3351 lines
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Entry
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- *607696 - USH1 PROTEIN NETWORK COMPONENT SANS; USH1G
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*607696</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<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 role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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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<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/607696">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<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=ENSG00000182040;t=ENST00000614341" 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=124590" 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=607696" 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 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=ENSG00000182040;t=ENST00000614341" 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_001282489,NM_173477,XM_011524296" 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_173477" 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=607696" 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=09648&isoform_id=09648_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/USH1G" 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/21749569,34304383,71680394,71681854,71682774,71682778,81175048,119609618,158260631,194384594,542133068,767993490,1464452229,2462552964" 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/Q495M9" 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=124590" 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=ENSG00000182040;t=ENST00000614341" 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=USH1G" 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=USH1G" 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+124590" 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/USH1G" 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:124590" 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/124590" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr17&hgg_gene=ENST00000614341.5&hgg_start=74916083&hgg_end=74923255&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 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:16356" 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:16356" 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=607696[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=607696[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/ENSG00000182040" 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=USH1G" 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=USH1G" 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=USH1G" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/USH1G" title="Retinal and hearing impairment genetic mutation database USH1G" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Retinal and hearing impair…</a></div><div style="margin-left: 0.5em;"><a href="http://www.umd.be/USH1G/" title="The UMD USH1G mutations database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">The UMD USH1G mutations da…</a></div><div style="margin-left: 0.5em;"><a href="https://research.cchmc.org/LOVD2/home.php?select_db=USH1C" title="CCHMC Molecular Genetics Laboratory Mutation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">CCHMC Molecular Genetics L…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=USH1G&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/PA38126" 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:16356" 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/FBgn0033785.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:2450757" 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/USH1G#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:2450757" 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/124590/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=124590" 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-110411-55" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=USH1G&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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607696
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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USH1 PROTEIN NETWORK COMPONENT SANS; USH1G
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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USH1G GENE<br />
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SCAFFOLD PROTEIN CONTAINING ANKYRIN REPEATS AND SAM DOMAIN; SANS
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=USH1G" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">USH1G</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/17/925?start=-3&limit=10&highlight=925">17q25.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:74916083-74923255&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">17:74,916,083-74,923,255</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</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="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/17/925?start=-3&limit=10&highlight=925">
|
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17q25.1
|
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Usher syndrome, type 1G
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/606943"> 606943 </a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/607696" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/607696" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<p>SANS plays a role in regulating endocytosis-dependent ciliogenesis (<a href="#3" class="mim-tip-reference" title="Bauss, K., Knapp, B., Jores, P., Roepman, R., Kremer, H., v. Wijk, E., Marker, T., Wolfrum, U. <strong>Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.</strong> Hum. Molec. Genet. 23: 3923-3942, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24608321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24608321</a>] [<a href="https://doi.org/10.1093/hmg/ddu104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24608321">Bauss et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24608321" 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 positional cloning, <a href="#4" class="mim-tip-reference" title="Kikkawa, Y., Shitara, H., Wakana, S., Kohara, Y., Takada, T., Okamoto, M., Taya, C., Kamiya, K., Yoshikawa, Y., Tokano, H., Kitamura, K., Shimizu, K., Wakabayashi, Y., Shiroishi, T., Kominami, R., Yonekawa, H. <strong>Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.</strong> Hum. Molec. Genet. 12: 453-461, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588793</a>] [<a href="https://doi.org/10.1093/hmg/ddg042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588793">Kikkawa et al. (2003)</a> identified a novel gene within the 72-kb region on mouse chromosome 11 containing the Jackson shaker (js) locus. <a href="#4" class="mim-tip-reference" title="Kikkawa, Y., Shitara, H., Wakana, S., Kohara, Y., Takada, T., Okamoto, M., Taya, C., Kamiya, K., Yoshikawa, Y., Tokano, H., Kitamura, K., Shimizu, K., Wakabayashi, Y., Shiroishi, T., Kominami, R., Yonekawa, H. <strong>Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.</strong> Hum. Molec. Genet. 12: 453-461, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588793</a>] [<a href="https://doi.org/10.1093/hmg/ddg042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588793">Kikkawa et al. (2003)</a> named the gene Sans because it was found to encode a scaffold protein containing ankyrin repeats and a SAM (sterile alpha motif) domain. <a href="#4" class="mim-tip-reference" title="Kikkawa, Y., Shitara, H., Wakana, S., Kohara, Y., Takada, T., Okamoto, M., Taya, C., Kamiya, K., Yoshikawa, Y., Tokano, H., Kitamura, K., Shimizu, K., Wakabayashi, Y., Shiroishi, T., Kominami, R., Yonekawa, H. <strong>Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.