spectrum of cytoplasmic actin-associated phenotypes that begins with Baraitser-Winter syndrome and extends to nonsyndromic hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366783" 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>To study the role of ACTG1 in skeletal muscle development and avoid the near-certain embryonic lethality of conventional Actg1 knockout, <a href="#13" class="mim-tip-reference" title="Sonnemann, K. J., Fitzsimons, D. P., Patel, J. R., Liu, Y., Schneider, M. F., Moss, R. L., Ervasti, J. M. <strong>Cytoplasmic gamma-actin is not required for skeletal muscle development but its absence leads to a progressive myopathy.</strong> Dev. Cell 11: 387-397, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16950128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16950128</a>] [<a href="https://doi.org/10.1016/j.devcel.2006.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16950128">Sonnemann et al. (2006)</a> conditionally ablated Actg1 expression in mouse skeletal muscle. Although muscle development proceeded normally, Actg1-knockout mice presented with overt muscle weakness accompanied by a progressive pattern of muscle fiber necrosis and regeneration. The phenotype resembled human centronuclear myopathies, which are typically associated with perturbations in enzyme activity, muscle development, or excitation-contraction coupling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16950128" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 17 affected members of a family segregating autosomal dominant progressive sensorineural hearing loss (<a href="/entry/604717">604717</a>), <a href="#20" class="mim-tip-reference" title="Zhu, M., Yang, T., Wei, S., DeWan, A. T., Morell, R. J., Elfenbein, J. L., Fisher, R. A., Leal, S. M., Smith, R. J. H., Friderici, K. H. <strong>Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).</strong> Am. J. Hum. Genet. 73: 1082-1091, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13680526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13680526</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=13680526[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/10.1086/379286" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13680526">Zhu et al. (2003)</a> identified a 340C-T transition in exon 3 of the processed ACTG1 mRNA, resulting in a thr89-to-ile (T89I) substitution in subdomain 1. The mutation is in an alpha helix that is thought to participate in the binding of fimbrin (PLS3; <a href="/entry/300131">300131</a>), a bundling protein. This amino acid is perfectly conserved in cytoplasmic actin, in species ranging from nematodes to mammals. The mutation was not identified in 220 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13680526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs104894544 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894544;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/rs104894544?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=rs104894544" 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=rs104894544" 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=RCV000019981 OR RCV000680835 OR RCV001568362" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019981, RCV000680835, RCV001568362" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019981...</a>
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<p>In 8 affected members of a family segregating autosomal dominant progressive sensorineural hearing loss (<a href="/entry/604717">604717</a>), <a href="#20" class="mim-tip-reference" title="Zhu, M., Yang, T., Wei, S., DeWan, A. T., Morell, R. J., Elfenbein, J. L., Fisher, R. A., Leal, S. M., Smith, R. J. H., Friderici, K. H. <strong>Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).</strong> Am. J. Hum. Genet. 73: 1082-1091, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13680526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13680526</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=13680526[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/10.1086/379286" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13680526">Zhu et al. (2003)</a> identified a lys118-to-met (K118M) mutation in exon 3 of the ACTG1 gene. The substitution occurs in subdomain 1 of the protein near the fimbrin (PLS3; <a href="/entry/300131">300131</a>)-binding domain. The family had been reported by <a href="#18" class="mim-tip-reference" title="Yang, T., Smith, R. <strong>A novel locus DFNA26 maps to chromosome 17q25 in two unrelated families with progressive autosomal dominant hearing loss. (Abstract)</strong> Am. J. Hum. Genet. 67 (suppl. 2): 300 only, 2000."None>Yang and Smith (2000)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13680526" 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">rs104894545 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894545;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=rs104894545" 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=rs104894545" 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=RCV000019982 OR RCV003764612" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019982, RCV003764612" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019982...</a>
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<p>In 8 affected members of a family segregating autosomal dominant progressive sensorineural hearing loss (<a href="/entry/604717">604717</a>), <a href="#20" class="mim-tip-reference" title="Zhu, M., Yang, T., Wei, S., DeWan, A. T., Morell, R. J., Elfenbein, J. L., Fisher, R. A., Leal, S. M., Smith, R. J. H., Friderici, K. H. <strong>Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).</strong> Am. J. Hum. Genet. 73: 1082-1091, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13680526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13680526</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=13680526[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/10.1086/379286" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13680526">Zhu et al. (2003)</a> identified a pro332-to-ala (P332A) missense mutation in the ACTG1 gene. The family had been reported by <a href="#18" class="mim-tip-reference" title="Yang, T., Smith, R. <strong>A novel locus DFNA26 maps to chromosome 17q25 in two unrelated families with progressive autosomal dominant hearing loss. (Abstract)</strong> Am. J. Hum. Genet. 67 (suppl. 2): 300 only, 2000."None>Yang and Smith (2000)</a>. P332A is in a 3-amino acid loop in subdomain 3 of the protein; this loop may be part of the primary contact site for myosin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13680526" 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">rs104894546 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894546;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=rs104894546" 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=rs104894546" 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=RCV000019983 OR RCV000680834" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019983, RCV000680834" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019983...</a>
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<p>In 11 affected members of a family segregating autosomal dominant progressive sensorineural hearing loss (<a href="/entry/604717">604717</a>) reported by <a href="#3" class="mim-tip-reference" title="DeWan, A. T., Parrado, A. R., Leal, S. M. <strong>A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval.</strong> Clin. Genet. 63: 39-45, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12519370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12519370</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.630106.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12519370">DeWan et al. (2003)</a>, <a href="#20" class="mim-tip-reference" title="Zhu, M., Yang, T., Wei, S., DeWan, A. T., Morell, R. J., Elfenbein, J. L., Fisher, R. A., Leal, S. M., Smith, R. J. H., Friderici, K. H. <strong>Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).</strong> Am. J. Hum. Genet. 73: 1082-1091, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13680526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13680526</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=13680526[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/10.1086/379286" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13680526">Zhu et al. (2003)</a> identified a pro264-to-leu (P264L) missense mutation in the gamma-actin gene. P264L is in a proposed hydrophobic plug for interstrand interactions in subdomain 4 of the protein, near the actin self-assembly site. Affected members had an early age at onset and rapid progression of hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13680526+12519370" 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">rs28999112 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28999112;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=rs28999112" 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=rs28999112" 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=RCV000019984 OR RCV001851957" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019984, RCV001851957" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019984...</a>
