3965 lines
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Entry
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- *600053 - CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3
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- OMIM
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<p>
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<span class="h4">*600053</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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<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="#biochemicalFeatures">Biochemical Features</a>
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<a href="#geneFamily">Gene Family</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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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600053">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>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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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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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000144191;t=ENST00000272602" 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=1261" 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=600053" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000144191;t=ENST00000272602" 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_001079878,NM_001298,XM_006712243,XM_011510554,XM_047443222" 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_001298" 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=600053" 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=02504&isoform_id=02504_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/CNGA3" 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/3153887,4261908,4502917,13959682,47077078,62988794,64654461,64654590,64654857,119622316,120433600,578803607,697350607,767916526,2217325426,2462569886,2462569888,2462569890" 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/Q16281" 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=1261" 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=ENSG00000144191;t=ENST00000272602" 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=CNGA3" 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=CNGA3" 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+1261" 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/CNGA3" 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:1261" 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/1261" 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=chr2&hgg_gene=ENST00000272602.7&hgg_start=98346456&hgg_end=98398601&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:2150" 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/cnga3" 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=600053[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=600053[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/ENSG00000144191" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=CNGA3" 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=CNGA3" 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="http://www.retina-international.org/files/sci-news/cnga3mut.htm" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CNGA3&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/PA26660" 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:2150" 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/FBgn0261612.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:1341818" 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/CNGA3#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:1341818" 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/1261/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/OMIA001481/" 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=1261" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000487;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000487 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00006526;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00006526 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00022295;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00022295 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-090312-121" 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:1261" 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=CNGA3&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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600053
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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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CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3
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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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CONE PHOTORECEPTOR cGMP-GATED CHANNEL<br />
|
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CYCLIC NUCLEOTIDE-GATED CHANNEL, OLFACTORY, 3; CNG3
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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=CNGA3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CNGA3</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/2/494?start=-3&limit=10&highlight=494">2q11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:98346456-98398601&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'})">2:98,346,456-98,398,601</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/2/494?start=-3&limit=10&highlight=494">
|
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2q11.2
|
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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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Achromatopsia 2
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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/216900"> 216900 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/600053" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600053" 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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<p>Cyclic nucleotide-gated (CNG) cation channels are essential in visual and olfactory signal transduction. These proteins, CNG1 (<a href="/entry/123825">123825</a>) and CNG2 (<a href="/entry/300338">300338</a>), are encoded by 2 different genes. The CNG1 channel is activated at 40-fold higher cGMP concentrations than the CNG2 channel. <a href="#1" class="mim-tip-reference" title="Biel, M., Zong, X., Distler, M., Bosse, E., Klugbauer, N., Murakami, M., Flockerzi, V., Hofmann, F. <strong>Another member of the cyclic nucleotide-gated channel family, expressed in testis, kidney, and heart.</strong> Proc. Nat. Acad. Sci. 91: 3505-3509, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8170936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8170936</a>] [<a href="https://doi.org/10.1073/pnas.91.9.3505" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8170936">Biel et al. (1994)</a> cloned an additional member of the cGMP-gated channel family, termed CNG3, from bovine kidney. Its deduced amino acid sequence was found to be 60% and 62% identical with the CNG-channel proteins from bovine rod outer segment and bovine olfactory epithelium, respectively. Northern analysis and RT-PCR showed that the CNG3 mRNA is present in testis, kidney, and heart. <a href="#1" class="mim-tip-reference" title="Biel, M., Zong, X., Distler, M., Bosse, E., Klugbauer, N., Murakami, M., Flockerzi, V., Hofmann, F. <strong>Another member of the cyclic nucleotide-gated channel family, expressed in testis, kidney, and heart.</strong> Proc. Nat. Acad. Sci. 91: 3505-3509, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8170936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8170936</a>] [<a href="https://doi.org/10.1073/pnas.91.9.3505" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8170936">Biel et al. (1994)</a> suggested that chemotaxis of sperm cells may be controlled during fertilization by a mechanism similar to olfactory signal transduction because testis expresses members of the olfactory-receptor gene family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8170936" 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 complete achromatopsia, cone photoreceptors, the retinal sensory neurons mediating color vision, seem viable but fail to generate an electrical response to light. The CNGA3 gene encodes one of a family of alpha subunits that form CNG ion channels required for sensory transduction in rod photoreceptors and in olfactory neurons. The CNG3 channel consists of CNGA3 and CNGB3 (<a href="/entry/605080">605080</a>) in a heterotetrameric structure of 2 alpha and 2 beta subunits (<a href="#7" class="mim-tip-reference" title="Sundin, O. H., Yang, J. M., Li, Y., Zhu, D., Hurd, J. N., Mitchell, T. N., Silva, E. D., Maumenee, I. H. <strong>Genetic basis of total colourblindness among the Pingelapese islanders.</strong> Nature Genet. 25: 289-293, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10888875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10888875</a>] [<a href="https://doi.org/10.1038/77162" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10888875">Sundin et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888875" 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="#14" class="mim-tip-reference" title="Zhong, H., Molday, L. L., Molday, R. S., Yau, K.-W. <strong>The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry.</strong> Nature 420: 193-198, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12432397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12432397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12432397[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature01201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12432397">Zhong et al. (2002)</a> reported the identification of a leucine zipper homology domain named CLZ (carboxy-terminal leucine zipper) that is present in the distal C terminus of CNG channel A subunits but is absent from B subunits and mediates an inter-subunit interaction. With crosslinking, nondenaturing gel electrophoresis, and analytical centrifugation, this CLZ domain was found to mediate a trimeric interaction. In addition, a mutant cone CNG channel A subunit with its CLZ domain replaced by a generic trimeric leucine zipper produced channels that behaved much like the wildtype, but less so if replaced by a dimeric or tetrameric leucine zipper. This A-subunit-only, trimeric interaction suggested that heteromeric CNG channels actually adopt a 3A:1B stoichiometry. Biochemical analysis of the purified bovine rod CNG channel confirmed this conclusion. <a href="#14" class="mim-tip-reference" title="Zhong, H., Molday, L. L., Molday, R. S., Yau, K.