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<title>
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Entry
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- *180040 - RD3 REGULATOR OF GUCY2D; RD3
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- OMIM
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*180040</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/180040">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
|
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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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=ENSG00000198570;t=ENST00000680073" 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=343035" 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=180040" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000198570;t=ENST00000680073" 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_001164688,NM_183059" 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_001164688" 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=180040" 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=12726&isoform_id=12726_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/RD3" 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/33590474,34098970,41351156,71152353,119613820,158255856,257743447" 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/Q7Z3Z2" 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=343035" 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=ENSG00000198570;t=ENST00000680073" 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=RD3" 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=RD3" 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+343035" 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/RD3" 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:343035" 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/343035" 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=chr1&hgg_gene=ENST00000680073.1&hgg_start=211476522&hgg_end=211492162&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
|
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</div>
|
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:19689" 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=180040[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=180040[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/ENSG00000198570" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=RD3" 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=RD3" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=RD3&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/PA162400998" 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:19689" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1921273" 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/RD3#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:1921273" 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/343035/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA001260/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=343035" 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-040724-103" 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>
|
|
</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
|
</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=RD3&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>
|
|
180040
|
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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>
|
|
<h3>
|
|
<span class="mim-font">
|
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|
|
RD3 REGULATOR OF GUCY2D; RD3
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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>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
RETINAL DEGENERATION 3<br />
|
|
RETINAL DEGENERATION 3, MOUSE, HOMOLOG OF<br />
|
|
CHROMOSOME 1 OPEN READING FRAME 36; C1ORF36
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=RD3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RD3</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
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|
|
<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/1/1678?start=-3&limit=10&highlight=1678">1q32.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:211476522-211492162&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'})">1:211,476,522-211,492,162</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/1678?start=-3&limit=10&highlight=1678">
|
|
1q32.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Leber congenital amaurosis 12
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/610612"> 610612 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
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<p>By searching databases for sequences expressed in retina and/or pineal gland, followed by PCR of an adult retina cDNA library, <a href="#5" class="mim-tip-reference" title="Lavorgna, G., Lestingi, M., Ziviello, C., Testa, F., Simonelli, F., Manitto, M. P., Brancato, R., Ferrari, M., Rinaldi, E., Ciccodicola, A., Banfi, S. <strong>Identification and characterization of Clorf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.</strong> Biochem. Biophys. Res. Commun. 308: 414-421, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12914764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12914764</a>] [<a href="https://doi.org/10.1016/s0006-291x(03)01410-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12914764">Lavorgna et al. (2003)</a> cloned C1ORF36. The deduced 195-amino acid protein has a calculated molecular mass of 22.7 kD. It contains an N-terminal mitochondrial targeting signal, a possible coiled-coil domain, and 2 potential phosphorylation sites. <a href="#5" class="mim-tip-reference" title="Lavorgna, G., Lestingi, M., Ziviello, C., Testa, F., Simonelli, F., Manitto, M. P., Brancato, R., Ferrari, M., Rinaldi, E., Ciccodicola, A., Banfi, S. <strong>Identification and characterization of Clorf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.</strong> Biochem. Biophys. Res. Commun. 308: 414-421, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12914764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12914764</a>] [<a href="https://doi.org/10.1016/s0006-291x(03)01410-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12914764">Lavorgna et al. (2003)</a> identified ESTs representing an alternatively spliced transcript that lacks exon 2 and encodes a protein lacking the first 128 amino acids. Other ESTs suggested the presence of alternative 5-prime exons. PCR analysis of 6 human tissues detected C1ORF36 only in retina. In situ hybridization of adult mouse retina detected expression in the outer nuclear layer, the inner nuclear layer, and the ganglion cell layer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12914764" 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="#5" class="mim-tip-reference" title="Lavorgna, G., Lestingi, M., Ziviello, C., Testa, F., Simonelli, F., Manitto, M. P., Brancato, R., Ferrari, M., Rinaldi, E., Ciccodicola, A., Banfi, S. <strong>Identification and characterization of Clorf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.</strong> Biochem. Biophys. Res. Commun. 308: 414-421, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12914764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12914764</a>] [<a href="https://doi.org/10.1016/s0006-291x(03)01410-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12914764">Lavorgna et al. (2003)</a> determined that the C1ORF36 gene contains at least 3 exons and spans over 15.45 kb. The mouse C1orf36 gene also contains at least 3 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12914764" 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 linkage analysis, <a href="#2" class="mim-tip-reference" title="Chang, B., Heckenlively, J. R., Hawes, N. L., Roderick, T. H. <strong>New mouse primary retinal degeneration (rd-3).