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Entry
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- *300110 - CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F
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- OMIM
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<p>
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<span class="h4">*300110</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<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="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300110">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000102001;t=ENST00000323022" 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=778" 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=300110" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000102001;t=ENST00000323022" 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_001256789,NM_001256790,NM_005183,XM_011543983,XM_017029836" 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_001256789" 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=300110" 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=02119&isoform_id=02119_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/CACNA1F" 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/2707602,3183953,3297875,4138822,6525019,53832007,119571062,119571063,119571064,119571065,119571066,119571067,119571068,226693506,331691400,377823713,377823715,768034164,1034675251,2462631088,2462631090" 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/O60840" 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=778" 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=ENSG00000102001;t=ENST00000323022" 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=CACNA1F" 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=CACNA1F" 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+778" 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/CACNA1F" 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:778" 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/778" 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=chrX&hgg_gene=ENST00000323022.10&hgg_start=49205063&hgg_end=49233340&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:1393" 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/cacna1f" 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=300110[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=300110[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://www.deciphergenomics.org/gene/CACNA1F/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000102001" 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=CACNA1F" 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=CACNA1F" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/CACNA1F" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">CACNA1F database at LOVD</a></div><div style="margin-left: 0.5em;"><a href="http://www.retina-international.org/files/sci-news/cacnamut.htm" title="Mutations of the L-type Calcium-Channel Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Mutations of the L-type Ca…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CACNA1F&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/PA26010" 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:1393" 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/FBgn0001991.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:1859639" 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/CACNA1F#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:1859639" 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/778/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=778" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00001187;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-031104-1" 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:778" 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=CACNA1F&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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300110
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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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CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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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=CACNA1F" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CACNA1F</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/X/275?start=-3&limit=10&highlight=275">Xp11.23</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:49205063-49233340&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'})">X:49,205,063-49,233,340</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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<span class="hidden-sm hidden-xs pull-right">
|
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<a href="/clinicalSynopsis/table?mimNumber=300600,300476,300071" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
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</a>
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</span>
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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="3">
|
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<span class="mim-font">
|
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<a href="/geneMap/X/275?start=-3&limit=10&highlight=275">
|
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Xp11.23
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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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Aland Island eye disease
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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/300600"> 300600 </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="X-linked">XL</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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<tr>
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<td>
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<span class="mim-font">
|
|
Cone-rod dystrophy, X-linked, 3
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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/300476"> 300476 </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="X-linked recessive">XLR</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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<tr>
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<td>
|
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<span class="mim-font">
|
|
Night blindness, congenital stationary (incomplete), 2A, X-linked
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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/300071"> 300071 </a>
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<strong>TEXT</strong>
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<p>The human Xp11.23-p11.22 interval is involved in several hereditary diseases. <a href="#5" class="mim-tip-reference" title="Fisher, S. E., Ciccodicola, A., Tanaka, K., Curci, A., Desicato, S., D'Urso, M., Craig, I. W. <strong>Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp.</strong> Genomics 45: 340-347, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9344658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9344658</a>] [<a href="https://doi.org/10.1006/geno.1997.4941" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9344658">Fisher et al. (1997)</a> noted that in constructing YAC contigs spanning this region, it was found that the region of Xp surrounding the synaptophysin gene (SYP; <a href="/entry/313475">313475</a>) was refractory to cloning in YACs, but highly stable in cosmids. Preliminary analysis of the cosmid suggested a high density of coding sequences and prompted complete sequencing of an SYP-containing cosmid. <a href="#5" class="mim-tip-reference" title="Fisher, S. E., Ciccodicola, A., Tanaka, K., Curci, A., Desicato, S., D'Urso, M., Craig, I. W. <strong>Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp.</strong> Genomics 45: 340-347, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9344658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9344658</a>] [<a href="https://doi.org/10.1006/geno.1997.4941" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9344658">Fisher et al. (1997)</a> identified 29 putative exons organized into 3 genes, in addition to the 7 exons of the complete SYP coding region, all mapping within a 44-kb interval. Two genes were novel: one (CACNA1F) shows high homology to alpha-1 subunits of calcium channels (see CACNA2; <a href="/entry/114204">114204</a>), whereas the other (LMO6; <a href="/entry/300111">300111</a>) encodes a product with significant similarity to LIM-domain proteins. RT-PCR and Northern blot studies confirmed that these loci were indeed transcribed. The third locus (A4; <a href="/entry/300112">300112</a>) had been previously described but not localized to a specific chromosomal site. The region has an elevated GC content (more than 53%), and <a href="#5" class="mim-tip-reference" title="Fisher, S. E., Ciccodicola, A., Tanaka, K., Curci, A., Desicato, S., D'Urso, M., Craig, I. W. <strong>Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp.</strong> Genomics 45: 340-347, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9344658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9344658</a>] [<a href="https://doi.org/10.1006/geno.1997.4941" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9344658">Fisher et al. (1997)</a> identified CpG islands associated with the 5-prime ends of SYP, A4, and LMO6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9344658" 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="#19" class="mim-tip-reference" title="Naylor, M. J., Rancourt, D. E., Bech-Hansen, N. T. <strong>Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness.</strong> Genomics 66: 324-327, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10873387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10873387</a>] [<a href="https://doi.org/10.1006/geno.2000.6204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10873387">Naylor et al. (2000)</a> cloned the mouse Cacna1f gene. The deduced 1,985-amino acid channel protein shares 90% identity with the 1,977-amino acid human protein, with almost perfect conservation between the functional domains and only a single amino acid substitution within the transmembrane segments. RT-PCR of several mouse tissues detected Cacna1f expression only in eye. In situ hybridization detected Cacna1f in the outer nuclear layer, the inner nuclear layer, and the ganglion cell layer of mouse retina. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10873387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>To study the electrophysiologic and pharmacologic properties of the L-type calcium channel CACNA1F, <a href="#1" class="mim-tip-reference" title="Baumann, L., Gerstner, A., Zong, X., Biel, M., Wahl-Schott, C. <strong>Functional characterization of the L-type Ca(2+) channel Cav1.4-alpha-1 from the mouse retina.</strong> Invest. Ophthal. Vis. Sci. 45: 708-713, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14744918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14744918</a>] [<a href="https://doi.org/10.1167/iovs.03-0937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14744918">Baumann et al. (2004)</a> cloned and functionally expressed the complete Cacna1f cDNA from the mouse retina. The data indicated that CACNA1F constitutes the major molecular correlate of the retinal L-type calcium current. Its intrinsic biophysical properties, in particular its unique inactivation properties, enable it to provide a sustained calcium current over the voltage range required for tonic glutamate release at the photoreceptor synapse. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14744918" 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="#15" class="mim-tip-reference" title="Liu, X., Yang, P. S., Yang, W., Yue, D. T. <strong>Enzyme-inhibitor-like tuning of Ca(2+) channel connectivity with calmodulin.</strong> Nature 463: 968-972, 2010. Note: Erratum: Nature 464: 1390 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20139964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20139964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20139964[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/nature08766" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20139964">Liu et al. (2010)</a> combined electrophysiology to characterize channel regulation with optical fluorescence resonance energy transfer sensor determination of free-apocalmodulin (CALM1; <a href="/entry/114180">114180</a>) concentration in live cells. This approach translates quantitative calmodulin biochemistry from the traditional test-tube context into the realm of functioning holochannels within intact cells. From this perspective, <a href="#15" class="mim-tip-reference" title="Liu, X., Yang, P. S., Yang, W., Yue, D. T. <strong>Enzyme-inhibitor-like tuning of Ca(2+) channel connectivity with calmodulin.</strong> Nature 463: 968-972, 2010. Note: Erratum: Nature 464: 1390 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20139964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20139964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20139964[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/nature08766" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20139964">Liu et al. (2010)</a> found that long splice forms of Ca(V)1.3 (CACNA1D; <a href="/entry/114206">114206</a>) and Ca(V)1.4 (CACNA1F) channels include a distal carboxy tail that resembles an enzyme competitive inhibitor that retunes channel affinity for apocalmodulin such that natural calmodulin variations affect the strength of Ca(2+) feedback modulation. Given the ubiquity of these channels, the connection between ambient calmodulin levels and Ca(2+) entry through channels is broadly significant for Ca(2+) homeostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20139964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Fisher, S. E., Ciccodicola, A., Tanaka, K., Curci, A., Desicato, S., D'Urso, M., Craig, I. W. <strong>Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp.</strong> Genomics 45: 340-347, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9344658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9344658</a>] [<a href="https://doi.org/10.1006/geno.1997.4941" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9344658">Fisher et al. (1997)</a> determined that the order of loci in the Xp11.23-p11.22 interval is Xpter-A4-LMO6-SYP-CACNA1F-Xcen, with intergenic distances ranging from approximately 300 bp to approximately 5 kb. The density of transcribed sequences in this area (more than 80%) is comparable to that found in the highly gene-rich band Xq28. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9344658" 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="#19" class="mim-tip-reference" title="Naylor, M. J., Rancourt, D. E., Bech-Hansen, N. T. <strong>Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness.</strong> Genomics 66: 324-327, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10873387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10873387</a>] [<a href="https://doi.org/10.1006/geno.2000.6204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10873387">Naylor et al. (2000)</a> mapped the mouse Cacna1f gene to a region of the X chromosome that shows homology of synteny to human chromosome Xp11.23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10873387" 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><strong><em>Incomplete Congenital Stationary Night Blindness, Type 2A</em></strong></p><p>
