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<title>
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Entry
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- *606808 - MYOSIN IIIA; MYO3A
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- OMIM
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</ul>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<li role="separator" class="divider"></li>
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<a href="/history"> Search History </a>
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</ul>
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</form>
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<p />
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*606808</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li 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/606808">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div 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=ENSG00000095777;t=ENST00000642920" 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=53904" 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=606808" 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=ENSG00000095777;t=ENST00000642920" 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_001368265,NM_017433,XM_011519498,XM_011519499,XM_011519500,XM_011519502,XM_011519503,XM_011519505,XM_011519506,XM_011519508,XM_011519510,XM_011519511,XM_011519512,XM_011519513,XM_047425355,XM_047425356,XM_047425357,XM_047425358,XM_047425359,XM_047425360,XM_047425361,XM_047425363,XR_930494" 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_017433" 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=606808" 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=06008&isoform_id=06008_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/MYO3A" 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/7958618,21217671,28279745,71051525,111054911,119606511,145275208,160112826,308219940,767960106,767960108,767960110,767960114,767960117,767960121,767960123,767960129,767960133,767960135,767960137,767960139,1565276275,2217277567,2217277569,2217277571,2217277575,2217277577,2217277579,2217277581,2217277583,2462519660,2462519662,2462519664,2462519666,2462519668,2462519670,2462519672,2462519674,2462519676,2462519678,2462519680,2462519682,2462519684,2462519686,2462519689,2462519691,2462519693,2462519695,2462519697,2462519699" 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/Q8NEV4" 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=53904" 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=ENSG00000095777;t=ENST00000642920" 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=MYO3A" 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=MYO3A" 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+53904" 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/MYO3A" 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:53904" 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/53904" 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=chr10&hgg_gene=ENST00000642920.2&hgg_start=25934229&hgg_end=26212532&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
|
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7601" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:7601" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606808[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=606808[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000095777" 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=MYO3A" 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=MYO3A" 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=MYO3A" 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=MYO3A&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/PA31405" 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:7601" 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/FBgn0002938.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:2183924" 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/MYO3A#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:2183924" 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/53904/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=53904" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-041026-4" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<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:53904" 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=MYO3A&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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606808
|
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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>
|
|
<span class="mim-font">
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MYOSIN IIIA; MYO3A
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</span>
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MYO3A" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MYO3A</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>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/10/112?start=-3&limit=10&highlight=112">10p12.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr10:25934229-26212532&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'})">10:25,934,229-26,212,532</a> </span>
|
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</em>
|
|
</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">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=620722,607101" 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>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
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<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/10/112?start=-3&limit=10&highlight=112">
|
|
10p12.1
|
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<p>Actin-dependent motor proteins are members of the large myosin superfamily and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as MYO3A, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors (summary by <a href="#4" class="mim-tip-reference" title="Dose, A. C., Burnside, B. <strong>Cloning and chromosomal localization of a human class III myosin.</strong> Genomics 67: 333-342, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10936054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10936054</a>] [<a href="https://doi.org/10.1006/geno.2000.6256" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10936054">Dose and Burnside, 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10936054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By RT-PCR with degenerate primers of a retina and retinal pigment epithelium (RPE) cell line cDNA library, <a href="#4" class="mim-tip-reference" title="Dose, A. C., Burnside, B. <strong>Cloning and chromosomal localization of a human class III myosin.</strong> Genomics 67: 333-342, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10936054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10936054</a>] [<a href="https://doi.org/10.1006/geno.2000.6256" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10936054">Dose and Burnside (2000)</a> isolated a cDNA encoding MYO3A. The deduced 1,616-amino acid protein contains an N-terminal kinase domain with homology to the serine/threonine kinase HGK (MAP4K4; <a href="/entry/604666">604666</a>), followed by a motor region and 3 approximately 23-residue IQ motifs, which are involved in calmodulin/light chain binding. Two of the IQ motifs are in conserved locations in the neck region, while the third is uniquely located in the center of the tail domain. Northern blot analysis revealed a 6.5-kb transcript that was weakly expressed in pancreas and strongly expressed in retina. It was not expressed in a native RPE/choroid mixture, but it was readily detectable in an RPE cell line. A probe to the kinase domain also detected transcripts of 4.0 and 2.5 kb. <a href="#4" class="mim-tip-reference" title="Dose, A. C., Burnside, B. <strong>Cloning and chromosomal localization of a human class III myosin.