3511 lines
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Entry
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- *609275 - RAB3 GTPase-ACTIVATING PROTEIN, NONCATALYTIC SUBUNIT; RAB3GAP2
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- OMIM
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<p>
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<span class="h4">*609275</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</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/609275">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<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="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=ENSG00000118873;t=ENST00000358951" 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=25782" 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=609275" 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=ENSG00000118873;t=ENST00000358951" 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_012414" 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_012414" 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=609275" 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=11471&isoform_id=11471_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/RAB3GAP2" 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/3608356,5912215,10433228,12005821,19923790,20521672,62511132,119613710,148922274,158255904,193786547" 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/Q9H2M9" 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=25782" 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=ENSG00000118873;t=ENST00000358951" 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=RAB3GAP2" 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=RAB3GAP2" 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+25782" 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/RAB3GAP2" 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:25782" 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/25782" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000358951.7&hgg_start=220148293&hgg_end=220272453&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/gene-dosage/HGNC:17168" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:17168" 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/rab3gap2" 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=609275[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=609275[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/RAB3GAP2/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/ENSG00000118873" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=RAB3GAP2" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=RAB3GAP2" 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=RAB3GAP2" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=RAB3GAP2&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/PA142671105" 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:17168" 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/FBgn0027505.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:1916043" 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/RAB3GAP2#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:1916043" 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/25782/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=25782" 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=WBGene00004318;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-030616-610" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=RAB3GAP2&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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609275
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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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RAB3 GTPase-ACTIVATING PROTEIN, NONCATALYTIC SUBUNIT; RAB3GAP2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
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RAB3GAP, 150-KD SUBUNIT; RAB3GAP150<br />
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p150<br />
|
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KIAA0839
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=RAB3GAP2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RAB3GAP2</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>
|
|
Cytogenetic location: <a href="/geneMap/1/1720?start=-3&limit=10&highlight=1720">1q41</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:220148293-220272453&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:220,148,293-220,272,453</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">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<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>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=212720,614225" 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>
|
|
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>
|
|
</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/1720?start=-3&limit=10&highlight=1720">
|
|
1q41
|
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</a>
|
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</span>
|
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</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Martsolf syndrome 1
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/212720"> 212720 </a>
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<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>
|
|
<span class="mim-font">
|
|
Warburg micro syndrome 2
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614225"> 614225 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
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</span>
|
|
</td>
|
|
</tr>
|
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</tbody>
|
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</table>
|
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</div>
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</div>