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By mutation analysis in 13 families with the incomplete form of X-linked congenital stationary night blindness (CSNB2A; <a href="/entry/300071">300071</a>), <a href="#20" class="mim-tip-reference" title="Strom, T. M., Nyakatura, G., Apfelstedt-Sylla, E., Hellebrand, H., Lorenz, B., Weber, B. H. F., Wutz, K., Gutwillinger, N., Ruther, K., Drescher, B., Sauer, C., Zrenner, E., Meitinger, T., Rosenthal, A., Meindl, A. <strong>An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.</strong> Nature Genet. 19: 260-263, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662399</a>] [<a href="https://doi.org/10.1038/940" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662399">Strom et al. (1998)</a> identified 9 different mutations in 10 families, including 3 nonsense and 1 frameshift mutation. Similarly, by mutation analysis of the CACNA1F gene in 20 families with incomplete CSNB, <a href="#2" class="mim-tip-reference" title="Bech-Hansen, N. T., Naylor, M. J., Maybaum, T. A., Pearce, W. G., Koop, B., Fishman, G. A., Mets, M., Musarella, M. A., Boycott, K. M. <strong>Loss-of-function mutations in a calcium-channel alpha-1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.</strong> Nature Genet. 19: 264-267, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662400</a>] [<a href="https://doi.org/10.1038/947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662400">Bech-Hansen et al. (1998)</a> found 6 different mutations, all of which predicted premature protein truncation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9662400+9662399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Boycott, K. M., Maybaum, T. A., Naylor, M. J., Weleber, R. G., Robitaille, J., Miyake, Y., Bergen, A. A. B., Pierpont, M. E., Pearce, W. G., Bech-Hansen, N. T. <strong>A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.</strong> Hum. Genet. 108: 91-97, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11281458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11281458</a>] [<a href="https://doi.org/10.1007/s004390100461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11281458">Boycott et al. (2001)</a> summarized 20 CACNA1F mutations that had been identified in 36 families with incomplete X-linked congenital stationary night blindness. Three of the mutations accounted for incomplete CSNB in 2 or more families, and a founder effect was demonstrable for one of these mutations. Of the 20 mutations identified, 14 (70%) were predicted to cause premature protein truncation and 6 (30%) to cause amino acid substitutions or deletions at conserved positions in the alpha-1F protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11281458" 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="#21" class="mim-tip-reference" title="Wutz, K., Sauer, C., Zrenner, E., Lorenz, B., Alitalo, T., Broghammer, M., Hergersberg, M., de la Chapelle, A., Weber, B. H. F., Wissinger, B., Meindl, A., Pusch, C. M. <strong>Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.</strong> Europ. J. Hum. Genet. 10: 449-456, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12111638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12111638</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12111638">Wutz et al. (2002)</a> reported comprehensive mutation analysis of the 48 exons of the CACNA1F gene in 34 unrelated cases (33 families and 1 sporadic case) diagnosed with the incomplete form of X-linked congenital stationary night blindness, based on ERG data and dark adaptation tests. Ten of the families had been partially characterized previously (<a href="#20" class="mim-tip-reference" title="Strom, T. M., Nyakatura, G., Apfelstedt-Sylla, E., Hellebrand, H., Lorenz, B., Weber, B. H. F., Wutz, K., Gutwillinger, N., Ruther, K., Drescher, B., Sauer, C., Zrenner, E., Meitinger, T., Rosenthal, A., Meindl, A. <strong>An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.</strong> Nature Genet. 19: 260-263, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662399</a>] [<a href="https://doi.org/10.1038/940" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662399">Strom et al., 1998</a>). The patients were of German (32), Belgian (1), and French (1) origin. Mutation analysis was also performed in 2 patients with an Aland Island disease (<a href="/entry/300600">300600</a>)-related phenotype. A total of 30 different mutations (20 of which were novel) were identified in 33 patients, 31 CSNB2 familial cases, and the 2 patients with an AIED-like phenotype. Reevaluation of the AIED-like phenotype indicated full compatibility of the patients' ophthalmologic findings with CSNB2. The mutations were equally distributed over the entire gene sequence and included 13 missense, 8 nonsense, 5 splice site, 3 deletion, and 1 insertion mutations. RT-PCR experiments in mouse strains with photoreceptor degeneration showed that the Cacna1f gene is not exclusively expressed in photoreceptors but in the outer nuclear, the inner nuclear, and the ganglion cell layer as well. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12111638+9662399" 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="#18" class="mim-tip-reference" title="Nakamura, M., Ito, S., Piao, C-H., Terasaki, H., Miyake, Y. <strong>Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family.</strong> Arch. Ophthal. 121: 1028-1033, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12860808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12860808</a>] [<a href="https://doi.org/10.1001/archopht.121.7.1028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12860808">Nakamura et al. (2003)</a> described 2 Japanese brothers with retinal and optic disc atrophy and progressive decrease of visual function with increasing age. Although these clinical features are atypical of patients with incomplete CSNB, both patients had an in-frame mutation with deletion and insertion in exon 4 of the CACNA1F gene. In both patients, the bright flash, mixed rod-cone ERG had a negative configuration, characteristic of incomplete CSNB. However, the full-field scotopic and photopic ERGs were nonrecordable, indicating severe, diffuse retinal malfunction, not typical of incomplete CSNB. These findings underscored the phenotypic variability of incomplete CSNB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12860808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Hemara-Wahanui, A., Berjukow, S., Hope, C. I., Dearden, P. K., Wu, S.-B., Wilson-Wheeler, J., Sharp, D. M., Lundon-Treweek, P., Clover, G. M., Hoda, J.-C., Striessnig, J., Marksteiner, R., Hering, S., Maw, M. A. <strong>A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Ca(v)1.4 channel activation.</strong> Proc. Nat. Acad. Sci. 102: 7553-7558, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15897456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15897456</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15897456[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0501907102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15897456">Hemara-Wahanui et al. (2005)</a> identified an ile745-to-thr mutation (I745T; <a href="#0006">300110.0006</a>) in the CACNA1F gene in a New Zealand family with a visual disorder more severe than typical CSNB2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15897456" 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>Cone-Rod Dystrophy 3</em></strong></p><p>
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In a large Finnish family with X-linked cone-rod dystrophy-3 (CORDX3; <a href="/entry/300476">300476</a>), originally described by <a href="#17" class="mim-tip-reference" title="Mantyjarvi, M., Nurmenniemi, P., Partanen, J., Myohanen, T., Peippo, M., Alitalo, T. <strong>Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy.</strong> Acta Ophthal. Scand. 79: 359-365, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11453854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11453854</a>] [<a href="https://doi.org/10.1034/j.1600-0420.2001.079004359.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11453854">Mantyjarvi et al. (2001)</a>, <a href="#13" class="mim-tip-reference" title="Jalkanen, R., Mantyjarvi, M., Tobias, R., Isosomppi, J., Sankila, E.-M., Alitalo, T., Bech-Hansen, N. T. <strong>X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. (Letter)</strong> J. Med. Genet. 43: 699-704, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16505158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16505158</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16505158[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/10.1136/jmg.2006.040741" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16505158">Jalkanen et al. (2006)</a> identified a splice site mutation in the CACNA1F gene (<a href="#0007">300110.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11453854+16505158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By whole-exome sequencing in 47 Chinese probands with CORD, <a href="#9" class="mim-tip-reference" title="Huang, L., Zhang, Q., Li, S., Guan, L., Xiao, X., Zhang, J., Jia, X., Sun, W., Zhu, Z., Gao, Y., Yin, Y., Wang, P., Guo, X., Wang, J., Zhang, Q. <strong>Exome sequencing of 47 Chinese families with cone-rod dystrophy: mutations in 25 known causative genes.</strong> PLoS One 8: e65546, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23776498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23776498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23776498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0065546" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23776498">Huang et al. (2013)</a> identified 1 male proband with a missense mutation in the CACNA1F gene (G848S; <a href="#0009">300110.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23776498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected males and unaffected female carriers from a large German family with cone-rod dystrophy mapping to chromosome Xp11.3-p11.23, <a href="#7" class="mim-tip-reference" title="Hauke, J., Schild, A., Neugebauer, A., Lappa, A., Fricke, J., Fauser, S., Rosler, S., Pannes, A., Zarrinnam, D., Altmuller, J., Motameny, S., Nurnberg, G., Nurnberg, P., Hahnen, E., Beck, B. B. <strong>A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.</strong> PLoS One 8: e76414, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24124559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24124559</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24124559[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0076414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24124559">Hauke et al. (2013)</a> identified hemizygosity or heterozygosity, respectively, for a large in-frame deletion encompassing exons 18 to 26 of the CACNA1F gene (<a href="#0010">300110.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24124559" 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>Aland Island Eye Disease</em></strong></p><p>