</strong> Genomics 67: 333-342, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10936054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10936054</a>] [<a href="https://doi.org/10.1006/geno.2000.6256" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10936054">Dose and Burnside (2000)</a> proposed that the calmodulin-binding sites of MYO3A may be important in vision in accordance with their role in the ninaC protein in Drosophila photoreceptors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10936054" 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="#9" class="mim-tip-reference" title="Walsh, V. L., Raviv, D., Dror, A. A., Shahin, H., Walsh, T., Kanaan, M. N., Avraham, K. B., King, M.-C. <strong>A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA.</strong> Mammalian Genome 22: 170-177, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21165622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21165622</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21165622[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/10.1007/s00335-010-9310-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21165622">Walsh et al. (2011)</a> stated that mouse Myo3a is expressed in vestibular hair cells and in the inner ear, where it localizes to stereocilia tips in a thimble-like pattern. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21165622" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By somatic cell hybrid and radiation hybrid analyses, <a href="#4" class="mim-tip-reference" title="Dose, A. C., Burnside, B. <strong>Cloning and chromosomal localization of a human class III myosin.</strong> Genomics 67: 333-342, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10936054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10936054</a>] [<a href="https://doi.org/10.1006/geno.2000.6256" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10936054">Dose and Burnside (2000)</a> mapped the MYO3A gene to chromosome 10p11.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10936054" 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="#7" class="mim-tip-reference" title="Mecklenburg, K. L., Freed, S. A., Raval, M., Quintero, O. A., Yengo, C. M., O'Tousa, J. E. <strong>Invertebrate and vertebrate class III myosins interact with MORN repeat-containing adaptor proteins.</strong> PLoS One 10: e0122502, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25822849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25822849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25822849[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/10.1371/journal.pone.0122502" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25822849">Mecklenburg et al. (2015)</a> found that Drosophila and human MORN4 (<a href="/entry/617736">617736</a>) bound to MYO3A, but not MYO3B (<a href="/entry/610040">610040</a>). In transfected COS-7 cells, human MORN4 and MYO3A colocalized to actin-rich filopodia extensions. Deletion analysis showed that the tail domain of MYO3A was required for binding to MORN4. In the absence of MYO3A, MORN4 showed diffuse cytoplasmic and nuclear localization, but in the presence of MYO3A, MORN4 localized to filopodia tips. MORN4 also enhanced tip localization of MYO3A. <a href="#7" class="mim-tip-reference" title="Mecklenburg, K. L., Freed, S. A., Raval, M., Quintero, O. A., Yengo, C. M., O'Tousa, J. E. <strong>Invertebrate and vertebrate class III myosins interact with MORN repeat-containing adaptor proteins.</strong> PLoS One 10: e0122502, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25822849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25822849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25822849[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/10.1371/journal.pone.0122502" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25822849">Mecklenburg et al. (2015)</a> hypothesized that MORN4 functions as an adaptor protein that may enhance the association of MYO3A with membranes or facilitate its association with scaffolding and actin-based structures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25822849" 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="#8" class="mim-tip-reference" title="Walsh, T., Walsh, V., Vreugde, S., Hertzano, R., Shahin, H., Haika, S., Lee, M. K., Kanaan, M., King, M.-C., Avraham, K. B. <strong>From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.</strong> Proc. Nat. Acad. Sci. 99: 7518-7523, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12032315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12032315</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12032315[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.102091699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12032315">Walsh et al. (2002)</a> showed that normal hearing in humans requires myosin IIIA, which is the human homolog of ninaC, a class III myosin that is required for normal vision in Drosophila. In an extended Israeli family, they showed that nonsyndromic progressive hearing loss (DFNB30; <a href="/entry/607101">607101</a>) is caused by 3 different recessive, loss-of-function mutations in myosin IIIA (<a href="#0001">606808.0001</a>-<a href="#0003">606808.0003</a>). Of 18 affected relatives in this family, 7 were homozygous and 11 were compound heterozygous for pairs of mutant alleles. Expression of mammalian myosin IIIA is highly restricted, with the strongest expression in retina and cochlea. The involvement of homologous class III myosins in both Drosophila vision and human hearing is an evolutionary link between these sensory systems. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12032315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Lebanese woman with cutis laxa type IA (ARCL1A; <a href="/entry/620780">620780</a>), who also had mild bilateral hearing impairment, <a href="#1" class="mim-tip-reference" title="Bizzari, S., El-Bazzal, L., Nair, P., Younan, A., Stora, S., Mehawej, C., El-Hayek, S., Delague, V., Megarbane, A. <strong>Recessive marfanoid syndrome with herniation associated with a homozygous mutation in fibulin-3.</strong> Europ. J. Med. Genet. 63: 103869, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32006683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32006683</a>] [<a href="https://doi.org/10.1016/j.ejmg.2020.103869" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32006683">Bizzari et al. (2020)</a> identified homozygosity for a 2-bp deletion (c.1370_1371delGA; <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs760866131;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs760866131</a>) in the MYO3A gene, causing a frameshift predicted to result in a premature termination codon (Arg457AsnfsTer25). The mutation was not present in her brother, who also had ARCL1A but had normal hearing. The mutation was not found in the Saudi Human Genome Program database, but was present in the gnomAD database at a minor allele frequency of 0.001%, only in heterozygous state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32006683" 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>Autosomal Dominant Deafness 90</em></strong></p><p>