</strong> Genomics 16: 45-49, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486383</a>] [<a href="https://doi.org/10.1006/geno.1993.1138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8486383">Chang et al. (1993)</a> mapped the mouse rd3 gene to chromosome 1, about 10 cM distal to Akp1 (alkaline phosphatase-1). <a href="#2" class="mim-tip-reference" title="Chang, B., Heckenlively, J. R., Hawes, N. L., Roderick, T. H. <strong>New mouse primary retinal degeneration (rd-3).</strong> Genomics 16: 45-49, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486383</a>] [<a href="https://doi.org/10.1006/geno.1993.1138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8486383">Chang et al. (1993)</a> suggested that the homologous human locus may be on chromosome 1q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8486383" 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 genomic sequence analysis, <a href="#5" class="mim-tip-reference" title="Lavorgna, G., Lestingi, M., Ziviello, C., Testa, F., Simonelli, F., Manitto, M. P., Brancato, R., Ferrari, M., Rinaldi, E., Ciccodicola, A., Banfi, S. <strong>Identification and characterization of Clorf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.</strong> Biochem. Biophys. Res. Commun. 308: 414-421, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12914764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12914764</a>] [<a href="https://doi.org/10.1016/s0006-291x(03)01410-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12914764">Lavorgna et al. (2003)</a> mapped the C1ORF36 gene to chromosome 1q32.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12914764" 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="#3" class="mim-tip-reference" title="Friedman, J. S., Chang, B., Kannabiran, C., Chakarova, C., Singh, H. P., Jalali, S., Hawes, N. L., Branham, K., Othman, M., Filippova, E., Thompson, D. A., Webster, A. R., Andreasson, S., Jacobson, S. G., Bhattacharya, S. S., Heckenlively, J. R., Swaroop, A. <strong>Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.</strong> Am. J. Hum. Genet. 79: 1059-1070, 2006. Note: Erratum: Am. J. Hum. Genet. 80: 388 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17186464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17186464</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17186464[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17186464">Friedman et al. (2006)</a> found that mouse Rd3 is preferentially expressed in the retina and exhibits increasing expression through early postnatal development. In transiently transfected COS-1 cells, the Rd3 fusion protein showed subnuclear localization adjacent to promyelocytic leukemia gene product (PML; <a href="/entry/102578">102578</a>) bodies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17186464" 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 coimmunoprecipitation of mouse retinal extracts, <a href="#1" class="mim-tip-reference" title="Azadi, S., Molday, L. L., Molday, R. S. <strong>RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells.</strong> Proc. Nat. Acad. Sci. 107: 21158-21163, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21078983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21078983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21078983[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1010460107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21078983">Azadi et al. (2010)</a> found that Rd3 bound the photoreceptor guanylate cyclases Gc1 (GUCY2D; <a href="/entry/600179">600179</a>) and Gc2 (GUCY2F; <a href="/entry/300041">300041</a>). They confirmed interaction of Rd3 with Gc1 in transfected HEK293 cells. A short C-terminal segment of Gc1 was required for Rd3 binding. When expressed alone in COS-7 cells, Rd3 colocalized with the endosomal recycling marker Rab11 (see RAB11A; <a href="/entry/605570">605570</a>) in a pattern characteristic of intracellular vesicles, whereas Gc1 localized in a perinuclear distribution characteristic of endoplasmic reticulum (ER). When coexpressed, Gc1 was exported from the ER to endosomal vesicles containing Rd3 and Rab11. Retinal extracts from Rd3 mice (see ANIMAL MODEL) lacked Gc1 protein expression and showed reduced Gc2 protein expression compared with wildtype. The GC-activating proteins Gcap1 (GUCA1A; <a href="/entry/600364">600364</a>) and Gcap2 (GUCA1B; <a href="/entry/602275">602275</a>) also showed reduced expression in Rd3 mice, as well as mislocalization to the inner segment of photoreceptor cells. <a href="#1" class="mim-tip-reference" title="Azadi, S., Molday, L. L., Molday, R. S. <strong>RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells.</strong> Proc. Nat. Acad. Sci. 107: 21158-21163, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21078983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21078983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21078983[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1010460107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21078983">Azadi et al. (2010)</a> proposed that RD3 may be an accessory protein required for vesicle trafficking of GCs from inner to outer segments of rod and cone cells and that it may modulate GC enzymatic activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21078983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>To explore potential association of the human RD3 gene with retinopathies, <a href="#3" class="mim-tip-reference" title="Friedman, J. S., Chang, B., Kannabiran, C., Chakarova, C., Singh, H. P., Jalali, S., Hawes, N. L., Branham, K., Othman, M., Filippova, E., Thompson, D. A., Webster, A. R., Andreasson, S., Jacobson, S. G., Bhattacharya, S. S., Heckenlively, J. R., Swaroop, A. <strong>Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.</strong> Am. J. Hum. Genet. 79: 1059-1070, 2006. Note: Erratum: Am. J. Hum. Genet. 80: 388 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17186464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17186464</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17186464[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17186464">Friedman et al. (2006)</a> performed a mutation screen of 881 probands from North America, India, and Europe. In addition to several alterations of uncertain significance, they identified a homozygous alteration in the invariant G nucleotide of the RD3 exon 2 donor splice site in 2 sibs with Leber congenital amaurosis (LCA12; <a href="/entry/610612">610612</a>). This mutation was predicted to result in premature termination of the RD3 protein. <a href="#3" class="mim-tip-reference" title="Friedman, J. S., Chang, B., Kannabiran, C., Chakarova, C., Singh, H. P., Jalali, S., Hawes, N. L., Branham, K., Othman, M., Filippova, E., Thompson, D. A., Webster, A. R., Andreasson, S., Jacobson, S. G., Bhattacharya, S. S., Heckenlively, J. R., Swaroop, A. <strong>Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.</strong> Am. J. Hum. Genet. 79: 1059-1070, 2006. Note: Erratum: Am. J. Hum. Genet. 80: 388 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17186464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17186464</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17186464[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17186464">Friedman et al. (2006)</a> suggested that the retinopathy-associated RD3 protein is part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17186464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large consanguineous Kurdish family with LCA mapping to chromosome 1q32, <a href="#8" class="mim-tip-reference" title="Preising, M. N., Hausotter-Will, N., Solbach, M. C., Friedburg, C., Ruschendorf, F., Lorenz, B. <strong>Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.