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In affected members of the original family with Aland Island eye disease (<a href="/entry/300600">300600</a>) described by <a href="#6" class="mim-tip-reference" title="Forsius, H., Eriksson, A. W. <strong>Ein neues Augensyndrom mit X-chromosomaler Transmission: eine Sippe mit Fundusalbinismus, Foveahypoplasie, Nystagmus, Myopie, Astigmatismus und Dyschromatopsie.</strong> Klin. Monatsbl. Augenheilkd. 144: 447-457, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14230113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14230113</a>]" pmid="14230113">Forsius and Eriksson (1964)</a>, <a href="#11" class="mim-tip-reference" title="Jalkanen, R., Bech-Hansen, N. T., Tobias, R., Sankila, E.-M., Mantyjarvi, M., Forsius, H., de la Chapelle, A., Alitalo, T. <strong>A novel CACNA1F gene mutation causes Aland Island eye disease.</strong> Invest. Ophthal. Vis. Sci. 48: 2498-2502, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17525176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17525176</a>] [<a href="https://doi.org/10.1167/iovs.06-1103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17525176">Jalkanen et al. (2007)</a> identified homozygosity for a 425-bp deletion mutation encompassing exon 30 and portions of adjacent introns of the CACNA1F gene (<a href="#0008">300110.0008</a>). The mutation was found in heterozygous state in carrier females of this family and was not found in samples from 121 Finnish male control subjects. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17525176+14230113" 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="#16" class="mim-tip-reference" title="Mansergh, F., Orton, N. C., Vessey, J. P., Lalonde, M. R., Stell, W. K., Tremblay, F., Barnes, S., Rancourt, D. E., Bech-Hansen, N. T. <strong>Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.</strong> Hum. Molec. Genet. 14: 3035-3046, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16155113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16155113</a>] [<a href="https://doi.org/10.1093/hmg/ddi336" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16155113">Mansergh et al. (2005)</a> generated a mouse with a loss-of-function mutation in exon 7 of the mouse Cacna1f gene. Electroretinography of the mutant mouse revealed a scotopic a-wave of marginally reduced amplitude compared with the wildtype mouse and absence of the postreceptoral b-wave and oscillatory potentials. Cone ERG responses together with visual evoked potentials and multi-unit activity in the superior colliculus were also absent. Calcium imaging of retinal slices depolarized with KCl showed 90% less peak signal in the photoreceptor synapses of the Cacna1f mutant than in wildtype mice. The absence of postreceptoral ERG responses and the diminished photoreceptor calcium signals were consistent with a loss of Ca(2+) channel function in photoreceptors. Immunocytochemistry showed no detectable Cav1.4 protein in the outer plexiform layer of Cacna1f-mutant mice, profound loss of photoreceptor synapses, and abnormal dendritic sprouting of second-order neurons in the photoreceptor layer. <a href="#16" class="mim-tip-reference" title="Mansergh, F., Orton, N. C., Vessey, J. P., Lalonde, M. R., Stell, W. K., Tremblay, F., Barnes, S., Rancourt, D. E., Bech-Hansen, N. T. <strong>Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.</strong> Hum. Molec. Genet. 14: 3035-3046, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16155113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16155113</a>] [<a href="https://doi.org/10.1093/hmg/ddi336" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16155113">Mansergh et al. (2005)</a> concluded that the Cav1.4 calcium channel is vital for the functional assembly and/or maintenance and synaptic functions of photoreceptor ribbon synapses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16155113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a large-scale mutagenesis screen for defects in visual behavior in zebrafish, <a href="#14" class="mim-tip-reference" title="Jia, S., Muto, A., Orisme, W., Henson, H. E., Parupalli, C., Ju, B., Baier, H., Taylor, M. R. <strong>Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation.</strong> Hum. Molec. Genet. 23: 2981-2994, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24419318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24419318</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24419318[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/ddu009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24419318">Jia et al. (2014)</a> identified the 'wait until dark' (wud) mutant and isolated 5 wud alleles. Wud mutants were viable but displayed complete loss of sight. Compared with wildtype, wud mutants showed thinning of the outer plexiform layer of the retina and had ERGs consistent with defective synaptic transmission from cone photoreceptors. Transmission electron microscopy revealed complete absence of synaptic ribbons and mislocalization of the synaptic ribbon protein ribeye (CTBP2; <a href="/entry/602619">602619</a>) in wud mutants. Using a positional cloning strategy and sequence analysis, <a href="#14" class="mim-tip-reference" title="Jia, S., Muto, A., Orisme, W., Henson, H. E., Parupalli, C., Ju, B., Baier, H., Taylor, M. R. <strong>Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation.</strong> Hum. Molec. Genet. 23: 2981-2994, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24419318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24419318</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24419318[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/ddu009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24419318">Jia et al. (2014)</a> discovered mutations in 1 of the 2 zebrafish CACNA1F orthologs, cacna1fa, in the 2 wud alleles examined. Both mutations introduced premature stop codons and produced null alleles. <a href="#14" class="mim-tip-reference" title="Jia, S., Muto, A., Orisme, W., Henson, H. E., Parupalli, C., Ju, B., Baier, H., Taylor, M. R. <strong>Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation.</strong> Hum. Molec. Genet. 23: 2981-2994, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24419318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24419318</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24419318[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/ddu009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24419318">Jia et al. 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<strong>.0001 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A</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">rs122456133 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs122456133;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=rs122456133" 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=rs122456133" 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=RCV000012380" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012380" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012380</a>
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<p>One of the missense mutations identified by <a href="#20" class="mim-tip-reference" title="Strom, T. M., Nyakatura, G., Apfelstedt-Sylla, E., Hellebrand, H., Lorenz, B., Weber, B. H. F., Wutz, K., Gutwillinger, N., Ruther, K., Drescher, B., Sauer, C., Zrenner, E., Meitinger, T., Rosenthal, A., Meindl, A. <strong>An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.</strong> Nature Genet. 19: 260-263, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662399</a>] [<a href="https://doi.org/10.1038/940" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662399">Strom et al. (1998)</a> in cases of incomplete X-linked congenital stationary night blindness (CSNB2A; <a href="/entry/300071">300071</a>) was a gly369-to-asp (G369D) amino acid substitution resulting from a transition of nucleotide 1106 in exon 8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662399" 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="0002" class="mim-anchor"></a>
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<strong>.0002 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A</strong>
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CACNA1F, ARG958TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs122456134 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs122456134;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=rs122456134" 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=rs122456134" 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=RCV000012381 OR RCV000504913 OR RCV001073304 OR RCV001388118 OR RCV004730844" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012381, RCV000504913, RCV001073304, RCV001388118, RCV004730844" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012381...</a>
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<p>One of the nonsense mutations identified in families with incomplete X-linked congenital stationary night blindness (CSNB2A; <a href="/entry/300071">300071</a>) by <a href="#20" class="mim-tip-reference" title="Strom, T. M., Nyakatura, G., Apfelstedt-Sylla, E., Hellebrand, H., Lorenz, B., Weber, B. H. F., Wutz, K., Gutwillinger, N., Ruther, K., Drescher, B., Sauer, C., Zrenner, E., Meitinger, T., Rosenthal, A., Meindl, A. <strong>An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.</strong> Nature Genet. 19: 260-263, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662399</a>] [<a href="https://doi.org/10.1038/940" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662399">Strom et al. (1998)</a> was an arg958-to-ter (R958X) mutation due to a C-to-T transition of nucleotide 2172 in exon 24. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662399" 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="0003" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0003 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A</strong>
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CACNA1F, 1-BP INS, 991C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80359870 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80359870;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=rs80359870" 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=rs80359870" 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=RCV000020629 OR RCV000790658 OR RCV003398551 OR RCV004814910" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020629, RCV000790658, RCV003398551, RCV004814910" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020629...</a>
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</span>
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<p>In 15 families with congenital stationary night blindness type 2A (CSNB2A; <a href="/entry/300071">300071</a>) and the common Mennonite haplotype, suggesting that these families share a founder mutation (<a href="#4" class="mim-tip-reference" title="Boycott, K. M., Pearce, W. G., Musarella, M. A., Weleber, R. G., Maybaum, T. A., Birch, D. G., Miyake, Y., Young, R. S. L., Bech-Hansen, N. T. <strong>Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.</strong> Am. J. Hum. Genet. 62: 865-875, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529339</a>] [<a href="https://doi.org/10.1086/301781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529339">Boycott et al. (1998)</a>), <a href="#2" class="mim-tip-reference" title="Bech-Hansen, N. T., Naylor, M. J., Maybaum, T. A., Pearce, W. G., Koop, B., Fishman, G. A., Mets, M., Musarella, M. A., Boycott, K. M. <strong>Loss-of-function mutations in a calcium-channel alpha-1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.</strong> Nature Genet. 19: 264-267, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662400</a>] [<a href="https://doi.org/10.1038/947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662400">Bech-Hansen et al. (1998)</a> found insertion of a single C nucleotide at codon 991 for leucine (L991insC). The insertion caused a frameshift with stop codon 1001. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9529339+9662400" 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="0004" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0004 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A</strong>
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CACNA1F, ARG830TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs122456135 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs122456135;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=rs122456135" 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=rs122456135" 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=RCV000012383 OR RCV001002915 OR RCV001699019" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012383, RCV001002915, RCV001699019" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012383...</a>
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<p>Among families with congenital stationary night blindness type 2A (CSNB2A; <a href="/entry/300071">300071</a>), one of the truncating mutations found by <a href="#2" class="mim-tip-reference" title="Bech-Hansen, N. T., Naylor, M. J., Maybaum, T. A., Pearce, W. G., Koop, B., Fishman, G. A., Mets, M., Musarella, M. A., Boycott, K. M. <strong>Loss-of-function mutations in a calcium-channel alpha-1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.</strong> Nature Genet. 19: 264-267, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662400</a>] [<a href="https://doi.org/10.1038/947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662400">Bech-Hansen et al. (1998)</a> was a C-to-T transition in exon 21 of the CACNA1F gene, resulting in an arg830-to-ter (R830X) nonsense amino acid change. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662400" 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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<h4>
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<span class="mim-font">
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<strong>.0005 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A</strong>
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CACNA1F, 1-BP DEL, 4548C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2147895629 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2147895629;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=rs2147895629" 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=rs2147895629" 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=RCV000012384" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012384" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012384</a>