</strong> Hum. Molec. Genet. 12: 453-461, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588793</a>] [<a href="https://doi.org/10.1093/hmg/ddg042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588793">Kikkawa et al. (2003)</a> determined that the mouse protein is expressed in the cochlea (including inner and outer hair cells), cerebellum, eye, and testis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588793" 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="#8" class="mim-tip-reference" title="Weil, D., El-Amraoui, A., Masmoudi, S., Mustapha, M., Kikkawa, Y., Laine, S., Delmaghani, S., Adato, A., Nadifi, S., Ben Zina, Z., Hamel, C., Gal, A., Ayadi, H., Yonekawa, H., Petit, C. <strong>Usher syndrome type IG (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.</strong> Hum. Molec. Genet. 12: 463-471, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588794</a>] [<a href="https://doi.org/10.1093/hmg/ddg051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588794">Weil et al. (2003)</a> cloned the human homolog of the mouse Sans gene in silico by database mining. The deduced 460-amino acid protein contains 3 ankyrin-like domains near the N terminus, a central region, and a SAM domain and a PDZ-binding motif at the C terminus. The human protein shares 96% sequence identity with the mouse protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By immunohistochemical analysis of mouse retina, <a href="#3" class="mim-tip-reference" title="Bauss, K., Knapp, B., Jores, P., Roepman, R., Kremer, H., v. Wijk, E., Marker, T., Wolfrum, U. <strong>Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.</strong> Hum. Molec. Genet. 23: 3923-3942, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24608321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24608321</a>] [<a href="https://doi.org/10.1093/hmg/ddu104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24608321">Bauss et al. (2014)</a> detected Sans at the base of the connecting cilium in photoreceptor cells, where it localized to a periciliary membrane complex facing the ciliary pocket. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24608321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Weil, D., El-Amraoui, A., Masmoudi, S., Mustapha, M., Kikkawa, Y., Laine, S., Delmaghani, S., Adato, A., Nadifi, S., Ben Zina, Z., Hamel, C., Gal, A., Ayadi, H., Yonekawa, H., Petit, C. <strong>Usher syndrome type IG (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.</strong> Hum. Molec. Genet. 12: 463-471, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588794</a>] [<a href="https://doi.org/10.1093/hmg/ddg051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588794">Weil et al. (2003)</a> determined that the human SANS gene spans over 7.2 kb and contains 3 exons, 2 of which are coding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Kikkawa, Y., Shitara, H., Wakana, S., Kohara, Y., Takada, T., Okamoto, M., Taya, C., Kamiya, K., Yoshikawa, Y., Tokano, H., Kitamura, K., Shimizu, K., Wakabayashi, Y., Shiroishi, T., Kominami, R., Yonekawa, H. <strong>Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.</strong> Hum. Molec. Genet. 12: 453-461, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588793</a>] [<a href="https://doi.org/10.1093/hmg/ddg042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588793">Kikkawa et al. (2003)</a> identified the Sans gene within the critical region of the Jackson shaker mouse mutation on chromosome 10. This region shows syntenic homology with a region of human chromosome 17 to which the Usher syndrome type IG (USH1G; <a href="/entry/606943">606943</a>) locus had been mapped (17q24-q25). By sequence analysis, <a href="#8" class="mim-tip-reference" title="Weil, D., El-Amraoui, A., Masmoudi, S., Mustapha, M., Kikkawa, Y., Laine, S., Delmaghani, S., Adato, A., Nadifi, S., Ben Zina, Z., Hamel, C., Gal, A., Ayadi, H., Yonekawa, H., Petit, C. <strong>Usher syndrome type IG (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.</strong> Hum. Molec. Genet. 12: 463-471, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588794</a>] [<a href="https://doi.org/10.1093/hmg/ddg051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588794">Weil et al. (2003)</a> identified the SANS gene on chromosome 17 between markers D17S1807 and D17S1839. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12588794+12588793" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Weil, D., El-Amraoui, A., Masmoudi, S., Mustapha, M., Kikkawa, Y., Laine, S., Delmaghani, S., Adato, A., Nadifi, S., Ben Zina, Z., Hamel, C., Gal, A., Ayadi, H., Yonekawa, H., Petit, C. <strong>Usher syndrome type IG (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.</strong> Hum. Molec. Genet. 12: 463-471, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588794</a>] [<a href="https://doi.org/10.1093/hmg/ddg051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588794">Weil et al. (2003)</a> found by cotransfection experiments that SANS interacts with harmonin (USH1C; <a href="/entry/605242">605242</a>), which is mutant in Usher syndrome type IC (<a href="/entry/276904">276904</a>). The authors proposed that SANS is an integral part of the protein complex linking cadherin (CDH23; <a href="/entry/605516">605516</a>) stereocilia laterally to the stereocilia microfilaments. CDH23 is mutant in Usher syndrome type ID (USH1D; <a href="/entry/601067">601067</a>) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By using cotransfection and immunolocalization techniques, <a href="#1" class="mim-tip-reference" title="Adato, A., Michel, V., Kikkawa, Y., Reiners, J., Alagramam, K. N., Weil, D., Yonekawa, H., Wolfrum, U., El-Amraoui, A., Petit, C. <strong>Interactions in the network of Usher syndrome type 1 proteins.</strong> Hum. Molec. Genet. 14: 347-356, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15590703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15590703</a>] [<a href="https://doi.org/10.1093/hmg/ddi031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15590703">Adato et al. (2005)</a> documented the interaction between SANS and harmonin, and also determined that SANS binds to myosin VIIa (MYO7A; <a href="/entry/276903">276903</a>). The authors noted that SANS formed homomeric structures. SANS was localized to the apical region of cochlear and vestibular hair cell bodies underneath the cuticular plate. In contrast to the other 4 known USH1 proteins, no SANS labeling was detected within the stereocilia. <a href="#1" class="mim-tip-reference" title="Adato, A., Michel, V., Kikkawa, Y., Reiners, J., Alagramam, K. N., Weil, D., Yonekawa, H., Wolfrum, U., El-Amraoui, A., Petit, C. <strong>Interactions in the network of Usher syndrome type 1 proteins.</strong> Hum. Molec. Genet. 14: 347-356, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15590703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15590703</a>] [<a href="https://doi.org/10.1093/hmg/ddi031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15590703">Adato et al. (2005)</a> proposed that via its binding to myosin VIIa and/or harmonin, SANS controls the hair bundle cohesion and proper development by regulating the traffic of USH1 proteins en route to the stereocilia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15590703" 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>Using yeast 2-hybrid analysis, <a href="#6" class="mim-tip-reference" title="Maerker, T., van Wijk, E., Overlack, N., Kersten, F. F. J., McGee, J., Goldmann, T., Sehn, E., Roepman, R., Walsh, E. J., Kremer, H., Wolfrum, U. <strong>A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.</strong> Hum. Molec. Genet. 