-W. <strong>The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry.</strong> Nature 420: 193-198, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12432397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12432397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12432397[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature01201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12432397">Zhong et al. (2002)</a> concluded that this revised stoichiometry provides a new foundation for understanding the structure and function of the CNG channel family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12432397" 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="#12" class="mim-tip-reference" title="Yau, K.-W. <strong>Cyclic nucleotide-gated channels: an expanding new family of ion channels.</strong> Proc. Nat. Acad. Sci. 91: 3481-3483, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7513422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7513422</a>] [<a href="https://doi.org/10.1073/pnas.91.9.3481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7513422">Yau (1994)</a> reviewed the expanding family of cyclic nucleotide-gated channels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7513422" 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="#10" class="mim-tip-reference" title="Wissinger, B., Jagle, H., Kohl, S., Broghammer, M., Baumann, B., Hanna, D. B., Hedels, C., Apfelstedt-Sylla, E., Randazzo, G., Jacobson, S. G., Zrenner, E., Sharpe, L. T. <strong>Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.</strong> Genomics 51: 325-331, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9721202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9721202</a>] [<a href="https://doi.org/10.1006/geno.1998.5390" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9721202">Wissinger et al. (1998)</a> performed linkage analysis in 8 families with total colorblindness, also known as rod monochromacy or achromatopsia, an autosomal recessively inherited condition. Linkage was found with markers located at the pericentromeric region of chromosome 2. Further homozygosity mapping refined the locus to an interval of approximately 3 cM covering the locus, which they designated ACHM2. Radiation hybrid mapping of the CNGA3 gene resulted in a maximum lod score of 16.1 with marker D2S2311, which had been shown to be closely situated to the ACHM2 locus. The findings indicated that the CNGA3 gene mapped within the critical interval of the ACHM2 locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9721202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S. G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L. T., Wissinger, B. <strong>Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.</strong> Nature Genet. 19: 257-259, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662398</a>] [<a href="https://doi.org/10.1038/935" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662398">Kohl et al. (1998)</a> screened the CNGA3 gene in patients from 5 families with rod monochromacy (ACHM2; <a href="/entry/216900">216900</a>) linked to 2q11. In one family, affected members were homozygous for a pro163-to-leu missense mutation (P163L; <a href="#0001">600053.0001</a>). In a second family, homozygosity for an arg283-to-trp missense mutation was found (R283W; <a href="#0002">600053.0002</a>). Compound heterozygosity was found in other patients. Notably, 7 of the 8 mutations identified by <a href="#4" class="mim-tip-reference" title="Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S. G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L. T., Wissinger, B. <strong>Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.</strong> Nature Genet. 19: 257-259, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662398</a>] [<a href="https://doi.org/10.1038/935" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662398">Kohl et al. (1998)</a> were in exon 7; the exceptional mutation, P163L, was located in exon 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Wissinger, B., Gamer, D., Jagle, H., Giorda, R., Marx, T., Mayer, S., Tippmann, S., Broghammer, M., Jurklies, B., Rosenberg, T., Jacobson, S. G., Sener, E. C., and 17 others. <strong>CNGA3 mutations in hereditary cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 69: 722-737, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11536077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11536077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11536077[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/323613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11536077">Wissinger et al. (2001)</a> screened for CNGA3 mutations in 258 independent families with hereditary cone photoreceptor disorders and found CNGA3 mutations not only in patients with the complete form of achromatopsia, but also in patients with incomplete achromatopsia and even in a few patients diagnosed with severe progressive cone dystrophy. Mutations were identified in 53 families and included 8 previously described mutations and 38 novel mutations. These mutations comprised 39 amino acid substitutions, 4 stop-codon mutations, two 1-bp insertions, and one 3-bp in-frame deletion. Most of the amino acid substitutions affected residues conserved in the CNG channel family and were clustered at the cytoplasmic face of transmembrane domains (TM) S1 and S2, in TM S4, and in the cGMP-binding domain. Four mutations, arg277 to cys (R277C; <a href="#0009">600053.0009</a>), arg283 to trp (R283W; <a href="#0002">600053.0002</a>), arg436 to trp (R435W; <a href="#0010">600053.0010</a>), and phe547 to leu (F547L; <a href="#0006">600053.0006</a>), accounted for 41.8% of all the detected mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11536077" 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="#11" class="mim-tip-reference" title="Wiszniewski, W., Lewis, R. A., Lupski, J. R. <strong>Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of a uniparental disomy 14.</strong> Hum. Genet. 121: 433-439, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17265047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17265047</a>] [<a href="https://doi.org/10.1007/s00439-006-0314-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17265047">Wiszniewski et al. (2007)</a> analyzed the CNGA3, CNGB3, and GNAT2 (<a href="/entry/139340">139340</a>) genes in 16 unrelated patients with autosomal recessive ACHM: 10 patients had mutations in CNGB3, 3 had mutations in CNGA3, and no coding region mutations were found in 3 patients. The authors concluded that CNGA3 and CNGB3 mutations are responsible for the substantial majority of achromatopsia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17265047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of 15 Chinese patients from 10 unrelated families with ACHM, <a href="#5" class="mim-tip-reference" title="Liang, X., Dong, F., Li, H., Li, H., Yang, L., Sui, R. <strong>Novel CNGA3 mutations in Chinese patients with achromatopsia.</strong> Brit. J. Ophthal. 99: 571-576, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25637600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25637600</a>] [<a href="https://doi.org/10.1136/bjophthalmol-2014-305432" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25637600">Liang et al. (2015)</a> identified CNGA3 mutations in 13 patients from 8 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25637600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a man of Senegalese ancestry who had achromatopsia as well as features of retinitis pigmentosa (see RP93, <a href="/entry/619845">619845</a>), <a href="#6" class="mim-tip-reference" title="Mejecase, C., Hummel, A., Mohand-Said, S., Andrieu, C., El Shamieh, S., Antonio, A., Condroyer, C., Boyard, F., Foussard, M., Blanchard, S., Letexier, M., Saraiva,, J.-P., Sahel, J.-A., Zeitz, C., Audo, I. <strong>Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.</strong> Clin. Genet. 95: 329-333, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30267408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30267408</a>] [<a href="https://doi.org/10.1111/cge.13453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30267408">Mejecase et al. (2019)</a> identified homozygosity for a 2-bp deletion in the CNGA3 gene (<a href="#0011">600053.0011</a>). The proband's 2 older brothers exhibited nonsyndromic RP, and all 3 brothers were compound heterozygous for mutations in the CC2D2A gene (<a href="/entry/612013#0010">612013.0010</a>-<a href="/entry/612013#0011">612013.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30267408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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In a female patient from a consanguineous Saudi Arabian family who had been diagnosed with Leber congenital amaurosis (LCA; see <a href="/entry/204000">204000</a>), <a href="#8" class="mim-tip-reference" title="Wang, X., Wang, H., Cao, M., Li, Z., Chen, X., Patenia, C., Gore, A., Abboud, E. B., Al-Rajhi, A. A., Lewis, R. A., Lupski, J. R., Mardon, G., Zhang, K., Muzny, D., Gibbs, R. A., Chen, R. <strong>Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.</strong> Hum. Mutat. 32: 1450-1459, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21901789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21901789</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21901789[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.21587" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21901789">Wang et al. (2011)</a> identified homozygosity for a missense mutation in the CNGA3 gene (1579G-C; L527M) that segregated with disease in the family. The mutation, located at a conserved residue in the cGMP-binding domain, was not found in 200 controls or in the dbSNP (build 130) or 1000 Genomes Project databases. The female patient had nystagmus noted shortly after birth, and electroretinogram was nonrecordable at 10 months of age. At 2 years of age she was noted to have very sluggish pupils and no visual responses were elicited. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21901789" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Hattar, S., Lucas, R. J., Mrosovsky, N., Thompson, S., Douglas, R. H., Hankins, M. W., Lem, J., Biel, M., Hofmann, F., Foster, R. G., Yau, K.-W. <strong>Melanopsin and rod-cone photoreceptive systems account for all major accessory visual functions in mice.</strong> Nature 424: 76-81, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12808468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12808468</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12808468[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature01761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12808468">Hattar et al. (2003)</a> investigated whether photoreceptor systems besides rod-cone and melanopsin participate in pupillary reflex, light-induced phase delays of the circadian clock, and period lengthening of the circadian rhythm in constant light. Using mice lacking rods and cones, <a href="#3" class="mim-tip-reference" title="Hattar, S., Lucas, R. J., Mrosovsky, N., Thompson, S., Douglas, R. H., Hankins, M. W., Lem, J., Biel, M., Hofmann, F., Foster, R. G., Yau, K.-W. <strong>Melanopsin and rod-cone photoreceptive systems account for all major accessory visual functions in mice.</strong> Nature 424: 76-81, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12808468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12808468</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12808468[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature01761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12808468">Hattar et al. (2003)</a> measured the action spectrum for phase-shifting the circadian rhythm of locomotor behavior. This spectrum matched that for the pupillary light reflex in mice of the same genotype, and that for the intrinsic photosensitivity of the melanopsin-expressing retinal ganglion cells. <a href="#3" class="mim-tip-reference" title="Hattar, S., Lucas, R. J., Mrosovsky, N., Thompson, S., Douglas, R. H., Hankins, M. W., Lem, J., Biel, M., Hofmann, F., Foster, R. G., Yau, K.-W. <strong>Melanopsin and rod-cone photoreceptive systems account for all major accessory visual functions in mice.</strong> Nature 424: 76-81, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12808468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12808468</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12808468[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature01761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12808468">Hattar et al. (2003)</a> also generated triple-knockout mice (for Gnat, <a href="/entry/139330">139330</a>, Cnga3, and Opn4, <a href="/entry/606665">606665</a>) in which the rod-cone and melanopsin systems were both silenced. These animals had an intact retina but failed to show any significant pupil reflex, to entrain to light/dark cycles, and to show any masking response to light. Thus, <a href="#3" class="mim-tip-reference" title="Hattar, S., Lucas, R. J., Mrosovsky, N., Thompson, S., Douglas, R. H., Hankins, M. W., Lem, J., Biel, M., Hofmann, F., Foster, R. G., Yau, K.-W. <strong>Melanopsin and rod-cone photoreceptive systems account for all major accessory visual functions in mice.</strong> Nature 424: 76-81, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12808468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12808468</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12808468[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature01761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12808468">Hattar et al. (2003)</a> concluded that the rod-cone and melanopsin systems together seem to provide all of the photic input for these accessory visual functions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12808468" 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="Ding, X.-Q., Harry, C. S., Umino, Y., Matveev, A. V., Fliesler, S. J., Barlow, R. B. <strong>Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.</strong> Hum. Molec. Genet. 18: 4770-4780, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19767295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19767295</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19767295[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19767295">Ding et al. (2009)</a> observed that Cnga3 protein and mRNA levels were significantly decreased in Cngb3 -/- mice; in contrast, mRNA levels of S-opsin (CBD; <a href="/entry/303800">303800</a>), Gnat2, and Pde6c (<a href="/entry/600827">600827</a>) were unchanged relative to wildtype mice. The authors concluded that loss of CNGB3 reduces biosynthesis of CNGA3 and impairs cone CNG channel function. They suggested that downregulation of CNGA3 may contribute to the pathogenic mechanism by which CNGB3 mutations lead to human cone disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19767295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S. G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L. T., Wissinger, B. <strong>Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.</strong> Nature Genet. 19: 257-259, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662398</a>] [<a href="https://doi.org/10.1038/935" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662398">Kohl et al. (1998)</a> found that affected members in a family with rod monochromacy (ACHM2; <a href="/entry/216900">216900</a>) were homozygous for a C-to-T transition at nucleotide 528 of the CNGA3 gene, resulting in a pro163-to-leu (P163L) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662398" 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> rs104893613 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893613;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/rs104893613?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=rs104893613" 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=rs104893613" 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=RCV000010082 OR RCV000415133 OR RCV001222182 OR RCV004794328" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010082, RCV000415133, RCV001222182, RCV004794328" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010082...</a>
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<p>In affected members of a family with rod monochromacy (ACHM2; <a href="/entry/216900">216900</a>), <a href="#4" class="mim-tip-reference" title="Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S. G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L. T., Wissinger, B. <strong>Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.</strong> Nature Genet. 19: 257-259, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662398</a>] [<a href="https://doi.org/10.1038/935" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662398">Kohl et al. (1998)</a> found homozygosity for a C-to-T transition at nucleotide 887 of the CNGA3 gene, resulting in an arg283-to-trp (R283W) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Wissinger, B., Gamer, D., Jagle, H., Giorda, R., Marx, T., Mayer, S., Tippmann, S., Broghammer, M., Jurklies, B., Rosenberg, T., Jacobson, S. G., Sener, E. C., and 17 others. <strong>CNGA3 mutations in hereditary cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 69: 722-737, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11536077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11536077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11536077[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/323613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11536077">Wissinger et al. (2001)</a> found the R283W mutation in 19 of 110 mutant alleles, including 14 alleles in 7 homozygous patients. Haplotype analysis suggested that these alleles, which were particularly frequent among patients from Scandinavia and northern Italy, have a common origin. Some of the patients homozygous for this mutation had complete achromatopsia with no detectable cone function, whereas others had incomplete achromatopsia with residual cone ERG responses and/or color vision. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11536077" 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> rs104893614 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893614;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/rs104893614?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=rs104893614" 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=rs104893614" 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=RCV000010083 OR RCV001002963 OR RCV001050960 OR RCV001075581" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010083, RCV001002963, RCV001050960, RCV001075581" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010083...</a>
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<p><a href="#4" class="mim-tip-reference" title="Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S. G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L. T., Wissinger, B. <strong>Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.</strong> Nature Genet. 19: 257-259, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662398</a>] [<a href="https://doi.org/10.1038/935" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662398">Kohl et al. (1998)</a> found that a single patient with rod monochromacy (ACHM2; <a href="/entry/216900">216900</a>) was a compound heterozygote. One mutation was arg283 to gln (R283Q), involving the same codon as the arg283-to-trp mutation (<a href="#0002">600053.0002</a>). The nucleotide change was G to A at nucleotide 888. The second allele, of maternal origin, carried a G-to-A mutation at nucleotide 1709, resulting in a gly557-to-arg (G557R) substitution (<a href="#0004">600053.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662398" 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> rs104893615 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893615;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/rs104893615?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=rs104893615" 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=rs104893615" 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=RCV000010084 OR RCV000169654 OR RCV001002972 OR RCV001074603 OR RCV001219847 OR RCV002512958" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010084, RCV000169654, RCV001002972, RCV001074603, RCV001219847, RCV002512958" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010084...</a>