</strong> Invest. Ophthal. Vis. Sci. 53: 3463-3472, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22531706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22531706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22531706[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1167/iovs.12-9519" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22531706">Preising et al. (2012)</a> directly sequenced the RD3 gene and identified homozygosity for a nonsense mutation (Y60X; <a href="#0002">180040.0002</a>) that segregated with disease in the family. Analysis of 85 unrelated patients with severe early-onset retinal dystrophy did not reveal any more causative RD3 mutations. <a href="#8" class="mim-tip-reference" title="Preising, M. N., Hausotter-Will, N., Solbach, M. C., Friedburg, C., Ruschendorf, F., Lorenz, B. <strong>Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.</strong> Invest. Ophthal. Vis. Sci. 53: 3463-3472, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22531706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22531706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22531706[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1167/iovs.12-9519" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22531706">Preising et al. (2012)</a> concluded that sequence changes in the RD3 gene are a very rare cause of LCA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22531706" 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 DNA samples from 852 unrelated patients ascertained worldwide with LCA or early-onset severe retinal degeneration, <a href="#7" class="mim-tip-reference" title="Perrault, I., Estrada-Cuzcano, A., Lopez, I., Kohl, S., Li, S., Testa, F., Zekveld-Vroon, R., Wang, X., Pomares, E., Andorf, J., Aboussair, N., Banfi, S., and 23 others. <strong>Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.</strong> PLoS One 8: e51622, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23308101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23308101</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23308101[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0051622" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23308101">Perrault et al. (2013)</a> screened the RD3 gene and identified homozygosity for 3 truncating mutations in 7 probands from consanguineous LCA families (<a href="#0003">180040.0003</a>-<a href="#0005">180040.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23308101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Exclusion Studies</em></strong></p><p>
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By mutation analysis of the coding region of the C1ORF36 gene in 300 unrelated patients with retinitis pigmentosa (RP; see <a href="/entry/268000">268000</a>) patients and unrelated unaffected individuals, <a href="#5" class="mim-tip-reference" title="Lavorgna, G., Lestingi, M., Ziviello, C., Testa, F., Simonelli, F., Manitto, M. P., Brancato, R., Ferrari, M., Rinaldi, E., Ciccodicola, A., Banfi, S. <strong>Identification and characterization of Clorf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.</strong> Biochem. Biophys. Res. Commun. 308: 414-421, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12914764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12914764</a>] [<a href="https://doi.org/10.1016/s0006-291x(03)01410-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12914764">Lavorgna et al. (2003)</a> found no mutations that segregated with the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12914764" 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="#2" class="mim-tip-reference" title="Chang, B., Heckenlively, J. R., Hawes, N. L., Roderick, T. H. <strong>New mouse primary retinal degeneration (rd-3).</strong> Genomics 16: 45-49, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486383</a>] [<a href="https://doi.org/10.1006/geno.1993.1138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8486383">Chang et al. (1993)</a> postulated the existence of a form of retinal degeneration in humans, possibly a form of retinitis pigmentosa, homologous to a primary retinal degeneration, termed rd3, in the mouse. The retinal differentiation in the mouse proceeded postnatally through 2 weeks, and photoreceptor degeneration started by 3 weeks. The rod photoreceptor loss was essentially complete by 5 weeks, whereas remnant cone cells were seen through 7 weeks. This was the only murine homozygous retinal degeneration reported to that time in which photoreceptors were initially normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8486383" 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 the positional candidate approach, <a href="#3" class="mim-tip-reference" title="Friedman, J. S., Chang, B., Kannabiran, C., Chakarova, C., Singh, H. P., Jalali, S., Hawes, N. L., Branham, K., Othman, M., Filippova, E., Thompson, D. A., Webster, A. R., Andreasson, S., Jacobson, S. G., Bhattacharya, S. S., Heckenlively, J. R., Swaroop, A. <strong>Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.</strong> Am. J. Hum. Genet. 79: 1059-1070, 2006. Note: Erratum: Am. J. Hum. Genet. 80: 388 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17186464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17186464</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17186464[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17186464">Friedman et al. (2006)</a> identified a C-to-T transition in the mouse Rd3 gene. The Rd3 mutation resulted in a predicted stop codon after residue 106. This change was observed in 4 Rd3 lines derived from the original collected mice but not in 9 wildtype mouse strains examined. The truncated mutant Rd3 protein was detectable in COS-1 cells but appeared to be degraded rapidly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17186464" 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>Canine rod-cone dysplasia type-2 (rcd2) is inherited as a simple autosomal recessive trait specifically in rough and smooth collies. Night blindness is the earliest clinical sign detected in 6-week-old rcd2 dogs, followed by retinal dysfunction and failure to develop normal rod and cone outer segments. Rcd2 dogs become functionally blind by 6 to 8 months of age. <a href="#4" class="mim-tip-reference" title="Kukekova, A. V., Goldstein, O., Johnson, J. L., Richardson, M. A., Pearce-Kelling, S. E., Swaroop, A., Friedman, J. S., Aguirre, G. D., Acland, G. M. <strong>Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3.</strong> Mammalian Genome 20: 109-123, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19130129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19130129</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19130129[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s00335-008-9163-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19130129">Kukekova et al. (2009)</a> identified an insertion in the canine Rd3 gene that cosegregated with rcd2 in affected dogs. Unlike mouse and human RD3, which each have a single transcript, canine Rd3 produces 3 splice variants. The insertion only affected 1 of these variants and was predicted to alter the last 61 codons of the normal ORF and further extended the ORF. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19130129" 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 immunofluorescence microscopy, <a href="#6" class="mim-tip-reference" title="Molday, L. L., Djajadi, H., Yan, P., Szczygiel, L., Boye, S. L., Chiodo, V. A., Gregory-Evans, K., Sarunic, M. V., Hauswirth, W. W., Molday, R. S. <strong>RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12.