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<p>In a Dutch family with autosomal dominant deafness linked to the DFNA20 region (<a href="/entry/604717">604717</a>), <a href="#17" class="mim-tip-reference" title="van Wijk, E., Krieger, E., Kemperman, M. H., De Leenheer, E. M. R., Huygen, P. L. M., Cremers, C. W. R. J., Cremers, F. P. M., Kremer, H. <strong>A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).</strong> J. Med. Genet. 40: 879-884, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14684684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14684684</a>] [<a href="https://doi.org/10.1136/jmg.40.12.879" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14684684">Van Wijk et al. (2003)</a> found that affected members had an 833C-T transition in exon 5 of the ACTG1 gene, resulting in a thr278-to-ile (T278I) substitution. The mutation was identified in helix 9 of the modeled protein structure and was predicted to have a small but significant effect on the gamma-1 actin structure owing to its close proximity to a methionine residue at position 313 in helix 11. The authors suggested that the mutation would interfere with actin polymerization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14684684" 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">rs104894547 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894547;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=rs104894547" 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=rs104894547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 19 affected members of a large Norwegian family with autosomal dominant DFNA20 (<a href="/entry/604717">604717</a>), <a href="#11" class="mim-tip-reference" title="Rendtorff, N. D., Zhu, M., Fagerheim, T., Antal, T. L., Jones, M., Teslovich, T. M., Gillanders, E. M., Barmada, M., Teig, E., Trent, J. M., Friderici, K. H., Stephan, D. A., Tranebjaerg, L. <strong>A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.</strong> Europ. J. Hum. Genet. 14: 1097-1105, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16773128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16773128</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201670" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16773128">Rendtorff et al. (2006)</a> identified a heterozygous 1109T-C transition in exon 6 of the ACTG1 gene, resulting in a val370-to-ala (V370A) substitution in a highly conserved region. Functional expression studies in yeast showed that the mutant protein suppressed growth; computer modeling suggested that the V370A substitution impaired hydrophobic interactions and destabilized the position of the C-terminal tail of the protein. The family had originally been reported by <a href="#14" class="mim-tip-reference" title="Teig, E. <strong>Hereditary progressive perceptive deafness in a family of 72 patients.</strong> Acta Otolaryng. 65: 365-372, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5654493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5654493</a>] [<a href="https://doi.org/10.3109/00016486809120977" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5654493">Teig (1968)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5654493+16773128" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267606630 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606630;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/rs267606630?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=rs267606630" 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=rs267606630" 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=RCV000019986 OR RCV000059722" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019986, RCV000059722" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019986...</a>
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<p>In a Spanish father and daughter with autosomal dominant deafness (<a href="/entry/604717">604717</a>), <a href="#9" class="mim-tip-reference" title="Morin, M., Bryan, K. E., Mayo-Merino, F., Goodyear, R., Mencia, A., Modamio-Hoybjor, S., del Castillo, I., Cabalka, J. M., Richardson, G., Moreno, F., Rubenstein, P. A., Moreno-Pelayo, M. A. <strong>In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.</strong> Hum. Molec. Genet. 18: 3075-3089, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19477959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19477959</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19477959[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19477959">Morin et al. (2009)</a> identified heterozygosity for a 354G-C transversion in exon 3 of the ACTG1 gene, resulting in a lys118-to-asn (K118N) substitution in subdomain 1. The mutation was not found in 100 normal unrelated Spanish controls. Both father and daughter showed bilateral, symmetric, progressive sensorineural hearing loss at mid and high frequencies of postlingual onset. The daughter had onset in the third decade, and the father had even later onset. <a href="#9" class="mim-tip-reference" title="Morin, M., Bryan, K. E., Mayo-Merino, F., Goodyear, R., Mencia, A., Modamio-Hoybjor, S., del Castillo, I., Cabalka, J. M., Richardson, G., Moreno, F., Rubenstein, P. A., Moreno-Pelayo, M. A. <strong>In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.</strong> Hum. Molec. Genet. 18: 3075-3089, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19477959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19477959</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19477959[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19477959">Morin et al. (2009)</a> showed that the K118N mutation had a very mild effect in yeast. In transiently transfected NIH3T3 cells, K118N-mutant actin was normally incorporated into cytoskeleton structures, although cytoplasmic aggregates were also observed indicating an element of abnormality caused by the K118N mutation in vivo. Gene-gun mediated expression of K118N mutant in mouse cochlear hair cells resulted in no gross alteration in cytoskeletal structures or the morphology of stereocilia. <a href="#9" class="mim-tip-reference" title="Morin, M., Bryan, K. E., Mayo-Merino, F., Goodyear, R., Mencia, A., Modamio-Hoybjor, S., del Castillo, I., Cabalka, J. M., Richardson, G., Moreno, F., Rubenstein, P. A., Moreno-Pelayo, M. A. <strong>In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.</strong> Hum. Molec. Genet. 18: 3075-3089, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19477959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19477959</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19477959[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19477959">Morin et al. (2009)</a> supported the hypothesis that the postlingual and progressive nature of the DFNA20/26 hearing loss may be the result of a progressive deterioration of the hair cell cytoskeleton over time. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19477959" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 DEAFNESS, AUTOSOMAL DOMINANT 20</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">rs267606631 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606631;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=rs267606631" 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=rs267606631" 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=RCV000019987 OR RCV000059728 OR RCV000211710 OR RCV001375049" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019987, RCV000059728, RCV000211710, RCV001375049" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019987...</a>
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<p>In 4 affected members of a Spanish family with autosomal dominant deafness (<a href="/entry/604717">604717</a>), <a href="#9" class="mim-tip-reference" title="Morin, M., Bryan, K. E., Mayo-Merino, F., Goodyear, R., Mencia, A., Modamio-Hoybjor, S., del Castillo, I., Cabalka, J. M., Richardson, G., Moreno, F., Rubenstein, P. A., Moreno-Pelayo, M. A. <strong>In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.</strong> Hum. Molec. Genet. 18: 3075-3089, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19477959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19477959</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19477959[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19477959">Morin et al. (2009)</a> identified heterozygosity for a 721G-A transition in exon 4 of the ACTG1 gene, resulting in a glu241-to-lys (E241K) substitution in subdomain 4. The mutation was not found in 100 normal unrelated Spanish controls. The affected members were referred for hearing loss at school age, with the earliest individual referred at age 6 years. All showed postlingual, bilateral, symmetric, progressive sensorineural hearing loss at mid and high frequencies. In yeast, the E241K mutation resulted in a severe phenotype characterized by a highly compromised ability to grow on glycerol as a carbon source, an aberrant multivacuolar pattern, and deposition of thick F-actin bundles randomly in the cell. The latter feature is consistent with the unusual tendency of the E241K mutant to form bundles in vitro, although this propensity to bundle was neutralized by tropomyosin (TPM1; <a href="/entry/191010">191010</a>) and the E241K filament bundles were hypersensitive to severing in the presence of cofilin (CFL1; <a href="/entry/601442">601442</a>). In transiently transfected NIH3T3 cells, E241K-mutant actin was normally incorporated into cytoskeleton structures, although cytoplasmic aggregates were also observed indicating an element of abnormality caused by the mutations in vivo. Gene-gun mediated expression of the E241K mutant in mouse cochlear hair cells resulted in no gross alteration in cytoskeletal structures or the morphology of stereocilia. <a href="#9" class="mim-tip-reference" title="Morin, M., Bryan, K. E., Mayo-Merino, F., Goodyear, R., Mencia, A., Modamio-Hoybjor, S., del Castillo, I., Cabalka, J. M., Richardson, G., Moreno, F., Rubenstein, P. A., Moreno-Pelayo, M. A. <strong>In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.</strong> Hum. Molec. Genet. 18: 3075-3089, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19477959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19477959</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19477959[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19477959">Morin et al. (2009)</a> supported the hypothesis that the postlingual and progressive nature of the DFNA20/26 hearing loss may be the result of a progressive deterioration of the hair cell cytoskeleton over time. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19477959" 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">rs281875326 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875326;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=rs281875326" 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=rs281875326" 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=RCV000022422 OR RCV000059726 OR RCV001849278 OR RCV003362663" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022422, RCV000059726, RCV001849278, RCV003362663" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022422...</a>