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<p>For discussion of the gly557-to-arg (G557R) mutation in the CNGA3 gene that was found in compound heterozygous state in a patient with achromatopsia-2 by <a href="#4" class="mim-tip-reference" title="Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S. G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L. T., Wissinger, B. <strong>Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.</strong> Nature Genet. 19: 257-259, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662398</a>] [<a href="https://doi.org/10.1038/935" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662398">Kohl et al. (1998)</a>, see <a href="#0003">600053.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<strong>.0005 ACHROMATOPSIA 2</strong>
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CNGA3, THR291ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104893616 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893616;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=rs104893616" 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=rs104893616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010085 OR RCV001075211" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010085, RCV001075211" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010085...</a>
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<p><a href="#4" class="mim-tip-reference" title="Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S. G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L. T., Wissinger, B. <strong>Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.</strong> Nature Genet. 19: 257-259, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662398</a>] [<a href="https://doi.org/10.1038/935" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662398">Kohl et al. (1998)</a> found compound heterozygosity of mutations in the CNGA3 gene as the basis of rod monochromacy (ACHM2; <a href="/entry/216900">216900</a>) in one family: thr291 to arg (T291R) and phe547 to leu (F547L; <a href="#0006">600053.0006</a>), where the 2 allelic mutations were caused by a C-to-G transversion at nucleotide 912 and C-to-A transversion at nucleotide 1681, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 ACHROMATOPSIA 2</strong>
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</h4>
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<div style="float: left;">
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CNGA3, PHE547LEU
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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> rs104893617 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893617;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/rs104893617?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=rs104893617" 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=rs104893617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010086 OR RCV000415000 OR RCV001002970 OR RCV001055558 OR RCV001074686" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010086, RCV000415000, RCV001002970, RCV001055558, RCV001074686" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010086...</a>
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<span class="mim-text-font">
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<p>For discussion of the phe547-to-leu (F547L) mutation in the CNGA3 gene that was found in compound heterozygous state in patients with achromatopsia-2 by <a href="#4" class="mim-tip-reference" title="Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S. G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L. T., Wissinger, B. <strong>Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.</strong> Nature Genet. 19: 257-259, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662398</a>] [<a href="https://doi.org/10.1038/935" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662398">Kohl et al. (1998)</a>, see <a href="#0005">600053.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Wissinger, B., Gamer, D., Jagle, H., Giorda, R., Marx, T., Mayer, S., Tippmann, S., Broghammer, M., Jurklies, B., Rosenberg, T., Jacobson, S. G., Sener, E. C., and 17 others. <strong>CNGA3 mutations in hereditary cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 69: 722-737, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11536077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11536077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11536077[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/323613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11536077">Wissinger et al. (2001)</a> found the F547L mutation in 12 of 110 mutant alleles from patients from German, Dutch, Italian, Turkish, and Pakistani families. Haplotype analysis suggested multiple origins of the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11536077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<strong>.0007 ACHROMATOPSIA 2</strong>
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CNGA3, ARG411TRP
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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> rs137852608 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852608;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/rs137852608?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=rs137852608" 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=rs137852608" 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=RCV000010087 OR RCV001052998 OR RCV001075289" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010087, RCV001052998, RCV001075289" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010087...</a>
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<p><a href="#4" class="mim-tip-reference" title="Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S. G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L. T., Wissinger, B. <strong>Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.</strong> Nature Genet. 19: 257-259, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662398</a>] [<a href="https://doi.org/10.1038/935" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662398">Kohl et al. (1998)</a> found compound heterozygosity for mutations in the CNGA3 gene in a sibship with 2 affected individuals with rod monochromacy (ACHM2; <a href="/entry/216900">216900</a>). A C-to-T transition at nucleotide 1268 caused a substitution of tryptophan for arginine at codon 411. The second pathologic change was val529 to met (<a href="#0008">600053.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<strong>.0008 ACHROMATOPSIA 2</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> rs104893619 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893619;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/rs104893619?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=rs104893619" 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=rs104893619" 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=RCV000010088 OR RCV000352391 OR RCV001002968 OR RCV004754254 OR RCV004814870" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010088, RCV000352391, RCV001002968, RCV004754254, RCV004814870" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010088...</a>
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<p>In 2 sibs with rod monochromacy (ACHM2; <a href="/entry/216900">216900</a>), <a href="#4" class="mim-tip-reference" title="Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S. G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L. T., Wissinger, B. <strong>Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.</strong> Nature Genet. 19: 257-259, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662398</a>] [<a href="https://doi.org/10.1038/935" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662398">Kohl et al. (1998)</a> identified compound heterozygosity at the CNGA locus: one allele carried the arg411-to-trp mutation (<a href="#0007">600053.0007</a>); the other allele carried 2 changes, thr153 to met and val529 to met (V529M), of which the V529M appeared to be the pathologic change. The V529M mutation was said to be caused by a G-to-A transition at nucleotide 1625. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662398" 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="#13" class="mim-tip-reference" title="Zelinger, L., Greenberg, A., Kohl, S., Banin, E., Sharon, D. <strong>An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews.</strong> Hum. Genet. 128: 261-267, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20549516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20549516</a>] [<a href="https://doi.org/10.1007/s00439-010-0846-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20549516">Zelinger et al. (2010)</a> performed mutation analysis of more than 700 families from the Israeli and Palestinian populations with inherited retinal diseases and identified the V529M mutation, caused by a 1585G-A transition, in 10 of 30 families with achromatopsia, including 6 Arab Muslim families and 4 Oriental Jewish families. Mutation carrier frequencies were estimated at 0.8% and 1%, respectively. In addition, V529M was identified in 3 previously unreported Christian European families. The European patients were all compound heterozygous for V529M and another CNGA3 mutation, whereas most of the Arab Muslim and Jewish patients were homozygous for V529M. Haplotype analysis of mutation-bearing chromosomes from Middle Eastern and European patients revealed a shared Muslim-Jewish haplotype, which was different from the haplotypes detected in European patients, indicating a recurrent mutation stratified by a Jewish-Muslim founder effect. Microsatellite analysis of a 21.5-cM interval including CNGA3 and the adjacent chromosome 2 centromere revealed a unique and extremely rare haplotype associated with the V529M mutation. The shared mutation was calculated to have arisen about 200 generations earlier, in an ancient common ancestor who lived approximately 5,000 years ago. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20549516" 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 2</strong>