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<p>Members of the RAB3 protein family (see RAB3A; <a href="/entry/179490">179490</a>) are implicated in Ca(2+)-dependent exocytosis. RAB3GAP, which is involved in regulation of RAB3 activity, is a heterodimeric complex consisting a 130-kD catalytic subunit (RAB3GAP1; <a href="/entry/602536">602536</a>) and a 150-kD noncatalytic subunit (RAB3GAP2) (<a href="#6" class="mim-tip-reference" title="Nagano, F., Sasaki, T., Fukui, K., Asakura, T., Imazumi, K., Takai, Y. <strong>Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein.</strong> J. Biol. Chem. 273: 24781-24785, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9733780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9733780</a>] [<a href="https://doi.org/10.1074/jbc.273.38.24781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9733780">Nagano et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9733780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By database analysis to identify human peptide sequences similar to the 150-kD noncatalytic subunit of rat Rab3gap (p150), followed by PCR, library screening, and 5-prime RACE of a brain cDNA library, <a href="#6" class="mim-tip-reference" title="Nagano, F., Sasaki, T., Fukui, K., Asakura, T., Imazumi, K., Takai, Y. <strong>Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein.</strong> J. Biol. Chem. 273: 24781-24785, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9733780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9733780</a>] [<a href="https://doi.org/10.1074/jbc.273.38.24781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9733780">Nagano et al. (1998)</a> cloned human p150. The deduced protein contains 1,393 amino acids. Northern blot analysis detected a 7.5-kb transcript in all human tissues examined. Western blot analysis of subcellular fractionated rat brain detected p150 enriched in the synaptic soluble fraction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9733780" 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 sequencing clones obtained from a size-fractionated brain cDNA library, <a href="#7" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Oharo, O. <strong>Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 5: 355-364, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10048485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10048485</a>] [<a href="https://doi.org/10.1093/dnares/5.6.355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10048485">Nagase et al. (1998)</a> cloned KIAA0839. RT-PCR ELISA detected highest expression in brain, followed by kidney, ovary, and heart. Intermediate expression was detected in all other tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10048485" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Aligianis, I. A., Morgan, N. V., Mione, M., Johnson, C. A., Rosser, E., Hennekam, R. C., Adams, G., Trembath, R. C., Pilz, D. T., Stoodley, N., Moore, A. T., Wilson, S., Maher, E. R. <strong>Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.</strong> Am. J. Hum. Genet. 78: 702-707, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16532399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16532399</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16532399[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/502681" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16532399">Aligianis et al. (2006)</a> stated that the RAB3GAP2 gene comprises 36 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16532399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 1/11/2017."None>Gross (2017)</a> mapped the RAB3GAP2 gene to chromosome 1q41 based on an alignment of the RAB3GAP2 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AF004828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AF004828</a>) with the genomic sequence (GRCh38).</p>
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<p>By coimmunoprecipitation of rat brain synaptic soluble fractions, <a href="#6" class="mim-tip-reference" title="Nagano, F., Sasaki, T., Fukui, K., Asakura, T., Imazumi, K., Takai, Y. <strong>Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein.</strong> J. Biol. Chem. 273: 24781-24785, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9733780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9733780</a>] [<a href="https://doi.org/10.1074/jbc.273.38.24781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9733780">Nagano et al. (1998)</a> found a strong direct interaction between p150 and a 130-kD protein (p130) that showed GAP activity toward Rab3 family members. p150 did not show GAP activity, and the interaction between p150 and p130 did not alter the activity of p130 or the subcellular distribution of the 2 proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9733780" 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 mRNA expression studies of the orthologs of RAB3GAP1 and RAB3GAP2 in zebrafish embryos, <a href="#2" class="mim-tip-reference" title="Aligianis, I. A., Morgan, N. V., Mione, M., Johnson, C. A., Rosser, E., Hennekam, R. C., Adams, G., Trembath, R. C., Pilz, D. T., Stoodley, N., Moore, A. T., Wilson, S., Maher, E. R. <strong>Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.</strong> Am. J. Hum. Genet. 78: 702-707, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16532399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16532399</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16532399[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/502681" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16532399">Aligianis et al. (2006)</a> demonstrated that, whereas developmental expression of Rab3gap1 was generalized similar to that reported in mice, Rab3gap2 expression was restricted to the central nervous system. These findings were consistent with RAB3GAP2 having a key role in neurodevelopment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16532399" 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>Martsolf Syndrome 1</em></strong></p><p>