17: 71-86, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17906286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17906286</a>] [<a href="https://doi.org/10.1093/hmg/ddm285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17906286">Maerker et al. (2008)</a> found that the C terminus of human SANS interacted with the N-terminal region of whirlin (WHRN; <a href="/entry/607928">607928</a>) in a bovine retina cDNA library. In mouse retina, both proteins colocalized at synapses in the outer plexiform layer and in the outer limiting membrane, the inner segment, and the ciliary region of photoreceptor cells. Within the ciliary region, high resolution analysis revealed that Sans and whirlin colocalized in the connecting cilium and basal body complex. <a href="#6" class="mim-tip-reference" title="Maerker, T., van Wijk, E., Overlack, N., Kersten, F. F. J., McGee, J., Goldmann, T., Sehn, E., Roepman, R., Walsh, E. J., Kremer, H., Wolfrum, U. <strong>A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.</strong> Hum. Molec. Genet. 17: 71-86, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17906286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17906286</a>] [<a href="https://doi.org/10.1093/hmg/ddm285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17906286">Maerker et al. (2008)</a> showed that Sans provided a link to the microtubule transport machinery, whereas whirlin appeared to anchor 2 retinal transmembrane proteins, Ush2a (<a href="/entry/608400">608400</a>) isoform b and Vlgr1b (GPR98; <a href="/entry/602851">602851</a>), to specific membrane domains. <a href="#6" class="mim-tip-reference" title="Maerker, T., van Wijk, E., Overlack, N., Kersten, F. F. J., McGee, J., Goldmann, T., Sehn, E., Roepman, R., Walsh, E. J., Kremer, H., Wolfrum, U. <strong>A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.</strong> Hum. Molec. Genet. 17: 71-86, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17906286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17906286</a>] [<a href="https://doi.org/10.1093/hmg/ddm285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17906286">Maerker et al. (2008)</a> concluded that this network of proteins may cooperate to regulate cargo transfer from inner segment transport carriers to the ciliary transport system of photoreceptors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17906286" 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="Bauss, K., Knapp, B., Jores, P., Roepman, R., Kremer, H., v. Wijk, E., Marker, T., Wolfrum, U. <strong>Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.</strong> Hum. Molec. Genet. 23: 3923-3942, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24608321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24608321</a>] [<a href="https://doi.org/10.1093/hmg/ddu104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24608321">Bauss et al. (2014)</a> found that endocytosis was required for ciliogenesis in mouse photoreceptors and ciliated kidney cells and that Sans negatively regulated this process. Yeast 2-hybrid analysis showed that Sans interacted with Magi2 (<a href="/entry/606382">606382</a>), a scaffold protein with a role in endocytosis and synapse formation. Mutation of bovine and mouse constructs revealed that a conserved SDLDL motif within the C-terminal SAM domain of Sans interacted with the PDZ domain-6 at the C terminus of Magi2. CK2 (see <a href="/entry/115440">115440</a>)-dependent serine phosphorylation within the SDLDL motif of Sans increased Sans-Magi2 interaction and inhibited Magi2- and clathrin-dependent endocytosis and ciliogenesis. Knockdown of Sans or Magi2 inhibited both endocytosis and ciliogenesis in mouse IMCD3 cells in a manner similar to pharmacologic inhibition of clathrin-dependent endocytosis. In addition, knockdown of Sans resulted in a small percentage of cells with abnormally elongated cilia. <a href="#3" class="mim-tip-reference" title="Bauss, K., Knapp, B., Jores, P., Roepman, R., Kremer, H., v. Wijk, E., Marker, T., Wolfrum, U. <strong>Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.</strong> Hum. Molec. Genet. 23: 3923-3942, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24608321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24608321</a>] [<a href="https://doi.org/10.1093/hmg/ddu104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24608321">Bauss et al. (2014)</a> observed that several SANS mutations identified in patients with Usher syndrome type IG truncate the protein and abrogate binding of SANS to MAGI2. The authors concluded that MAGI2-mediated endocytosis is required for ciliogenesis and that phosphorylated SANS negatively regulates MAGI2-mediated endocytosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24608321" 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="#9" class="mim-tip-reference" title="Wu, L., Pan, L., Wei, Z., Zhang, M. <strong>Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.</strong> Science 331: 757-760, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21311020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21311020</a>] [<a href="https://doi.org/10.1126/science.1198848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21311020">Wu et al. (2011)</a> reported the crystal structure of the MyTH4-FERM domains of MYO7A in complex with the central domain (CEN) of SANS at 2.8-angstrom resolution. The MyTH4 and FERM domains form an integral structural and functional supramodule binding to 2 highly conserved segments (CEN1 and 2) of SANS. <a href="#9" class="mim-tip-reference" title="Wu, L., Pan, L., Wei, Z., Zhang, M. <strong>Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.</strong> Science 331: 757-760, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21311020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21311020</a>] [<a href="https://doi.org/10.1126/science.1198848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21311020">Wu et al. (2011)</a> concluded that the MyTH4-FERM/CEN complex structure provides mechanistic explanations for known deafness-causing mutations in MYO7A MyTH4-FERM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21311020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a large Tunisian family segregating Usher syndrome type IG (USH1G; <a href="/entry/606943">606943</a>), <a href="#8" class="mim-tip-reference" title="Weil, D., El-Amraoui, A., Masmoudi, S., Mustapha, M., Kikkawa, Y., Laine, S., Delmaghani, S., Adato, A., Nadifi, S., Ben Zina, Z., Hamel, C., Gal, A., Ayadi, H., Yonekawa, H., Petit, C. <strong>Usher syndrome type IG (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.</strong> Hum. Molec. Genet. 12: 463-471, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588794</a>] [<a href="https://doi.org/10.1093/hmg/ddg051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588794">Weil et al. (2003)</a> identified a homozygous mutation in the SANS gene (<a href="#0004">607696.0004</a>). They identified different homozygous or compound heterozygous mutations in the SANS gene in affected members of German and Jordanian families (see <a href="#0001">607696.0001</a>-<a href="#0003">607696.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The Jackson shaker mouse carries a recessive mutation causing the phenotype of deafness, abnormal behavior (circling and/or head tossing) and degeneration of inner ear neuroepithelia (<a href="#5" class="mim-tip-reference" title="Kitamura, K., Kakoi, H., Yoshikawa, Y., Ochikubo, F. <strong>Ultrastructural findings in the inner ear of Jackson shaker mice.</strong> Acta Otolaryng. 112: 622-627, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1442008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1442008</a>] [<a href="https://doi.org/10.3109/00016489209137451" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1442008">Kitamura et al., 1992</a>). <a href="#4" class="mim-tip-reference" title="Kikkawa, Y., Shitara, H., Wakana, S., Kohara, Y., Takada, T., Okamoto, M., Taya, C., Kamiya, K., Yoshikawa, Y., Tokano, H., Kitamura, K., Shimizu, K., Wakabayashi, Y., Shiroishi, T., Kominami, R., Yonekawa, H. <strong>Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.