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In 36 patients from 2 families with DFNA90 (<a href="/entry/620722">620722</a>), <a href="#2" class="mim-tip-reference" title="Dantas, V. G. L., Raval, M. H., Ballesteros, A., Cui, R., Gunther, L. K., Yamamoto, G. L., Alves, L. U., Bueno, A. S., Lezirovitz, K., Pirana, S., Mendes, B. C. A., Yengo, C. M., Kachar, B., Mingroni-Netto, R. C. <strong>Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.</strong> Sci. Rep. 8: 8706, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29880844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29880844</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29880844[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/s41598-018-26818-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29880844">Dantas et al. (2018)</a> identified heterozygosity for a missense mutation in the MYO3A gene (L697W; <a href="#0004">606808.0004</a>). Two individuals, aged 28 and 29 years, from family 1 and 1 individual, aged 30 years, from family 2 were heterozygous for the L697W mutation but did not have hearing loss. <a href="#2" class="mim-tip-reference" title="Dantas, V. G. L., Raval, M. H., Ballesteros, A., Cui, R., Gunther, L. K., Yamamoto, G. L., Alves, L. U., Bueno, A. S., Lezirovitz, K., Pirana, S., Mendes, B. C. A., Yengo, C. M., Kachar, B., Mingroni-Netto, R. C. <strong>Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.</strong> Sci. Rep. 8: 8706, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29880844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29880844</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29880844[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/s41598-018-26818-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29880844">Dantas et al. (2018)</a> noted that these patients were at or below the average age of hearing loss onset in the families and hypothesized that these were cases of nonpenetrance or late-onset. Expression of the L697W mutation in COS cells resulted in a lower maximal ATPase rate and a decrease in actin sliding activity compared to wildtype MYO3A. The mutant MYO3A also resulted in decreased actin protrusion initiation and elongation of stereocilia. When mutant and wildtype MYO3A were coexpressed, the mutant MYO3A displaced wildtype MYO3A at stereocilia tips, resulting in a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29880844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Gunther, L. K., Cirilo, J. A., Desetty, R., Yengo, C. M. <strong>Deafness mutation in the MYO3A motor domain impairs actin protrusion elongation mechanism.</strong> Molec. Biol. Cell 33: ar5, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34788109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34788109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34788109[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/10.1091/mbc.E21-05-0232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34788109">Gunther et al. (2022)</a> characterized the L697W mutation in the MYO3A gene (<a href="#0004">606808.0004</a>) in COS-7 cells. The mutant MYO3A protein displayed delayed ATP hydrolysis and subsequent delayed release of ADP, thus slowing detachment. Further studies demonstrated that mutant MYO3A localized properly to the filopodia tip but resulted in reduced velocity of filopodia extension, average filopodia length, and speed of actin gliding. <a href="#6" class="mim-tip-reference" title="Gunther, L. K., Cirilo, J. A., Desetty, R., Yengo, C. M. <strong>Deafness mutation in the MYO3A motor domain impairs actin protrusion elongation mechanism.</strong> Molec. Biol. Cell 33: ar5, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34788109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34788109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34788109[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/10.1091/mbc.E21-05-0232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34788109">Gunther et al. (2022)</a> concluded that motor activity of MYO3A is important for regulation of actin length protrusion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34788109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Doll, J., Hofrichter, M. A. H., Bahena, P., Heihoff, A., Segebarth, D., Muller, T., Dittrich, M., Haaf, T., Vona, B. <strong>A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family.</strong> Molec. Genet. Genomic Med. 8: e1343, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32519820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32519820</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32519820[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/10.1002/mgg3.1343" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32519820">Doll et al. (2020)</a> identified a heterozygous mutation in the MYO3A gene (L239P; <a href="#0005">606808.0005</a>) in 7 affected members of a 3-generation family with DFNA90. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32519820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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By whole-exome sequencing in a family segregating nonsyndromic hearing loss, <a href="#5" class="mim-tip-reference" title="Grati, M., Yan, D., Raval, M. H., Walsh, T., Ma, Q., Chakchouk, I., Kannan-Sundhari, A., Mittal, R., Masmoudi, S., Blanton, S. H., Tekin, M., King, M. C., Yengo, C. M., Liu, X. Z. <strong>MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.</strong> Hum. Mutat. 37: 481-487, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26841241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26841241</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26841241[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/10.1002/humu.22961" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26841241">Grati et al. (2016)</a> identified a possibly pathogenic heterozygous missense variant (G488E; c.1463G-A, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs145970949;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs145970949</a>) in the MYO3A gene. The G488E variant was present in the affected father and his 3 affected children; however, the mother also had hearing loss and no causative gene mutations were reported for her. Expression of MYO3A with the G488D mutation resulted in inability of the mutant protein to accumulate in or elongate filopodia tips. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26841241" 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="#9" class="mim-tip-reference" title="Walsh, V. L., Raviv, D., Dror, A. A., Shahin, H., Walsh, T., Kanaan, M. N., Avraham, K. B., King, M.-C. <strong>A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA.</strong> Mammalian Genome 22: 170-177, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21165622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21165622</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21165622[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/10.1007/s00335-010-9310-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21165622">Walsh et al. (2011)</a> created a line of mice carrying the homozygous nonsense mutation Y1041X, corresponding to human Y1042X. Homozygous mutant mice displayed significant and progressive hearing loss, but no vestibular abnormalities. Hearing loss was accompanied by degenerative changes in both inner and outer hair cells, with greater hair cell loss toward the base, reflecting more severe hearing loss at higher frequencies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21165622" 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=606808[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs193919333 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs193919333;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/rs193919333?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=rs193919333" 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=rs193919333" 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=RCV000004229" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004229" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004229</a>