</strong> Hum. Molec. Genet. 22: 3894-3905, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23740938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23740938</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23740938[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddt244" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23740938">Molday et al. (2013)</a> observed that strong RD3 transgene expression in a strain of Rd3-deficient mice resulted in the translocation of guanylate cyclase from the endoplasmic reticulum (ER) to rod and cone outer segments. Guanylate cyclase expression and localization coincided with the survival of rod and cone photoreceptors for at least 7 months. <a href="#6" class="mim-tip-reference" title="Molday, L. L., Djajadi, H., Yan, P., Szczygiel, L., Boye, S. L., Chiodo, V. A., Gregory-Evans, K., Sarunic, M. V., Hauswirth, W. W., Molday, R. S. <strong>RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12.</strong> Hum. Molec. Genet. 22: 3894-3905, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23740938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23740938</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23740938[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddt244" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23740938">Molday et al. (2013)</a> concluded that RD3 plays an essential role in the exit of guanylate cyclase from the ER and in its trafficking to photoreceptor outer segments. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23740938" 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=180040[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>In 2 sibs with Leber congenital amaurosis-12 (LCA12; <a href="/entry/610612">610612</a>) from an Indian family, <a href="#3" class="mim-tip-reference" title="Friedman, J. S., Chang, B., Kannabiran, C., Chakarova, C., Singh, H. P., Jalali, S., Hawes, N. L., Branham, K., Othman, M., Filippova, E., Thompson, D. A., Webster, A. R., Andreasson, S., Jacobson, S. G., Bhattacharya, S. S., Heckenlively, J. R., Swaroop, A. <strong>Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.</strong> Am. J. Hum. Genet. 79: 1059-1070, 2006. Note: Erratum: Am. J. Hum. Genet. 80: 388 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17186464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17186464</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17186464[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17186464">Friedman et al. (2006)</a> identified a homozygous donor splice site mutation, 296+1G-A, in the RD3 gene. The change was present in heterozygous state in unaffected members of the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17186464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs762631020 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs762631020;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/rs762631020?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=rs762631020" 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=rs762631020" 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=RCV000170305 OR RCV001726018" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000170305, RCV001726018" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000170305...</a>
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<p>In 7 affected individuals from 4 sibships of a large consanguineous Kurdish family with Leber congenital amaurosis mapping to chromosome 1q32 (LCA12; <a href="/entry/610612">610612</a>), <a href="#8" class="mim-tip-reference" title="Preising, M. N., Hausotter-Will, N., Solbach, M. C., Friedburg, C., Ruschendorf, F., Lorenz, B. <strong>Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.</strong> Invest. Ophthal. Vis. Sci. 53: 3463-3472, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22531706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22531706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22531706[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1167/iovs.12-9519" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22531706">Preising et al. (2012)</a> identified homozygosity for a c.180C-A transversion (c.180C-A, GRCh37) in the RD3 gene, resulting in a tyr60-to-ter (Y60X) substitution predicted to truncate approximately two-thirds of the gene product. Clinical data were available for 6 of the affected individuals. The unaffected parents were all heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22531706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs786205148 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205148;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/rs786205148?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=rs786205148" 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=rs786205148" 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=RCV000170306 OR RCV001814086 OR RCV003895172 OR RCV004815266" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000170306, RCV001814086, RCV003895172, RCV004815266" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000170306...</a>
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<p>In 9 affected individuals from 5 unrelated consanguineous families (2 Moroccan, 2 Turkish, and 1 Lebanese) with Leber congenital amaurosis (LCA12; <a href="/entry/610612">610612</a>), <a href="#7" class="mim-tip-reference" title="Perrault, I., Estrada-Cuzcano, A., Lopez, I., Kohl, S., Li, S., Testa, F., Zekveld-Vroon, R., Wang, X., Pomares, E., Andorf, J., Aboussair, N., Banfi, S., and 23 others. <strong>Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.</strong> PLoS One 8: e51622, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23308101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23308101</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23308101[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0051622" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23308101">Perrault et al. (2013)</a> identified homozygosity for a c.112C-T transition (c.112C-T, GRCh37) in exon 2 of the RD3 gene, predicted to result in an arg38-to-ter (R38X) substitution and/or to create a cryptic donor splice site resulting in a 132-amino acid protein lacking residues 38 to 99, including a putative coiled-coil domain. The mutation, which segregated with disease in each family, was not found in 151 controls or in published databases. Haplotype analysis performed in 4 of the families revealed a 1-Mb shared region present in the 2 Moroccan families and 1 of the Turkish families consistent with a founder mutation that had originated 100 to 150 generations previously. The Lebanese family carried a different haplotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23308101" 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">rs786205149 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205149;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=rs786205149" 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=rs786205149" 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=RCV000170307" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000170307" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000170307</a>