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<p>In 2 affected members of a French family segregating X-linked congenital stationary night blindness type 2A (CSNB2A; <a href="/entry/300071">300071</a>), <a href="#10" class="mim-tip-reference" title="Jacobi, F. K., Hamel, C. P., Arnaud, B., Blin, N., Broghammer, M., Jacobi, P. C., Apfelstedt-Sylla, E., Pusch, C. M. <strong>A novel CACNA1F mutation in a French family with the incomplete type of X-linked congenital stationary night blindness.</strong> Am. J. Ophthal. 135: 733-736, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12719097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12719097</a>] [<a href="https://doi.org/10.1016/s0002-9394(02)02109-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12719097">Jacobi et al. (2003)</a> identified a 1-bp deletion (C) at nucleotide 4548 in the CACNA1F gene, resulting in a frameshift with a predicted premature termination at codon 1524. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12719097" 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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<strong>.0006 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE</strong>
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CACNA1F, ILE745THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs122456136 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs122456136;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=rs122456136" 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=rs122456136" 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=RCV000012385 OR RCV002512984" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012385, RCV002512984" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012385...</a>
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<p><a href="#8" class="mim-tip-reference" title="Hemara-Wahanui, A., Berjukow, S., Hope, C. I., Dearden, P. K., Wu, S.-B., Wilson-Wheeler, J., Sharp, D. M., Lundon-Treweek, P., Clover, G. M., Hoda, J.-C., Striessnig, J., Marksteiner, R., Hering, S., Maw, M. A. <strong>A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Ca(v)1.4 channel activation.</strong> Proc. Nat. Acad. Sci. 102: 7553-7558, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15897456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15897456</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15897456[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0501907102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15897456">Hemara-Wahanui et al. (2005)</a> identified a C-to-T transition at nucleotide 2234 in exon 17 of the CACNA1F gene in a New Zealand family with a retinal disorder similar to, but more severe than, X-linked congenital stationary night blindness-2 (CSNB2A; <a href="/entry/300071">300071</a>). The transition resulted in the substitution of a conserved isoleucine with threonine at residue 745 (I745T) within transmembrane segment IIS6. Affected males had congenital nystagmus, decreased visual acuity, frequent hypermetropia, and normal fundi. Female family members had congenital nystagmus, decreased visual acuity, and frequent high myopia, in contrast to typical CSNB2A families, in which female heterozygotes are unaffected. Electroretinography showed CSNB2A-like features in males and similar, but less severe, features in females. In addition, some visually impaired males had intellectual impairment and were autistic. <a href="#8" class="mim-tip-reference" title="Hemara-Wahanui, A., Berjukow, S., Hope, C. I., Dearden, P. K., Wu, S.-B., Wilson-Wheeler, J., Sharp, D. M., Lundon-Treweek, P., Clover, G. M., Hoda, J.-C., Striessnig, J., Marksteiner, R., Hering, S., Maw, M. A. <strong>A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Ca(v)1.4 channel activation.</strong> Proc. Nat. Acad. Sci. 102: 7553-7558, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15897456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15897456</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15897456[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0501907102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15897456">Hemara-Wahanui et al. (2005)</a> found that the I745T mutation caused altered channel activity following expression in human embryonic kidney cells. The channel showed a dramatic shift of about -30 mV in the voltage dependence of activation and significantly slower inactivation kinetics. <a href="#8" class="mim-tip-reference" title="Hemara-Wahanui, A., Berjukow, S., Hope, C. I., Dearden, P. K., Wu, S.-B., Wilson-Wheeler, J., Sharp, D. M., Lundon-Treweek, P., Clover, G. M., Hoda, J.-C., Striessnig, J., Marksteiner, R., Hering, S., Maw, M. A. <strong>A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Ca(v)1.4 channel activation.</strong> Proc. Nat. Acad. Sci. 102: 7553-7558, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15897456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15897456</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15897456[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0501907102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15897456">Hemara-Wahanui et al. (2005)</a> concluded that the I745T mutation increases the number of mutant channels open at physiologic membrane potential and allows for persistent Ca(2+) entry due to reduced channel inactivation, resulting in a gain-of-function defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15897456" 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">rs863223294 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863223294;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=rs863223294" 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=rs863223294" 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=RCV000012386" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012386" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012386</a>
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<p>In a large Finnish family with X-linked cone-rod dystrophy-3 (CORDX3; <a href="/entry/300476">300476</a>), previously reported by <a href="#17" class="mim-tip-reference" title="Mantyjarvi, M., Nurmenniemi, P., Partanen, J., Myohanen, T., Peippo, M., Alitalo, T. <strong>Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy.</strong> Acta Ophthal. Scand. 79: 359-365, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11453854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11453854</a>] [<a href="https://doi.org/10.1034/j.1600-0420.2001.079004359.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11453854">Mantyjarvi et al. (2001)</a>, <a href="#13" class="mim-tip-reference" title="Jalkanen, R., Mantyjarvi, M., Tobias, R., Isosomppi, J., Sankila, E.-M., Alitalo, T., Bech-Hansen, N. T. <strong>X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. (Letter)</strong> J. Med. Genet. 43: 699-704, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16505158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16505158</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16505158[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/10.1136/jmg.2006.040741" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16505158">Jalkanen et al. (2006)</a> identified a deletion/insertion (IVS28-1 GCGTC-TGG) at -1 position in the splice acceptor site of intron 28 of the CACNA1F gene. The mutation cosegregated completely with the disease phenotype in the family, which included 7 affected males, 10 carrier females, and 33 unaffected family members; it was not found in 200 control chromosomes. RNA studies revealed that the mutation caused altered splicing of the CACNA1F transcript, resulting in 5 variants with predicted premature termination and exonic deletions of the encoded protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11453854+16505158" 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">rs2147900556 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2147900556;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=rs2147900556" 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=rs2147900556" 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=RCV000012387" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012387" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012387</a>
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<p>In affected members of the original family with Aland Island eye disease (<a href="/entry/300600">300600</a>) described by <a href="#6" class="mim-tip-reference" title="Forsius, H., Eriksson, A. W. <strong>Ein neues Augensyndrom mit X-chromosomaler Transmission: eine Sippe mit Fundusalbinismus, Foveahypoplasie, Nystagmus, Myopie, Astigmatismus und Dyschromatopsie.</strong> Klin. Monatsbl. Augenheilkd. 144: 447-457, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14230113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14230113</a>]" pmid="14230113">Forsius and Eriksson (1964)</a>, <a href="#11" class="mim-tip-reference" title="Jalkanen, R., Bech-Hansen, N. T., Tobias, R., Sankila, E.-M., Mantyjarvi, M., Forsius, H., de la Chapelle, A., Alitalo, T. <strong>A novel CACNA1F gene mutation causes Aland Island eye disease.</strong> Invest. Ophthal. Vis. Sci. 48: 2498-2502, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17525176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17525176</a>] [<a href="https://doi.org/10.1167/iovs.06-1103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17525176">Jalkanen et al. (2007)</a> identified homozygosity for a 425-bp deletion mutation encompassing exon 30 and portions of adjacent introns of the CACN1F gene. The mutation was found in heterozygous state in carrier females of this family and was not found in samples from 121 Finnish male control subjects. The mutation is predicted to cause a deletion of the transmembrane domain IVS2 and the preceding extracellular loop and consequently an altered membrane topology for the C-terminal part of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17525176+14230113" 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">rs863225090 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863225090;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=rs863225090" 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=rs863225090" 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=RCV000201353" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000201353" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000201353</a>
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<p>In a Chinese male proband with cone-rod dystrophy (CORDX3; <a href="/entry/300476">300476</a>), <a href="#9" class="mim-tip-reference" title="Huang, L., Zhang, Q., Li, S., Guan, L., Xiao, X., Zhang, J., Jia, X., Sun, W., Zhu, Z., Gao, Y., Yin, Y., Wang, P., Guo, X., Wang, J., Zhang, Q. <strong>Exome sequencing of 47 Chinese families with cone-rod dystrophy: mutations in 25 known causative genes.</strong> PLoS One 8: e65546, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23776498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23776498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23776498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0065546" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23776498">Huang et al. (2013)</a> identified hemizygosity for a c.2542G-A transition (c.2542G-A, NM_005183.2) in the CACNA1F gene, resulting in a gly848-to-ser (G848S) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23776498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000201391" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000201391" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000201391</a>
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<p>In affected male members over 3 generations of a large German family with slowly progressive cone-rod dystrophy (CORDX3; <a href="/entry/300476">300476</a>), <a href="#7" class="mim-tip-reference" title="Hauke, J., Schild, A., Neugebauer, A., Lappa, A., Fricke, J., Fauser, S., Rosler, S., Pannes, A., Zarrinnam, D., Altmuller, J., Motameny, S., Nurnberg, G., Nurnberg, P., Hahnen, E., Beck, B. B. <strong>A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.</strong> PLoS One 8: e76414, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24124559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24124559</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24124559[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0076414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24124559">Hauke et al. (2013)</a> identified hemizygosity for a large intragenic in-frame deletion encompassing exons 18 to 26 of the CACNA1F gene (EX18-27del, NM_005183.2). The deletion is flanked by AluSx repeat sequences on both sides, suggesting that it results from Alu-Alu repeat-mediated nonhomologous recombination. Sequencing of truncated transcripts from affected individuals revealed the aberrant junction of exon 17 to exon 27, representing the loss of 267 amino acids (residues 77-1041), including 4 transmembrane helices within the homologous domain III. The deletion segregated with disease in the family, with asymptomatic female carriers being heterozygous for the deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24124559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1086/301781" target="_blank">Full Text</a>]
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<strong>A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.</strong>
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[<a href="https://doi.org/10.1371/journal.pone.0076414" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.0501907102" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1371/journal.pone.0065546" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0002-9394(02)02109-8" target="_blank">Full Text</a>]
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Jalkanen, R., Bech-Hansen, N. T., Tobias, R., Sankila, E.-M., Mantyjarvi, M., Forsius, H., de la Chapelle, A., Alitalo, T.
