3964 lines
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Entry
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- *600827 - PHOSPHODIESTERASE 6C; PDE6C
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- OMIM
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<p>
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<span class="h4">*600827</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<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 role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600827">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<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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<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=ENSG00000095464;t=ENST00000371447" 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=5146" 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=600827" 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 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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</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=ENSG00000095464;t=ENST00000371447" 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_006204" 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_006204" 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=600827" 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=02898&isoform_id=02898_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/PDE6C" 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/773347,940231,1149517,90111861,119570448,119570449,157364939" 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/P51160" 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=5146" 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=ENSG00000095464;t=ENST00000371447" 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=PDE6C" 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=PDE6C" 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+5146" 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/PDE6C" 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:5146" 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/5146" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr10&hgg_gene=ENST00000371447.4&hgg_start=93612537&hgg_end=93666010&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8787" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:8787" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/pde6c" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600827[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=600827[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/ENSG00000095464" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=PDE6C" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=PDE6C" 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=PDE6C" 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=PDE6C&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/PA33135" 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:8787" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0038237.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:105956" 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/PDE6C#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:105956" 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/5146/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/OMIA002163/" 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=5146" 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-040426-1664" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5146" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=PDE6C&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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600827
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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PHOSPHODIESTERASE 6C; PDE6C
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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PHOSPHODIESTERASE 6C, cGMP-SPECIFIC, CONE, ALPHA-PRIME<br />
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PDEA2
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PDE6C" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PDE6C</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/10/409?start=-3&limit=10&highlight=409">10q23.33</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr10:93612537-93666010&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">10:93,612,537-93,666,010</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
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<a href="/geneMap/10/409?start=-3&limit=10&highlight=409">
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10q23.33
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Cone dystrophy 4
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613093"> 613093 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/600827" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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|
<li><a href="/graph/radial/600827" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<p>In the retinal rods, phosphodiesterase (PDE) is composed of an 88-kD alpha subunit (<a href="/entry/180071">180071</a>), an 84-kD beta subunit (<a href="/entry/180072">180072</a>) and two 11-kD gamma subunits (<a href="/entry/180073">180073</a>), while in cones PDE occurs as a homodimer of two 94-kD alpha-prime subunits (PDE6C) that are associated with 3 smaller proteins of 11, 13, and 15 kD. The 11- and 13-kD proteins are similar to the rod gamma subunits, while the 15-kD delta subunit binds to both cone and rod PDE. <a href="#3" class="mim-tip-reference" title="Li, T., Volpp, K., Applebury, M. L. <strong>Bovine cone photoreceptor cGMP phosphodiesterase structure deduced from a cDNA clone.</strong> Proc. Nat. Acad. Sci. 87: 293-297, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2153291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2153291</a>] [<a href="https://doi.org/10.1073/pnas.87.1.293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2153291">Li et al. (1990)</a> cloned the bovine cone photoreceptor cGMP phosphodiesterase alpha-prime subunit (which they called PDEA2) from a retinal cDNA library using a portion of the rod cGMP PDE alpha subunit as a probe. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2153291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Piriev, N. I., Viczian, A. S., Ye, J., Kerner, B., Korenberg, J. R., Farber, D. B. <strong>Gene structure and amino acid sequence of the human cone photoreceptor cGMP-phosphodiesterase alpha-prime subunit (PDEA2) and its chromosomal localization to 10q24.</strong> Genomics 28: 429-435, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7490077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7490077</a>] [<a href="https://doi.org/10.1006/geno.1995.1171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7490077">Piriev et al. (1995)</a> showed that the human PDEA2 gene encodes an 858-amino acid protein that is 93% identical to the bovine sequence. The protein contains 2 cGMP binding domains and a C-terminal catalytic domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7490077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Feshchenko, E. A., Andreeva, S. G., Suslova, V. A., Smirnova, E. V., Zagranichny, V. E., Lipkin, V. M. <strong>Human cone-specific cGMP phosphodiesterase alpha-prime subunit: complete cDNA sequence and gene arrangement.</strong> FEBS Lett. 381: 149-152, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8641425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8641425</a>] [<a href="https://doi.org/10.1016/0014-5793(96)00104-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8641425">Feshchenko et al. (1996)</a> likewise reported the complete cDNA sequence. It was found to be 3,455 bp in length and to encode a polypeptide of 858 amino acids and a calculated molecular mass of 99,169 Da. The deduced amino acid sequence displayed high homology to the alpha, beta, and alpha-prime subunits of bovine, human, chicken, and mouse photoreceptor PDEs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8641425" 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="Piriev, N. I., Viczian, A. S., Ye, J., Kerner, B., Korenberg, J. R., Farber, D. B. <strong>Gene structure and amino acid sequence of the human cone photoreceptor cGMP-phosphodiesterase alpha-prime subunit (PDEA2) and its chromosomal localization to 10q24.</strong> Genomics 28: 429-435, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7490077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7490077</a>] [<a href="https://doi.org/10.1006/geno.1995.1171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7490077">Piriev et al. (1995)</a> showed that the human PDEA2 gene consists of 22 exons spanning approximately 48 kb of genomic DNA. The intron-exon structure of human PDE6C is very similar to that of rod PDE6B (<a href="/entry/180072">180072</a>), suggesting a recent evolutionary history. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7490077" 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="Piriev, N. I., Viczian, A. S., Ye, J., Kerner, B., Korenberg, J. R., Farber, D. B. <strong>Gene structure and amino acid sequence of the human cone photoreceptor cGMP-phosphodiesterase alpha-prime subunit (PDEA2) and its chromosomal localization to 10q24.</strong> Genomics 28: 429-435, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7490077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7490077</a>] [<a href="https://doi.org/10.1006/geno.1995.1171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7490077">Piriev et al. (1995)</a> mapped the PDE6C gene to 10q24 by fluorescence in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7490077" 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="#6" class="mim-tip-reference" title="Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W. <strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 85: 240-247, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19615668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19615668</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19615668[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/10.1016/j.ajhg.2009.