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<p>In 3 unrelated individuals with Baraitser-Winter syndrome-2 (BRWS2; <a href="/entry/614583">614583</a>), <a href="#12" class="mim-tip-reference" title="Riviere, J.-B., van Bon, B. W. M., Hoischen, A., Kholmanskikh, S. S., O'Roak, B. J., Gilissen, C., Gijsen, S., Sullivan, C. T., Christian, S. L., Abdul-Rahman, O. A., Atkin, J. F., Chassaing, N., and 21 others. <strong>De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.</strong> Nature Genet. 44: 440-444, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366783[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366783">Riviere et al. (2012)</a> identified a heterozygous C-to-T transition at nucleotide 464 of the ACTG1 gene, resulting in a ser-to-phe substitution at codon 155 (S155F). This mutation was proven to have occurred de novo in 2 of the 3; in the third, parental DNA was not available. One of these 3 patients, LP98-096, was reported by <a href="#1" class="mim-tip-reference" title="Baraitser, M., Winter, R. M. <strong>Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.</strong> J. Med. Genet. 25: 41-43, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3351890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3351890</a>] [<a href="https://doi.org/10.1136/jmg.25.1.41" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3351890">Baraitser and Winter (1988)</a>. This mutation was not identified in 224 control exomes. <a href="#12" class="mim-tip-reference" title="Riviere, J.-B., van Bon, B. W. M., Hoischen, A., Kholmanskikh, S. S., O'Roak, B. J., Gilissen, C., Gijsen, S., Sullivan, C. T., Christian, S. L., Abdul-Rahman, O. A., Atkin, J. F., Chassaing, N., and 21 others. <strong>De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.</strong> Nature Genet. 44: 440-444, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366783[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366783">Riviere et al. (2012)</a> studied lymphoblastoid cell lines from individuals carrying the S155F mutation and demonstrated that these had increased F-actin content and multiple, anomalous F-actin-rich filopodia-like protrusions compared to control cells, resulting in increased cell perimeter. Cell lines also showed increased sensitivity to treatment with latrunculin A. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22366783+3351890" 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">rs281875325 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875325;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=rs281875325" 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=rs281875325" 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=RCV000022423 OR RCV000059723 OR RCV002251922" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022423, RCV000059723, RCV002251922" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022423...</a>
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<p><a href="#12" class="mim-tip-reference" title="Riviere, J.-B., van Bon, B. W. M., Hoischen, A., Kholmanskikh, S. S., O'Roak, B. J., Gilissen, C., Gijsen, S., Sullivan, C. T., Christian, S. L., Abdul-Rahman, O. A., Atkin, J. F., Chassaing, N., and 21 others. <strong>De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.</strong> Nature Genet. 44: 440-444, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366783[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366783">Riviere et al. (2012)</a> reported a single individual with Baraitser-Winter syndrome-2 (BRWS2; <a href="/entry/614583">614583</a>) carrying a de novo heterozygous mutation in ACTG1, a C-to-T transition at nucleotide 359 resulting in a thr-to-ile substitution at codon 120 (T120I). This mutation was not observed in 244 other exomes sequenced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366783" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000022424 OR RCV000059725 OR RCV002513166" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022424, RCV000059725, RCV002513166" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022424...</a>
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<p>In an individual with Baraitser-Winter syndrome-2 (BRWS2; <a href="/entry/614583">614583</a>), <a href="#12" class="mim-tip-reference" title="Riviere, J.-B., van Bon, B. W. M., Hoischen, A., Kholmanskikh, S. S., O'Roak, B. J., Gilissen, C., Gijsen, S., Sullivan, C. T., Christian, S. L., Abdul-Rahman, O. A., Atkin, J. F., Chassaing, N., and 21 others. <strong>De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.</strong> Nature Genet. 44: 440-444, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366783[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366783">Riviere et al. (2012)</a> identified a heterozygous C-to-T transition at nucleotide 404 of the ACTG1 gene, resulting in an ala-to-val substitution at codon 135 (A135V). This mutation occurred de novo in the patient and was not observed in 192 other exomes sequenced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366783" 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">rs281875327 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875327;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=rs281875327" 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=rs281875327" 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=RCV000022425 OR RCV000059727" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022425, RCV000059727" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022425...</a>
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<p>In an individual with Baraitser-Winter syndrome-2 (BRWS2; <a href="/entry/614583">614583</a>), <a href="#12" class="mim-tip-reference" title="Riviere, J.-B., van Bon, B. W. M., Hoischen, A., Kholmanskikh, S. S., O'Roak, B. J., Gilissen, C., Gijsen, S., Sullivan, C. T., Christian, S. L., Abdul-Rahman, O. A., Atkin, J. F., Chassaing, N., and 21 others. <strong>De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.</strong> Nature Genet. 44: 440-444, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366783[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366783">Riviere et al. (2012)</a> identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366783" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs281875328 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875328;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/rs281875328?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=rs281875328" 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=rs281875328" 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=RCV000022426 OR RCV000059729 OR RCV001291054 OR RCV001851994 OR RCV003137540" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022426, RCV000059729, RCV001291054, RCV001851994, RCV003137540" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022426...</a>
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<p>In an individual with Baraitser-Winter syndrome-2 (BRWS2; <a href="/entry/614583">614583</a>), <a href="#12" class="mim-tip-reference" title="Riviere, J.-B., van Bon, B. W. M., Hoischen, A., Kholmanskikh, S. S., O'Roak, B. J., Gilissen, C., Gijsen, S., Sullivan, C. T., Christian, S. L., Abdul-Rahman, O. A., Atkin, J. F., Chassaing, N., and 21 others. <strong>De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.</strong> Nature Genet. 44: 440-444, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366783[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366783">Riviere et al. (2012)</a> identified a heterozygous C-to-T transition at nucleotide 760 of the ACTG1 gene, resulting in an arg-to-trp substitution at codon 254 (R254W). This mutation occurred de novo in the patient and was not observed in 195 other exomes sequenced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366783" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs281875329 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875329;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/rs281875329?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=rs281875329" 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=rs281875329" 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=RCV000022427 OR RCV000059730 OR RCV000770804 OR RCV001291159" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022427, RCV000059730, RCV000770804, RCV001291159" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022427...</a>
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<p>In an individual with Baraitser-Winter syndrome-2 (BRWS2; <a href="/entry/614583">614583</a>), <a href="#12" class="mim-tip-reference" title="Riviere, J.-B., van Bon, B. W. M., Hoischen, A., Kholmanskikh, S. S., O'Roak, B. J., Gilissen, C., Gijsen, S., Sullivan, C. T., Christian, S. L., Abdul-Rahman, O. A., Atkin, J. F., Chassaing, N., and 21 others. <strong>De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.</strong> Nature Genet. 44: 440-444, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366783[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366783">Riviere et al. (2012)</a> identified a heterozygous C-to-T transition at nucleotide 766 of the ACTG1 gene, resulting in an arg-to-trp substitution at codon 256 (R256W). This mutation occurred de novo in the patient and was not observed in 184 other exomes sequenced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366783" 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>Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.</strong>
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J. Med. Genet. 25: 41-43, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3351890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3351890</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3351890" 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/10.1136/jmg.25.1.41" target="_blank">Full Text</a>]
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Chou, C.-C., Davis, R. C., Fuller, M. L., Slovin, J. P., Wong, A., Wright, J., Kania, S., Shaked, R., Gatti, R. A., Salser, W. A.