</strong> Hum. Molec. Genet. 12: 453-461, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588793</a>] [<a href="https://doi.org/10.1093/hmg/ddg042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588793">Kikkawa et al. (2003)</a> noted that 2 alleles had been identified, the original js and jsseal. They determined that the Sans gene contains insertion mutations in both js and jsseal mutant alleles. Both mutations are predicted to inactivate the Sans protein by creating frameshift mutations, resulting in a truncated protein lacking the C-terminal SAM domain. Cochlear hair cells in the js mutants showed disorganized stereocilia bundles. Sans was shown by in situ hybridization to be highly expressed in both inner and outer hair cells of cochlea. <a href="#4" class="mim-tip-reference" title="Kikkawa, Y., Shitara, H., Wakana, S., Kohara, Y., Takada, T., Okamoto, M., Taya, C., Kamiya, K., Yoshikawa, Y., Tokano, H., Kitamura, K., Shimizu, K., Wakabayashi, Y., Shiroishi, T., Kominami, R., Yonekawa, H. <strong>Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.</strong> Hum. Molec. Genet. 12: 453-461, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588793</a>] [<a href="https://doi.org/10.1093/hmg/ddg042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588793">Kikkawa et al. (2003)</a> suggested that the existence of major motifs, ankyrin repeats and a SAM domain, supported an important role for Sans in the development and maintenance of the stereocilia bundles, possibly via protein-protein interactions. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1442008+12588793" 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=607696[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">rs104894651 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894651;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=rs104894651" 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=rs104894651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 German brothers with Usher syndrome type IG (USH1G; <a href="/entry/606943">606943</a>), <a href="#8" class="mim-tip-reference" title="Weil, D., El-Amraoui, A., Masmoudi, S., Mustapha, M., Kikkawa, Y., Laine, S., Delmaghani, S., Adato, A., Nadifi, S., Ben Zina, Z., Hamel, C., Gal, A., Ayadi, H., Yonekawa, H., Petit, C. <strong>Usher syndrome type IG (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.</strong> Hum. Molec. Genet. 12: 463-471, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588794</a>] [<a href="https://doi.org/10.1093/hmg/ddg051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588794">Weil et al. (2003)</a> identified compound heterozygosity for mutations in the SANS gene. One mutation was a 142C-T transition in exon 1, predicting a substitution of proline for a relatively conserved leucine at position 48 (L48P) in the first ankyrin domain. The other mutation was a dinucleotide deletion in exon 2, 186delCA (<a href="#0002">607696.0002</a>), predicted to produce a truncated 132-amino acid protein containing 70 missense C-terminal residues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs730880268 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730880268;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=rs730880268" 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=rs730880268" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 2-bp deletion in the SANS gene (186delCA) that was found in compound heterozygous state in 2 brothers with Usher syndrome type IG (USH1G; <a href="/entry/606943">606943</a>) by <a href="#8" class="mim-tip-reference" title="Weil, D., El-Amraoui, A., Masmoudi, S., Mustapha, M., Kikkawa, Y., Laine, S., Delmaghani, S., Adato, A., Nadifi, S., Ben Zina, Z., Hamel, C., Gal, A., Ayadi, H., Yonekawa, H., Petit, C. <strong>Usher syndrome type IG (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.</strong> Hum. Molec. Genet. 12: 463-471, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588794</a>] [<a href="https://doi.org/10.1093/hmg/ddg051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588794">Weil et al. (2003)</a>, see <a href="#0001">607696.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515345 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515345;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=rs397515345" 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=rs397515345" 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=RCV000003050 OR RCV000216021" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003050, RCV000216021" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003050...</a>
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<p>In affected members of a consanguineous Jordanian family segregating Usher syndrome type IG (USH1G; <a href="/entry/606943">606943</a>), <a href="#8" class="mim-tip-reference" title="Weil, D., El-Amraoui, A., Masmoudi, S., Mustapha, M., Kikkawa, Y., Laine, S., Delmaghani, S., Adato, A., Nadifi, S., Ben Zina, Z., Hamel, C., Gal, A., Ayadi, H., Yonekawa, H., Petit, C. <strong>Usher syndrome type IG (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.</strong> Hum. Molec. Genet. 12: 463-471, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588794</a>] [<a href="https://doi.org/10.1093/hmg/ddg051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588794">Weil et al. (2003)</a> identified homozygosity for a 20-bp deletion (nucleotides 829-848) in exon 2 of the SANS gene, predicting a truncated 326-amino acid protein containing 70 missense C-terminal residues and lacking the SAM domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588794" 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 USHER SYNDROME, TYPE IG</strong>
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USH1G, 1-BP INS, 393G
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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> rs587776546 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776546;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/rs587776546?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=rs587776546" 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=rs587776546" 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=RCV000003051 OR RCV000222936" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003051, RCV000222936" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003051...</a>
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<p>In affected members of a consanguineous Tunisian family segregating Usher syndrome type IG (USH1G; <a href="/entry/606943">606943</a>), <a href="#8" class="mim-tip-reference" title="Weil, D., El-Amraoui, A., Masmoudi, S., Mustapha, M., Kikkawa, Y., Laine, S., Delmaghani, S., Adato, A., Nadifi, S., Ben Zina, Z., Hamel, C., Gal, A., Ayadi, H., Yonekawa, H., Petit, C. <strong>Usher syndrome type IG (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.</strong> Hum. Molec. Genet. 12: 463-471, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588794</a>] [<a href="https://doi.org/10.1093/hmg/ddg051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588794">Weil et al. (2003)</a> identified homozygosity for a 393G insertion in exon 2 of the SANS gene, predicting a truncated 133-amino acid protein lacking the central region and the C-terminal SAM domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 USHER SYNDROME, TYPE IG</strong>
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USH1G, TRP38TER
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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> rs104894652 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894652;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/rs104894652?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=rs104894652" 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=rs104894652" 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=RCV000003052 OR RCV001851599" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003052, RCV001851599" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003052...</a>