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19615668">Thiadens et al. (2009)</a> identified homozygous and compound heterozygous mutations in the PDE6C gene (<a href="#0001">600827.0001</a>-<a href="#0006">600827.0006</a>) in affected members of 4 families with early-onset cone photoreceptor disorders, ranging from early-onset cone dystrophy (COD4; <a href="/entry/613093">613093</a>) to complete achromatopsia (ACHM5; see <a href="/entry/613093">613093</a>). Electroretinogram (ERG) analysis in the 2 oldest mutation-positive patients at ages 47 and 51 years, respectively, showed absent cone responses but no abnormal rod responses, and normal rod responses were also observed in the 3 patients with complete achromatopsia. <a href="#6" class="mim-tip-reference" title="Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W. <strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 85: 240-247, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19615668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19615668</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19615668[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/10.1016/j.ajhg.2009.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19615668">Thiadens et al. (2009)</a> concluded that rod involvement does not appear to be a major consequence of PDE6C mutations, although they noted that some dysfunction of rods may still occur later in life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19615668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 2 families and 2 sporadic patients with achromatopsia-5, <a href="#1" class="mim-tip-reference" title="Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B. <strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong> Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19887631[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.0907720106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19887631">Chang et al. (2009)</a> identified homozygosity or compound heterozygosity for mutations in the PDE6C gene (<a href="#0007">600827.0007</a>-<a href="#0013">600827.0013</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19887631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In cpfl1 mice, which lack cone function and show rapid degeneration of cone photoreceptors, <a href="#1" class="mim-tip-reference" title="Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B. <strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong> Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19887631[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.0907720106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19887631">Chang et al. (2009)</a> performed linkage analysis and identified a 0.7-cM interval containing the candidate gene Pde6c. Comparative cDNA analysis revealed the presence of a 116-bp insertion and a 1-bp deletion in the Pde6c gene of the mutant mice; both mutations were predicted to introduce premature termination codons. At 3 weeks of age, ERGs in cpfl1 mice showed normal dark-adapted responses, whereas light-adapted responses representing cone function were virtually absent. Retinal histology revealed grossly normal morphology and layering, but as early as 3 weeks of age there was vacuolization of a small subset of cells in the photoreceptor layer with subsequent rapid, progressive depletion of cone photoreceptors. In addition, <a href="#1" class="mim-tip-reference" title="Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B. <strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong> Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19887631[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.0907720106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19887631">Chang et al. (2009)</a> observed swollen and pyknotic nuclei in the inner nuclear layer; loss of cones progressed such that only very few could be detected in retinal sections of 5-month-old cpfl1 mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19887631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Moshiri, A., Chen, R., Kim, S., Harris, R. A., Li, Y., Raveendran, M., Davis, S., Liang, Q., Pomerantz, O., Wang, J., Garzel, L., Cameron, A., and 10 others. <strong>A nonhuman primate model of inherited retinal disease.</strong> J. Clin. Invest. 129: 863-874, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30667376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30667376</a>] [<a href="https://doi.org/10.1172/JCI123980" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30667376">Moshiri et al. (2019)</a> reported 4 visually impaired rhesus macaques that showed signs of achromatopsia nearly identical to those of the human condition. All 4 monkeys were homozygous for an arg565-to-gln (R565Q) mutation in Pde6c that altered a conserved residue in the catalytic domain of the enzyme, specifically within the first metal-binding motif critical for hydrolysis of cyclic nucleotides. Both parents of the affected rhesus macaques were heterozygous for the mutation, and multiple unaffected sibs were heterozygous or did not have the mutation. In transfected HEK293T cells, Pde6c with the R565Q mutation showed normal localization but profoundly diminished enzymatic activity compared with wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30667376" 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> rs121918537 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918537;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/rs121918537?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=rs121918537" 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=rs121918537" 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=RCV000009308 OR RCV000761206 OR RCV001389961" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009308, RCV000761206, RCV001389961" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009308...</a>
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<p><strong><em>Cone Dystrophy 4</em></strong></p><p>
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In 2 brothers with early-onset cone dystrophy (COD4; <a href="/entry/613093">613093</a>), <a href="#6" class="mim-tip-reference" title="Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W. <strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 85: 240-247, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19615668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19615668</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19615668[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/10.1016/j.ajhg.2009.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19615668">Thiadens et al. (2009)</a> identified homozygosity for an 85C-T transition in exon 1 of the PDE6C gene, resulting in an arg29-to-trp (R29W) substitution at a conserved residue just upstream from the first GAF domain. The mutation was not found in 180 ethnically matched controls. The brothers had severe color vision defects with a reduced cone response on ERG when first examined at ages 6 and 7 years, respectively; they also had photophobia and nystagmus, with progressive decline in their visual acuity during their teens. ERG examination at ages 51 and 47 years, respectively, revealed no cone responses, whereas rod responses were normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19615668" 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>Achromatopsia 5</em></strong></p><p>
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In a patient (patient 15) diagnosed with achromatopsia (ACHM5; see <a href="/entry/613093">613093</a>), <a href="#7" class="mim-tip-reference" title="Weisschuh, N., Stingl, K., Audo, I., Biskup, S., Bocquet, B., Branham, K., Burstedt, M. S., De Baere, E., De Vries, M. J., Golovleva, I., Green, A., Heckenlively, J., Leroy, B. P., Meunier, I., Traboulsi, E., Wissinger, B., Kohl, S. <strong>Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.</strong> Hum. Mutat. 39: 1366-1371, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30080950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30080950</a>] [<a href="https://doi.org/10.1002/humu.23606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30080950">Weisschuh et al. (2018)</a> identified compound heterozygosity for the R29W mutation (c.85C-T, NM_006204.3) and a c.836T-C transition in the PDE6C gene, resulting in an ile279-to-thr (I279T; <a href="#0014">600827.0014</a>) substitution in the GAF domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30080950" 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>.0002 ACHROMATOPSIA 5</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918538 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918538;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=rs121918538" 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=rs121918538" 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=RCV000009309" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009309" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009309</a>