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CNGA3, ARG277CYS
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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> rs104893620 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893620;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/rs104893620?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=rs104893620" 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=rs104893620" 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=RCV000010089 OR RCV000596449 OR RCV000626801 OR RCV001092740 OR RCV004814871 OR RCV004814872" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010089, RCV000596449, RCV000626801, RCV001092740, RCV004814871, RCV004814872" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010089...</a>
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<p>In patients with rod monochromacy (ACHM2; <a href="/entry/216900">216900</a>), <a href="#9" class="mim-tip-reference" title="Wissinger, B., Gamer, D., Jagle, H., Giorda, R., Marx, T., Mayer, S., Tippmann, S., Broghammer, M., Jurklies, B., Rosenberg, T., Jacobson, S. G., Sener, E. C., and 17 others. <strong>CNGA3 mutations in hereditary cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 69: 722-737, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11536077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11536077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11536077[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/323613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11536077">Wissinger et al. (2001)</a> identified a C-to-T transition at nucleotide 829 of the CNGA3 gene, resulting in an arg277-to-cys (R277C) substitution; the mutation was found in 9 of 110 mutant alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11536077" 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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CNGA3, ARG436TRP
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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> rs104893621 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893621;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/rs104893621?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=rs104893621" 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=rs104893621" 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=RCV000010090 OR RCV000591222 OR RCV001042434 OR RCV001075358" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010090, RCV000591222, RCV001042434, RCV001075358" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010090...</a>
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<p>In patients with rod monochromacy (ACHM2; <a href="/entry/216900">216900</a>), <a href="#9" class="mim-tip-reference" title="Wissinger, B., Gamer, D., Jagle, H., Giorda, R., Marx, T., Mayer, S., Tippmann, S., Broghammer, M., Jurklies, B., Rosenberg, T., Jacobson, S. G., Sener, E. C., and 17 others. <strong>CNGA3 mutations in hereditary cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 69: 722-737, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11536077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11536077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11536077[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/323613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11536077">Wissinger et al. (2001)</a> identified a C-to-T transition at nucleotide 1306 of the CNGA3 gene, resulting in an arg436-to-trp (R436W) substitution; the mutation was found in 6 of 110 mutant alleles. All but 1 of the patients with this mutation were of German origin. Haplotype analysis suggested multiple origins of the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11536077" 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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CNGA3, 2-BP DEL, NT1235
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1692914478 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1692914478;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=rs1692914478" 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=rs1692914478" 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=RCV002248369" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002248369" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002248369</a>
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<p>In a man of Senegalese ancestry (CIC02583) with achromatopsia (ACHM2; <a href="/entry/216900">216900</a>), <a href="#6" class="mim-tip-reference" title="Mejecase, C., Hummel, A., Mohand-Said, S., Andrieu, C., El Shamieh, S., Antonio, A., Condroyer, C., Boyard, F., Foussard, M., Blanchard, S., Letexier, M., Saraiva,, J.-P., Sahel, J.-A., Zeitz, C., Audo, I. <strong>Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.</strong> Clin. Genet. 95: 329-333, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30267408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30267408</a>] [<a href="https://doi.org/10.1111/cge.13453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30267408">Mejecase et al. (2019)</a> identified homozygosity for a 2-bp deletion (c.1235_1236del; chr2.98396405_98396406del, GRCh38) in the CNGA3 gene, causing a frameshift predicted to result in a premature termination codon (Glu412ValfsTer6). The proband also had features of retinitis pigmentosa (RP93; <a href="/entry/619845">619845</a>), as did his 2 older brothers (CIC02584 and CIC02585); all 3 were found to be compound heterozygous for mutations in the CC2D2A gene (<a href="/entry/612013#0010">612013.0010</a>-<a href="/entry/612013#0011">612013.0011</a>). The respective mutations segregated fully with disease in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30267408" 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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Biel, M., Zong, X., Distler, M., Bosse, E., Klugbauer, N., Murakami, M., Flockerzi, V., Hofmann, F.
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<strong>Another member of the cyclic nucleotide-gated channel family, expressed in testis, kidney, and heart.</strong>
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Proc. Nat. Acad. Sci. 91: 3505-3509, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8170936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8170936</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8170936" 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.91.9.3505" target="_blank">Full Text</a>]
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Ding, X.-Q., Harry, C. S., Umino, Y., Matveev, A. V., Fliesler, S. J., Barlow, R. B.
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<strong>Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.</strong>
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Hum. Molec. Genet. 18: 4770-4780, 2009.
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[<a href="https://doi.org/10.1093/hmg/ddp440" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/nature01201" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 04/19/2022
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Jane Kelly - updated : 9/11/2015<br>Marla J. F. O'Neill - updated : 11/2/2012<br>Marla J. F. O'Neill - updated : 9/18/2012<br>George E. Tiller - updated : 11/1/2010<br>Marla J. F. O'Neill - updated : 8/22/2007<br>Ada Hamosh - updated : 6/17/2003<br>Ada Hamosh - updated : 11/13/2002<br>Deborah L. Stone - updated : 11/7/2001<br>Victor A. McKusick - updated : 10/5/1998
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Victor A. McKusick : 7/26/1994
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carol : 04/07/2017<br>carol : 04/06/2017<br>carol : 01/14/2016<br>alopez : 1/13/2016<br>carol : 9/11/2015<br>terry : 11/7/2012<br>carol : 11/2/2012<br>carol : 9/18/2012<br>alopez : 11/3/2010<br>terry : 11/1/2010<br>wwang : 8/29/2007<br>terry : 8/22/2007<br>alopez : 7/28/2003<br>alopez : 6/18/2003<br>terry : 6/17/2003<br>alopez : 11/13/2002<br>terry : 11/12/2002<br>carol : 11/9/2001<br>carol : 11/7/2001<br>mgross : 5/23/2001<br>cwells : 5/10/2001<br>cwells : 5/10/2001<br>dkim : 10/12/1998<br>alopez : 10/5/1998<br>alopez : 10/5/1998<br>alopez : 7/29/1998<br>alopez : 7/28/1998<br>alopez : 7/28/1998<br>jamie : 5/16/1997<br>mimadm : 7/30/1994<br>jason : 7/26/1994
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 600053
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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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CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3
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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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CONE PHOTORECEPTOR cGMP-GATED CHANNEL<br />
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CYCLIC NUCLEOTIDE-GATED CHANNEL, OLFACTORY, 3; CNG3
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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: CNGA3</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: 2q11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:98,346,456-98,398,601 </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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2q11.2
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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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Achromatopsia 2
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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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216900