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<p><a href="#8" class="mim-tip-reference" title="Walsh, T., Walsh, V., Vreugde, S., Hertzano, R., Shahin, H., Haika, S., Lee, M. K., Kanaan, M., King, M.-C., Avraham, K. B. <strong>From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.</strong> Proc. Nat. Acad. Sci. 99: 7518-7523, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12032315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12032315</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12032315[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.102091699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12032315">Walsh et al. (2002)</a> studied a family that traced its ancestry to the Jewish community of Mosul, Iraq. This community dated to 586 B.C. and was highly endogamous, with considerable emigration but little immigration, for more than 2,500 years. Most remaining Jewish residents of Mosul, including this family, migrated to Israel in 1950-1951. Three generations of the family had experienced bilateral progressive hearing loss, which first affected the high frequencies (DFNB30; <a href="/entry/607101">607101</a>). Hearing loss began in the second decade, and by age 50, was severe in high and middle frequencies and moderate at low frequencies. Vision and balance of all affected individuals were normal. Inheritance of deafness in this family was likely recessive with age-dependent penetrance, although dominant inheritance could not be excluded. Sequencing of the MYO3A gene from genomic DNA revealed 3 different mutations of this gene cosegregating with hearing loss. A nonsense mutation at codon 1043, 3126T-G, caused protein truncation at the junction of the head and neck domains of the gene and was associated with 3 different extended haplotypes in the family. A mutation in the splice acceptor of intron 17, 1777(-12)G-A (<a href="#0002">606808.0002</a>), led to deletion of exon 18 and protein truncation at codon 668 in the myosin head domain. A mutation in the splice acceptor of intron 8, 732(-2)A-G (<a href="#0003">606808.0003</a>), led to an unstable message, as revealed by the absence of message from this allele in persons who carried the mutation in their genomic DNA. These 3 mutations fully explained the hearing loss in this family, in that there was complete concordance of MYO3A genotypes and hearing loss. All homozygotes and compound heterozygotes were deaf; all simple heterozygotes were carriers with normal hearing. Variability in age of onset of hearing loss could be explained. Between age 25 and 50 years, hearing across all frequencies was significantly poorer among individuals homozygous for the nonsense mutation than among individuals heterozygous for the nonsense mutation in combination with either of the splice mutations. Hearing loss was equally severe in all affected individuals by the sixth decade. <a href="#9" class="mim-tip-reference" title="Walsh, V. L., Raviv, D., Dror, A. A., Shahin, H., Walsh, T., Kanaan, M. N., Avraham, K. B., King, M.-C. <strong>A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA.</strong> Mammalian Genome 22: 170-177, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21165622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21165622</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21165622[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/10.1007/s00335-010-9310-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21165622">Walsh et al. (2011)</a> found that all ocular motor and vestibular measures were normal in family N, subject IV:2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12032315+21165622" 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>See <a href="#0001">606808.0001</a> and <a href="#8" class="mim-tip-reference" title="Walsh, T., Walsh, V., Vreugde, S., Hertzano, R., Shahin, H., Haika, S., Lee, M. K., Kanaan, M., King, M.-C., Avraham, K. B. <strong>From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.</strong> Proc. Nat. Acad. Sci. 99: 7518-7523, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12032315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12032315</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12032315[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.102091699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12032315">Walsh et al. (2002)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12032315" 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>.0003 DEAFNESS, AUTOSOMAL RECESSIVE 30</strong>
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MYO3A, IVS8, A-G, -2
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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> rs1023746725 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1023746725;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/rs1023746725?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=rs1023746725" 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=rs1023746725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004231" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004231" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004231</a>
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<p>See <a href="#0001">606808.0001</a> and <a href="#8" class="mim-tip-reference" title="Walsh, T., Walsh, V., Vreugde, S., Hertzano, R., Shahin, H., Haika, S., Lee, M. K., Kanaan, M., King, M.-C., Avraham, K. B. <strong>From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.</strong> Proc. Nat. Acad. Sci. 99: 7518-7523, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12032315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12032315</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12032315[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.102091699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12032315">Walsh et al. (2002)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12032315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 DEAFNESS, AUTOSOMAL DOMINANT 90</strong>
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MYO3A, LEU697TRP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1564573788 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1564573788;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=rs1564573788" 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=rs1564573788" 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=RCV000754837 OR RCV001269336 OR RCV001540164 OR RCV003768264" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000754837, RCV001269336, RCV001540164, RCV003768264" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000754837...</a>
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<p>In 36 patients from 2 Brazilian families with autosomal dominant hearing loss-90 (DFNA90; <a href="/entry/620722">620722</a>), <a href="#2" class="mim-tip-reference" title="Dantas, V. G. L., Raval, M. H., Ballesteros, A., Cui, R., Gunther, L. K., Yamamoto, G. L., Alves, L. U., Bueno, A. S., Lezirovitz, K., Pirana, S., Mendes, B. C. A., Yengo, C. M., Kachar, B., Mingroni-Netto, R. C. <strong>Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.</strong> Sci. Rep. 8: 8706, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29880844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29880844</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29880844[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/s41598-018-26818-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29880844">Dantas et al. (2018)</a> identified heterozygosity for a c.2090T-G transversion (c.2090T-G, NM_017433.4) in the MYO3A gene, resulting in a leu697-to-trp (L697W) substitution. The mutation was identified by linkage analysis, whole-exome sequencing, and Sanger sequencing. The variant was not present in the 1000 Genomes Project, ESP, and ExAC databases. Expression of the L697W mutation in COS cells resulted in a lower maximal ATPase rate and a decrease in actin sliding activity compared to wildtype MYO3A. The mutant MYO3A also resulted in decreased actin protrusion initiation and elongation of stereocilia. When mutant and wildtype MYO3A were coexpressed, the mutant MYO3A displaced wildtype MYO3A at stereocilia tips, resulting in a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29880844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Gunther, L. K., Cirilo, J. A., Desetty, R., Yengo, C. M. <strong>Deafness mutation in the MYO3A motor domain impairs actin protrusion elongation mechanism.</strong> Molec. Biol. Cell 33: ar5, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34788109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34788109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34788109[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/10.1091/mbc.E21-05-0232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34788109">Gunther et al. (2022)</a> characterized the L697W mutation in the MYO3A gene in COS-7 cells. The mutant MYO3A protein displayed delayed ATP hydrolysis and subsequent delayed release of ADP, thus slowing detachment. Further studies demonstrated that the mutant MYO3A localized properly to the filopodia tip but resulted in reduced velocity of filopodia extension, average filopodia length, and speed of actin gliding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34788109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0005 DEAFNESS, AUTOSOMAL DOMINANT 30</strong>