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<p>In a sister and brother with incomplete achromatopsia (ACHM5; see <a href="/entry/613093">613093</a>), born of consanguineous parents, <a href="#6" class="mim-tip-reference" title="Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W. <strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 85: 240-247, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19615668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19615668</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19615668[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/10.1016/j.ajhg.2009.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19615668">Thiadens et al. (2009)</a> identified homozygosity for a 967T-A transversion in exon 6 of the PDE6C gene, resulting in a tyr323-to-asn (Y323N) substitution at a fully conserved residue within the second GAF domain. The parents were each heterozygous for the mutation, which was not found in 180 ethnically matched controls. Both sibs had nystagmus but no photophobia upon initial examination at ages 7 and 10, respectively, and initial visual acuities of 0.16 (20/100) in their best eyes declined to 0.10 (20/200) over the next decade. The brother showed significantly reduced but measurable cone responses on ERG examinations at ages 10 and 20 years, with normal rod parameters. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19615668" 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">rs786200908 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786200908;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=rs786200908" 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=rs786200908" 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=RCV000009310 OR RCV001851759" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009310, RCV001851759" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009310...</a>
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<p>In a 4-year-old boy with complete achromatopsia (ACHM5; see <a href="/entry/613093">613093</a>), <a href="#6" class="mim-tip-reference" title="Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W. <strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 85: 240-247, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19615668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19615668</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19615668[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/10.1016/j.ajhg.2009.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19615668">Thiadens et al. (2009)</a> identified compound heterozygosity for a 2-bp duplication (257dupAG) in exon 1 of the PDE6C gene, predicted to result in premature termination, and a 5-bp deletion in intron 20 (2367+1delGTAAG; <a href="#0004">600827.0004</a>) that removes the splice donor site and is predicted to result in use of an alternative splice site causing a frameshift and premature termination of the protein. The mutations were not found in 180 ethnically matched controls. At 4 years of age, the patient had a visual acuity of 0.10 (20/200) with severe photophobia and nystagmus; ERG revealed nonrecordable cone function, with completely normal rod function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19615668" 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">rs796051871 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs796051871;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=rs796051871" 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=rs796051871" 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=RCV000009311 OR RCV000658573 OR RCV002250457 OR RCV004814865" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009311, RCV000658573, RCV002250457, RCV004814865" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009311...</a>
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<p>For discussion of the 5-bp deletion in the PDE6C gene (2367+1delGTAAG) that was found in compound heterozygous state in a patient with complete achromatopsia (ACHM5; see <a href="/entry/613093">613093</a>) by <a href="#6" class="mim-tip-reference" title="Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W. <strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 85: 240-247, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19615668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19615668</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19615668[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/10.1016/j.ajhg.2009.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19615668">Thiadens et al. (2009)</a>, see <a href="#0003">600827.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19615668" 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">rs121918539 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918539;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=rs121918539" 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=rs121918539" 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=RCV000009312" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009312" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009312</a>
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<p>In 2 sisters who were clinically diagnosed with complete achromatopsia (ACHM5; see <a href="/entry/613093">613093</a>), <a href="#6" class="mim-tip-reference" title="Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W. <strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 85: 240-247, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19615668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19615668</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19615668[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/10.1016/j.ajhg.2009.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19615668">Thiadens et al. (2009)</a> identified compound heterozygosity for a 1363A-G transition in exon 10 of the PDE6C gene, resulting in a met455-to-val (M455V) substitution at a conserved residue located just downstream of the GAF-B domain, and a 633G-C transversion in exon 2 (<a href="#0006">600827.0006</a>), resulting in a functionally neutral missense change. The authors noted that the mutation was predicted to completely abolish the splice donor site, resulting loss of exon 2 or inclusion of intron 2. The unaffected parents were each heterozygous for 1 of the mutations, respectively; the mutations were not found in 180 ethnically matched controls. The sisters were first examined at ages 11 and 12 years, respectively, and had severe photophobia, nystagmus, and visual acuities of 0.16 (20/100) in their best eyes, which declined to 1.10 (20/200) over the next 2 decades. ERG examinations showed no cone responses even in childhood, but normal rod responses were observed at ages 36 and 37 years, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19615668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 ACHROMATOPSIA 5</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906401 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906401;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=rs387906401" 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=rs387906401" 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=RCV000009313" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009313" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009313</a>
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<p>For discussion of the 633G-C transversion in exon 2 of the PDE6C gene that was found in compound heterozygous state in 2 sisters with complete achromatopsia (ACHM5; see <a href="/entry/613093">613093</a>) by <a href="#6" class="mim-tip-reference" title="Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W. <strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 85: 240-247, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19615668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19615668</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19615668[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/10.1016/j.ajhg.2009.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19615668">Thiadens et al. (2009)</a>, see <a href="#0005">600827.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19615668" 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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PDE6C, IVS1AS, T-A, -12
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs786200909 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786200909;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=rs786200909" 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=rs786200909" 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=RCV000009315" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009315" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009315</a>
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<p>In 2 sisters with achromatopsia-5 (ACHM5; see <a href="/entry/613093">613093</a>), <a href="#1" class="mim-tip-reference" title="Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B. <strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong> Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19887631[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.0907720106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19887631">Chang et al. (2009)</a> identified compound heterozygosity for a 481-12T-A transversion in intron 1 and a 1483-2A-G transition in intron 11 (<a href="#0008">600827.0008</a>) of the PDE6C gene. Their unaffected mother was heterozygous for the 481-12T-A mutation, which was not found in 100 controls, and their unaffected father and an unaffected brother were heterozygous for the 1483-2A-G mutation. Transient expression studies in COS-7 cells showed that the 481-12T-A mutation activates a cryptic splice site 10 nucleotides upstream of the genuine 3-prime splice acceptor site, resulting in a frameshift and insertion of a premature termination codon, whereas the 1483-2A-G mutation causes a complete loss of exon 12, predicting an in-frame deletion of 49 amino acid residues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19887631" 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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PDE6C, IVS11AS, A-G, -2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs786200910 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786200910;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=rs786200910" 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=rs786200910" 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=RCV000009316" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009316" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009316</a>