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cyclic nucleotide-gated (CNG) cation channels are essential in visual and olfactory signal transduction. These proteins, CNG1 (123825) and CNG2 (300338), are encoded by 2 different genes. The CNG1 channel is activated at 40-fold higher cGMP concentrations than the CNG2 channel. Biel et al. (1994) cloned an additional member of the cGMP-gated channel family, termed CNG3, from bovine kidney. Its deduced amino acid sequence was found to be 60% and 62% identical with the CNG-channel proteins from bovine rod outer segment and bovine olfactory epithelium, respectively. Northern analysis and RT-PCR showed that the CNG3 mRNA is present in testis, kidney, and heart. Biel et al. (1994) suggested that chemotaxis of sperm cells may be controlled during fertilization by a mechanism similar to olfactory signal transduction because testis expresses members of the olfactory-receptor gene family. </p><p>In complete achromatopsia, cone photoreceptors, the retinal sensory neurons mediating color vision, seem viable but fail to generate an electrical response to light. The CNGA3 gene encodes one of a family of alpha subunits that form CNG ion channels required for sensory transduction in rod photoreceptors and in olfactory neurons. The CNG3 channel consists of CNGA3 and CNGB3 (605080) in a heterotetrameric structure of 2 alpha and 2 beta subunits (Sundin et al., 2000). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Zhong et al. (2002) reported the identification of a leucine zipper homology domain named CLZ (carboxy-terminal leucine zipper) that is present in the distal C terminus of CNG channel A subunits but is absent from B subunits and mediates an inter-subunit interaction. With crosslinking, nondenaturing gel electrophoresis, and analytical centrifugation, this CLZ domain was found to mediate a trimeric interaction. In addition, a mutant cone CNG channel A subunit with its CLZ domain replaced by a generic trimeric leucine zipper produced channels that behaved much like the wildtype, but less so if replaced by a dimeric or tetrameric leucine zipper. This A-subunit-only, trimeric interaction suggested that heteromeric CNG channels actually adopt a 3A:1B stoichiometry. Biochemical analysis of the purified bovine rod CNG channel confirmed this conclusion. Zhong et al. (2002) concluded that this revised stoichiometry provides a new foundation for understanding the structure and function of the CNG channel family. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene Family</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>Yau (1994) reviewed the expanding family of cyclic nucleotide-gated channels. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wissinger et al. (1998) performed linkage analysis in 8 families with total colorblindness, also known as rod monochromacy or achromatopsia, an autosomal recessively inherited condition. Linkage was found with markers located at the pericentromeric region of chromosome 2. Further homozygosity mapping refined the locus to an interval of approximately 3 cM covering the locus, which they designated ACHM2. Radiation hybrid mapping of the CNGA3 gene resulted in a maximum lod score of 16.1 with marker D2S2311, which had been shown to be closely situated to the ACHM2 locus. The findings indicated that the CNGA3 gene mapped within the critical interval of the ACHM2 locus. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Kohl et al. (1998) screened the CNGA3 gene in patients from 5 families with rod monochromacy (ACHM2; 216900) linked to 2q11. In one family, affected members were homozygous for a pro163-to-leu missense mutation (P163L; 600053.0001). In a second family, homozygosity for an arg283-to-trp missense mutation was found (R283W; 600053.0002). Compound heterozygosity was found in other patients. Notably, 7 of the 8 mutations identified by Kohl et al. (1998) were in exon 7; the exceptional mutation, P163L, was located in exon 5. </p><p>Wissinger et al. (2001) screened for CNGA3 mutations in 258 independent families with hereditary cone photoreceptor disorders and found CNGA3 mutations not only in patients with the complete form of achromatopsia, but also in patients with incomplete achromatopsia and even in a few patients diagnosed with severe progressive cone dystrophy. Mutations were identified in 53 families and included 8 previously described mutations and 38 novel mutations. These mutations comprised 39 amino acid substitutions, 4 stop-codon mutations, two 1-bp insertions, and one 3-bp in-frame deletion. Most of the amino acid substitutions affected residues conserved in the CNG channel family and were clustered at the cytoplasmic face of transmembrane domains (TM) S1 and S2, in TM S4, and in the cGMP-binding domain. Four mutations, arg277 to cys (R277C; 600053.0009), arg283 to trp (R283W; 600053.0002), arg436 to trp (R435W; 600053.0010), and phe547 to leu (F547L; 600053.0006), accounted for 41.8% of all the detected mutations. </p><p>Wiszniewski et al. (2007) analyzed the CNGA3, CNGB3, and GNAT2 (139340) genes in 16 unrelated patients with autosomal recessive ACHM: 10 patients had mutations in CNGB3, 3 had mutations in CNGA3, and no coding region mutations were found in 3 patients. The authors concluded that CNGA3 and CNGB3 mutations are responsible for the substantial majority of achromatopsia. </p><p>In a study of 15 Chinese patients from 10 unrelated families with ACHM, Liang et al. (2015) identified CNGA3 mutations in 13 patients from 8 families. </p><p>In a man of Senegalese ancestry who had achromatopsia as well as features of retinitis pigmentosa (see RP93, 619845), Mejecase et al. (2019) identified homozygosity for a 2-bp deletion in the CNGA3 gene (600053.0011). The proband's 2 older brothers exhibited nonsyndromic RP, and all 3 brothers were compound heterozygous for mutations in the CC2D2A gene (612013.0010-612013.0011). </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
In a female patient from a consanguineous Saudi Arabian family who had been diagnosed with Leber congenital amaurosis (LCA; see 204000), Wang et al. (2011) identified homozygosity for a missense mutation in the CNGA3 gene (1579G-C; L527M) that segregated with disease in the family. The mutation, located at a conserved residue in the cGMP-binding domain, was not found in 200 controls or in the dbSNP (build 130) or 1000 Genomes Project databases. The female patient had nystagmus noted shortly after birth, and electroretinogram was nonrecordable at 10 months of age. At 2 years of age she was noted to have very sluggish pupils and no visual responses were elicited. </p>
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</span>
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<div>
|
|
<br />
|
|
</div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
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|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Hattar et al. (2003) investigated whether photoreceptor systems besides rod-cone and melanopsin participate in pupillary reflex, light-induced phase delays of the circadian clock, and period lengthening of the circadian rhythm in constant light. Using mice lacking rods and cones, Hattar et al. (2003) measured the action spectrum for phase-shifting the circadian rhythm of locomotor behavior. This spectrum matched that for the pupillary light reflex in mice of the same genotype, and that for the intrinsic photosensitivity of the melanopsin-expressing retinal ganglion cells. Hattar et al. (2003) also generated triple-knockout mice (for Gnat, 139330, Cnga3, and Opn4, 606665) in which the rod-cone and melanopsin systems were both silenced. These animals had an intact retina but failed to show any significant pupil reflex, to entrain to light/dark cycles, and to show any masking response to light. Thus, Hattar et al. (2003) concluded that the rod-cone and melanopsin systems together seem to provide all of the photic input for these accessory visual functions. </p><p>Ding et al. (2009) observed that Cnga3 protein and mRNA levels were significantly decreased in Cngb3 -/- mice; in contrast, mRNA levels of S-opsin (CBD; 303800), Gnat2, and Pde6c (600827) were unchanged relative to wildtype mice. The authors concluded that loss of CNGB3 reduces biosynthesis of CNGA3 and impairs cone CNG channel function. They suggested that downregulation of CNGA3 may contribute to the pathogenic mechanism by which CNGB3 mutations lead to human cone disease. </p>
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|
</span>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>11 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 ACHROMATOPSIA 2</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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|
|
CNGA3, PRO163LEU
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|
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<br />
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|
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SNP: rs104893612,
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|
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gnomAD: rs104893612,
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ClinVar: RCV000010081, RCV004814869
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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>Kohl et al. (1998) found that affected members in a family with rod monochromacy (ACHM2; 216900) were homozygous for a C-to-T transition at nucleotide 528 of the CNGA3 gene, resulting in a pro163-to-leu (P163L) substitution. </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>.0002 ACHROMATOPSIA 2</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CNGA3, ARG283TRP
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<br />
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|
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SNP: rs104893613,
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gnomAD: rs104893613,
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ClinVar: RCV000010082, RCV000415133, RCV001222182, RCV004794328
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In affected members of a family with rod monochromacy (ACHM2; 216900), Kohl et al. (1998) found homozygosity for a C-to-T transition at nucleotide 887 of the CNGA3 gene, resulting in an arg283-to-trp (R283W) substitution. </p><p>Wissinger et al. (2001) found the R283W mutation in 19 of 110 mutant alleles, including 14 alleles in 7 homozygous patients. Haplotype analysis suggested that these alleles, which were particularly frequent among patients from Scandinavia and northern Italy, have a common origin. Some of the patients homozygous for this mutation had complete achromatopsia with no detectable cone function, whereas others had incomplete achromatopsia with residual cone ERG responses and/or color vision. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 ACHROMATOPSIA 2</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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CNGA3, ARG283GLN