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MYO3A, LEU239PRO
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003991513" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003991513" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003991513</a>
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<p>In 7 patients from a 3-generation family with autosomal dominant deafness-90 (DFNA90; <a href="/entry/620722">620722</a>), <a href="#3" class="mim-tip-reference" title="Doll, J., Hofrichter, M. A. H., Bahena, P., Heihoff, A., Segebarth, D., Muller, T., Dittrich, M., Haaf, T., Vona, B. <strong>A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family.</strong> Molec. Genet. Genomic Med. 8: e1343, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32519820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32519820</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32519820[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/10.1002/mgg3.1343" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32519820">Doll et al. (2020)</a> identified heterozygosity for a c.716T-C transition (c.716T-C, NM_017433.4) in exon 8 of the MYO3A gene, resulting in a leu239-to-pro (L239P) substitution. The mutation was identified by whole-exome sequencing in the index patient and segregated with disease in the family. Functional studies in patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32519820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Bizzari2020" class="mim-anchor"></a>
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Bizzari, S., El-Bazzal, L., Nair, P., Younan, A., Stora, S., Mehawej, C., El-Hayek, S., Delague, V., Megarbane, A.
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<strong>Recessive marfanoid syndrome with herniation associated with a homozygous mutation in fibulin-3.</strong>
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Europ. J. Med. Genet. 63: 103869, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32006683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32006683</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32006683" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ejmg.2020.103869" target="_blank">Full Text</a>]
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Dantas, V. G. L., Raval, M. H., Ballesteros, A., Cui, R., Gunther, L. K., Yamamoto, G. L., Alves, L. U., Bueno, A. S., Lezirovitz, K., Pirana, S., Mendes, B. C. A., Yengo, C. M., Kachar, B., Mingroni-Netto, R. C.
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<strong>Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.</strong>
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Sci. Rep. 8: 8706, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29880844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29880844</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29880844[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=29880844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41598-018-26818-2" target="_blank">Full Text</a>]
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<a id="Doll2020" class="mim-anchor"></a>
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Doll, J., Hofrichter, M. A. H., Bahena, P., Heihoff, A., Segebarth, D., Muller, T., Dittrich, M., Haaf, T., Vona, B.
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<strong>A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family.</strong>
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Molec. Genet. Genomic Med. 8: e1343, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32519820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32519820</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32519820[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=32519820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/mgg3.1343" target="_blank">Full Text</a>]
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Dose, A. C., Burnside, B.
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<strong>Cloning and chromosomal localization of a human class III myosin.</strong>
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Genomics 67: 333-342, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10936054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10936054</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10936054" 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/10.1006/geno.2000.6256" target="_blank">Full Text</a>]
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<a id="Grati2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Grati, M., Yan, D., Raval, M. H., Walsh, T., Ma, Q., Chakchouk, I., Kannan-Sundhari, A., Mittal, R., Masmoudi, S., Blanton, S. H., Tekin, M., King, M. C., Yengo, C. M., Liu, X. Z.
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<strong>MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.</strong>
|
|
Hum. Mutat. 37: 481-487, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26841241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26841241</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26841241[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=26841241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.22961" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Gunther2022" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gunther, L. K., Cirilo, J. A., Desetty, R., Yengo, C. M.
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<strong>Deafness mutation in the MYO3A motor domain impairs actin protrusion elongation mechanism.</strong>
|
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Molec. Biol. Cell 33: ar5, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34788109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34788109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34788109[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=34788109" 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/10.1091/mbc.E21-05-0232" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Mecklenburg2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mecklenburg, K. L., Freed, S. A., Raval, M., Quintero, O. A., Yengo, C. M., O'Tousa, J. E.
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<strong>Invertebrate and vertebrate class III myosins interact with MORN repeat-containing adaptor proteins.</strong>
|
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PLoS One 10: e0122502, 2015. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25822849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25822849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25822849[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=25822849" 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/10.1371/journal.pone.0122502" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Walsh2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Walsh, T., Walsh, V., Vreugde, S., Hertzano, R., Shahin, H., Haika, S., Lee, M. K., Kanaan, M., King, M.-C., Avraham, K. B.
|
|
<strong>From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.</strong>
|
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Proc. Nat. Acad. Sci. 99: 7518-7523, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12032315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12032315</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12032315[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=12032315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.102091699" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Walsh2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Walsh, V. L., Raviv, D., Dror, A. A., Shahin, H., Walsh, T., Kanaan, M. N., Avraham, K. B., King, M.-C.