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<a href="#2" class="mim-tip-reference" title="Aligianis, I. A., Morgan, N. V., Mione, M., Johnson, C. A., Rosser, E., Hennekam, R. C., Adams, G., Trembath, R. C., Pilz, D. T., Stoodley, N., Moore, A. T., Wilson, S., Maher, E. R. <strong>Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.</strong> Am. J. Hum. Genet. 78: 702-707, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16532399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16532399</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16532399[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/502681" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16532399">Aligianis et al. (2006)</a> identified a homozygous missense mutation in the noncatalytic subunit of RAB3GAP (<a href="#0001">609275.0001</a>) that resulted in abnormal splicing in affected members of a family with Martsolf syndrome (MARTS1; <a href="/entry/212720">212720</a>). The heterodimeric complex RAB3GAP consists of a catalytic subunit and a noncatalytic subunit encoded by RAB3GAP1 (<a href="/entry/602536">602536</a>) and RAB3GAP2, respectively. Expression studies in zebrafish yielded results consistent with RAB3GAP2 having a key role in neurodevelopment. <a href="#2" class="mim-tip-reference" title="Aligianis, I. A., Morgan, N. V., Mione, M., Johnson, C. A., Rosser, E., Hennekam, R. C., Adams, G., Trembath, R. C., Pilz, D. T., Stoodley, N., Moore, A. T., Wilson, S., Maher, E. R. <strong>Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.</strong> Am. J. Hum. Genet. 78: 702-707, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16532399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16532399</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16532399[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/502681" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16532399">Aligianis et al. (2006)</a> suggested that this may indicate that Warburg micro syndrome (<a href="/entry/600118">600118</a>), which had been shown to have mutations in RAB3GAP1, and Martsolf syndrome represent a spectrum of disorders. However, <a href="#2" class="mim-tip-reference" title="Aligianis, I. A., Morgan, N. V., Mione, M., Johnson, C. A., Rosser, E., Hennekam, R. C., Adams, G., Trembath, R. C., Pilz, D. T., Stoodley, N., Moore, A. T., Wilson, S., Maher, E. R. <strong>Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.</strong> Am. J. Hum. Genet. 78: 702-707, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16532399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16532399</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16532399[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/502681" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16532399">Aligianis et al. (2006)</a> detected no RAB3GAP2 mutations in patients with Warburg Micro syndrome. Together, these findings suggested that dysregulation of RAB3GAP may result in a spectrum of phenotypes that range from Warburg micro syndrome to Martsolf syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16532399" 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 2 Gambian sisters and a Mexican Hispanic boy with Martsolf syndrome, <a href="#5" class="mim-tip-reference" title="Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. <strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong> Hum. Mutat. 34: 686-696, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>] [<a href="https://doi.org/10.1002/humu.22296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420520">Handley et al. (2013)</a> identified homozygosity for a missense mutation in the RAB3GAP2 gene (R426C; <a href="#0003">609275.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420520" 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="#1" class="mim-tip-reference" title="Abdel-Hamid, M. S., Abdel-Ghafar, S. F., Ismail, S. R., Desouky, L. M., Issa, M. Y., Effat, L. K., Zaki, M. S. <strong>Micro and Martsolf syndromes in 34 new patients: refining the phenotypic spectrum and further molecular insights.</strong> Clin. Genet. 98: 445-456, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32740904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32740904</a>] [<a href="https://doi.org/10.1111/cge.13825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32740904">Abdel-Hamid et al. (2020)</a> sequenced the RAB3GAP1 and RAB3GAP2 genes in 34 patients from Egypt diagnosed with WARBM2 (27 patients) or Martsolf syndrome (7 patients). All 7 patients with Martsolf syndrome were homozygous for truncating mutations in the RAB3GAP2 gene (see, e.g., <a href="#0007">609275.0007</a>-<a href="#0008">609275.0008</a>). All of the mutations were absent from the dbSNP, 1000 Genomes Project, and gnomAD databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32740904" 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>Warburg Micro Syndrome 2</em></strong></p><p>
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In a patient with Warburg Micro syndrome-2 (WARBM2; <a href="/entry/614225">614225</a>), <a href="#3" class="mim-tip-reference" title="Borck, G., Wunram, H., Steiert, A., Volk, A. E., Korber, F., Roters, S., Herkenrath, P., Wollnik, B., Morris-Rosendahl, D. J., Kubisch, C. <strong>A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.</strong> Hum. Genet. 129: 45-50, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20967465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20967465</a>] [<a href="https://doi.org/10.1007/s00439-010-0896-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20967465">Borck et al. (2011)</a> identified a homozygous in-frame deletion of 9 bp in exon 6 of the RAB3GAP2 gene (<a href="#0002">609275.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20967465" 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 individuals from 7 families with Warburg Micro syndrome, <a href="#5" class="mim-tip-reference" title="Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. <strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong> Hum. Mutat. 34: 686-696, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>] [<a href="https://doi.org/10.1002/humu.22296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420520">Handley et al. (2013)</a> identified homozygosity for mutations in the RAB3GAP2 gene (see, e.g., <a href="#0004">609275.0004</a>-<a href="#0006">609275.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420520" 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="#1" class="mim-tip-reference" title="Abdel-Hamid, M. S., Abdel-Ghafar, S. F., Ismail, S. R., Desouky, L. M., Issa, M. Y., Effat, L. K., Zaki, M. S. <strong>Micro and Martsolf syndromes in 34 new patients: refining the phenotypic spectrum and further molecular insights.</strong> Clin. Genet. 