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<p>In a mutation screen of patients with Usher syndrome type I from the U.S. and the U.K., <a href="#7" class="mim-tip-reference" title="Ouyang, X. M., Yan, D., Du, L. L., Hejtmancik, J. F., Jacobson, S. G., Nance, W. E., Li, A. R., Angeli, S., Kaiser, M., Newton, V., Brown, S. D. M., Balkany, T., Liu, X. Z. <strong>Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.</strong> Hum. Genet. 116: 292-299, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15660226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15660226</a>] [<a href="https://doi.org/10.1007/s00439-004-1227-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15660226">Ouyang et al. (2005)</a> found homozygosity for a 113G-A transition in the USH1G gene, resulting in a trp38-to-ter (W38X) substitution in the first ankyrin domain of the SANS protein (see USH1G; <a href="/entry/606943">606943</a>). The mutation would result in a truncated protein lacking approximately 90% of the predicted coding sequence. <a href="#7" class="mim-tip-reference" title="Ouyang, X. M., Yan, D., Du, L. L., Hejtmancik, J. F., Jacobson, S. G., Nance, W. E., Li, A. R., Angeli, S., Kaiser, M., Newton, V., Brown, S. D. M., Balkany, T., Liu, X. Z. <strong>Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.</strong> Hum. Genet. 116: 292-299, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15660226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15660226</a>] [<a href="https://doi.org/10.1007/s00439-004-1227-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15660226">Ouyang et al. (2005)</a> found the mutation in 2 (3.4%) of 59 probands from the U.S. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15660226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 USHER SYNDROME, TYPE IG, MILD</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024283" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024283" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024283</a>
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<p>In 4 affected members of a consanguineous Pakistani family with Usher syndrome type IG (USH1G; <a href="/entry/606943">606943</a>), <a href="#2" class="mim-tip-reference" title="Bashir, R., Fatima, A., Naz, S. <strong>A frameshift mutation in SANS results in atypical Usher syndrome. (Letter)</strong> Clin. Genet. 78: 601-603, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21044053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21044053</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01500.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21044053">Bashir et al. (2010)</a> identified a homozygous 15-bp deletion (163_164+13del15) involving nucleotides in the first exon and intron of the USH1G gene. The mutation was not found in 200 control chromosomes. Investigation of the effect of the mutation was hampered because RNA from patient blood did not show sufficient expression of SANS. In silico analysis predicted that retention of the first intron in the RNA resulting from the mutation would introduce a frameshift and premature termination, which could result in nonsense-mediated mRNA decay. However, if the mRNA is processed, the frameshift would result in a truncated nonfunctional protein of 58 amino acids. The patients had an atypical form of Usher syndrome, with moderate to severe hearing loss, normal vestibular function, and lack of eyesight problems. However, funduscopy showed mild symptoms of retinitis pigmentosa and pale optic discs in 3 of the older affected patients at ages 13, 15, and 22 years, respectively. The findings indicated that even a truncating mutation in the USH1G gene can result in a relatively mild phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21044053" 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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Adato, A., Michel, V., Kikkawa, Y., Reiners, J., Alagramam, K. N., Weil, D., Yonekawa, H., Wolfrum, U., El-Amraoui, A., Petit, C.
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<strong>Interactions in the network of Usher syndrome type 1 proteins.</strong>
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Hum. Molec. Genet. 14: 347-356, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15590703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15590703</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15590703" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddi031" target="_blank">Full Text</a>]
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Clin. Genet. 78: 601-603, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21044053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21044053</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21044053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2010.01500.x" target="_blank">Full Text</a>]
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Bauss, K., Knapp, B., Jores, P., Roepman, R., Kremer, H., v. Wijk, E., Marker, T., Wolfrum, U.
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<strong>Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.</strong>
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Hum. Molec. Genet. 23: 3923-3942, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24608321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24608321</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24608321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddu104" target="_blank">Full Text</a>]
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Kikkawa, Y., Shitara, H., Wakana, S., Kohara, Y., Takada, T., Okamoto, M., Taya, C., Kamiya, K., Yoshikawa, Y., Tokano, H., Kitamura, K., Shimizu, K., Wakabayashi, Y., Shiroishi, T., Kominami, R., Yonekawa, H.
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<strong>Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.</strong>
|
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Hum. Molec. Genet. 12: 453-461, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588793</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588793" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddg042" 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="5" class="mim-anchor"></a>
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<a id="Kitamura1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kitamura, K., Kakoi, H., Yoshikawa, Y., Ochikubo, F.
|
|
<strong>Ultrastructural findings in the inner ear of Jackson shaker mice.</strong>
|
|
Acta Otolaryng. 112: 622-627, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1442008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1442008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1442008" 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/10.3109/00016489209137451" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Maerker2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Maerker, T., van Wijk, E., Overlack, N., Kersten, F. F. J., McGee, J., Goldmann, T., Sehn, E., Roepman, R., Walsh, E. J., Kremer, H., Wolfrum, U.
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<strong>A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.</strong>
|
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Hum. Molec. Genet. 17: 71-86, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17906286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17906286</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17906286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddm285" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Ouyang2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ouyang, X. M., Yan, D., Du, L. L., Hejtmancik, J. F., Jacobson, S. G., Nance, W. E., Li, A. R., Angeli, S., Kaiser, M., Newton, V., Brown, S. D. M., Balkany, T., Liu, X. Z.