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<strong>A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA.</strong>
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Mammalian Genome 22: 170-177, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21165622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21165622</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21165622[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=21165622" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00335-010-9310-6" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 04/05/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="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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Hilary J. Vernon - updated : 02/16/2024<br>Patricia A. Hartz - updated : 10/18/2017<br>Patricia A. Hartz - updated : 7/13/2012<br>Victor A. McKusick - updated : 6/17/2002
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Paul J. Converse : 3/29/2002
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/05/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 04/05/2024<br>carol : 02/19/2024<br>carol : 02/16/2024<br>mgross : 10/18/2017<br>alopez : 08/22/2012<br>terry : 7/13/2012<br>carol : 6/2/2005<br>joanna : 7/17/2002<br>cwells : 7/11/2002<br>cwells : 7/9/2002<br>terry : 6/21/2002<br>terry : 6/17/2002<br>mgross : 3/29/2002
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 606808
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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MYOSIN IIIA; MYO3A
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MYO3A</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 10p12.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 10:25,934,229-26,212,532 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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10p12.1
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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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Deafness, autosomal dominant 90
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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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620722
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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Deafness, autosomal recessive 30
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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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607101
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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 recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Actin-dependent motor proteins are members of the large myosin superfamily and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as MYO3A, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors (summary by Dose and Burnside, 2000). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By RT-PCR with degenerate primers of a retina and retinal pigment epithelium (RPE) cell line cDNA library, Dose and Burnside (2000) isolated a cDNA encoding MYO3A. The deduced 1,616-amino acid protein contains an N-terminal kinase domain with homology to the serine/threonine kinase HGK (MAP4K4; 604666), followed by a motor region and 3 approximately 23-residue IQ motifs, which are involved in calmodulin/light chain binding. Two of the IQ motifs are in conserved locations in the neck region, while the third is uniquely located in the center of the tail domain. Northern blot analysis revealed a 6.5-kb transcript that was weakly expressed in pancreas and strongly expressed in retina. It was not expressed in a native RPE/choroid mixture, but it was readily detectable in an RPE cell line. A probe to the kinase domain also detected transcripts of 4.0 and 2.5 kb. Dose and Burnside (2000) proposed that the calmodulin-binding sites of MYO3A may be important in vision in accordance with their role in the ninaC protein in Drosophila photoreceptors. </p><p>Walsh et al. (2011) stated that mouse Myo3a is expressed in vestibular hair cells and in the inner ear, where it localizes to stereocilia tips in a thimble-like pattern. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>By somatic cell hybrid and radiation hybrid analyses, Dose and Burnside (2000) mapped the MYO3A gene to chromosome 10p11.1. </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>Mecklenburg et al. (2015) found that Drosophila and human MORN4 (617736) bound to MYO3A, but not MYO3B (610040). In transfected COS-7 cells, human MORN4 and MYO3A colocalized to actin-rich filopodia extensions. Deletion analysis showed that the tail domain of MYO3A was required for binding to MORN4. In the absence of MYO3A, MORN4 showed diffuse cytoplasmic and nuclear localization, but in the presence of MYO3A, MORN4 localized to filopodia tips. MORN4 also enhanced tip localization of MYO3A. Mecklenburg et al. (2015) hypothesized that MORN4 functions as an adaptor protein that may enhance the association of MYO3A with membranes or facilitate its association with scaffolding and actin-based structures. </p>
|
|
</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">
|
|
<p><strong><em>Autosomal Recessive Deafness 30</em></strong></p><p>
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Walsh et al. (2002) showed that normal hearing in humans requires myosin IIIA, which is the human homolog of ninaC, a class III myosin that is required for normal vision in Drosophila. In an extended Israeli family, they showed that nonsyndromic progressive hearing loss (DFNB30; 607101) is caused by 3 different recessive, loss-of-function mutations in myosin IIIA (606808.0001-606808.0003). Of 18 affected relatives in this family, 7 were homozygous and 11 were compound heterozygous for pairs of mutant alleles. Expression of mammalian myosin IIIA is highly restricted, with the strongest expression in retina and cochlea. The involvement of homologous class III myosins in both Drosophila vision and human hearing is an evolutionary link between these sensory systems. </p><p>In a Lebanese woman with cutis laxa type IA (ARCL1A; 620780), who also had mild bilateral hearing impairment, Bizzari et al. (2020) identified homozygosity for a 2-bp deletion (c.1370_1371delGA; rs760866131) in the MYO3A gene, causing a frameshift predicted to result in a premature termination codon (Arg457AsnfsTer25). The mutation was not present in her brother, who also had ARCL1A but had normal hearing. The mutation was not found in the Saudi Human Genome Program database, but was present in the gnomAD database at a minor allele frequency of 0.001%, only in heterozygous state. </p><p><strong><em>Autosomal Dominant Deafness 90</em></strong></p><p>
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In 36 patients from 2 families with DFNA90 (620722), Dantas et al. (2018) identified heterozygosity for a missense mutation in the MYO3A gene (L697W; 606808.0004). Two individuals, aged 28 and 29 years, from family 1 and 1 individual, aged 30 years, from family 2 were heterozygous for the L697W mutation but did not have hearing loss. Dantas et al. (2018) noted that these patients were at or below the average age of hearing loss onset in the families and hypothesized that these were cases of nonpenetrance or late-onset. Expression of the L697W mutation in COS cells resulted in a lower maximal ATPase rate and a decrease in actin sliding activity compared to wildtype MYO3A. The mutant MYO3A also resulted in decreased actin protrusion initiation and elongation of stereocilia. When mutant and wildtype MYO3A were coexpressed, the mutant MYO3A displaced wildtype MYO3A at stereocilia tips, resulting in a dominant-negative effect. </p><p>Gunther et al. (2022) characterized the L697W mutation in the MYO3A gene (606808.0004) in COS-7 cells. The mutant MYO3A protein displayed delayed ATP hydrolysis and subsequent delayed release of ADP, thus slowing detachment. Further studies demonstrated that mutant MYO3A localized properly to the filopodia tip but resulted in reduced velocity of filopodia extension, average filopodia length, and speed of actin gliding. Gunther et al. (2022) concluded that motor activity of MYO3A is important for regulation of actin length protrusion. </p><p>Doll et al. (2020) identified a heterozygous mutation in the MYO3A gene (L239P; 606808.0005) in 7 affected members of a 3-generation family with DFNA90. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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By whole-exome sequencing in a family segregating nonsyndromic hearing loss, Grati et al. (2016) identified a possibly pathogenic heterozygous missense variant (G488E; c.1463G-A, rs145970949) in the MYO3A gene. The G488E variant was present in the affected father and his 3 affected children; however, the mother also had hearing loss and no causative gene mutations were reported for her. Expression of MYO3A with the G488D mutation resulted in inability of the mutant protein to accumulate in or elongate filopodia tips. </p>