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<p>For discussion of the 1483-2A-G transition in intron 11 of the PDE6C gene that was found in compound heterozygous state in 2 sisters with achromatopsia-5 (ACHM5; see <a href="/entry/613093">613093</a>) by <a href="#1" class="mim-tip-reference" title="Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B. <strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong> Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19887631[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.0907720106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19887631">Chang et al. (2009)</a>, see <a href="#0007">600827.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19887631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 ACHROMATOPSIA 5</strong>
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PDE6C, HIS602LEU
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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> rs267606934 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606934;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/rs267606934?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=rs267606934" 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=rs267606934" 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=RCV000009317" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009317" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009317</a>
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<p>In 2 brothers with achromatopsia-5 (ACHM5; see <a href="/entry/613093">613093</a>), <a href="#1" class="mim-tip-reference" title="Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B. <strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong> Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19887631[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.0907720106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19887631">Chang et al. (2009)</a> identified compound heterozygosity for a 1805A-T transversion and a 2368G-A transition in the PDE6C gene, resulting in a his602-to-leu (H602L) and a glu790-to-lys (E790K; <a href="#0010">600827.0010</a>) substitution, respectively. Their unaffected mother was heterozygous for H602L, whereas their unaffected father and an unaffected sister were heterozygous for E790K; neither mutation was found in 100 controls. Transient expression studies in COS-7 cells showed that the 2368G-A mutation induced a partial skipping of exon 21 that predicts a frameshift mutation, but approximately 60% of transcripts were correctly spliced and harbored the E790K substitution. Analysis of cGMP hydrolysis activity in Sf9 insect cells expressing 'humanized' PDE5/PDE6 constructs containing the mutations revealed only baseline activity for H602L that was not significantly different from the untransfected control, whereas the E790K mutant had considerable residual activity that reached approximately 40% of wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19887631" 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">rs267606936 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606936;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=rs267606936" 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=rs267606936" 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=RCV000009314" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009314" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009314</a>
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<p>For discussion of the glu790-to-lys (E790K) mutation in the PDE6C gene that was found in compound heterozygous state in 2 brothers with achromatopsia-5 (ACHM5; see <a href="/entry/613093">613093</a>) by <a href="#1" class="mim-tip-reference" title="Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B. <strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong> Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19887631[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.0907720106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19887631">Chang et al. (2009)</a>, see <a href="#0009">600827.0009</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19887631" 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> rs267606937 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606937;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/rs267606937?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=rs267606937" 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=rs267606937" 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=RCV000009318" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009318" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009318</a>
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<p>In a male patient with achromatopsia-5 (ACHM5; see <a href="/entry/613093">613093</a>), <a href="#1" class="mim-tip-reference" title="Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B. <strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong> Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19887631[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.0907720106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19887631">Chang et al. (2009)</a> identified compound heterozygosity for an 826C-T transition and a 2457T-A transversion in the PDE6C gene, resulting in an arg276-to-ter (R276X) and a tyr819-to-ter (Y819X; <a href="#0012">600827.0012</a>) substitution, respectively. The mutations were found in heterozygosity in the unaffected parents, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19887631" 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">rs267606935 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606935;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=rs267606935" 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=rs267606935" 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=RCV000009319" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009319" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009319</a>
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<p>For discussion of the tyr819-to-ter (Y819X) mutation in the PDE6C gene that was found in compound heterozygous state in a patient with achromatopsia-5 (ACHM5; see <a href="/entry/613093">613093</a>) by <a href="#1" class="mim-tip-reference" title="Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B. <strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong> Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19887631[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.0907720106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19887631">Chang et al. (2009)</a>, see <a href="#0011">600827.0011</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19887631" 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>.0013 ACHROMATOPSIA 5</strong>
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PDE6C, 1-BP INS, 1682A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs786200911 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786200911;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=rs786200911" 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=rs786200911" 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=RCV000009320" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009320" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009320</a>
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<p>In a male patient with achromatopsia-5 (ACHM5; see <a href="/entry/613093">613093</a>), <a href="#1" class="mim-tip-reference" title="Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B. <strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong> Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19887631[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.0907720106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19887631">Chang et al. (2009)</a> identified homozygosity for a 1-bp insertion (1682_1683insA) in the PDE6C gene, predicted to cause a frameshift resulting in a premature termination codon at residue 561. His unaffected parents and sister were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19887631" 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>.0014 ACHROMATOPSIA 5</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs762152984 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs762152984;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/rs762152984?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=rs762152984" 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=rs762152984" 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=RCV000664197 OR RCV000761207 OR RCV002529035" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000664197, RCV000761207, RCV002529035" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000664197...</a>
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<p>For discussion of the c.836T-C transition (c.836T-C, NM_006204.3) in the PDE6C gene, resulting in an ile279-to-thr (I279T) substitution, that was found in compound heterozygous state in a patient with achromatopsia (ACHM5; see <a href="/entry/613093">613093</a>) by <a href="#7" class="mim-tip-reference" title="Weisschuh, N., Stingl, K., Audo, I., Biskup, S., Bocquet, B., Branham, K., Burstedt, M. S., De Baere, E., De Vries, M. J., Golovleva, I., Green, A., Heckenlively, J., Leroy, B. P., Meunier, I., Traboulsi, E., Wissinger, B., Kohl, S. <strong>Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.</strong> Hum. Mutat. 39: 1366-1371, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30080950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30080950</a>] [<a href="https://doi.org/10.1002/humu.23606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30080950">Weisschuh et al. (2018)</a>, see <a href="#0001">600827.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30080950" 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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Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B.