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<strong>Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.</strong>
|
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Hum. Genet. 116: 292-299, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15660226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15660226</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15660226" 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/s00439-004-1227-2" 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="Weil2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weil, D., El-Amraoui, A., Masmoudi, S., Mustapha, M., Kikkawa, Y., Laine, S., Delmaghani, S., Adato, A., Nadifi, S., Ben Zina, Z., Hamel, C., Gal, A., Ayadi, H., Yonekawa, H., Petit, C.
|
|
<strong>Usher syndrome type IG (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.</strong>
|
|
Hum. Molec. Genet. 12: 463-471, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588794</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddg051" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Wu2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wu, L., Pan, L., Wei, Z., Zhang, M.
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<strong>Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.</strong>
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Science 331: 757-760, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21311020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21311020</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21311020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1198848" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</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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Patricia A. Hartz - updated : 9/2/2014
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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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Cassandra L. Kniffin - updated : 5/17/2012<br>Ada Hamosh - updated : 5/6/2011<br>Patricia A. Hartz - updated : 9/21/2009<br>George E. Tiller - updated : 12/12/2007<br>Victor A. McKusick - updated : 3/31/2005
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</span>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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George E. Tiller : 4/18/2003
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</span>
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</div>
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</div>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<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 : 09/06/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/09/2021<br>carol : 02/11/2015<br>mcolton : 2/10/2015<br>mgross : 9/2/2014<br>mcolton : 9/2/2014<br>carol : 9/19/2013<br>carol : 5/17/2012<br>ckniffin : 5/17/2012<br>alopez : 5/10/2011<br>terry : 5/6/2011<br>mgross : 10/2/2009<br>mgross : 10/2/2009<br>terry : 9/21/2009<br>wwang : 12/28/2007<br>terry : 12/12/2007<br>wwang : 4/7/2005<br>wwang : 4/4/2005<br>terry : 3/31/2005<br>carol : 4/18/2003<br>carol : 4/18/2003
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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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> 607696
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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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USH1 PROTEIN NETWORK COMPONENT SANS; USH1G
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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USH1G GENE<br />
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SCAFFOLD PROTEIN CONTAINING ANKYRIN REPEATS AND SAM DOMAIN; SANS
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: USH1G</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: 17q25.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:74,916,083-74,923,255 </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="1">
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<span class="mim-font">
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17q25.1
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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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Usher syndrome, type 1G
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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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606943
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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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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>SANS plays a role in regulating endocytosis-dependent ciliogenesis (Bauss et al., 2014). </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 positional cloning, Kikkawa et al. (2003) identified a novel gene within the 72-kb region on mouse chromosome 11 containing the Jackson shaker (js) locus. Kikkawa et al. (2003) named the gene Sans because it was found to encode a scaffold protein containing ankyrin repeats and a SAM (sterile alpha motif) domain. Kikkawa et al. (2003) determined that the mouse protein is expressed in the cochlea (including inner and outer hair cells), cerebellum, eye, and testis. </p><p>Weil et al. (2003) cloned the human homolog of the mouse Sans gene in silico by database mining. The deduced 460-amino acid protein contains 3 ankyrin-like domains near the N terminus, a central region, and a SAM domain and a PDZ-binding motif at the C terminus. The human protein shares 96% sequence identity with the mouse protein. </p><p>By immunohistochemical analysis of mouse retina, Bauss et al. (2014) detected Sans at the base of the connecting cilium in photoreceptor cells, where it localized to a periciliary membrane complex facing the ciliary pocket. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Weil et al. (2003) determined that the human SANS gene spans over 7.2 kb and contains 3 exons, 2 of which are coding. </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">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Kikkawa et al. (2003) identified the Sans gene within the critical region of the Jackson shaker mouse mutation on chromosome 10. This region shows syntenic homology with a region of human chromosome 17 to which the Usher syndrome type IG (USH1G; 606943) locus had been mapped (17q24-q25). By sequence analysis, Weil et al. (2003) identified the SANS gene on chromosome 17 between markers D17S1807 and D17S1839. </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>Weil et al. (2003) found by cotransfection experiments that SANS interacts with harmonin (USH1C; 605242), which is mutant in Usher syndrome type IC (276904). The authors proposed that SANS is an integral part of the protein complex linking cadherin (CDH23; 605516) stereocilia laterally to the stereocilia microfilaments. CDH23 is mutant in Usher syndrome type ID (USH1D; 601067) </p><p>By using cotransfection and immunolocalization techniques, Adato et al. (2005) documented the interaction between SANS and harmonin, and also determined that SANS binds to myosin VIIa (MYO7A; 276903). The authors noted that SANS formed homomeric structures. SANS was localized to the apical region of cochlear and vestibular hair cell bodies underneath the cuticular plate. In contrast to the other 4 known USH1 proteins, no SANS labeling was detected within the stereocilia. Adato et al. (2005) proposed that via its binding to myosin VIIa and/or harmonin, SANS controls the hair bundle cohesion and proper development by regulating the traffic of USH1 proteins en route to the stereocilia. </p><p>Using yeast 2-hybrid analysis, Maerker et al. (2008) found that the C terminus of human SANS interacted with the N-terminal region of whirlin (WHRN; 607928) in a bovine retina cDNA library. In mouse retina, both proteins colocalized at synapses in the outer plexiform layer and in the outer limiting membrane, the inner segment, and the ciliary region of photoreceptor cells. Within the ciliary region, high resolution analysis revealed that Sans and whirlin colocalized in the connecting cilium and basal body complex. Maerker et al. (2008) showed that Sans provided a link to the microtubule transport machinery, whereas whirlin appeared to anchor 2 retinal transmembrane proteins, Ush2a (608400) isoform b and Vlgr1b (GPR98; 602851), to specific membrane domains. Maerker et al. (2008) concluded that this network of proteins may cooperate to regulate cargo transfer from inner segment transport carriers to the ciliary transport system of photoreceptors. </p><p>Bauss et al. (2014) found that endocytosis was required for ciliogenesis in mouse photoreceptors and ciliated kidney cells and that Sans negatively regulated this process. Yeast 2-hybrid analysis showed that Sans interacted with Magi2 (606382), a scaffold protein with a role in endocytosis and synapse formation. Mutation of bovine and mouse constructs revealed that a conserved SDLDL motif within the C-terminal SAM domain of Sans interacted with the PDZ domain-6 at the C terminus of Magi2. CK2 (see 115440)-dependent serine phosphorylation within the SDLDL motif of Sans increased Sans-Magi2 interaction and inhibited Magi2- and clathrin-dependent endocytosis and ciliogenesis. Knockdown of Sans or Magi2 inhibited both endocytosis and ciliogenesis in mouse IMCD3 cells in a manner similar to pharmacologic inhibition of clathrin-dependent endocytosis. In addition, knockdown of Sans resulted in a small percentage of cells with abnormally elongated cilia. Bauss et al. (2014) observed that several SANS mutations identified in patients with Usher syndrome type IG truncate the protein and abrogate binding of SANS to MAGI2. The authors concluded that MAGI2-mediated endocytosis is required for ciliogenesis and that phosphorylated SANS negatively regulates MAGI2-mediated endocytosis. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Crystal Structure</em></strong></p><p>