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[<a href="https://doi.org/10.1167/iovs.06-1103" target="_blank">Full Text</a>]
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Jalkanen, R., Demirci, F. Y., Tyynismaa, H., Bech-Hansen, T., Meindl, A., Peippo, M., Mantyjarvi, M., Gorin, M. B., Alitalo, T.
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<strong>A new genetic locus for X linked progressive cone-rod dystrophy.</strong>
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J. Med. Genet. 40: 418-423, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12807962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12807962</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12807962" 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/10.1136/jmg.40.6.418" target="_blank">Full Text</a>]
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Jalkanen, R., Mantyjarvi, M., Tobias, R., Isosomppi, J., Sankila, E.-M., Alitalo, T., Bech-Hansen, N. T.
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<strong>X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. (Letter)</strong>
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[<a href="https://doi.org/10.1136/jmg.2006.040741" target="_blank">Full Text</a>]
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<a id="Jia2014" class="mim-anchor"></a>
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Jia, S., Muto, A., Orisme, W., Henson, H. E., Parupalli, C., Ju, B., Baier, H., Taylor, M. R.
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<strong>Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation.</strong>
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Hum. Molec. Genet. 23: 2981-2994, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24419318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24419318</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24419318[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24419318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddu009" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Liu2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liu, X., Yang, P. S., Yang, W., Yue, D. T.
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|
<strong>Enzyme-inhibitor-like tuning of Ca(2+) channel connectivity with calmodulin.</strong>
|
|
Nature 463: 968-972, 2010. Note: Erratum: Nature 464: 1390 only, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20139964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20139964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20139964[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20139964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature08766" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Mansergh2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mansergh, F., Orton, N. C., Vessey, J. P., Lalonde, M. R., Stell, W. K., Tremblay, F., Barnes, S., Rancourt, D. E., Bech-Hansen, N. T.
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<strong>Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.</strong>
|
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Hum. Molec. Genet. 14: 3035-3046, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16155113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16155113</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16155113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddi336" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Mantyjarvi2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mantyjarvi, M., Nurmenniemi, P., Partanen, J., Myohanen, T., Peippo, M., Alitalo, T.
|
|
<strong>Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy.</strong>
|
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Acta Ophthal. Scand. 79: 359-365, 2001.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11453854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11453854</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11453854" 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/10.1034/j.1600-0420.2001.079004359.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Nakamura2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Nakamura, M., Ito, S., Piao, C-H., Terasaki, H., Miyake, Y.
|
|
<strong>Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family.</strong>
|
|
Arch. Ophthal. 121: 1028-1033, 2003.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12860808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12860808</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12860808" 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/10.1001/archopht.121.7.1028" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Naylor2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Naylor, M. J., Rancourt, D. E., Bech-Hansen, N. T.
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<strong>Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness.</strong>
|
|
Genomics 66: 324-327, 2000.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10873387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10873387</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10873387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.2000.6204" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Strom1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Strom, T. M., Nyakatura, G., Apfelstedt-Sylla, E., Hellebrand, H., Lorenz, B., Weber, B. H. F., Wutz, K., Gutwillinger, N., Ruther, K., Drescher, B., Sauer, C., Zrenner, E., Meitinger, T., Rosenthal, A., Meindl, A.
|
|
<strong>An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.</strong>
|
|
Nature Genet. 19: 260-263, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662399</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/940" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Wutz2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wutz, K., Sauer, C., Zrenner, E., Lorenz, B., Alitalo, T., Broghammer, M., Hergersberg, M., de la Chapelle, A., Weber, B. H. F., Wissinger, B., Meindl, A., Pusch, C. M.
|
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<strong>Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.</strong>
|
|
Europ. J. Hum. Genet. 10: 449-456, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12111638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12111638</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12111638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200828" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/28/2015
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 8/8/2014<br>Ada Hamosh - updated : 4/22/2010<br>George E. Tiller - updated : 5/13/2009<br>Jane Kelly - updated : 10/31/2007<br>Marla J. F. O'Neill - updated : 8/31/2006<br>Patricia A. Hartz - updated : 6/23/2005<br>Jane Kelly - updated : 2/23/2004<br>Jane Kelly - updated : 8/19/2003<br>Michael B. Petersen - updated : 6/13/2003<br>Victor A. McKusick - updated : 3/13/2001<br>Victor A. McKusick - updated : 6/23/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 12/11/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/26/2024
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
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carol : 10/28/2015<br>carol : 10/28/2015<br>carol : 7/20/2015<br>carol : 5/22/2015<br>mcolton : 5/21/2015<br>mgross : 8/11/2014<br>mcolton : 8/8/2014<br>terry : 11/16/2010<br>alopez : 6/17/2010<br>alopez : 4/26/2010<br>terry : 4/22/2010<br>wwang : 6/25/2009<br>terry : 5/13/2009<br>terry : 9/10/2008<br>carol : 10/31/2007<br>carol : 10/31/2007<br>wwang : 9/1/2006<br>terry : 8/31/2006<br>mgross : 7/14/2005<br>mgross : 7/14/2005<br>mgross : 7/14/2005<br>terry : 6/23/2005<br>tkritzer : 8/12/2004<br>tkritzer : 2/23/2004<br>carol : 11/5/2003<br>carol : 8/19/2003<br>cwells : 6/13/2003<br>cwells : 3/23/2001<br>terry : 3/13/2001<br>alopez : 11/15/1999<br>alopez : 6/29/1998<br>terry : 6/23/1998<br>mark : 12/11/1997<br>mark : 12/11/1997
|
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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>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 300110
|
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</span>
|
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</h3>
|
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</div>
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<div>
|
|
<h3>
|
|
<span class="mim-font">
|
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|
|
CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F
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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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: CACNA1F</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">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: Xp11.23
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : X:49,205,063-49,233,340 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
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<br />
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
Xp11.23
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Aland Island eye disease
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
300600
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Cone-rod dystrophy, X-linked, 3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
300476
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Night blindness, congenital stationary (incomplete), 2A, X-linked
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
300071
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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|
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|
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|
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|
<div>
|
|
<br />
|
|
</div>
|
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|
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|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
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|
|
<span class="mim-text-font">