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<strong>Differential arginylation of actin isoforms is regulated by coding sequence-dependent degradation.</strong>
|
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Science 329: 1534-1537, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20847274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20847274</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20847274[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20847274" 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.1191701" 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="20" class="mim-anchor"></a>
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<a id="Zhu2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhu, M., Yang, T., Wei, S., DeWan, A. T., Morell, R. J., Elfenbein, J. L., Fisher, R. A., Leal, S. M., Smith, R. J. H., Friderici, K. H.
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<strong>Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).</strong>
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Am. J. Hum. Genet. 73: 1082-1091, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13680526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13680526</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=13680526[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13680526" 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/10.1086/379286" target="_blank">Full Text</a>]
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</p>
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</ol>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 4/18/2012
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 11/2/2010<br>George E. Tiller - updated : 6/28/2010<br>Cassandra L. Kniffin - updated : 11/3/2006<br>Patricia A. Hartz - updated : 10/4/2006<br>Natalie E. Krasikov - updated : 3/30/2004<br>Victor A. McKusick - updated : 10/27/2003<br>Ada Hamosh - updated : 8/14/2001<br>Ada Hamosh - updated : 10/12/1999
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</span>
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/03/2018
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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 : 08/05/2016<br>alopez : 04/19/2012<br>terry : 4/18/2012<br>alopez : 11/9/2010<br>terry : 11/2/2010<br>wwang : 7/16/2010<br>terry : 6/28/2010<br>wwang : 5/7/2009<br>terry : 8/6/2007<br>alopez : 7/25/2007<br>terry : 7/24/2007<br>carol : 11/3/2006<br>ckniffin : 11/3/2006<br>mgross : 10/11/2006<br>mgross : 10/11/2006<br>mgross : 10/11/2006<br>terry : 10/4/2006<br>terry : 10/4/2006<br>carol : 4/8/2004<br>terry : 3/30/2004<br>carol : 10/28/2003<br>carol : 10/28/2003<br>terry : 10/27/2003<br>alopez : 8/17/2001<br>terry : 8/14/2001<br>mgross : 10/15/1999<br>alopez : 10/12/1999<br>alopez : 10/12/1999<br>mark : 3/20/1997<br>terry : 1/13/1997<br>supermim : 3/16/1992<br>carol : 7/3/1991<br>carol : 3/19/1991<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>root : 6/3/1988
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</span>
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<span class="mim-font">
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<strong>*</strong> 102560
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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ACTIN, GAMMA-1; ACTG1
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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ACTIN, GAMMA; ACTG<br />
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CYTOSKELETAL GAMMA-ACTIN<br />
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ACTIN, CYTOPLASMIC, 2
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</span>
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</h4>
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</div>
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</div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ACTG1</em></strong>
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</span>
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<strong>
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<em>
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Cytogenetic location: 17q25.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:81,509,971-81,512,799 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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<th>
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Inheritance
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<th>
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Phenotype <br /> mapping key
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<td rowspan="2">
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<span class="mim-font">
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17q25.3
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<td>
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<span class="mim-font">
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Baraitser-Winter syndrome 2
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</td>
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<td>
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<span class="mim-font">
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614583
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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Deafness, autosomal dominant 20/26
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<span class="mim-font">
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604717
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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</tbody>
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</table>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</div>
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<span class="mim-text-font">
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<p>Actins are a family of highly conserved cytoskeletal proteins that play fundamental roles in nearly all aspects of eukaryotic cell biology. The ability of a cell to divide, move, endocytose, generate contractile force, and maintain shape is reliant upon functional actin-based structures. Actin isoforms are grouped according to expression patterns: muscle actins predominate in striated and smooth muscle (e.g., ACTA1, 102610, and ACTA2, 102620, respectively), whereas the 2 cytoplasmic nonmuscle actins, gamma-actin (ACTG1) and beta-actin (ACTB; 102630), are found in all cells (Sonnemann et al., 2006). </p>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using chick beta-actin cDNA as probe, Gunning et al. (1983) cloned beta-actin and gamma-actin from a fibroblast cDNA library. They noted that the N-terminal methionine is posttranslationally removed from the mature beta-actin and gamma-actin proteins. </p><p>Erba et al. (1986) presented the complete sequence of gamma-actin mRNA. They noted that gamma- and beta-actin differ by only 4 amino acids at their conserved N-terminal ends. </p><p>By screening a promyelocytic leukemia cell line cDNA library with chicken beta-actin, Chou et al. (1987) cloned human gamma-actin. The deduced protein contains 375 amino acids. Northern blot analysis of human fetal tissues detected highest expression of a 2.35-kb transcript in brain and kidney, with weaker expression in liver and trophoblasts. High expression was also detected in a human hepatoma cell line. Expression of gamma-actin increased during macrophage differentiation in a neuroblastoma cell line. </p><p>By Northern blot analysis of mouse tissues, Erba et al. (1988) detected high gamma-actin expression in lung, kidney, and testis, moderate expression in brain, low expression in stomach, and very low expression in liver, heart, and 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>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>Loisel et al. (1999) used pure components of the actin cytoskeleton to reconstitute sustained movement in Listeria and Shigella in vitro. Actin-based propulsion was driven by the free energy released by ATP hydrolysis linked to actin polymerization and did not require myosin (see 601478). In addition to actin and activated Arp2/3 complex (see 604221), actin depolymerizing factor and capping protein (see 601571) were also required for motility as they maintained a high steady-state level of G-actin, (monomeric, or globular, actin) which controls the rate of unidirectional growth of actin filaments at the surface of the bacterium. The movement was more effective when profilin (see 176590), alpha-actinin (see 102575), and, in the case of Listeria, VASP (601703) were also included. </p><p>Tzima et al. (2000) showed that annexin V (ANXA5; 131230) bound filamentous actin (F-actin) and gamma-actin, but not beta-actin, in activated human platelets. </p><p>Interaction of phospholipase