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Wu et al. (2011) reported the crystal structure of the MyTH4-FERM domains of MYO7A in complex with the central domain (CEN) of SANS at 2.8-angstrom resolution. The MyTH4 and FERM domains form an integral structural and functional supramodule binding to 2 highly conserved segments (CEN1 and 2) of SANS. Wu et al. (2011) concluded that the MyTH4-FERM/CEN complex structure provides mechanistic explanations for known deafness-causing mutations in MYO7A MyTH4-FERM. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of a large Tunisian family segregating Usher syndrome type IG (USH1G; 606943), Weil et al. (2003) identified a homozygous mutation in the SANS gene (607696.0004). They identified different homozygous or compound heterozygous mutations in the SANS gene in affected members of German and Jordanian families (see 607696.0001-607696.0003). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The Jackson shaker mouse carries a recessive mutation causing the phenotype of deafness, abnormal behavior (circling and/or head tossing) and degeneration of inner ear neuroepithelia (Kitamura et al., 1992). Kikkawa et al. (2003) noted that 2 alleles had been identified, the original js and jsseal. They determined that the Sans gene contains insertion mutations in both js and jsseal mutant alleles. Both mutations are predicted to inactivate the Sans protein by creating frameshift mutations, resulting in a truncated protein lacking the C-terminal SAM domain. Cochlear hair cells in the js mutants showed disorganized stereocilia bundles. Sans was shown by in situ hybridization to be highly expressed in both inner and outer hair cells of cochlea. Kikkawa et al. (2003) suggested that the existence of major motifs, ankyrin repeats and a SAM domain, supported an important role for Sans in the development and maintenance of the stereocilia bundles, possibly via protein-protein interactions. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 USHER SYNDROME, TYPE IG</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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USH1G, LEU48PRO
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<br />
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SNP: rs104894651,
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ClinVar: RCV000003048
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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 2 German brothers with Usher syndrome type IG (USH1G; 606943), Weil et al. (2003) identified compound heterozygosity for mutations in the SANS gene. One mutation was a 142C-T transition in exon 1, predicting a substitution of proline for a relatively conserved leucine at position 48 (L48P) in the first ankyrin domain. The other mutation was a dinucleotide deletion in exon 2, 186delCA (607696.0002), predicted to produce a truncated 132-amino acid protein containing 70 missense C-terminal residues. </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 USHER SYNDROME, TYPE IG</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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USH1G, 2-BP DEL, 186CA
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<br />
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SNP: rs730880268,
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ClinVar: RCV000003049
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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>For discussion of the 2-bp deletion in the SANS gene (186delCA) that was found in compound heterozygous state in 2 brothers with Usher syndrome type IG (USH1G; 606943) by Weil et al. (2003), see 607696.0001. </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 USHER SYNDROME, TYPE IG</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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USH1G, 20-BP DEL, NT829
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<br />
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SNP: rs397515345,
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ClinVar: RCV000003050, RCV000216021
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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 affected members of a consanguineous Jordanian family segregating Usher syndrome type IG (USH1G; 606943), Weil et al. (2003) identified homozygosity for a 20-bp deletion (nucleotides 829-848) in exon 2 of the SANS gene, predicting a truncated 326-amino acid protein containing 70 missense C-terminal residues and lacking the SAM domain. </p>
|
|
</span>
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</div>
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<div>
|
|
<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>.0004 USHER SYNDROME, TYPE IG</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
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|
|
USH1G, 1-BP INS, 393G
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|
|
<br />
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|
|
SNP: rs587776546,
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|
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|
|
gnomAD: rs587776546,
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|
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|
|
ClinVar: RCV000003051, RCV000222936
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Tunisian family segregating Usher syndrome type IG (USH1G; 606943), Weil et al. (2003) identified homozygosity for a 393G insertion in exon 2 of the SANS gene, predicting a truncated 133-amino acid protein lacking the central region and the C-terminal SAM domain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 USHER SYNDROME, TYPE IG</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
USH1G, TRP38TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894652,
|
|
|
|
|
|
gnomAD: rs104894652,
|
|
|
|
|
|
ClinVar: RCV000003052, RCV001851599
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a mutation screen of patients with Usher syndrome type I from the U.S. and the U.K., Ouyang et al. (2005) found homozygosity for a 113G-A transition in the USH1G gene, resulting in a trp38-to-ter (W38X) substitution in the first ankyrin domain of the SANS protein (see USH1G; 606943). The mutation would result in a truncated protein lacking approximately 90% of the predicted coding sequence. Ouyang et al. (2005) found the mutation in 2 (3.4%) of 59 probands from the U.S. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 USHER SYNDROME, TYPE IG, MILD</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
USH1G, 15-BP DEL, NT163
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000024283
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 affected members of a consanguineous Pakistani family with Usher syndrome type IG (USH1G; 606943), Bashir et al. (2010) identified a homozygous 15-bp deletion (163_164+13del15) involving nucleotides in the first exon and intron of the USH1G gene. The mutation was not found in 200 control chromosomes. Investigation of the effect of the mutation was hampered because RNA from patient blood did not show sufficient expression of SANS. In silico analysis predicted that retention of the first intron in the RNA resulting from the mutation would introduce a frameshift and premature termination, which could result in nonsense-mediated mRNA decay. However, if the mRNA is processed, the frameshift would result in a truncated nonfunctional protein of 58 amino acids. The patients had an atypical form of Usher syndrome, with moderate to severe hearing loss, normal vestibular function, and lack of eyesight problems. However, funduscopy showed mild symptoms of retinitis pigmentosa and pale optic discs in 3 of the older affected patients at ages 13, 15, and 22 years, respectively. The findings indicated that even a truncating mutation in the USH1G gene can result in a relatively mild phenotype. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Adato, A., Michel, V., Kikkawa, Y., Reiners, J., Alagramam, K. N., Weil, D., Yonekawa, H., Wolfrum, U., El-Amraoui, A., Petit, C.