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<strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong>
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Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19887631[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=19887631" 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.0907720106" 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="2" class="mim-anchor"></a>
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<a id="Feshchenko1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Feshchenko, E. A., Andreeva, S. G., Suslova, V. A., Smirnova, E. V., Zagranichny, V. E., Lipkin, V. M.
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<strong>Human cone-specific cGMP phosphodiesterase alpha-prime subunit: complete cDNA sequence and gene arrangement.</strong>
|
|
FEBS Lett. 381: 149-152, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8641425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8641425</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8641425" 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/10.1016/0014-5793(96)00104-4" 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="3" class="mim-anchor"></a>
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<a id="Li1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Li, T., Volpp, K., Applebury, M. L.
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|
<strong>Bovine cone photoreceptor cGMP phosphodiesterase structure deduced from a cDNA clone.</strong>
|
|
Proc. Nat. Acad. Sci. 87: 293-297, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2153291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2153291</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2153291" 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.87.1.293" 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="Moshiri2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Moshiri, A., Chen, R., Kim, S., Harris, R. A., Li, Y., Raveendran, M., Davis, S., Liang, Q., Pomerantz, O., Wang, J., Garzel, L., Cameron, A., and 10 others.
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<strong>A nonhuman primate model of inherited retinal disease.</strong>
|
|
J. Clin. Invest. 129: 863-874, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30667376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30667376</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30667376" 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/10.1172/JCI123980" 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="Piriev1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Piriev, N. I., Viczian, A. S., Ye, J., Kerner, B., Korenberg, J. R., Farber, D. B.
|
|
<strong>Gene structure and amino acid sequence of the human cone photoreceptor cGMP-phosphodiesterase alpha-prime subunit (PDEA2) and its chromosomal localization to 10q24.</strong>
|
|
Genomics 28: 429-435, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7490077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7490077</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7490077" 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.1995.1171" 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="Thiadens2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W.
|
|
<strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong>
|
|
Am. J. Hum. Genet. 85: 240-247, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19615668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19615668</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19615668[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=19615668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2009.06.016" 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="Weisschuh2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weisschuh, N., Stingl, K., Audo, I., Biskup, S., Bocquet, B., Branham, K., Burstedt, M. S., De Baere, E., De Vries, M. J., Golovleva, I., Green, A., Heckenlively, J., Leroy, B. P., Meunier, I., Traboulsi, E., Wissinger, B., Kohl, S.
|
|
<strong>Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.</strong>
|
|
Hum. Mutat. 39: 1366-1371, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30080950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30080950</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30080950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.23606" 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 : 03/15/2019
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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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Bao Lige - updated : 03/01/2019<br>Marla J. F. O'Neill - updated : 4/5/2010<br>Marla J. F. O'Neill - updated : 10/15/2009
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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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Alan F. Scott : 10/5/1995
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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 : 12/28/2020
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 03/15/2019<br>carol : 03/12/2019<br>mgross : 03/04/2019<br>mgross : 03/01/2019<br>carol : 07/16/2015<br>mcolton : 7/2/2015<br>carol : 4/10/2015<br>carol : 3/9/2015<br>carol : 4/5/2010<br>wwang : 10/16/2009<br>terry : 10/15/2009<br>alopez : 10/2/2002<br>alopez : 10/2/2002<br>tkritzer : 9/30/2002<br>mark : 5/9/1996<br>terry : 5/2/1996<br>mark : 3/28/1996<br>mark : 10/17/1995
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="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> 600827
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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PHOSPHODIESTERASE 6C; PDE6C
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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>
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<span class="mim-font">
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PHOSPHODIESTERASE 6C, cGMP-SPECIFIC, CONE, ALPHA-PRIME<br />
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PDEA2
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PDE6C</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 10q23.33
|
|
|
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Genomic coordinates <span class="small">(GRCh38)</span> : 10:93,612,537-93,666,010 </span>
|
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</em>
|
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</strong>
|
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<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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10q23.33
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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|
Cone dystrophy 4
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
613093
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>In the retinal rods, phosphodiesterase (PDE) is composed of an 88-kD alpha subunit (180071), an 84-kD beta subunit (180072) and two 11-kD gamma subunits (180073), while in cones PDE occurs as a homodimer of two 94-kD alpha-prime subunits (PDE6C) that are associated with 3 smaller proteins of 11, 13, and 15 kD. The 11- and 13-kD proteins are similar to the rod gamma subunits, while the 15-kD delta subunit binds to both cone and rod PDE. Li et al. (1990) cloned the bovine cone photoreceptor cGMP phosphodiesterase alpha-prime subunit (which they called PDEA2) from a retinal cDNA library using a portion of the rod cGMP PDE alpha subunit as a probe. </p><p>Piriev et al. (1995) showed that the human PDEA2 gene encodes an 858-amino acid protein that is 93% identical to the bovine sequence. The protein contains 2 cGMP binding domains and a C-terminal catalytic domain. </p><p>Feshchenko et al. (1996) likewise reported the complete cDNA sequence. It was found to be 3,455 bp in length and to encode a polypeptide of 858 amino acids and a calculated molecular mass of 99,169 Da. The deduced amino acid sequence displayed high homology to the alpha, beta, and alpha-prime subunits of bovine, human, chicken, and mouse photoreceptor PDEs. </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Piriev et al. (1995) showed that the human PDEA2 gene consists of 22 exons spanning approximately 48 kb of genomic DNA. The intron-exon structure of human PDE6C is very similar to that of rod PDE6B (180072), suggesting a recent evolutionary history. </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