98: 445-456, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32740904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32740904</a>] [<a href="https://doi.org/10.1111/cge.13825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32740904">Abdel-Hamid et al. (2020)</a> sequenced the RAB3GAP1 and RAB3GAP2 genes in 34 patients from Egypt diagnosed with WARBM2 (27 patients) or Martsolf syndrome (7 patients). Two patients with WARBM2 had mutations in the RAB3GAP2, including a truncating mutation and a missense mutation (A841V). The A841V mutation, which was found in patient 28 (family21) was considered to be a variant of unknown significance according to ACMG guidelines. The truncating mutation was absent from the dbSNP, 1000 Genomes Project, and gnomAD databases, and the missense mutation was present in the gnomAD database at an allele frequency of 0.00005172. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32740904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Borck, G., Wunram, H., Steiert, A., Volk, A. E., Korber, F., Roters, S., Herkenrath, P., Wollnik, B., Morris-Rosendahl, D. J., Kubisch, C. <strong>A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.</strong> Hum. Genet. 129: 45-50, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20967465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20967465</a>] [<a href="https://doi.org/10.1007/s00439-010-0896-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20967465">Borck et al. (2011)</a> suggested that functionally severe RAB3GAP2 mutations cause Warburg Micro syndrome-2, whereas hypomorphic RAB3GAP2 mutations can result in the milder Martsolf phenotype. They thus proposed that a phenotypic severity gradient may exist in the RAB3GAP-associated disease continuum (the 'Warburg-Martsolf syndrome'), which is presumably determined by the mutant gene and the nature of the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20967465" 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=609275[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121434310 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434310;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=rs121434310" 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=rs121434310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 sibs from a consanguineous Pakistani family with Martsolf syndrome (MARTS1; <a href="/entry/212720">212720</a>), <a href="#2" class="mim-tip-reference" title="Aligianis, I. A., Morgan, N. V., Mione, M., Johnson, C. A., Rosser, E., Hennekam, R. C., Adams, G., Trembath, R. C., Pilz, D. T., Stoodley, N., Moore, A. T., Wilson, S., Maher, E. R. <strong>Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.</strong> Am. J. Hum. Genet. 78: 702-707, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16532399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16532399</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16532399[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/502681" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16532399">Aligianis et al. (2006)</a> found a homozygous 3154G-T (gly1051 to cys) substitution in the RAB3GAP2 gene. Both parents were heterozygous for this substitution. In studies of lymphocyte RNA, <a href="#2" class="mim-tip-reference" title="Aligianis, I. A., Morgan, N. V., Mione, M., Johnson, C. A., Rosser, E., Hennekam, R. C., Adams, G., Trembath, R. C., Pilz, D. T., Stoodley, N., Moore, A. T., Wilson, S., Maher, E. R. <strong>Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.</strong> Am. J. Hum. Genet. 78: 702-707, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16532399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16532399</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16532399[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/502681" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16532399">Aligianis et al. (2006)</a> found that the G1051C mutation resulted in 2 transcripts. The substitution is adjacent to the exon 28 splice donor site and resulted in exon 28 skipping and frameshift. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16532399" 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">rs1553278569 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553278569;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=rs1553278569" 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=rs1553278569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a girl from a consanguineous Turkish family with Warburg Micro syndrome-2 (WARBM2; <a href="/entry/614225">614225</a>), <a href="#3" class="mim-tip-reference" title="Borck, G., Wunram, H., Steiert, A., Volk, A. E., Korber, F., Roters, S., Herkenrath, P., Wollnik, B., Morris-Rosendahl, D. J., Kubisch, C. <strong>A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.</strong> Hum. Genet. 129: 45-50, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20967465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20967465</a>] [<a href="https://doi.org/10.1007/s00439-010-0896-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20967465">Borck et al. (2011)</a> identified a homozygous 9-bp in-frame deletion (499_507delTTCTACACT) in the RAB3GAP2 gene. The mutation was predicted to lead to the deletion of the amino acids phenylalanine, tyrosine, and threonine at positions 167-169 of the protein (Phe167_Thr169del). The parents were heterozygous carriers of the mutation, which was absent in 288 Turkish and 170 German control chromosomes. RT-PCR on lymphocyte RNA from the patient confirmed the homozygous 9-bp deletion at the mRNA level and detected no aberrant splicing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20967465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587777167 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777167;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs587777167?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777167" 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=rs587777167" 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=RCV000087150 OR RCV000850507 OR RCV001807041" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087150, RCV000850507, RCV001807041" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087150...</a>