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<p>In a 21-year-old Moroccan woman with Leber congenital amaurosis-12 (LCA12; <a href="/entry/610612">610612</a>), <a href="#7" class="mim-tip-reference" title="Perrault, I., Estrada-Cuzcano, A., Lopez, I., Kohl, S., Li, S., Testa, F., Zekveld-Vroon, R., Wang, X., Pomares, E., Andorf, J., Aboussair, N., Banfi, S., and 23 others. <strong>Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.</strong> PLoS One 8: e51622, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23308101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23308101</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23308101[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0051622" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23308101">Perrault et al. (2013)</a> identified homozygosity for a 2-bp deletion (c.137_138delAG, GRCh37) in exon 2 of the RD3 gene, causing a frameshift predicted to result in a premature termination codon (Glu46AlafsTer83). The mutation, which segregated with disease, was not found in 151 controls or in published databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23308101" 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">rs786205150 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205150;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=rs786205150" 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=rs786205150" 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=RCV000170308" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000170308" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000170308</a>
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<p>In a 4-year-old Mexican girl with Leber congenital amaurosis-12 (LCA12; <a href="/entry/610612">610612</a>), <a href="#7" class="mim-tip-reference" title="Perrault, I., Estrada-Cuzcano, A., Lopez, I., Kohl, S., Li, S., Testa, F., Zekveld-Vroon, R., Wang, X., Pomares, E., Andorf, J., Aboussair, N., Banfi, S., and 23 others. <strong>Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.</strong> PLoS One 8: e51622, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23308101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23308101</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23308101[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0051622" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23308101">Perrault et al. (2013)</a> identified homozygosity for a c.136G-T transversion (c.136G-T, GRCh37) in exon 2 of the RD3 gene, predicted to result in a glu46-to-ter (E46X) substitution and/or to create a cryptic donor splice site resulting in a 141-amino acid protein lacking residues 46 to 99, including a putative coiled-coil domain. The mutation, which segregated with disease, was not found in 151 controls or in published databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23308101" 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>REFERENCES</strong>
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<a id="Azadi2010" class="mim-anchor"></a>
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Azadi, S., Molday, L. L., Molday, R. S.
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<strong>RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells.</strong>
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Proc. Nat. Acad. Sci. 107: 21158-21163, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21078983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21078983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21078983[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21078983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.1010460107" target="_blank">Full Text</a>]
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Chang, B., Heckenlively, J. R., Hawes, N. L., Roderick, T. H.
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<strong>New mouse primary retinal degeneration (rd-3).</strong>
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Genomics 16: 45-49, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486383</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8486383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1993.1138" target="_blank">Full Text</a>]
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Friedman, J. S., Chang, B., Kannabiran, C., Chakarova, C., Singh, H. P., Jalali, S., Hawes, N. L., Branham, K., Othman, M., Filippova, E., Thompson, D. A., Webster, A. R., Andreasson, S., Jacobson, S. G., Bhattacharya, S. S., Heckenlively, J. R., Swaroop, A.
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<strong>Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.</strong>
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Am. J. Hum. Genet. 79: 1059-1070, 2006. Note: Erratum: Am. J. Hum. Genet. 80: 388 only, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17186464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17186464</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17186464[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17186464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/510021" 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="4" class="mim-anchor"></a>
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<a id="Kukekova2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kukekova, A. V., Goldstein, O., Johnson, J. L., Richardson, M. A., Pearce-Kelling, S. E., Swaroop, A., Friedman, J. S., Aguirre, G. D., Acland, G. M.
|
|
<strong>Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3.</strong>
|
|
Mammalian Genome 20: 109-123, 2009.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19130129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19130129</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19130129[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19130129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00335-008-9163-4" 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="Lavorgna2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lavorgna, G., Lestingi, M., Ziviello, C., Testa, F., Simonelli, F., Manitto, M. P., Brancato, R., Ferrari, M., Rinaldi, E., Ciccodicola, A., Banfi, S.
|
|
<strong>Identification and characterization of Clorf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.</strong>
|
|
Biochem. Biophys. Res. Commun. 308: 414-421, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12914764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12914764</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12914764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0006-291x(03)01410-4" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Molday2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Molday, L. L., Djajadi, H., Yan, P., Szczygiel, L., Boye, S. L., Chiodo, V. A., Gregory-Evans, K., Sarunic, M. V., Hauswirth, W. W., Molday, R. S.
|
|
<strong>RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12.</strong>
|
|
Hum. Molec. Genet. 22: 3894-3905, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23740938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23740938</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23740938[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23740938" 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/ddt244" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Perrault2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Perrault, I., Estrada-Cuzcano, A., Lopez, I., Kohl, S., Li, S., Testa, F., Zekveld-Vroon, R., Wang, X., Pomares, E., Andorf, J., Aboussair, N., Banfi, S., and 23 others.
|
|
<strong>Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.</strong>
|
|
PLoS One 8: e51622, 2013. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23308101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23308101</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23308101[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23308101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1371/journal.pone.0051622" 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="Preising2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Preising, M. N., Hausotter-Will, N., Solbach, M. C., Friedburg, C., Ruschendorf, F., Lorenz, B.