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<br />
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|
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SNP: rs104893614,
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|
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gnomAD: rs104893614,
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ClinVar: RCV000010083, RCV001002963, RCV001050960, RCV001075581
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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>Kohl et al. (1998) found that a single patient with rod monochromacy (ACHM2; 216900) was a compound heterozygote. One mutation was arg283 to gln (R283Q), involving the same codon as the arg283-to-trp mutation (600053.0002). The nucleotide change was G to A at nucleotide 888. The second allele, of maternal origin, carried a G-to-A mutation at nucleotide 1709, resulting in a gly557-to-arg (G557R) substitution (600053.0004). </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 2</strong>
|
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</span>
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</h4>
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</div>
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<div>
|
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<span class="mim-text-font">
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CNGA3, GLY557ARG
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<br />
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|
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SNP: rs104893615,
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gnomAD: rs104893615,
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ClinVar: RCV000010084, RCV000169654, RCV001002972, RCV001074603, RCV001219847, RCV002512958
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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 gly557-to-arg (G557R) mutation in the CNGA3 gene that was found in compound heterozygous state in a patient with achromatopsia-2 by Kohl et al. (1998), see 600053.0003. </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>.0005 ACHROMATOPSIA 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CNGA3, THR291ARG
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<br />
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SNP: rs104893616,
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ClinVar: RCV000010085, RCV001075211
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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>Kohl et al. (1998) found compound heterozygosity of mutations in the CNGA3 gene as the basis of rod monochromacy (ACHM2; 216900) in one family: thr291 to arg (T291R) and phe547 to leu (F547L; 600053.0006), where the 2 allelic mutations were caused by a C-to-G transversion at nucleotide 912 and C-to-A transversion at nucleotide 1681, respectively. </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>.0006 ACHROMATOPSIA 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CNGA3, PHE547LEU
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<br />
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SNP: rs104893617,
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gnomAD: rs104893617,
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ClinVar: RCV000010086, RCV000415000, RCV001002970, RCV001055558, RCV001074686
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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 phe547-to-leu (F547L) mutation in the CNGA3 gene that was found in compound heterozygous state in patients with achromatopsia-2 by Kohl et al. (1998), see 600053.0005. </p><p>Wissinger et al. (2001) found the F547L mutation in 12 of 110 mutant alleles from patients from German, Dutch, Italian, Turkish, and Pakistani families. Haplotype analysis suggested multiple origins of 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>.0007 ACHROMATOPSIA 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CNGA3, ARG411TRP
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<br />
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SNP: rs137852608,
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gnomAD: rs137852608,
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ClinVar: RCV000010087, RCV001052998, RCV001075289
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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>Kohl et al. (1998) found compound heterozygosity for mutations in the CNGA3 gene in a sibship with 2 affected individuals with rod monochromacy (ACHM2; 216900). A C-to-T transition at nucleotide 1268 caused a substitution of tryptophan for arginine at codon 411. The second pathologic change was val529 to met (600053.0008). </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>.0008 ACHROMATOPSIA 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CNGA3, VAL529MET
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<br />
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SNP: rs104893619,
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gnomAD: rs104893619,
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ClinVar: RCV000010088, RCV000352391, RCV001002968, RCV004754254, RCV004814870
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In 2 sibs with rod monochromacy (ACHM2; 216900), Kohl et al. (1998) identified compound heterozygosity at the CNGA locus: one allele carried the arg411-to-trp mutation (600053.0007); the other allele carried 2 changes, thr153 to met and val529 to met (V529M), of which the V529M appeared to be the pathologic change. The V529M mutation was said to be caused by a G-to-A transition at nucleotide 1625. </p><p>Zelinger et al. (2010) performed mutation analysis of more than 700 families from the Israeli and Palestinian populations with inherited retinal diseases and identified the V529M mutation, caused by a 1585G-A transition, in 10 of 30 families with achromatopsia, including 6 Arab Muslim families and 4 Oriental Jewish families. Mutation carrier frequencies were estimated at 0.8% and 1%, respectively. In addition, V529M was identified in 3 previously unreported Christian European families. The European patients were all compound heterozygous for V529M and another CNGA3 mutation, whereas most of the Arab Muslim and Jewish patients were homozygous for V529M. Haplotype analysis of mutation-bearing chromosomes from Middle Eastern and European patients revealed a shared Muslim-Jewish haplotype, which was different from the haplotypes detected in European patients, indicating a recurrent mutation stratified by a Jewish-Muslim founder effect. Microsatellite analysis of a 21.5-cM interval including CNGA3 and the adjacent chromosome 2 centromere revealed a unique and extremely rare haplotype associated with the V529M mutation. The shared mutation was calculated to have arisen about 200 generations earlier, in an ancient common ancestor who lived approximately 5,000 years ago. </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>.0009 ACHROMATOPSIA 2</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CNGA3, ARG277CYS
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<br />
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SNP: rs104893620,
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gnomAD: rs104893620,
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|
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ClinVar: RCV000010089, RCV000596449, RCV000626801, RCV001092740, RCV004814871, RCV004814872
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In patients with rod monochromacy (ACHM2; 216900), Wissinger et al. (2001) identified a C-to-T transition at nucleotide 829 of the CNGA3 gene, resulting in an arg277-to-cys (R277C) substitution; the mutation was found in 9 of 110 mutant alleles. </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 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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CNGA3, ARG436TRP
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<br />
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SNP: rs104893621,
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|
|
gnomAD: rs104893621,
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|
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|
|
|
ClinVar: RCV000010090, RCV000591222, RCV001042434, RCV001075358
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In patients with rod monochromacy (ACHM2; 216900), Wissinger et al. (2001) identified a C-to-T transition at nucleotide 1306 of the CNGA3 gene, resulting in an arg436-to-trp (R436W) substitution; the mutation was found in 6 of 110 mutant alleles. All but 1 of the patients with this mutation were of German origin. Haplotype analysis suggested multiple origins of the mutation. </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>.0011 ACHROMATOPSIA 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
CNGA3, 2-BP DEL, NT1235
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1692914478,
|
|
|
|
|
|
|
|
ClinVar: RCV002248369
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a man of Senegalese ancestry (CIC02583) with achromatopsia (ACHM2; 216900), Mejecase et al. (2019) identified homozygosity for a 2-bp deletion (c.1235_1236del; chr2.98396405_98396406del, GRCh38) in the CNGA3 gene, causing a frameshift predicted to result in a premature termination codon (Glu412ValfsTer6). The proband also had features of retinitis pigmentosa (RP93; 619845), as did his 2 older brothers (CIC02584 and CIC02585); all 3 were found to be compound heterozygous for mutations in the CC2D2A gene (612013.0010-612013.0011). The respective mutations segregated fully with disease in the family. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
|
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<p class="mim-text-font">
|
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Biel, M., Zong, X., Distler, M., Bosse, E., Klugbauer, N., Murakami, M., Flockerzi, V., Hofmann, F.