D (see PLD1; 602382) with actin microfilaments regulates cell proliferation, vesicle trafficking, and secretion. Kusner et al. (2002) found that highly purified G-actin inhibited both basal and stimulated PLD1 activity, whereas F-actin had the opposite effect. Actin-induced modulation of PLD1 activity was independent of the activating stimulus. The effects of actin on PLD1 were isoform specific: human platelet actin, which exists in a 5:1 ratio of beta- and gamma-actin, was only 45% as potent and 40% as efficacious as rabbit skeletal muscle alpha-actin. </p><p>The mammalian cytoskeletal proteins beta- and gamma-actin are highly homologous, but only beta-actin is N-terminally arginylated in vivo, which regulates its function. Zhang et al. (2010) examined the metabolic fate of exogenously expressed arginylated and nonarginylated actin isoforms. Arginylated gamma-actin, unlike beta-actin, was highly unstable and was selectively ubiquitinated and degraded in vivo. This instability was regulated by the differences in the nucleotide coding sequence between the 2 actin isoforms, which conferred different translation rates. Gamma-actin was translated more slowly than beta-actin, and this slower processing resulted in the exposure of a normally hidden lysine residue for ubiquitination, leading to the preferential degradation of gamma-actin upon arginylation. Zhang et al. (2010) suggested that this degradation mechanism, coupled to nucleotide coding sequence, may regulate protein arginylation in vivo. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Biochemical Features</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p><strong><em>Crystal Structure</em></strong></p><p>
|
|
Otterbein et al. (2001) determined the crystal structure at 1.54-angstrom resolution of actin in the ADP state modified to block polymerization. Compared with ATP-actin structures from complexes with deoxyribonuclease I (125505), profilin, and gelsolin (137350), monomeric ADP-actin is characterized by a marked conformational change in subdomain 2. </p>
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</span>
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Erba et al. (1988) determined that the ACTG1 gene contains 6 exons. The 5-prime flanking region contains TATA and CCAAT boxes, an SRF (600589)-binding site, and 5 SP1 (189906)-binding sites. The ACTB gene has a structure similar to that of ACTG1, suggesting that ACTB and ACTG1 arose by duplication of a common ancestor. </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>Erba et al. (1988) demonstrated that the human gamma-actin gene is located on chromosome 17 by Southern analysis of DNA from human-mouse somatic cell hybrids. Hybridization of the probe to the genome of a human-mouse cell hybrid containing a 17;9 translocation indicated that the gene is located in the region 17p11-qter. </p><p>Ueyama et al. (1996) mapped the ACTG1 gene to 17q25 and 3 ACTG pseudogenes to other chromosomes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p><strong><em>DFNA20/26</em></strong></p><p>
|
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Zhu et al. (2003) identified 4 families segregating an autosomal dominant progressive sensorineural hearing loss, designated DFNA20 or DFNA26 (see 604717), that had been linked to 17q25.3. They narrowed the critical interval containing the causative gene to approximately 2 million bp between markers D17S914 and D17S668, and sequenced cochlear-expressed genes within this interval in affected family members. In all 4 families, they identified missense mutations in highly conserved actin domains of the ACTG1 gene (102560.0001-102560.0004). Much of the specialized ultrastructural organization of the cells in the cochlea was based on the actin cytoskeleton. Zhu et al. (2003) noted that many of the mutations known to cause either syndromic or nonsyndromic deafness occur in genes that interact with actin. They stated that this was the first description of a mutation in cytoskeletal, or nonmuscle, actin. </p><p>In 19 affected individuals of a large Norwegian family reported by Teig (1968), Rendtorff et al. (2006) identified a heterozygous mutation in the ACTG1 gene (102560.0006). No mutations in the ACTG1 gene were identified in 19 additional Norwegian and Danish families with autosomal dominant hearing loss, suggesting that it is not a frequent cause in this population. </p><p><strong><em>Baraitser-Winter Syndrome 2</em></strong></p><p>
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Riviere et al. (2012) reported 8 patients with Baraitser-Winter syndrome (BRWS2; 614582) with heterozygous missense mutations in the ACTG1 gene. Seven of 8 of these patients were proven to have de novo mutations. One mutation was recurrent in 3 patients, a ser-to-phe substitution at codon 155 (S155F; 102560.0009). All the others had novel missense mutations (102560.0010-102560.0014). Congenital or later-onset progressive hearing loss is a common feature of Baraitser-Winter syndrome, and Riviere et al. (2012) suggested that Baraitser-Winter syndrome represents the severe end of a spectrum of cytoplasmic actin-associated phenotypes that begins with Baraitser-Winter syndrome and extends to nonsyndromic hearing loss. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>To study the role of ACTG1 in skeletal muscle development and avoid the near-certain embryonic lethality of conventional Actg1 knockout, Sonnemann et al. (2006) conditionally ablated Actg1 expression in mouse skeletal muscle. Although muscle development proceeded normally, Actg1-knockout mice presented with overt muscle weakness accompanied by a progressive pattern of muscle fiber necrosis and regeneration. The phenotype resembled human centronuclear myopathies, which are typically associated with perturbations in enzyme activity, muscle development, or excitation-contraction coupling. </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>14 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 DEAFNESS, AUTOSOMAL DOMINANT 20</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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ACTG1, THR89ILE
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<br />
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SNP: rs28999111,
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ClinVar: RCV000019980
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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 17 affected members of a family segregating autosomal dominant progressive sensorineural hearing loss (604717), Zhu et al. (2003) identified a 340C-T transition in exon 3 of the processed ACTG1 mRNA, resulting in a thr89-to-ile (T89I) substitution in subdomain 1. The mutation is in an alpha helix that is thought to participate in the binding of fimbrin (PLS3; 300131), a bundling protein. This amino acid is perfectly conserved in cytoplasmic actin, in species ranging from nematodes to mammals. The mutation was not identified in 220 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">
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<strong>.0002 DEAFNESS, AUTOSOMAL DOMINANT 20</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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ACTG1, LYS118MET
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<br />
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SNP: rs104894544,
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gnomAD: rs104894544,
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ClinVar: RCV000019981, RCV000680835, RCV001568362
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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 8 affected members of a family segregating autosomal dominant progressive sensorineural hearing loss (604717), Zhu et al. (2003) identified a lys118-to-met (K118M) mutation in exon 3 of the ACTG1 gene. The substitution occurs in subdomain 1 of the protein near the fimbrin (PLS3; 300131)-binding domain. The family had been reported by Yang and Smith (2000). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0003 DEAFNESS, AUTOSOMAL DOMINANT 20</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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ACTG1, PRO332ALA
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<br />
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SNP: rs104894545,
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ClinVar: RCV000019982, RCV003764612
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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 8 affected members of a family segregating autosomal dominant progressive sensorineural hearing loss (604717), Zhu et al. (2003) identified a pro332-to-ala (P332A) missense mutation in the ACTG1 gene. The family had been reported by Yang and Smith (2000). P332A is in a 3-amino acid loop in subdomain 3 of the protein; this loop may be part of the primary contact site for myosin. </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>.0004 DEAFNESS, AUTOSOMAL DOMINANT 20</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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ACTG1, PRO264LEU