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<strong>Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.</strong>
|
|
Invest. Ophthal. Vis. Sci. 53: 3463-3472, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22531706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22531706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22531706[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22531706" 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/10.1167/iovs.12-9519" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 4/20/2015
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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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Patricia A. Hartz - updated : 6/4/2013<br>Patricia A. Hartz - updated : 1/15/2010<br>Victor A. McKusick - updated : 11/27/2006
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 5/4/1993
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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|
carol : 09/07/2022
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</span>
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</div>
|
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</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 08/28/2019<br>alopez : 04/22/2015<br>mcolton : 4/20/2015<br>carol : 9/17/2013<br>mgross : 6/4/2013<br>mgross : 6/4/2013<br>carol : 4/12/2013<br>mgross : 4/8/2011<br>terry : 1/15/2010<br>carol : 4/3/2009<br>joanna : 11/30/2006<br>alopez : 11/29/2006<br>terry : 11/27/2006<br>joanna : 11/14/2006<br>carol : 11/13/2006<br>dkim : 7/7/1998<br>mimadm : 3/25/1995<br>carol : 5/21/1993<br>carol : 5/4/1993
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
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<strong>*</strong> 180040
|
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</span>
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</h3>
|
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</div>
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<div>
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<h3>
|
|
<span class="mim-font">
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|
|
RD3 REGULATOR OF GUCY2D; RD3
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</span>
|
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</h3>
|
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
RETINAL DEGENERATION 3<br />
|
|
RETINAL DEGENERATION 3, MOUSE, HOMOLOG OF<br />
|
|
CHROMOSOME 1 OPEN READING FRAME 36; C1ORF36
|
|
</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">
|
|
<strong><em>HGNC Approved Gene Symbol: RD3</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>
|
|
<em>
|
|
Cytogenetic location: 1q32.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 1:211,476,522-211,492,162 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
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</p>
|
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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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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
1q32.3
|
|
</span>
|
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</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Leber congenital amaurosis 12
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
610612
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
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|
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</tr>
|
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|
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|
|
</tbody>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
<span class="mim-text-font">
|
|
<p>By searching databases for sequences expressed in retina and/or pineal gland, followed by PCR of an adult retina cDNA library, Lavorgna et al. (2003) cloned C1ORF36. The deduced 195-amino acid protein has a calculated molecular mass of 22.7 kD. It contains an N-terminal mitochondrial targeting signal, a possible coiled-coil domain, and 2 potential phosphorylation sites. Lavorgna et al. (2003) identified ESTs representing an alternatively spliced transcript that lacks exon 2 and encodes a protein lacking the first 128 amino acids. Other ESTs suggested the presence of alternative 5-prime exons. PCR analysis of 6 human tissues detected C1ORF36 only in retina. In situ hybridization of adult mouse retina detected expression in the outer nuclear layer, the inner nuclear layer, and the ganglion cell layer. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
|
<span class="mim-text-font">
|
|
<p>Lavorgna et al. (2003) determined that the C1ORF36 gene contains at least 3 exons and spans over 15.45 kb. The mouse C1orf36 gene also contains at least 3 exons. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
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|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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|
|
<span class="mim-text-font">
|
|
<p>By linkage analysis, Chang et al. (1993) mapped the mouse rd3 gene to chromosome 1, about 10 cM distal to Akp1 (alkaline phosphatase-1). Chang et al. (1993) suggested that the homologous human locus may be on chromosome 1q. </p><p>By genomic sequence analysis, Lavorgna et al. (2003) mapped the C1ORF36 gene to chromosome 1q32.3. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
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<span class="mim-text-font">
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<p>Friedman et al. (2006) found that mouse Rd3 is preferentially expressed in the retina and exhibits increasing expression through early postnatal development. In transiently transfected COS-1 cells, the Rd3 fusion protein showed subnuclear localization adjacent to promyelocytic leukemia gene product (PML; 102578) bodies. </p><p>By coimmunoprecipitation of mouse retinal extracts, Azadi et al. (2010) found that Rd3 bound the photoreceptor guanylate cyclases Gc1 (GUCY2D; 600179) and Gc2 (GUCY2F; 300041). They confirmed interaction of Rd3 with Gc1 in transfected HEK293 cells. A short C-terminal segment of Gc1 was required for Rd3 binding. When expressed alone in COS-7 cells, Rd3 colocalized with the endosomal recycling marker Rab11 (see RAB11A; 605570) in a pattern characteristic of intracellular vesicles, whereas Gc1 localized in a perinuclear distribution characteristic of endoplasmic reticulum (ER). When coexpressed, Gc1 was exported from the ER to endosomal vesicles containing Rd3 and Rab11. Retinal extracts from Rd3 mice (see ANIMAL MODEL) lacked Gc1 protein expression and showed reduced Gc2 protein expression compared with wildtype. The GC-activating proteins Gcap1 (GUCA1A; 600364) and Gcap2 (GUCA1B; 602275) also showed reduced expression in Rd3 mice, as well as mislocalization to the inner segment of photoreceptor cells. Azadi et al. (2010) proposed that RD3 may be an accessory protein required for vesicle trafficking of GCs from inner to