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<strong>Another member of the cyclic nucleotide-gated channel family, expressed in testis, kidney, and heart.</strong>
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Proc. Nat. Acad. Sci. 91: 3505-3509, 1994.
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[Full Text: https://doi.org/10.1073/pnas.91.9.3505]
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Ding, X.-Q., Harry, C. S., Umino, Y., Matveev, A. V., Fliesler, S. J., Barlow, R. B.
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<strong>Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.</strong>
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Hattar, S., Lucas, R. J., Mrosovsky, N., Thompson, S., Douglas, R. H., Hankins, M. W., Lem, J., Biel, M., Hofmann, F., Foster, R. G., Yau, K.-W.
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<strong>Melanopsin and rod-cone photoreceptive systems account for all major accessory visual functions in mice.</strong>
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Nature 424: 76-81, 2003.
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[PubMed: 12808468]
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[Full Text: https://doi.org/10.1038/nature01761]
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Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S. G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L. T., Wissinger, B.
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<strong>Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.</strong>
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Nature Genet. 19: 257-259, 1998.
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[PubMed: 9662398]
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Liang, X., Dong, F., Li, H., Li, H., Yang, L., Sui, R.
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<strong>Novel CNGA3 mutations in Chinese patients with achromatopsia.</strong>
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Brit. J. Ophthal. 99: 571-576, 2015.
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[Full Text: https://doi.org/10.1136/bjophthalmol-2014-305432]
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<p class="mim-text-font">
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Mejecase, C., Hummel, A., Mohand-Said, S., Andrieu, C., El Shamieh, S., Antonio, A., Condroyer, C., Boyard, F., Foussard, M., Blanchard, S., Letexier, M., Saraiva,, J.-P., Sahel, J.-A., Zeitz, C., Audo, I.
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<strong>Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.</strong>
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Clin. Genet. 95: 329-333, 2019.
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[PubMed: 30267408]
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[Full Text: https://doi.org/10.1111/cge.13453]
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<p class="mim-text-font">
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Sundin, O. H., Yang, J. M., Li, Y., Zhu, D., Hurd, J. N., Mitchell, T. N., Silva, E. D., Maumenee, I. H.
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<strong>Genetic basis of total colourblindness among the Pingelapese islanders.</strong>
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Nature Genet. 25: 289-293, 2000.
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[PubMed: 10888875]
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[Full Text: https://doi.org/10.1038/77162]
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<li>
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<p class="mim-text-font">
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Wang, X., Wang, H., Cao, M., Li, Z., Chen, X., Patenia, C., Gore, A., Abboud, E. B., Al-Rajhi, A. A., Lewis, R. A., Lupski, J. R., Mardon, G., Zhang, K., Muzny, D., Gibbs, R. A., Chen, R.
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<strong>Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.</strong>
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Hum. Mutat. 32: 1450-1459, 2011.
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[PubMed: 21901789]
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[Full Text: https://doi.org/10.1002/humu.21587]
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<p class="mim-text-font">
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Wissinger, B., Gamer, D., Jagle, H., Giorda, R., Marx, T., Mayer, S., Tippmann, S., Broghammer, M., Jurklies, B., Rosenberg, T., Jacobson, S. G., Sener, E. C., and 17 others.
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<strong>CNGA3 mutations in hereditary cone photoreceptor disorders.</strong>
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Am. J. Hum. Genet. 69: 722-737, 2001.
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[PubMed: 11536077]
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[Full Text: https://doi.org/10.1086/323613]
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</p>
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<li>
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<p class="mim-text-font">
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|
Wissinger, B., Jagle, H., Kohl, S., Broghammer, M., Baumann, B., Hanna, D. B., Hedels, C., Apfelstedt-Sylla, E., Randazzo, G., Jacobson, S. G., Zrenner, E., Sharpe, L. T.
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<strong>Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.</strong>
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Genomics 51: 325-331, 1998.
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[PubMed: 9721202]
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[Full Text: https://doi.org/10.1006/geno.1998.5390]
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</p>
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<li>
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<p class="mim-text-font">
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|
Wiszniewski, W., Lewis, R. A., Lupski, J. R.
|
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<strong>Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of a uniparental disomy 14.</strong>
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|
Hum. Genet. 121: 433-439, 2007.
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[PubMed: 17265047]
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[Full Text: https://doi.org/10.1007/s00439-006-0314-y]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Yau, K.-W.
|
|
<strong>Cyclic nucleotide-gated channels: an expanding new family of ion channels.</strong>
|
|
Proc. Nat. Acad. Sci. 91: 3481-3483, 1994.
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|
|
|
|
|
[PubMed: 7513422]
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|
|
[Full Text: https://doi.org/10.1073/pnas.91.9.3481]
|
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|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Zelinger, L., Greenberg, A., Kohl, S., Banin, E., Sharon, D.
|
|
<strong>An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews.</strong>
|
|
Hum. Genet. 128: 261-267, 2010.
|
|
|
|
|
|
[PubMed: 20549516]
|
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|
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|
|
[Full Text: https://doi.org/10.1007/s00439-010-0846-z]
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Zhong, H., Molday, L. L., Molday, R. S., Yau, K.-W.
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<strong>The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry.</strong>
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Nature 420: 193-198, 2002.
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[PubMed: 12432397]
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[Full Text: https://doi.org/10.1038/nature01201]
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Marla J. F. O'Neill - updated : 04/19/2022<br>Jane Kelly - updated : 9/11/2015<br>Marla J. F. O'Neill - updated : 11/2/2012<br>Marla J. F. O'Neill - updated : 9/18/2012<br>George E. Tiller - updated : 11/1/2010<br>Marla J. F. O'Neill - updated : 8/22/2007<br>Ada Hamosh - updated : 6/17/2003<br>Ada Hamosh - updated : 11/13/2002<br>Deborah L. Stone - updated : 11/7/2001<br>Victor A. McKusick - updated : 10/5/1998
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Victor A. McKusick : 7/26/1994
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