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<br />
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SNP: rs104894546,
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ClinVar: RCV000019983, RCV000680834
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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 11 affected members of a family segregating autosomal dominant progressive sensorineural hearing loss (604717) reported by DeWan et al. (2003), Zhu et al. (2003) identified a pro264-to-leu (P264L) missense mutation in the gamma-actin gene. P264L is in a proposed hydrophobic plug for interstrand interactions in subdomain 4 of the protein, near the actin self-assembly site. Affected members had an early age at onset and rapid progression of hearing loss. </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>.0005 DEAFNESS, AUTOSOMAL DOMINANT 20</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
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ACTG1, THR278ILE
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<br />
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|
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SNP: rs28999112,
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|
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ClinVar: RCV000019984, RCV001851957
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|
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Dutch family with autosomal dominant deafness linked to the DFNA20 region (604717), Van Wijk et al. (2003) found that affected members had an 833C-T transition in exon 5 of the ACTG1 gene, resulting in a thr278-to-ile (T278I) substitution. The mutation was identified in helix 9 of the modeled protein structure and was predicted to have a small but significant effect on the gamma-1 actin structure owing to its close proximity to a methionine residue at position 313 in helix 11. The authors suggested that the mutation would interfere with actin polymerization. </p>
|
|
</span>
|
|
</div>
|
|
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 DEAFNESS, AUTOSOMAL DOMINANT 20</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ACTG1, VAL370ALA
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|
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|
|
<br />
|
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|
|
SNP: rs104894547,
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|
|
|
|
|
|
|
ClinVar: RCV000019985
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 19 affected members of a large Norwegian family with autosomal dominant DFNA20 (604717), Rendtorff et al. (2006) identified a heterozygous 1109T-C transition in exon 6 of the ACTG1 gene, resulting in a val370-to-ala (V370A) substitution in a highly conserved region. Functional expression studies in yeast showed that the mutant protein suppressed growth; computer modeling suggested that the V370A substitution impaired hydrophobic interactions and destabilized the position of the C-terminal tail of the protein. The family had originally been reported by Teig (1968). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 DEAFNESS, AUTOSOMAL DOMINANT 20</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ACTG1, LYS118ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267606630,
|
|
|
|
|
|
gnomAD: rs267606630,
|
|
|
|
|
|
ClinVar: RCV000019986, RCV000059722
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Spanish father and daughter with autosomal dominant deafness (604717), Morin et al. (2009) identified heterozygosity for a 354G-C transversion in exon 3 of the ACTG1 gene, resulting in a lys118-to-asn (K118N) substitution in subdomain 1. The mutation was not found in 100 normal unrelated Spanish controls. Both father and daughter showed bilateral, symmetric, progressive sensorineural hearing loss at mid and high frequencies of postlingual onset. The daughter had onset in the third decade, and the father had even later onset. Morin et al. (2009) showed that the K118N mutation had a very mild effect in yeast. In transiently transfected NIH3T3 cells, K118N-mutant actin was normally incorporated into cytoskeleton structures, although cytoplasmic aggregates were also observed indicating an element of abnormality caused by the K118N mutation in vivo. Gene-gun mediated expression of K118N mutant in mouse cochlear hair cells resulted in no gross alteration in cytoskeletal structures or the morphology of stereocilia. Morin et al. (2009) supported the hypothesis that the postlingual and progressive nature of the DFNA20/26 hearing loss may be the result of a progressive deterioration of the hair cell cytoskeleton over time. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 DEAFNESS, AUTOSOMAL DOMINANT 20</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ACTG1, GLU241LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267606631,
|
|
|
|
|
|
|
|
ClinVar: RCV000019987, RCV000059728, RCV000211710, RCV001375049
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 affected members of a Spanish family with autosomal dominant deafness (604717), Morin et al. (2009) identified heterozygosity for a 721G-A transition in exon 4 of the ACTG1 gene, resulting in a glu241-to-lys (E241K) substitution in subdomain 4. The mutation was not found in 100 normal unrelated Spanish controls. The affected members were referred for hearing loss at school age, with the earliest individual referred at age 6 years. All showed postlingual, bilateral, symmetric, progressive sensorineural hearing loss at mid and high frequencies. In yeast, the E241K mutation resulted in a severe phenotype characterized by a highly compromised ability to grow on glycerol as a carbon source, an aberrant multivacuolar pattern, and deposition of thick F-actin bundles randomly in the cell. The latter feature is consistent with the unusual tendency of the E241K mutant to form bundles in vitro, although this propensity to bundle was neutralized by tropomyosin (TPM1; 191010) and the E241K filament bundles were hypersensitive to severing in the presence of cofilin (CFL1; 601442). In transiently transfected NIH3T3 cells, E241K-mutant actin was normally incorporated into cytoskeleton structures, although cytoplasmic aggregates were also observed indicating an element of abnormality caused by the mutations in vivo. Gene-gun mediated expression of the E241K mutant in mouse cochlear hair cells resulted in no gross alteration in cytoskeletal structures or the morphology of stereocilia. Morin et al. (2009) supported the hypothesis that the postlingual and progressive nature of the DFNA20/26 hearing loss may be the result of a progressive deterioration of the hair cell cytoskeleton over time. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 BARAITSER-WINTER SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ACTG1, SER155PHE
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs281875326,
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|
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|
|
|
|
|
ClinVar: RCV000022422, RCV000059726, RCV001849278, RCV003362663
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|
|
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 unrelated individuals with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-T transition at nucleotide 464 of the ACTG1 gene, resulting in a ser-to-phe substitution at codon 155 (S155F). This mutation was proven to have occurred de novo in 2 of the 3; in the third, parental DNA was not available. One of these 3 patients, LP98-096, was reported by Baraitser and Winter (1988). This mutation was not identified in 224 control exomes. Riviere et al. (2012) studied lymphoblastoid cell lines from individuals carrying the S155F mutation and demonstrated that these had increased F-actin content and multiple, anomalous F-actin-rich filopodia-like protrusions compared to control cells, resulting in increased cell perimeter. Cell lines also showed increased sensitivity to treatment with latrunculin A. </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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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 BARAITSER-WINTER SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ACTG1, THR120ILE
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|
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|
<br />
|
|
|
|
SNP: rs281875325,
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|
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ClinVar: RCV000022423, RCV000059723, RCV002251922