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<p>The human Xp11.23-p11.22 interval is involved in several hereditary diseases. Fisher et al. (1997) noted that in constructing YAC contigs spanning this region, it was found that the region of Xp surrounding the synaptophysin gene (SYP; 313475) was refractory to cloning in YACs, but highly stable in cosmids. Preliminary analysis of the cosmid suggested a high density of coding sequences and prompted complete sequencing of an SYP-containing cosmid. Fisher et al. (1997) identified 29 putative exons organized into 3 genes, in addition to the 7 exons of the complete SYP coding region, all mapping within a 44-kb interval. Two genes were novel: one (CACNA1F) shows high homology to alpha-1 subunits of calcium channels (see CACNA2; 114204), whereas the other (LMO6; 300111) encodes a product with significant similarity to LIM-domain proteins. RT-PCR and Northern blot studies confirmed that these loci were indeed transcribed. The third locus (A4; 300112) had been previously described but not localized to a specific chromosomal site. The region has an elevated GC content (more than 53%), and Fisher et al. (1997) identified CpG islands associated with the 5-prime ends of SYP, A4, and LMO6. </p><p>Naylor et al. (2000) cloned the mouse Cacna1f gene. The deduced 1,985-amino acid channel protein shares 90% identity with the 1,977-amino acid human protein, with almost perfect conservation between the functional domains and only a single amino acid substitution within the transmembrane segments. RT-PCR of several mouse tissues detected Cacna1f expression only in eye. In situ hybridization detected Cacna1f in the outer nuclear layer, the inner nuclear layer, and the ganglion cell layer of mouse retina. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>To study the electrophysiologic and pharmacologic properties of the L-type calcium channel CACNA1F, Baumann et al. (2004) cloned and functionally expressed the complete Cacna1f cDNA from the mouse retina. The data indicated that CACNA1F constitutes the major molecular correlate of the retinal L-type calcium current. Its intrinsic biophysical properties, in particular its unique inactivation properties, enable it to provide a sustained calcium current over the voltage range required for tonic glutamate release at the photoreceptor synapse. </p><p>Liu et al. (2010) combined electrophysiology to characterize channel regulation with optical fluorescence resonance energy transfer sensor determination of free-apocalmodulin (CALM1; 114180) concentration in live cells. This approach translates quantitative calmodulin biochemistry from the traditional test-tube context into the realm of functioning holochannels within intact cells. From this perspective, Liu et al. (2010) found that long splice forms of Ca(V)1.3 (CACNA1D; 114206) and Ca(V)1.4 (CACNA1F) channels include a distal carboxy tail that resembles an enzyme competitive inhibitor that retunes channel affinity for apocalmodulin such that natural calmodulin variations affect the strength of Ca(2+) feedback modulation. Given the ubiquity of these channels, the connection between ambient calmodulin levels and Ca(2+) entry through channels is broadly significant for Ca(2+) homeostasis. </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>Fisher et al. (1997) determined that the order of loci in the Xp11.23-p11.22 interval is Xpter-A4-LMO6-SYP-CACNA1F-Xcen, with intergenic distances ranging from approximately 300 bp to approximately 5 kb. The density of transcribed sequences in this area (more than 80%) is comparable to that found in the highly gene-rich band Xq28. </p><p>Naylor et al. (2000) mapped the mouse Cacna1f gene to a region of the X chromosome that shows homology of synteny to human chromosome Xp11.23. </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><strong><em>Incomplete Congenital Stationary Night Blindness, Type 2A</em></strong></p><p>
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By mutation analysis in 13 families with the incomplete form of X-linked congenital stationary night blindness (CSNB2A; 300071), Strom et al. (1998) identified 9 different mutations in 10 families, including 3 nonsense and 1 frameshift mutation. Similarly, by mutation analysis of the CACNA1F gene in 20 families with incomplete CSNB, Bech-Hansen et al. (1998) found 6 different mutations, all of which predicted premature protein truncation. </p><p>Boycott et al. (2001) summarized 20 CACNA1F mutations that had been identified in 36 families with incomplete X-linked congenital stationary night blindness. Three of the mutations accounted for incomplete CSNB in 2 or more families, and a founder effect was demonstrable for one of these mutations. Of the 20 mutations identified, 14 (70%) were predicted to cause premature protein truncation and 6 (30%) to cause amino acid substitutions or deletions at conserved positions in the alpha-1F protein. </p><p>Wutz et al. (2002) reported comprehensive mutation analysis of the 48 exons of the CACNA1F gene in 34 unrelated cases (33 families and 1 sporadic case) diagnosed with the incomplete form of X-linked congenital stationary night blindness, based on ERG data and dark adaptation tests. Ten of the families had been partially characterized previously (Strom et al., 1998). The patients were of German (32), Belgian (1), and French (1) origin. Mutation analysis was also performed in 2 patients with an Aland Island disease (300600)-related phenotype. A total of 30 different mutations (20 of which were novel) were identified in 33 patients, 31 CSNB2 familial cases, and the 2 patients with an AIED-like phenotype. Reevaluation of the AIED-like phenotype indicated full compatibility of the patients' ophthalmologic findings with CSNB2. The mutations were equally distributed over the entire gene sequence and included 13 missense, 8 nonsense, 5 splice site, 3 deletion, and 1 insertion mutations. RT-PCR experiments in mouse strains with photoreceptor degeneration showed that the Cacna1f gene is not exclusively expressed in photoreceptors but in the outer nuclear, the inner nuclear, and the ganglion cell layer as well. </p><p>Nakamura et al. (2003) described 2 Japanese brothers with retinal and optic disc atrophy and progressive decrease of visual function with increasing age. Although these clinical features are atypical of patients with incomplete CSNB, both patients had an in-frame mutation with deletion and insertion in exon 4 of the CACNA1F gene. In both patients, the bright flash, mixed rod-cone ERG had a negative configuration, characteristic of incomplete CSNB. However, the full-field scotopic and photopic ERGs were nonrecordable, indicating severe, diffuse retinal malfunction, not typical of incomplete CSNB. These findings underscored the phenotypic variability of incomplete CSNB. </p><p>Hemara-Wahanui et al. (2005) identified an ile745-to-thr mutation (I745T; 300110.0006) in the CACNA1F gene in a New Zealand family with a visual disorder more severe than typical CSNB2. </p><p><strong><em>Cone-Rod Dystrophy 3</em></strong></p><p>
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In a large Finnish family with X-linked cone-rod dystrophy-3 (CORDX3; 300476), originally described by Mantyjarvi et al. (2001), Jalkanen et al. (2006) identified a splice site mutation in the CACNA1F gene (300110.0007). </p><p>By whole-exome sequencing in 47 Chinese probands with CORD, Huang et al. (2013) identified 1 male proband with a missense mutation in the CACNA1F gene (G848S; 300110.0009). </p><p>In affected males and unaffected female carriers from a large German family with cone-rod dystrophy mapping to chromosome Xp11.3-p11.23, Hauke et al. (2013) identified hemizygosity or heterozygosity, respectively, for a large in-frame deletion encompassing exons 18 to 26 of the CACNA1F gene (300110.0010). </p><p><strong><em>Aland Island Eye Disease</em></strong></p><p>
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In affected members of the original family with Aland Island eye disease (300600) described by Forsius and Eriksson (1964), Jalkanen et al. (2007) identified homozygosity for a 425-bp deletion mutation encompassing exon 30 and portions of adjacent introns of the CACNA1F gene (300110.0008). The mutation was found in heterozygous state in carrier females of this family and was not found in samples from 121 Finnish male control subjects. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Mansergh et al. (2005) generated a mouse with a loss-of-function mutation in exon 7 of the mouse Cacna1f gene. Electroretinography of the mutant mouse revealed a scotopic a-wave of marginally reduced amplitude compared with the wildtype mouse and absence of the postreceptoral b-wave and oscillatory potentials. Cone ERG responses together with visual evoked potentials and multi-unit activity in the superior colliculus were also absent. Calcium imaging of retinal slices depolarized with KCl showed 90% less peak signal in the photoreceptor synapses of the Cacna1f mutant than in wildtype mice. The absence of postreceptoral ERG responses and the diminished photoreceptor calcium signals were consistent with a loss of Ca(2+) channel function in photoreceptors. Immunocytochemistry showed no detectable Cav1.4 protein in the outer plexiform layer of Cacna1f-mutant mice, profound loss of photoreceptor synapses, and abnormal dendritic sprouting of second-order neurons in the photoreceptor layer. Mansergh et al. (2005) concluded that the Cav1.4 calcium channel is vital for the functional assembly and/or maintenance and synaptic functions of photoreceptor ribbon synapses. </p><p>Using a large-scale mutagenesis screen for defects in visual behavior in zebrafish, Jia et al. (2014) identified the 'wait until dark' (wud) mutant and isolated 5 wud alleles. Wud mutants were viable but displayed complete loss of sight. Compared with wildtype, wud mutants showed thinning of the outer plexiform layer of the retina and had ERGs consistent with defective synaptic transmission from cone photoreceptors. Transmission electron microscopy revealed complete absence of synaptic ribbons and mislocalization of the synaptic ribbon protein ribeye (CTBP2; 602619) in wud mutants. Using a positional cloning strategy and sequence analysis, Jia et al. (2014) discovered mutations in 1 of the 2 zebrafish CACNA1F orthologs, cacna1fa, in the 2 wud alleles examined. Both mutations introduced premature stop codons and produced null alleles. Jia et al. (2014) noted that the zebrafish cacna1fa and cacna1fb genes are expressed in the photoreceptor layer and inner retina, respectively, in contrast with the single mouse and human CACNA1F genes, which are expressed throughout many layers of the retina. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>10 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A</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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CACNA1F, GLY369ASP
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<br />
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SNP: rs122456133,
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ClinVar: RCV000012380
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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>One of the missense mutations identified by Strom et al. (1998) in cases of incomplete X-linked congenital stationary night blindness (CSNB2A; 300071) was a gly369-to-asp (G369D) amino acid substitution resulting from a transition of nucleotide 1106 in exon 8. </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 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A</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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CACNA1F, ARG958TER
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<br />
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SNP: rs122456134,
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ClinVar: RCV000012381, RCV000504913, RCV001073304, RCV001388118, RCV004730844
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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>One of the nonsense mutations identified in families with incomplete X-linked congenital stationary night blindness (CSNB2A; 300071) by Strom et al. (1998) was an arg958-to-ter (R958X) mutation due to a C-to-T transition of nucleotide 2172 in exon 24. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0003 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A</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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CACNA1F, 1-BP INS, 991C
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<br />
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SNP: rs80359870,
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ClinVar: RCV000020629, RCV000790658, RCV003398551, RCV004814910