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<p>In 2 Gambian sisters and a Mexican Hispanic boy with Martsolf syndrome (MARTS1; <a href="/entry/212720">212720</a>), <a href="#5" class="mim-tip-reference" title="Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. <strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong> Hum. Mutat. 34: 686-696, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>] [<a href="https://doi.org/10.1002/humu.22296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420520">Handley et al. (2013)</a> identified homozygosity for a c.1276C-T transition in exon 14 of the RAB3GAP2 gene, resulting in an arg426-to-cys (R426C) substitution at a very highly conserved residue within a WKGYRDA motif. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420520" 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">rs587777168 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777168;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=rs587777168" 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=rs587777168" 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=RCV000087151" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087151" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087151</a>
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<p>In 2 affected individuals from a consanguineous Tunisian family with Warburg Micro syndrome-2 (WARBM2; <a href="/entry/614225">614225</a>), <a href="#5" class="mim-tip-reference" title="Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. <strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong> Hum. Mutat. 34: 686-696, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>] [<a href="https://doi.org/10.1002/humu.22296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420520">Handley et al. (2013)</a> identified homozygosity for a c.1434G-A transition in exon 14 of the RAB3GAP2 gene, resulting in a trp478-to-ter (W478X) substitution. The mutation segregated with disease within the family and was not found in 400 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587777169 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777169;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs587777169?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777169" 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=rs587777169" 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=RCV000087152 OR RCV002251979" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087152, RCV002251979" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087152...</a>
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<p>In 2 affected individuals from a consanguineous Saudi Arabian family with Warburg Micro syndrome-2 (WARBM2; <a href="/entry/614225">614225</a>), <a href="#5" class="mim-tip-reference" title="Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. <strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong> Hum. Mutat. 34: 686-696, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>] [<a href="https://doi.org/10.1002/humu.22296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420520">Handley et al. (2013)</a> identified homozygosity for a c.3637C-T transition in exon 32 of the RAB3GAP2 gene, resulting in an arg1213-to-ter (R1213X) substitution. The mutation segregated with disease within the family and was not found in 400 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 WARBURG MICRO SYNDROME 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777170 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777170;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=rs587777170" 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=rs587777170" 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=RCV000087153" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087153" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087153</a>
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<p>In a Dutch male patient with Warburg Micro syndrome-2 (WARBM2; <a href="/entry/614225">614225</a>), <a href="#5" class="mim-tip-reference" title="Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. <strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong> Hum. Mutat. 34: 686-696, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>] [<a href="https://doi.org/10.1002/humu.22296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420520">Handley et al. (2013)</a> identified homozygosity for a c.3085G-T transversion in exon 26 of the RAB3GAP2 gene, resulting in a glu1029-to-ter (E1029X) substitution. The mutation segregated with disease in the family and was not found in 400 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 MARTSOLF SYNDROME 1</strong>
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RAB3GAP2, GLN380TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2102859415 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2102859415;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=rs2102859415" 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=rs2102859415" 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=RCV001807415" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001807415" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001807415</a>
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<p>In 2 sibs (patients 26 and 27, family 20), born to consanguineous Egyptian parents, with Martsolf syndrome (MARTS1; <a href="/entry/212720">212720</a>), <a href="#1" class="mim-tip-reference" title="Abdel-Hamid, M. S., Abdel-Ghafar, S. F., Ismail, S. R., Desouky, L. M., Issa, M. Y., Effat, L. K., Zaki, M. S. <strong>Micro and Martsolf syndromes in 34 new patients: refining the phenotypic spectrum and further molecular insights.</strong> Clin. Genet. 98: 445-456, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32740904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32740904</a>] [<a href="https://doi.org/10.1111/cge.13825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32740904">Abdel-Hamid et al. (2020)</a> identified homozygosity for a c.2488C-T transition (c.2488C-T, NM_012414.4) in the RAB3GAP2 gene, resulting in a gln830-to-ter (Q830X) substitution. The mutation was not found in the dbSNP, 1000 Genomes Project, and gnomAD databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32740904" 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">rs2102866096 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2102866096;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=rs2102866096" 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=rs2102866096" 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=RCV001807416" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001807416" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001807416</a>