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</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Riviere et al. (2012) reported a single individual with Baraitser-Winter syndrome-2 (BRWS2; 614583) carrying a de novo heterozygous mutation in ACTG1, a C-to-T transition at nucleotide 359 resulting in a thr-to-ile substitution at codon 120 (T120I). This mutation was not observed in 244 other exomes sequenced. </p>
|
|
</span>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 BARAITSER-WINTER SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
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|
ACTG1, ALA135VAL
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<br />
|
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|
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SNP: rs11549190,
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|
|
ClinVar: RCV000022424, RCV000059725, RCV002513166
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-T transition at nucleotide 404 of the ACTG1 gene, resulting in an ala-to-val substitution at codon 135 (A135V). This mutation occurred de novo in the patient and was not observed in 192 other exomes sequenced. </p>
|
|
</span>
|
|
</div>
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 BARAITSER-WINTER SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
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<span class="mim-text-font">
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ACTG1, THR203LYS
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<br />
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SNP: rs281875327,
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ClinVar: RCV000022425, RCV000059727
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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 an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced. </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>.0013 BARAITSER-WINTER SYNDROME 2</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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ACTG1, ARG254TRP
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<br />
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SNP: rs281875328,
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gnomAD: rs281875328,
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ClinVar: RCV000022426, RCV000059729, RCV001291054, RCV001851994, RCV003137540
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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 an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-T transition at nucleotide 760 of the ACTG1 gene, resulting in an arg-to-trp substitution at codon 254 (R254W). This mutation occurred de novo in the patient and was not observed in 195 other exomes sequenced. </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>.0014 BARAITSER-WINTER SYNDROME 2</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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ACTG1, ARG256TRP
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<br />
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|
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SNP: rs281875329,
|
|
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|
|
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gnomAD: rs281875329,
|
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|
|
|
|
ClinVar: RCV000022427, RCV000059730, RCV000770804, RCV001291159
|
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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 an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-T transition at nucleotide 766 of the ACTG1 gene, resulting in an arg-to-trp substitution at codon 256 (R256W). This mutation occurred de novo in the patient and was not observed in 184 other exomes sequenced. </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>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
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<p />
|
|
</div>
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<div>
|
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<ol>
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Baraitser, M., Winter, R. M.
|
|
<strong>Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.</strong>
|
|
J. Med. Genet. 25: 41-43, 1988.
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[PubMed: 3351890]
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|
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[Full Text: https://doi.org/10.1136/jmg.25.1.41]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Chou, C.-C., Davis, R. C., Fuller, M. L., Slovin, J. P., Wong, A., Wright, J., Kania, S., Shaked, R., Gatti, R. A., Salser, W. A.
|
|
<strong>Gamma-actin: unusual mRNA 3-prime-untranslated sequence conservation and amino acid substitutions that may be cancer related.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 2575-2579, 1987.
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[PubMed: 3472224]
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[Full Text: https://doi.org/10.1073/pnas.84.9.2575]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
DeWan, A. T., Parrado, A. R., Leal, S. M.
|
|
<strong>A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval.</strong>
|
|
Clin. Genet. 63: 39-45, 2003.
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[PubMed: 12519370]
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[Full Text: https://doi.org/10.1034/j.1399-0004.2003.630106.x]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Erba, H. P., Eddy, R., Shows, T., Kedes, L., Gunning, P.
|
|
<strong>Structure, chromosome location, and expression of the human gamma-actin gene: differential evolution, location, and expression of the cytoskeletal beta- and gamma-actin genes.</strong>
|
|
Molec. Cell. Biol. 8: 1775-1789, 1988.
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[PubMed: 2837653]
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[Full Text: https://doi.org/10.1128/mcb.8.4.1775-1789.1988]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Erba, H. P., Gunning, P., Kedes, L.
|
|
<strong>Nucleotide sequence of the human gamma cytoskeletal actin mRNA: anomalous evolution of vertebrate non-muscle actin genes.</strong>
|
|
Nucleic Acids Res. 14: 5275-5294, 1986.
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|
|
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|
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[PubMed: 3737401]
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|
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[Full Text: https://doi.org/10.1093/nar/14.13.5275]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gunning, P., Ponte, P., Okayama, H., Engel, J., Blau, H., Kedes, L.
|
|
<strong>Isolation and characterization of full-length cDNA clones for human alpha-, beta-, and gamma-actin mRNAs: skeletal but not cytoplasmic actins have an amino-terminal cysteine that is subsequently removed.</strong>
|
|
Molec. Cell. Biol. 3: 787-795, 1983.
|
|
|
|
|
|
[PubMed: 6865942]
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|
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|
|
[Full Text: https://doi.org/10.1128/mcb.3.5.787-795.1983]
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|
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</p>
|
|
</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Kusner, D. J., Barton, J. A., Wen, K.-K., Wang, X., Rubenstein, P. A., Iyer, S. S.
|
|
<strong>Regulation of phospholipase D activity by actin: actin exerts bidirectional modulation of mammalian phospolipase (sic) D activity in a polymerization-dependent, isoform-specific manner.</strong>
|
|
J. Biol. Chem. 277: 50683-50692, 2002.
|
|
|
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|
|
[PubMed: 12388543]
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|
|
[Full Text: https://doi.org/10.1074/jbc.M209221200]
|
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|
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</p>
|
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</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Loisel, T. P., Boujemaa, R., Pantaloni, D., Carlier, M.-F.
|
|
<strong>Reconstitution of actin-based motility of Listeria and Shigella using pure proteins.</strong>
|
|
Nature 401: 613-616, 1999.
|
|
|
|
|
|
[PubMed: 10524632]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/44183]
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Morin, M., Bryan, K. E., Mayo-Merino, F., Goodyear, R., Mencia, A., Modamio-Hoybjor, S., del Castillo, I., Cabalka, J. M., Richardson, G., Moreno, F., Rubenstein, P. A., Moreno-Pelayo, M. A.
|
|
<strong>In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.</strong>
|
|
Hum. Molec. Genet. 18: 3075-3089, 2009.