|
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|
<span class="mim-text-font">
|
|
<p>Piriev et al. (1995) mapped the PDE6C gene to 10q24 by fluorescence in situ hybridization. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>Thiadens et al. (2009) identified homozygous and compound heterozygous mutations in the PDE6C gene (600827.0001-600827.0006) in affected members of 4 families with early-onset cone photoreceptor disorders, ranging from early-onset cone dystrophy (COD4; 613093) to complete achromatopsia (ACHM5; see 613093). Electroretinogram (ERG) analysis in the 2 oldest mutation-positive patients at ages 47 and 51 years, respectively, showed absent cone responses but no abnormal rod responses, and normal rod responses were also observed in the 3 patients with complete achromatopsia. Thiadens et al. (2009) concluded that rod involvement does not appear to be a major consequence of PDE6C mutations, although they noted that some dysfunction of rods may still occur later in life. </p><p>In affected members of 2 families and 2 sporadic patients with achromatopsia-5, Chang et al. (2009) identified homozygosity or compound heterozygosity for mutations in the PDE6C gene (600827.0007-600827.0013, respectively). </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>In cpfl1 mice, which lack cone function and show rapid degeneration of cone photoreceptors, Chang et al. (2009) performed linkage analysis and identified a 0.7-cM interval containing the candidate gene Pde6c. Comparative cDNA analysis revealed the presence of a 116-bp insertion and a 1-bp deletion in the Pde6c gene of the mutant mice; both mutations were predicted to introduce premature termination codons. At 3 weeks of age, ERGs in cpfl1 mice showed normal dark-adapted responses, whereas light-adapted responses representing cone function were virtually absent. Retinal histology revealed grossly normal morphology and layering, but as early as 3 weeks of age there was vacuolization of a small subset of cells in the photoreceptor layer with subsequent rapid, progressive depletion of cone photoreceptors. In addition, Chang et al. (2009) observed swollen and pyknotic nuclei in the inner nuclear layer; loss of cones progressed such that only very few could be detected in retinal sections of 5-month-old cpfl1 mice. </p><p>Moshiri et al. (2019) reported 4 visually impaired rhesus macaques that showed signs of achromatopsia nearly identical to those of the human condition. All 4 monkeys were homozygous for an arg565-to-gln (R565Q) mutation in Pde6c that altered a conserved residue in the catalytic domain of the enzyme, specifically within the first metal-binding motif critical for hydrolysis of cyclic nucleotides. Both parents of the affected rhesus macaques were heterozygous for the mutation, and multiple unaffected sibs were heterozygous or did not have the mutation. In transfected HEK293T cells, Pde6c with the R565Q mutation showed normal localization but profoundly diminished enzymatic activity compared with wildtype. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>14 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 CONE DYSTROPHY 4</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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ACHROMATOPSIA 5, INCLUDED
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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PDE6C, ARG29TRP
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<br />
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SNP: rs121918537,
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gnomAD: rs121918537,
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ClinVar: RCV000009308, RCV000761206, RCV001389961
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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 />
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<p><strong><em>Cone Dystrophy 4</em></strong></p><p>
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In 2 brothers with early-onset cone dystrophy (COD4; 613093), Thiadens et al. (2009) identified homozygosity for an 85C-T transition in exon 1 of the PDE6C gene, resulting in an arg29-to-trp (R29W) substitution at a conserved residue just upstream from the first GAF domain. The mutation was not found in 180 ethnically matched controls. The brothers had severe color vision defects with a reduced cone response on ERG when first examined at ages 6 and 7 years, respectively; they also had photophobia and nystagmus, with progressive decline in their visual acuity during their teens. ERG examination at ages 51 and 47 years, respectively, revealed no cone responses, whereas rod responses were normal. </p><p><strong><em>Achromatopsia 5</em></strong></p><p>
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In a patient (patient 15) diagnosed with achromatopsia (ACHM5; see 613093), Weisschuh et al. (2018) identified compound heterozygosity for the R29W mutation (c.85C-T, NM_006204.3) and a c.836T-C transition in the PDE6C gene, resulting in an ile279-to-thr (I279T; 600827.0014) substitution in the GAF domain. </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 ACHROMATOPSIA 5</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PDE6C, TYR323ASN
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<br />
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SNP: rs121918538,
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ClinVar: RCV000009309
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a sister and brother with incomplete achromatopsia (ACHM5; see 613093), born of consanguineous parents, Thiadens et al. (2009) identified homozygosity for a 967T-A transversion in exon 6 of the PDE6C gene, resulting in a tyr323-to-asn (Y323N) substitution at a fully conserved residue within the second GAF domain. The parents were each heterozygous for the mutation, which was not found in 180 ethnically matched controls. Both sibs had nystagmus but no photophobia upon initial examination at ages 7 and 10, respectively, and initial visual acuities of 0.16 (20/100) in their best eyes declined to 0.10 (20/200) over the next decade. The brother showed significantly reduced but measurable cone responses on ERG examinations at ages 10 and 20 years, with normal rod parameters. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0003 ACHROMATOPSIA 5</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PDE6C, 2-BP DUP, 257AG
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<br />
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SNP: rs786200908,
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ClinVar: RCV000009310, RCV001851759
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a 4-year-old boy with complete achromatopsia (ACHM5; see 613093), Thiadens et al. (2009) identified compound heterozygosity for a 2-bp duplication (257dupAG) in exon 1 of the PDE6C gene, predicted to result in premature termination, and a 5-bp deletion in intron 20 (2367+1delGTAAG; 600827.0004) that removes the splice donor site and is predicted to result in use of an alternative splice site causing a frameshift and premature termination of the protein. The mutations were not found in 180 ethnically matched controls. At 4 years of age, the patient had a visual acuity of 0.10 (20/200) with severe photophobia and nystagmus; ERG revealed nonrecordable cone function, with completely normal rod function. </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 ACHROMATOPSIA 5</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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|
PDE6C, 5-BP DEL, 2367+1GTAAG
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|
<br />
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|
|
SNP: rs796051871,
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|