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</span>
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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>Walsh et al. (2011) created a line of mice carrying the homozygous nonsense mutation Y1041X, corresponding to human Y1042X. Homozygous mutant mice displayed significant and progressive hearing loss, but no vestibular abnormalities. Hearing loss was accompanied by degenerative changes in both inner and outer hair cells, with greater hair cell loss toward the base, reflecting more severe hearing loss at higher frequencies. </p>
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</span>
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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>5 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 RECESSIVE 30</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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MYO3A, TYR1043TER
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<br />
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SNP: rs193919333,
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gnomAD: rs193919333,
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ClinVar: RCV000004229
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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>Walsh et al. (2002) studied a family that traced its ancestry to the Jewish community of Mosul, Iraq. This community dated to 586 B.C. and was highly endogamous, with considerable emigration but little immigration, for more than 2,500 years. Most remaining Jewish residents of Mosul, including this family, migrated to Israel in 1950-1951. Three generations of the family had experienced bilateral progressive hearing loss, which first affected the high frequencies (DFNB30; 607101). Hearing loss began in the second decade, and by age 50, was severe in high and middle frequencies and moderate at low frequencies. Vision and balance of all affected individuals were normal. Inheritance of deafness in this family was likely recessive with age-dependent penetrance, although dominant inheritance could not be excluded. Sequencing of the MYO3A gene from genomic DNA revealed 3 different mutations of this gene cosegregating with hearing loss. A nonsense mutation at codon 1043, 3126T-G, caused protein truncation at the junction of the head and neck domains of the gene and was associated with 3 different extended haplotypes in the family. A mutation in the splice acceptor of intron 17, 1777(-12)G-A (606808.0002), led to deletion of exon 18 and protein truncation at codon 668 in the myosin head domain. A mutation in the splice acceptor of intron 8, 732(-2)A-G (606808.0003), led to an unstable message, as revealed by the absence of message from this allele in persons who carried the mutation in their genomic DNA. These 3 mutations fully explained the hearing loss in this family, in that there was complete concordance of MYO3A genotypes and hearing loss. All homozygotes and compound heterozygotes were deaf; all simple heterozygotes were carriers with normal hearing. Variability in age of onset of hearing loss could be explained. Between age 25 and 50 years, hearing across all frequencies was significantly poorer among individuals homozygous for the nonsense mutation than among individuals heterozygous for the nonsense mutation in combination with either of the splice mutations. Hearing loss was equally severe in all affected individuals by the sixth decade. Walsh et al. (2011) found that all ocular motor and vestibular measures were normal in family N, subject IV:2. </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 RECESSIVE 30</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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MYO3A, IVS17, G-A, -12
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<br />
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SNP: rs1564568849,
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ClinVar: RCV000004230
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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>See 606808.0001 and Walsh et al. (2002). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 DEAFNESS, AUTOSOMAL RECESSIVE 30</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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MYO3A, IVS8, A-G, -2
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<br />
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SNP: rs1023746725,
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gnomAD: rs1023746725,
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ClinVar: RCV000004231
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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>See 606808.0001 and Walsh et al. (2002). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 DEAFNESS, AUTOSOMAL DOMINANT 90</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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MYO3A, LEU697TRP
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<br />
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SNP: rs1564573788,
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ClinVar: RCV000754837, RCV001269336, RCV001540164, RCV003768264
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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 36 patients from 2 Brazilian families with autosomal dominant hearing loss-90 (DFNA90; 620722), Dantas et al. (2018) identified heterozygosity for a c.2090T-G transversion (c.2090T-G, NM_017433.4) in the MYO3A gene, resulting in a leu697-to-trp (L697W) substitution. The mutation was identified by linkage analysis, whole-exome sequencing, and Sanger sequencing. The variant was not present in the 1000 Genomes Project, ESP, and ExAC databases. Expression of the L697W mutation in COS cells resulted in a lower maximal ATPase rate and a decrease in actin sliding activity compared to wildtype MYO3A. The mutant MYO3A also resulted in decreased actin protrusion initiation and elongation of stereocilia. When mutant and wildtype MYO3A were coexpressed, the mutant MYO3A displaced wildtype MYO3A at stereocilia tips, resulting in a dominant-negative effect. </p><p>Gunther et al. (2022) characterized the L697W mutation in the MYO3A gene in COS-7 cells. The mutant MYO3A protein displayed delayed ATP hydrolysis and subsequent delayed release of ADP, thus slowing detachment. Further studies demonstrated that the mutant MYO3A localized properly to the filopodia tip but resulted in reduced velocity of filopodia extension, average filopodia length, and speed of actin gliding. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0005 DEAFNESS, AUTOSOMAL DOMINANT 30</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
|
MYO3A, LEU239PRO
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<br />
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|
|
ClinVar: RCV003991513
|
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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 7 patients from a 3-generation family with autosomal dominant deafness-90 (DFNA90; 620722), Doll et al. (2020) identified heterozygosity for a c.716T-C transition (c.716T-C, NM_017433.4) in exon 8 of the MYO3A gene, resulting in a leu239-to-pro (L239P) substitution. The mutation was identified by whole-exome sequencing in the index patient and segregated with disease in the family. Functional studies in patient cells were not performed. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
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<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Bizzari, S., El-Bazzal, L., Nair, P., Younan, A., Stora, S., Mehawej, C., El-Hayek, S., Delague, V., Megarbane, A.