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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 15 families with congenital stationary night blindness type 2A (CSNB2A; 300071) and the common Mennonite haplotype, suggesting that these families share a founder mutation (Boycott et al. (1998)), Bech-Hansen et al. (1998) found insertion of a single C nucleotide at codon 991 for leucine (L991insC). The insertion caused a frameshift with stop codon 1001. </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>.0004 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A</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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CACNA1F, ARG830TER
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<br />
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SNP: rs122456135,
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ClinVar: RCV000012383, RCV001002915, RCV001699019
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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>Among families with congenital stationary night blindness type 2A (CSNB2A; 300071), one of the truncating mutations found by Bech-Hansen et al. (1998) was a C-to-T transition in exon 21 of the CACNA1F gene, resulting in an arg830-to-ter (R830X) nonsense amino acid change. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0005 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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CACNA1F, 1-BP DEL, 4548C
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<br />
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SNP: rs2147895629,
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ClinVar: RCV000012384
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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 2 affected members of a French family segregating X-linked congenital stationary night blindness type 2A (CSNB2A; 300071), Jacobi et al. (2003) identified a 1-bp deletion (C) at nucleotide 4548 in the CACNA1F gene, resulting in a frameshift with a predicted premature termination at codon 1524. </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>.0006 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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|
<span class="mim-text-font">
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CACNA1F, ILE745THR
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<br />
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|
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SNP: rs122456136,
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|
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ClinVar: RCV000012385, RCV002512984
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Hemara-Wahanui et al. (2005) identified a C-to-T transition at nucleotide 2234 in exon 17 of the CACNA1F gene in a New Zealand family with a retinal disorder similar to, but more severe than, X-linked congenital stationary night blindness-2 (CSNB2A; 300071). The transition resulted in the substitution of a conserved isoleucine with threonine at residue 745 (I745T) within transmembrane segment IIS6. Affected males had congenital nystagmus, decreased visual acuity, frequent hypermetropia, and normal fundi. Female family members had congenital nystagmus, decreased visual acuity, and frequent high myopia, in contrast to typical CSNB2A families, in which female heterozygotes are unaffected. Electroretinography showed CSNB2A-like features in males and similar, but less severe, features in females. In addition, some visually impaired males had intellectual impairment and were autistic. Hemara-Wahanui et al. (2005) found that the I745T mutation caused altered channel activity following expression in human embryonic kidney cells. The channel showed a dramatic shift of about -30 mV in the voltage dependence of activation and significantly slower inactivation kinetics. Hemara-Wahanui et al. (2005) concluded that the I745T mutation increases the number of mutant channels open at physiologic membrane potential and allows for persistent Ca(2+) entry due to reduced channel inactivation, resulting in a gain-of-function defect. </p>
|
|
</span>
|
|
</div>
|
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<div>
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<br />
|
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</div>
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</div>
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<div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CONE-ROD DYSTROPHY, X-LINKED, 3</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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CACNA1F, 5-BP DEL/3-BP INS
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<br />
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|
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SNP: rs863223294,
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ClinVar: RCV000012386
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a large Finnish family with X-linked cone-rod dystrophy-3 (CORDX3; 300476), previously reported by Mantyjarvi et al. (2001), Jalkanen et al. (2006) identified a deletion/insertion (IVS28-1 GCGTC-TGG) at -1 position in the splice acceptor site of intron 28 of the CACNA1F gene. The mutation cosegregated completely with the disease phenotype in the family, which included 7 affected males, 10 carrier females, and 33 unaffected family members; it was not found in 200 control chromosomes. RNA studies revealed that the mutation caused altered splicing of the CACNA1F transcript, resulting in 5 variants with predicted premature termination and exonic deletions of the encoded protein. </p>
|
|
</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>.0008 ALAND ISLAND EYE DISEASE</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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CACNA1F, 425-BP DEL
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<br />
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SNP: rs2147900556,
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ClinVar: RCV000012387
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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 affected members of the original family with Aland Island eye disease (300600) described by Forsius and Eriksson (1964), Jalkanen et al. (2007) identified homozygosity for a 425-bp deletion mutation encompassing exon 30 and portions of adjacent introns of the CACN1F gene. The mutation was found in heterozygous state in carrier females of this family and was not found in samples from 121 Finnish male control subjects. The mutation is predicted to cause a deletion of the transmembrane domain IVS2 and the preceding extracellular loop and consequently an altered membrane topology for the C-terminal part of the protein. </p>
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<h4>
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<span class="mim-font">
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<strong>.0009 CONE-ROD DYSTROPHY, X-LINKED, 3</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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CACNA1F, GLY848SER
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<br />
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SNP: rs863225090,
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ClinVar: RCV000201353
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</span>
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<span class="mim-text-font">
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<p>In a Chinese male proband with cone-rod dystrophy (CORDX3; 300476), Huang et al. (2013) identified hemizygosity for a c.2542G-A transition (c.2542G-A, NM_005183.2) in the CACNA1F gene, resulting in a gly848-to-ser (G848S) substitution. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0010 CONE-ROD DYSTROPHY, X-LINKED, 3</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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CACNA1F, EX18-26DEL
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<br />
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ClinVar: RCV000201391
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</span>
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<span class="mim-text-font">
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<p>In affected male members over 3 generations of a large German family with slowly progressive cone-rod dystrophy (CORDX3; 300476), Hauke et al. (2013) identified hemizygosity for a large intragenic in-frame deletion encompassing exons 18 to 26 of the CACNA1F gene (EX18-27del, NM_005183.2). The deletion is flanked by AluSx repeat sequences on both sides, suggesting that it results from Alu-Alu repeat-mediated nonhomologous recombination. Sequencing of truncated transcripts from affected individuals revealed the aberrant junction of exon 17 to exon 27, representing the loss of 267 amino acids (residues 77-1041), including 4 transmembrane helices within the homologous domain III. The deletion segregated with disease in the family, with asymptomatic female carriers being heterozygous for the deletion. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Jalkanen et al. (2003)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Baumann, L., Gerstner, A., Zong, X., Biel, M., Wahl-Schott, C.
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<strong>Functional characterization of the L-type Ca(2+) channel Cav1.4-alpha-1 from the mouse retina.</strong>
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Invest. Ophthal. Vis. Sci. 45: 708-713, 2004.
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[PubMed: 14744918]
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[Full Text: https://doi.org/10.1167/iovs.03-0937]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bech-Hansen, N. T., Naylor, M. J., Maybaum, T. A., Pearce, W. G., Koop, B., Fishman, G. A., Mets, M., Musarella, M. A., Boycott, K. M.
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<strong>Loss-of-function mutations in a calcium-channel alpha-1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.</strong>
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Nature Genet. 19: 264-267, 1998.
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[PubMed: 9662400]
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[Full Text: https://doi.org/10.1038/947]
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<p class="mim-text-font">
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Boycott, K. M., Maybaum, T. A., Naylor, M. J., Weleber, R. G., Robitaille, J., Miyake, Y., Bergen, A. A. B., Pierpont, M. E., Pearce, W. G., Bech-Hansen, N. T.
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<strong>A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.</strong>
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Hum. Genet. 108: 91-97, 2001.
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[PubMed: 11281458]
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Boycott, K. M., Pearce, W. G., Musarella, M. A., Weleber, R. G., Maybaum, T. A., Birch, D. G., Miyake, Y., Young, R. S. L., Bech-Hansen, N. T.
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<strong>Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.</strong>
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Am. J. Hum. Genet. 62: 865-875, 1998.
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[PubMed: 9529339]
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Fisher, S. E., Ciccodicola, A., Tanaka, K., Curci, A., Desicato, S., D'Urso, M., Craig, I. W.
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<strong>Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp.</strong>
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Genomics 45: 340-347, 1997.