|
ClinVar: RCV000009311, RCV000658573, RCV002250457, RCV004814865
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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>For discussion of the 5-bp deletion in the PDE6C gene (2367+1delGTAAG) that was found in compound heterozygous state in a patient with complete achromatopsia (ACHM5; see 613093) by Thiadens et al. (2009), see 600827.0003. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 ACHROMATOPSIA 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PDE6C, MET455VAL
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|
|
<br />
|
|
|
|
SNP: rs121918539,
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|
|
ClinVar: RCV000009312
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|
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|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sisters who were clinically diagnosed with complete achromatopsia (ACHM5; see 613093), Thiadens et al. (2009) identified compound heterozygosity for a 1363A-G transition in exon 10 of the PDE6C gene, resulting in a met455-to-val (M455V) substitution at a conserved residue located just downstream of the GAF-B domain, and a 633G-C transversion in exon 2 (600827.0006), resulting in a functionally neutral missense change. The authors noted that the mutation was predicted to completely abolish the splice donor site, resulting loss of exon 2 or inclusion of intron 2. The unaffected parents were each heterozygous for 1 of the mutations, respectively; the mutations were not found in 180 ethnically matched controls. The sisters were first examined at ages 11 and 12 years, respectively, and had severe photophobia, nystagmus, and visual acuities of 0.16 (20/100) in their best eyes, which declined to 1.10 (20/200) over the next 2 decades. ERG examinations showed no cone responses even in childhood, but normal rod responses were observed at ages 36 and 37 years, respectively. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 ACHROMATOPSIA 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PDE6C, EXON 2, 633G-C
|
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|
|
<br />
|
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|
|
SNP: rs387906401,
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|
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|
|
|
|
|
ClinVar: RCV000009313
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 633G-C transversion in exon 2 of the PDE6C gene that was found in compound heterozygous state in 2 sisters with complete achromatopsia (ACHM5; see 613093) by Thiadens et al. (2009), see 600827.0005. </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 ACHROMATOPSIA 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PDE6C, IVS1AS, T-A, -12
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786200909,
|
|
|
|
|
|
|
|
ClinVar: RCV000009315
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sisters with achromatopsia-5 (ACHM5; see 613093), Chang et al. (2009) identified compound heterozygosity for a 481-12T-A transversion in intron 1 and a 1483-2A-G transition in intron 11 (600827.0008) of the PDE6C gene. Their unaffected mother was heterozygous for the 481-12T-A mutation, which was not found in 100 controls, and their unaffected father and an unaffected brother were heterozygous for the 1483-2A-G mutation. Transient expression studies in COS-7 cells showed that the 481-12T-A mutation activates a cryptic splice site 10 nucleotides upstream of the genuine 3-prime splice acceptor site, resulting in a frameshift and insertion of a premature termination codon, whereas the 1483-2A-G mutation causes a complete loss of exon 12, predicting an in-frame deletion of 49 amino acid residues. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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<div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 ACHROMATOPSIA 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PDE6C, IVS11AS, A-G, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786200910,
|
|
|
|
|
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|
|
ClinVar: RCV000009316
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1483-2A-G transition in intron 11 of the PDE6C gene that was found in compound heterozygous state in 2 sisters with achromatopsia-5 (ACHM5; see 613093) by Chang et al. (2009), see 600827.0007. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 ACHROMATOPSIA 5</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
PDE6C, HIS602LEU
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|
|
<br />
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|
|
SNP: rs267606934,
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|
|
gnomAD: rs267606934,
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|
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ClinVar: RCV000009317
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</span>
|
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</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 brothers with achromatopsia-5 (ACHM5; see 613093), Chang et al. (2009) identified compound heterozygosity for a 1805A-T transversion and a 2368G-A transition in the PDE6C gene, resulting in a his602-to-leu (H602L) and a glu790-to-lys (E790K; 600827.0010) substitution, respectively. Their unaffected mother was heterozygous for H602L, whereas their unaffected father and an unaffected sister were heterozygous for E790K; neither mutation was found in 100 controls. Transient expression studies in COS-7 cells showed that the 2368G-A mutation induced a partial skipping of exon 21 that predicts a frameshift mutation, but approximately 60% of transcripts were correctly spliced and harbored the E790K substitution. Analysis of cGMP hydrolysis activity in Sf9 insect cells expressing 'humanized' PDE5/PDE6 constructs containing the mutations revealed only baseline activity for H602L that was not significantly different from the untransfected control, whereas the E790K mutant had considerable residual activity that reached approximately 40% of wildtype. </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>.0010 ACHROMATOPSIA 5</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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PDE6C, GLU790LYS
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<br />
|
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|
|
SNP: rs267606936,
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|
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ClinVar: RCV000009314
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|
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|
|
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</span>
|
|
</div>
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|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the glu790-to-lys (E790K) mutation in the PDE6C gene that was found in compound heterozygous state in 2 brothers with achromatopsia-5 (ACHM5; see 613093) by Chang et al. (2009), see 600827.0009. </p>
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|
</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>.0011 ACHROMATOPSIA 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
|
|
PDE6C, ARG276TER
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<br />
|
|
|
|
SNP: rs267606937,
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|
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gnomAD: rs267606937,
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|
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ClinVar: RCV000009318
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|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male patient with achromatopsia-5 (ACHM5; see 613093), Chang et al. (2009) identified compound heterozygosity for an 826C-T transition and a 2457T-A transversion in the PDE6C gene, resulting in an arg276-to-ter (R276X) and a tyr819-to-ter (Y819X; 600827.0012) substitution, respectively. The mutations were found in heterozygosity in the unaffected parents, respectively. </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>