|
|
<strong>Recessive marfanoid syndrome with herniation associated with a homozygous mutation in fibulin-3.</strong>
|
|
Europ. J. Med. Genet. 63: 103869, 2020.
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[PubMed: 32006683]
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[Full Text: https://doi.org/10.1016/j.ejmg.2020.103869]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dantas, V. G. L., Raval, M. H., Ballesteros, A., Cui, R., Gunther, L. K., Yamamoto, G. L., Alves, L. U., Bueno, A. S., Lezirovitz, K., Pirana, S., Mendes, B. C. A., Yengo, C. M., Kachar, B., Mingroni-Netto, R. C.
|
|
<strong>Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.</strong>
|
|
Sci. Rep. 8: 8706, 2018.
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|
|
[PubMed: 29880844]
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[Full Text: https://doi.org/10.1038/s41598-018-26818-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Doll, J., Hofrichter, M. A. H., Bahena, P., Heihoff, A., Segebarth, D., Muller, T., Dittrich, M., Haaf, T., Vona, B.
|
|
<strong>A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family.</strong>
|
|
Molec. Genet. Genomic Med. 8: e1343, 2020.
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[PubMed: 32519820]
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[Full Text: https://doi.org/10.1002/mgg3.1343]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Dose, A. C., Burnside, B.
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<strong>Cloning and chromosomal localization of a human class III myosin.</strong>
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Genomics 67: 333-342, 2000.
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[PubMed: 10936054]
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[Full Text: https://doi.org/10.1006/geno.2000.6256]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Grati, M., Yan, D., Raval, M. H., Walsh, T., Ma, Q., Chakchouk, I., Kannan-Sundhari, A., Mittal, R., Masmoudi, S., Blanton, S. H., Tekin, M., King, M. C., Yengo, C. M., Liu, X. Z.
|
|
<strong>MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.</strong>
|
|
Hum. Mutat. 37: 481-487, 2016.
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[PubMed: 26841241]
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[Full Text: https://doi.org/10.1002/humu.22961]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Gunther, L. K., Cirilo, J. A., Desetty, R., Yengo, C. M.
|
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<strong>Deafness mutation in the MYO3A motor domain impairs actin protrusion elongation mechanism.</strong>
|
|
Molec. Biol. Cell 33: ar5, 2022.
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|
[PubMed: 34788109]
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[Full Text: https://doi.org/10.1091/mbc.E21-05-0232]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Mecklenburg, K. L., Freed, S. A., Raval, M., Quintero, O. A., Yengo, C. M., O'Tousa, J. E.
|
|
<strong>Invertebrate and vertebrate class III myosins interact with MORN repeat-containing adaptor proteins.</strong>
|
|
PLoS One 10: e0122502, 2015. Note: Electronic Article.
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|
[PubMed: 25822849]
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[Full Text: https://doi.org/10.1371/journal.pone.0122502]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Walsh, T., Walsh, V., Vreugde, S., Hertzano, R., Shahin, H., Haika, S., Lee, M. K., Kanaan, M., King, M.-C., Avraham, K. B.
|
|
<strong>From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.</strong>
|
|
Proc. Nat. Acad. Sci. 99: 7518-7523, 2002.
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[PubMed: 12032315]
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[Full Text: https://doi.org/10.1073/pnas.102091699]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Walsh, V. L., Raviv, D., Dror, A. A., Shahin, H., Walsh, T., Kanaan, M. N., Avraham, K. B., King, M.-C.
|
|
<strong>A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA.</strong>
|
|
Mammalian Genome 22: 170-177, 2011.
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[PubMed: 21165622]
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[Full Text: https://doi.org/10.1007/s00335-010-9310-6]
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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">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 04/05/2024<br>Hilary J. Vernon - updated : 02/16/2024<br>Patricia A. Hartz - updated : 10/18/2017<br>Patricia A. Hartz - updated : 7/13/2012<br>Victor A. McKusick - updated : 6/17/2002
|
|
</span>
|
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
|
|
<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">
|
|
Paul J. Converse : 3/29/2002
|
|
</span>
|
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</div>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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