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[PubMed: 9344658]
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[Full Text: https://doi.org/10.1006/geno.1997.4941]
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</p>
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<li>
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<p class="mim-text-font">
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Forsius, H., Eriksson, A. W.
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<strong>Ein neues Augensyndrom mit X-chromosomaler Transmission: eine Sippe mit Fundusalbinismus, Foveahypoplasie, Nystagmus, Myopie, Astigmatismus und Dyschromatopsie.</strong>
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Klin. Monatsbl. Augenheilkd. 144: 447-457, 1964.
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[PubMed: 14230113]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hauke, J., Schild, A., Neugebauer, A., Lappa, A., Fricke, J., Fauser, S., Rosler, S., Pannes, A., Zarrinnam, D., Altmuller, J., Motameny, S., Nurnberg, G., Nurnberg, P., Hahnen, E., Beck, B. B.
|
|
<strong>A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.</strong>
|
|
PLoS One 8: e76414, 2013. Note: Electronic Article.
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[PubMed: 24124559]
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[Full Text: https://doi.org/10.1371/journal.pone.0076414]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hemara-Wahanui, A., Berjukow, S., Hope, C. I., Dearden, P. K., Wu, S.-B., Wilson-Wheeler, J., Sharp, D. M., Lundon-Treweek, P., Clover, G. M., Hoda, J.-C., Striessnig, J., Marksteiner, R., Hering, S., Maw, M. A.
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<strong>A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Ca(v)1.4 channel activation.</strong>
|
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Proc. Nat. Acad. Sci. 102: 7553-7558, 2005.
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[PubMed: 15897456]
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[Full Text: https://doi.org/10.1073/pnas.0501907102]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Huang, L., Zhang, Q., Li, S., Guan, L., Xiao, X., Zhang, J., Jia, X., Sun, W., Zhu, Z., Gao, Y., Yin, Y., Wang, P., Guo, X., Wang, J., Zhang, Q.
|
|
<strong>Exome sequencing of 47 Chinese families with cone-rod dystrophy: mutations in 25 known causative genes.</strong>
|
|
PLoS One 8: e65546, 2013. Note: Electronic Article.
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[PubMed: 23776498]
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[Full Text: https://doi.org/10.1371/journal.pone.0065546]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Jacobi, F. K., Hamel, C. P., Arnaud, B., Blin, N., Broghammer, M., Jacobi, P. C., Apfelstedt-Sylla, E., Pusch, C. M.
|
|
<strong>A novel CACNA1F mutation in a French family with the incomplete type of X-linked congenital stationary night blindness.</strong>
|
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Am. J. Ophthal. 135: 733-736, 2003.
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[PubMed: 12719097]
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[Full Text: https://doi.org/10.1016/s0002-9394(02)02109-8]
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<li>
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<p class="mim-text-font">
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|
Jalkanen, R., Bech-Hansen, N. T., Tobias, R., Sankila, E.-M., Mantyjarvi, M., Forsius, H., de la Chapelle, A., Alitalo, T.
|
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<strong>A novel CACNA1F gene mutation causes Aland Island eye disease.</strong>
|
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Invest. Ophthal. Vis. Sci. 48: 2498-2502, 2007.
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[PubMed: 17525176]
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[Full Text: https://doi.org/10.1167/iovs.06-1103]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Jalkanen, R., Demirci, F. Y., Tyynismaa, H., Bech-Hansen, T., Meindl, A., Peippo, M., Mantyjarvi, M., Gorin, M. B., Alitalo, T.
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<strong>A new genetic locus for X linked progressive cone-rod dystrophy.</strong>
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J. Med. Genet. 40: 418-423, 2003.
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[PubMed: 12807962]
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[Full Text: https://doi.org/10.1136/jmg.40.6.418]
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<p class="mim-text-font">
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Jalkanen, R., Mantyjarvi, M., Tobias, R., Isosomppi, J., Sankila, E.-M., Alitalo, T., Bech-Hansen, N. T.
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<strong>X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. (Letter)</strong>
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J. Med. Genet. 43: 699-704, 2006.
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[PubMed: 16505158]
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[Full Text: https://doi.org/10.1136/jmg.2006.040741]
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<li>
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<p class="mim-text-font">
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Jia, S., Muto, A., Orisme, W., Henson, H. E., Parupalli, C., Ju, B., Baier, H., Taylor, M. R.
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<strong>Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation.</strong>
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Hum. Molec. Genet. 23: 2981-2994, 2014.
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[PubMed: 24419318]
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[Full Text: https://doi.org/10.1093/hmg/ddu009]
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<p class="mim-text-font">
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Liu, X., Yang, P. S., Yang, W., Yue, D. T.
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<strong>Enzyme-inhibitor-like tuning of Ca(2+) channel connectivity with calmodulin.</strong>
|
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Nature 463: 968-972, 2010. Note: Erratum: Nature 464: 1390 only, 2010.
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[PubMed: 20139964]
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[Full Text: https://doi.org/10.1038/nature08766]
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</p>
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<li>
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<p class="mim-text-font">
|
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Mansergh, F., Orton, N. C., Vessey, J. P., Lalonde, M. R., Stell, W. K., Tremblay, F., Barnes, S., Rancourt, D. E., Bech-Hansen, N. T.
|
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<strong>Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.</strong>
|
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Hum. Molec. Genet. 14: 3035-3046, 2005.
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[PubMed: 16155113]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mantyjarvi, M., Nurmenniemi, P., Partanen, J., Myohanen, T., Peippo, M., Alitalo, T.
|
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<strong>Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy.</strong>
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Acta Ophthal. Scand. 79: 359-365, 2001.
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[PubMed: 11453854]
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[Full Text: https://doi.org/10.1034/j.1600-0420.2001.079004359.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Nakamura, M., Ito, S., Piao, C-H., Terasaki, H., Miyake, Y.
|
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<strong>Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family.</strong>
|
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Arch. Ophthal. 121: 1028-1033, 2003.
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[PubMed: 12860808]
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[Full Text: https://doi.org/10.1001/archopht.121.7.1028]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Naylor, M. J., Rancourt, D. E., Bech-Hansen, N. T.
|
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<strong>Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness.</strong>
|
|
Genomics 66: 324-327, 2000.
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[PubMed: 10873387]
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[Full Text: https://doi.org/10.1006/geno.2000.6204]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Strom, T. M., Nyakatura, G., Apfelstedt-Sylla, E., Hellebrand, H., Lorenz, B., Weber, B. H. F., Wutz, K., Gutwillinger, N., Ruther, K., Drescher, B., Sauer, C., Zrenner, E., Meitinger, T., Rosenthal, A., Meindl, A.
|
|
<strong>An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.</strong>
|
|
Nature Genet. 19: 260-263, 1998.
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[PubMed: 9662399]
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[Full Text: https://doi.org/10.1038/940]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wutz, K., Sauer, C., Zrenner, E., Lorenz, B., Alitalo, T., Broghammer, M., Hergersberg, M., de la Chapelle, A., Weber, B. H. F., Wissinger, B., Meindl, A., Pusch, C. M.
|
|
<strong>Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.</strong>
|
|
Europ. J. Hum. Genet. 10: 449-456, 2002.
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[PubMed: 12111638]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200828]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Contributors:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/28/2015<br>Patricia A. Hartz - updated : 8/8/2014<br>Ada Hamosh - updated : 4/22/2010<br>George E. Tiller - updated : 5/13/2009<br>Jane Kelly - updated : 10/31/2007<br>Marla J. F. O'Neill - updated : 8/31/2006<br>Patricia A. Hartz - updated : 6/23/2005<br>Jane Kelly - updated : 2/23/2004<br>Jane Kelly - updated : 8/19/2003<br>Michael B. Petersen - updated : 6/13/2003<br>Victor A. McKusick - updated : 3/13/2001<br>Victor A. McKusick - updated : 6/23/1998
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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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<br />
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Victor A. McKusick : 12/11/1997
|
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</span>
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</div>
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</div>
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carol : 06/26/2024<br>carol : 10/28/2015<br>carol : 10/28/2015<br>carol : 7/20/2015<br>carol : 5/22/2015<br>mcolton : 5/21/2015<br>mgross : 8/11/2014<br>mcolton : 8/8/2014<br>terry : 11/16/2010<br>alopez : 6/17/2010<br>alopez : 4/26/2010<br>terry : 4/22/2010<br>wwang : 6/25/2009<br>terry : 5/13/2009<br>terry : 9/10/2008<br>carol : 10/31/2007<br>carol : 10/31/2007<br>wwang : 9/1/2006<br>terry : 8/31/2006<br>mgross : 7/14/2005<br>mgross : 7/14/2005<br>mgross : 7/14/2005<br>terry : 6/23/2005<br>tkritzer : 8/12/2004<br>tkritzer : 2/23/2004<br>carol : 11/5/2003<br>carol : 8/19/2003<br>cwells : 6/13/2003<br>cwells : 3/23/2001<br>terry : 3/13/2001<br>alopez : 11/15/1999<br>alopez : 6/29/1998<br>terry : 6/23/1998<br>mark : 12/11/1997<br>mark : 12/11/1997
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