|
|
<strong>Interactions in the network of Usher syndrome type 1 proteins.</strong>
|
|
Hum. Molec. Genet. 14: 347-356, 2005.
|
|
|
|
|
|
[PubMed: 15590703]
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|
|
[Full Text: https://doi.org/10.1093/hmg/ddi031]
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</p>
|
|
</li>
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Bashir, R., Fatima, A., Naz, S.
|
|
<strong>A frameshift mutation in SANS results in atypical Usher syndrome. (Letter)</strong>
|
|
Clin. Genet. 78: 601-603, 2010.
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|
|
[PubMed: 21044053]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2010.01500.x]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Bauss, K., Knapp, B., Jores, P., Roepman, R., Kremer, H., v. Wijk, E., Marker, T., Wolfrum, U.
|
|
<strong>Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.</strong>
|
|
Hum. Molec. Genet. 23: 3923-3942, 2014.
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|
[PubMed: 24608321]
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[Full Text: https://doi.org/10.1093/hmg/ddu104]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Kikkawa, Y., Shitara, H., Wakana, S., Kohara, Y., Takada, T., Okamoto, M., Taya, C., Kamiya, K., Yoshikawa, Y., Tokano, H., Kitamura, K., Shimizu, K., Wakabayashi, Y., Shiroishi, T., Kominami, R., Yonekawa, H.
|
|
<strong>Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.</strong>
|
|
Hum. Molec. Genet. 12: 453-461, 2003.
|
|
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|
|
[PubMed: 12588793]
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[Full Text: https://doi.org/10.1093/hmg/ddg042]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Kitamura, K., Kakoi, H., Yoshikawa, Y., Ochikubo, F.
|
|
<strong>Ultrastructural findings in the inner ear of Jackson shaker mice.</strong>
|
|
Acta Otolaryng. 112: 622-627, 1992.
|
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|
|
[PubMed: 1442008]
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[Full Text: https://doi.org/10.3109/00016489209137451]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Maerker, T., van Wijk, E., Overlack, N., Kersten, F. F. J., McGee, J., Goldmann, T., Sehn, E., Roepman, R., Walsh, E. J., Kremer, H., Wolfrum, U.
|
|
<strong>A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.</strong>
|
|
Hum. Molec. Genet. 17: 71-86, 2008.
|
|
|
|
|
|
[PubMed: 17906286]
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|
|
[Full Text: https://doi.org/10.1093/hmg/ddm285]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Ouyang, X. M., Yan, D., Du, L. L., Hejtmancik, J. F., Jacobson, S. G., Nance, W. E., Li, A. R., Angeli, S., Kaiser, M., Newton, V., Brown, S. D. M., Balkany, T., Liu, X. Z.
|
|
<strong>Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.</strong>
|
|
Hum. Genet. 116: 292-299, 2005.
|
|
|
|
|
|
[PubMed: 15660226]
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|
|
[Full Text: https://doi.org/10.1007/s00439-004-1227-2]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Weil, D., El-Amraoui, A., Masmoudi, S., Mustapha, M., Kikkawa, Y., Laine, S., Delmaghani, S., Adato, A., Nadifi, S., Ben Zina, Z., Hamel, C., Gal, A., Ayadi, H., Yonekawa, H., Petit, C.
|
|
<strong>Usher syndrome type IG (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.</strong>
|
|
Hum. Molec. Genet. 12: 463-471, 2003.
|
|
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|
|
[PubMed: 12588794]
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|
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[Full Text: https://doi.org/10.1093/hmg/ddg051]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Wu, L., Pan, L., Wei, Z., Zhang, M.
|
|
<strong>Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.</strong>
|
|
Science 331: 757-760, 2011.
|
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|
|
[PubMed: 21311020]
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[Full Text: https://doi.org/10.1126/science.1198848]
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Patricia A. Hartz - updated : 9/2/2014<br>Cassandra L. Kniffin - updated : 5/17/2012<br>Ada Hamosh - updated : 5/6/2011<br>Patricia A. Hartz - updated : 9/21/2009<br>George E. Tiller - updated : 12/12/2007<br>Victor A. McKusick - updated : 3/31/2005
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George E. Tiller : 4/18/2003
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carol : 09/06/2023<br>carol : 03/09/2021<br>carol : 02/11/2015<br>mcolton : 2/10/2015<br>mgross : 9/2/2014<br>mcolton : 9/2/2014<br>carol : 9/19/2013<br>carol : 5/17/2012<br>ckniffin : 5/17/2012<br>alopez : 5/10/2011<br>terry : 5/6/2011<br>mgross : 10/2/2009<br>mgross : 10/2/2009<br>terry : 9/21/2009<br>wwang : 12/28/2007<br>terry : 12/12/2007<br>wwang : 4/7/2005<br>wwang : 4/4/2005<br>terry : 3/31/2005<br>carol : 4/18/2003<br>carol : 4/18/2003
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