outer segments of rod and cone cells and that it may modulate GC enzymatic activity. </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>To explore potential association of the human RD3 gene with retinopathies, Friedman et al. (2006) performed a mutation screen of 881 probands from North America, India, and Europe. In addition to several alterations of uncertain significance, they identified a homozygous alteration in the invariant G nucleotide of the RD3 exon 2 donor splice site in 2 sibs with Leber congenital amaurosis (LCA12; 610612). This mutation was predicted to result in premature termination of the RD3 protein. Friedman et al. (2006) suggested that the retinopathy-associated RD3 protein is part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing. </p><p>In a large consanguineous Kurdish family with LCA mapping to chromosome 1q32, Preising et al. (2012) directly sequenced the RD3 gene and identified homozygosity for a nonsense mutation (Y60X; 180040.0002) that segregated with disease in the family. Analysis of 85 unrelated patients with severe early-onset retinal dystrophy did not reveal any more causative RD3 mutations. Preising et al. (2012) concluded that sequence changes in the RD3 gene are a very rare cause of LCA. </p><p>Using DNA samples from 852 unrelated patients ascertained worldwide with LCA or early-onset severe retinal degeneration, Perrault et al. (2013) screened the RD3 gene and identified homozygosity for 3 truncating mutations in 7 probands from consanguineous LCA families (180040.0003-180040.0005). </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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By mutation analysis of the coding region of the C1ORF36 gene in 300 unrelated patients with retinitis pigmentosa (RP; see 268000) patients and unrelated unaffected individuals, Lavorgna et al. (2003) found no mutations that segregated with the disease. </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>Chang et al. (1993) postulated the existence of a form of retinal degeneration in humans, possibly a form of retinitis pigmentosa, homologous to a primary retinal degeneration, termed rd3, in the mouse. The retinal differentiation in the mouse proceeded postnatally through 2 weeks, and photoreceptor degeneration started by 3 weeks. The rod photoreceptor loss was essentially complete by 5 weeks, whereas remnant cone cells were seen through 7 weeks. This was the only murine homozygous retinal degeneration reported to that time in which photoreceptors were initially normal. </p><p>Using the positional candidate approach, Friedman et al. (2006) identified a C-to-T transition in the mouse Rd3 gene. The Rd3 mutation resulted in a predicted stop codon after residue 106. This change was observed in 4 Rd3 lines derived from the original collected mice but not in 9 wildtype mouse strains examined. The truncated mutant Rd3 protein was detectable in COS-1 cells but appeared to be degraded rapidly. </p><p>Canine rod-cone dysplasia type-2 (rcd2) is inherited as a simple autosomal recessive trait specifically in rough and smooth collies. Night blindness is the earliest clinical sign detected in 6-week-old rcd2 dogs, followed by retinal dysfunction and failure to develop normal rod and cone outer segments. Rcd2 dogs become functionally blind by 6 to 8 months of age. Kukekova et al. (2009) identified an insertion in the canine Rd3 gene that cosegregated with rcd2 in affected dogs. Unlike mouse and human RD3, which each have a single transcript, canine Rd3 produces 3 splice variants. The insertion only affected 1 of these variants and was predicted to alter the last 61 codons of the normal ORF and further extended the ORF. </p><p>By immunofluorescence microscopy, Molday et al. (2013) observed that strong RD3 transgene expression in a strain of Rd3-deficient mice resulted in the translocation of guanylate cyclase from the endoplasmic reticulum (ER) to rod and cone outer segments. Guanylate cyclase expression and localization coincided with the survival of rod and cone photoreceptors for at least 7 months. Molday et al. (2013) concluded that RD3 plays an essential role in the exit of guanylate cyclase from the ER and in its trafficking to photoreceptor outer segments. </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>5 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 LEBER CONGENITAL AMAUROSIS 12</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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RD3, IVS2DS, G-A, +1
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<br />
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SNP: rs386834260,
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gnomAD: rs386834260,
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ClinVar: RCV000014001
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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 sibs with Leber congenital amaurosis-12 (LCA12; 610612) from an Indian family, Friedman et al. (2006) identified a homozygous donor splice site mutation, 296+1G-A, in the RD3 gene. The change was present in heterozygous state in unaffected members of the family. </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 LEBER CONGENITAL AMAUROSIS 12</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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RD3, TYR60TER
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<br />
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SNP: rs762631020,
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gnomAD: rs762631020,
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ClinVar: RCV000170305, RCV001726018
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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 7 affected individuals from 4 sibships of a large consanguineous Kurdish family with Leber congenital amaurosis mapping to chromosome 1q32 (LCA12; 610612), Preising et al. (2012) identified homozygosity for a c.180C-A transversion (c.180C-A, GRCh37) in the RD3 gene, resulting in a tyr60-to-ter (Y60X) substitution predicted to truncate approximately two-thirds of the gene product. Clinical data were available for 6 of the affected individuals. The unaffected parents were all heterozygous for the mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 LEBER CONGENITAL AMAUROSIS 12</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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RD3, ARG38TER
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<br />
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SNP: rs786205148,
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gnomAD: rs786205148,
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ClinVar: RCV000170306, RCV001814086, RCV003895172, RCV004815266