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|
|
|
|
|
[PubMed: 19477959]
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|
|
[Full Text: https://doi.org/10.1093/hmg/ddp249]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Otterbein, L. R., Graceffa, P., Dominguez, R.
|
|
<strong>The crystal structure of uncomplexed actin in the ADP state.</strong>
|
|
Science 293: 708-711, 2001.
|
|
|
|
|
|
[PubMed: 11474115]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.1059700]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rendtorff, N. D., Zhu, M., Fagerheim, T., Antal, T. L., Jones, M., Teslovich, T. M., Gillanders, E. M., Barmada, M., Teig, E., Trent, J. M., Friderici, K. H., Stephan, D. A., Tranebjaerg, L.
|
|
<strong>A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.</strong>
|
|
Europ. J. Hum. Genet. 14: 1097-1105, 2006.
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|
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[PubMed: 16773128]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201670]
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|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Riviere, J.-B., van Bon, B. W. M., Hoischen, A., Kholmanskikh, S. S., O'Roak, B. J., Gilissen, C., Gijsen, S., Sullivan, C. T., Christian, S. L., Abdul-Rahman, O. A., Atkin, J. F., Chassaing, N., and 21 others.
|
|
<strong>De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.</strong>
|
|
Nature Genet. 44: 440-444, 2012.
|
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|
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|
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[PubMed: 22366783]
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|
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[Full Text: https://doi.org/10.1038/ng.1091]
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|
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Sonnemann, K. J., Fitzsimons, D. P., Patel, J. R., Liu, Y., Schneider, M. F., Moss, R. L., Ervasti, J. M.
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<strong>Cytoplasmic gamma-actin is not required for skeletal muscle development but its absence leads to a progressive myopathy.</strong>
|
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Dev. Cell 11: 387-397, 2006.
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[PubMed: 16950128]
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[Full Text: https://doi.org/10.1016/j.devcel.2006.07.001]
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|
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Teig, E.
|
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<strong>Hereditary progressive perceptive deafness in a family of 72 patients.</strong>
|
|
Acta Otolaryng. 65: 365-372, 1968.
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[PubMed: 5654493]
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|
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|
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|
|
</p>
|
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</li>
|
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<li>
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<p class="mim-text-font">
|
|
Tzima, E., Trotter, P. J., Orchard, M. A., Walker, J. H.
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<strong>Annexin V relocates to the platelet cytoskeleton upon activation and binds to a specific isoform of actin.</strong>
|
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Europ. J. Biochem. 267: 4720-4730, 2000.
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|
|
|
|
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[PubMed: 10903505]
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|
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[Full Text: https://doi.org/10.1046/j.1432-1327.2000.01525.x]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ueyama, H., Inazawa, J., Nishino, H., Ohkubo, I., Miwa, T.
|
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<strong>FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes.</strong>
|
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Cytogenet. Cell Genet. 74: 221-224, 1996.
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[PubMed: 8941379]
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[Full Text: https://doi.org/10.1159/000134420]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
van Wijk, E., Krieger, E., Kemperman, M. H., De Leenheer, E. M. R., Huygen, P. L. M., Cremers, C. W. R. J., Cremers, F. P. M., Kremer, H.
|
|
<strong>A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).</strong>
|
|
J. Med. Genet. 40: 879-884, 2003.
|
|
|
|
|
|
[PubMed: 14684684]
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|
|
[Full Text: https://doi.org/10.1136/jmg.40.12.879]
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</p>
|
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</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Yang, T., Smith, R.
|
|
<strong>A novel locus DFNA26 maps to chromosome 17q25 in two unrelated families with progressive autosomal dominant hearing loss. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 67 (suppl. 2): 300 only, 2000.
|
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|
|
</p>
|
|
</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Zhang, F., Saha, S., Shabalina, S. A., Kashina, A.
|
|
<strong>Differential arginylation of actin isoforms is regulated by coding sequence-dependent degradation.</strong>
|
|
Science 329: 1534-1537, 2010.
|
|
|
|
|
|
[PubMed: 20847274]
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|
|
[Full Text: https://doi.org/10.1126/science.1191701]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Zhu, M., Yang, T., Wei, S., DeWan, A. T., Morell, R. J., Elfenbein, J. L., Fisher, R. A., Leal, S. M., Smith, R. J. H., Friderici, K. H.
|
|
<strong>Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).</strong>
|
|
Am. J. Hum. Genet. 73: 1082-1091, 2003.
|
|
|
|
|
|
[PubMed: 13680526]
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|
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[Full Text: https://doi.org/10.1086/379286]
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</p>
|
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</li>
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</ol>
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<div>
|
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<br />
|
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</div>
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</div>
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</div>
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<div>
|
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Ada Hamosh - updated : 4/18/2012<br>Ada Hamosh - updated : 11/2/2010<br>George E. Tiller - updated : 6/28/2010<br>Cassandra L. Kniffin - updated : 11/3/2006<br>Patricia A. Hartz - updated : 10/4/2006<br>Natalie E. Krasikov - updated : 3/30/2004<br>Victor A. McKusick - updated : 10/27/2003<br>Ada Hamosh - updated : 8/14/2001<br>Ada Hamosh - updated : 10/12/1999
|
|
</span>
|
|
</div>
|
|
</div>
|
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/4/1986
|
|
</span>
|
|
</div>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 01/03/2018<br>carol : 08/05/2016<br>alopez : 04/19/2012<br>terry : 4/18/2012<br>alopez : 11/9/2010<br>terry : 11/2/2010<br>wwang : 7/16/2010<br>terry : 6/28/2010<br>wwang : 5/7/2009<br>terry : 8/6/2007<br>alopez : 7/25/2007<br>terry : 7/24/2007<br>carol : 11/3/2006<br>ckniffin : 11/3/2006<br>mgross : 10/11/2006<br>mgross : 10/11/2006<br>mgross : 10/11/2006<br>terry : 10/4/2006<br>terry : 10/4/2006<br>carol : 4/8/2004<br>terry : 3/30/2004<br>carol : 10/28/2003<br>carol : 10/28/2003<br>terry : 10/27/2003<br>alopez : 8/17/2001<br>terry : 8/14/2001<br>mgross : 10/15/1999<br>alopez : 10/12/1999<br>alopez : 10/12/1999<br>mark : 3/20/1997<br>terry : 1/13/1997<br>supermim : 3/16/1992<br>carol : 7/3/1991<br>carol : 3/19/1991<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>root : 6/3/1988
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</span>
|
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</div>
|
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