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<span class="mim-font">
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<strong>.0012 ACHROMATOPSIA 5</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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PDE6C, TYR819TER
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<br />
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SNP: rs267606935,
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ClinVar: RCV000009319
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</span>
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<span class="mim-text-font">
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<p>For discussion of the tyr819-to-ter (Y819X) mutation in the PDE6C gene that was found in compound heterozygous state in a patient with achromatopsia-5 (ACHM5; see 613093) by Chang et al. (2009), see 600827.0011. </p>
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</span>
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</div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>.0013 ACHROMATOPSIA 5</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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PDE6C, 1-BP INS, 1682A
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<br />
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SNP: rs786200911,
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ClinVar: RCV000009320
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a male patient with achromatopsia-5 (ACHM5; see 613093), Chang et al. (2009) identified homozygosity for a 1-bp insertion (1682_1683insA) in the PDE6C gene, predicted to cause a frameshift resulting in a premature termination codon at residue 561. His unaffected parents and sister were 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>.0014 ACHROMATOPSIA 5</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PDE6C, ILE279THR
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<br />
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SNP: rs762152984,
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gnomAD: rs762152984,
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ClinVar: RCV000664197, RCV000761207, RCV002529035
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the c.836T-C transition (c.836T-C, NM_006204.3) in the PDE6C gene, resulting in an ile279-to-thr (I279T) substitution, that was found in compound heterozygous state in a patient with achromatopsia (ACHM5; see 613093) by Weisschuh et al. (2018), see 600827.0001. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B.
|
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<strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong>
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Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.
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[PubMed: 19887631]
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[Full Text: https://doi.org/10.1073/pnas.0907720106]
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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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Feshchenko, E. A., Andreeva, S. G., Suslova, V. A., Smirnova, E. V., Zagranichny, V. E., Lipkin, V. M.
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<strong>Human cone-specific cGMP phosphodiesterase alpha-prime subunit: complete cDNA sequence and gene arrangement.</strong>
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FEBS Lett. 381: 149-152, 1996.
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[PubMed: 8641425]
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[Full Text: https://doi.org/10.1016/0014-5793(96)00104-4]
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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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Li, T., Volpp, K., Applebury, M. L.
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<strong>Bovine cone photoreceptor cGMP phosphodiesterase structure deduced from a cDNA clone.</strong>
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Proc. Nat. Acad. Sci. 87: 293-297, 1990.
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[PubMed: 2153291]
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[Full Text: https://doi.org/10.1073/pnas.87.1.293]
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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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Moshiri, A., Chen, R., Kim, S., Harris, R. A., Li, Y., Raveendran, M., Davis, S., Liang, Q., Pomerantz, O., Wang, J., Garzel, L., Cameron, A., and 10 others.
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|
<strong>A nonhuman primate model of inherited retinal disease.</strong>
|
|
J. Clin. Invest. 129: 863-874, 2019.
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[PubMed: 30667376]
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[Full Text: https://doi.org/10.1172/JCI123980]
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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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Piriev, N. I., Viczian, A. S., Ye, J., Kerner, B., Korenberg, J. R., Farber, D. B.
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<strong>Gene structure and amino acid sequence of the human cone photoreceptor cGMP-phosphodiesterase alpha-prime subunit (PDEA2) and its chromosomal localization to 10q24.</strong>
|
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Genomics 28: 429-435, 1995.
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[PubMed: 7490077]
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[Full Text: https://doi.org/10.1006/geno.1995.1171]
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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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Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W.
|
|
<strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong>
|
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Am. J. Hum. Genet. 85: 240-247, 2009.
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[PubMed: 19615668]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.06.016]
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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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Weisschuh, N., Stingl, K., Audo, I., Biskup, S., Bocquet, B., Branham, K., Burstedt, M. S., De Baere, E., De Vries, M. J., Golovleva, I., Green, A., Heckenlively, J., Leroy, B. P., Meunier, I., Traboulsi, E., Wissinger, B., Kohl, S.
|
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<strong>Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.</strong>
|
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Hum. Mutat. 39: 1366-1371, 2018.
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[PubMed: 30080950]
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[Full Text: https://doi.org/10.1002/humu.23606]
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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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Contributors:
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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 : 03/15/2019<br>Bao Lige - updated : 03/01/2019<br>Marla J. F. O'Neill - updated : 4/5/2010<br>Marla J. F. O'Neill - updated : 10/15/2009
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Creation Date:
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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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Alan F. Scott : 10/5/1995
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carol : 12/28/2020<br>alopez : 03/15/2019<br>carol : 03/12/2019<br>mgross : 03/04/2019<br>mgross : 03/01/2019<br>carol : 07/16/2015<br>mcolton : 7/2/2015<br>carol : 4/10/2015<br>carol : 3/9/2015<br>carol : 4/5/2010<br>wwang : 10/16/2009<br>terry : 10/15/2009<br>alopez : 10/2/2002<br>alopez : 10/2/2002<br>tkritzer : 9/30/2002<br>mark : 5/9/1996<br>terry : 5/2/1996<br>mark : 3/28/1996<br>mark : 10/17/1995
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