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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 9 affected individuals from 5 unrelated consanguineous families (2 Moroccan, 2 Turkish, and 1 Lebanese) with Leber congenital amaurosis (LCA12; 610612), Perrault et al. (2013) identified homozygosity for a c.112C-T transition (c.112C-T, GRCh37) in exon 2 of the RD3 gene, predicted to result in an arg38-to-ter (R38X) substitution and/or to create a cryptic donor splice site resulting in a 132-amino acid protein lacking residues 38 to 99, including a putative coiled-coil domain. The mutation, which segregated with disease in each family, was not found in 151 controls or in published databases. Haplotype analysis performed in 4 of the families revealed a 1-Mb shared region present in the 2 Moroccan families and 1 of the Turkish families consistent with a founder mutation that had originated 100 to 150 generations previously. The Lebanese family carried a different haplotype. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0004 LEBER CONGENITAL AMAUROSIS 12</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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RD3, 2-BP DEL, 137AG
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<br />
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SNP: rs786205149,
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|
|
ClinVar: RCV000170307
|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 21-year-old Moroccan woman with Leber congenital amaurosis-12 (LCA12; 610612), Perrault et al. (2013) identified homozygosity for a 2-bp deletion (c.137_138delAG, GRCh37) in exon 2 of the RD3 gene, causing a frameshift predicted to result in a premature termination codon (Glu46AlafsTer83). The mutation, which segregated with disease, was not found in 151 controls or in published databases. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 LEBER CONGENITAL AMAUROSIS 12</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
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|
|
RD3, GLU46TER
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<br />
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|
|
SNP: rs786205150,
|
|
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|
|
|
|
ClinVar: RCV000170308
|
|
|
|
|
|
</span>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4-year-old Mexican girl with Leber congenital amaurosis-12 (LCA12; 610612), Perrault et al. (2013) identified homozygosity for a c.136G-T transversion (c.136G-T, GRCh37) in exon 2 of the RD3 gene, predicted to result in a glu46-to-ter (E46X) substitution and/or to create a cryptic donor splice site resulting in a 141-amino acid protein lacking residues 46 to 99, including a putative coiled-coil domain. The mutation, which segregated with disease, was not found in 151 controls or in published databases. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Azadi, S., Molday, L. L., Molday, R. S.
|
|
<strong>RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells.</strong>
|
|
Proc. Nat. Acad. Sci. 107: 21158-21163, 2010.
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[PubMed: 21078983]
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[Full Text: https://doi.org/10.1073/pnas.1010460107]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Chang, B., Heckenlively, J. R., Hawes, N. L., Roderick, T. H.
|
|
<strong>New mouse primary retinal degeneration (rd-3).</strong>
|
|
Genomics 16: 45-49, 1993.
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[PubMed: 8486383]
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[Full Text: https://doi.org/10.1006/geno.1993.1138]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Friedman, J. S., Chang, B., Kannabiran, C., Chakarova, C., Singh, H. P., Jalali, S., Hawes, N. L., Branham, K., Othman, M., Filippova, E., Thompson, D. A., Webster, A. R., Andreasson, S., Jacobson, S. G., Bhattacharya, S. S., Heckenlively, J. R., Swaroop, A.
|
|
<strong>Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.</strong>
|
|
Am. J. Hum. Genet. 79: 1059-1070, 2006. Note: Erratum: Am. J. Hum. Genet. 80: 388 only, 2007.
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[PubMed: 17186464]
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[Full Text: https://doi.org/10.1086/510021]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Kukekova, A. V., Goldstein, O., Johnson, J. L., Richardson, M. A., Pearce-Kelling, S. E., Swaroop, A., Friedman, J. S., Aguirre, G. D., Acland, G. M.
|
|
<strong>Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3.</strong>
|
|
Mammalian Genome 20: 109-123, 2009.
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[PubMed: 19130129]
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[Full Text: https://doi.org/10.1007/s00335-008-9163-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lavorgna, G., Lestingi, M., Ziviello, C., Testa, F., Simonelli, F., Manitto, M. P., Brancato, R., Ferrari, M., Rinaldi, E., Ciccodicola, A., Banfi, S.
|
|
<strong>Identification and characterization of Clorf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.</strong>
|
|
Biochem. Biophys. Res. Commun. 308: 414-421, 2003.
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[PubMed: 12914764]
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[Full Text: https://doi.org/10.1016/s0006-291x(03)01410-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Molday, L. L., Djajadi, H., Yan, P., Szczygiel, L., Boye, S. L., Chiodo, V. A., Gregory-Evans, K., Sarunic, M. V., Hauswirth, W. W., Molday, R. S.
|
|
<strong>RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12.</strong>
|
|
Hum. Molec. Genet. 22: 3894-3905, 2013.
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[PubMed: 23740938]
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[Full Text: https://doi.org/10.1093/hmg/ddt244]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Perrault, I., Estrada-Cuzcano, A., Lopez, I., Kohl, S., Li, S., Testa, F., Zekveld-Vroon, R., Wang, X., Pomares, E., Andorf, J., Aboussair, N., Banfi, S., and 23 others.
|
|
<strong>Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.</strong>
|
|
PLoS One 8: e51622, 2013. Note: Electronic Article.
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[PubMed: 23308101]
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[Full Text: https://doi.org/10.1371/journal.pone.0051622]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Preising, M. N., Hausotter-Will, N., Solbach, M. C., Friedburg, C., Ruschendorf, F., Lorenz, B.
|
|
<strong>Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.</strong>
|
|
Invest. Ophthal. Vis. Sci. 53: 3463-3472, 2012.
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[PubMed: 22531706]
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[Full Text: https://doi.org/10.1167/iovs.12-9519]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 4/20/2015<br>Patricia A. Hartz - updated : 6/4/2013<br>Patricia A. Hartz - updated : 1/15/2010<br>Victor A. McKusick - updated : 11/27/2006
|
|
</span>
|
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 5/4/1993
|
|
</span>
|
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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