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<p>In 2 sibs (patients 29 and 30, family 22), born to consanguineous Egyptian parents, with Martsolf syndrome (MARTS1; <a href="/entry/212720">212720</a>), <a href="#1" class="mim-tip-reference" title="Abdel-Hamid, M. S., Abdel-Ghafar, S. F., Ismail, S. R., Desouky, L. M., Issa, M. Y., Effat, L. K., Zaki, M. S. <strong>Micro and Martsolf syndromes in 34 new patients: refining the phenotypic spectrum and further molecular insights.</strong> Clin. Genet. 98: 445-456, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32740904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32740904</a>] [<a href="https://doi.org/10.1111/cge.13825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32740904">Abdel-Hamid et al. (2020)</a> identified homozygosity for a c.1955T-A transversion (c.1955T-A, NM_012414.4) in the RAB3GAP2 gene, resulting in a leu652-to-ter (L652X) substitution. The mutation was not found in the dbSNP, 1000 Genomes Project, and gnomAD databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32740904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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</h4>
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<div>
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<p />
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<a id="1" class="mim-anchor"></a>
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<a id="Abdel-Hamid2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Abdel-Hamid, M. S., Abdel-Ghafar, S. F., Ismail, S. R., Desouky, L. M., Issa, M. Y., Effat, L. K., Zaki, M. S.
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<strong>Micro and Martsolf syndromes in 34 new patients: refining the phenotypic spectrum and further molecular insights.</strong>
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Clin. Genet. 98: 445-456, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32740904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32740904</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32740904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.13825" target="_blank">Full Text</a>]
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<a id="Aligianis2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Aligianis, I. A., Morgan, N. V., Mione, M., Johnson, C. A., Rosser, E., Hennekam, R. C., Adams, G., Trembath, R. C., Pilz, D. T., Stoodley, N., Moore, A. T., Wilson, S., Maher, E. R.
|
|
<strong>Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.</strong>
|
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Am. J. Hum. Genet. 78: 702-707, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16532399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16532399</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16532399[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=16532399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/502681" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Borck2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Borck, G., Wunram, H., Steiert, A., Volk, A. E., Korber, F., Roters, S., Herkenrath, P., Wollnik, B., Morris-Rosendahl, D. J., Kubisch, C.
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|
<strong>A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.</strong>
|
|
Hum. Genet. 129: 45-50, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20967465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20967465</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20967465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-010-0896-2" target="_blank">Full Text</a>]
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Gross2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1/11/2017.
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</p>
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<a id="5" class="mim-anchor"></a>
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<a id="Handley2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others.
|
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<strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong>
|
|
Hum. Mutat. 34: 686-696, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.22296" target="_blank">Full Text</a>]
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Nagano1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagano, F., Sasaki, T., Fukui, K., Asakura, T., Imazumi, K., Takai, Y.
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<strong>Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein.</strong>
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J. Biol. Chem. 273: 24781-24785, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9733780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9733780</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9733780" 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/10.1074/jbc.273.38.24781" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Nagase1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Oharo, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 5: 355-364, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10048485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10048485</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10048485" 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/dnares/5.6.355" target="_blank">Full Text</a>]
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Hilary J. Vernon - updated : 06/21/2021
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 01/11/2017<br>Marla J. F. O'Neill - updated : 2/21/2014<br>Nara Sobreira - updated : 9/14/2011<br>Victor A. McKusick - updated : 3/15/2006
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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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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Patricia A. Hartz : 3/25/2005
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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 : 07/08/2021
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 07/07/2021<br>carol : 06/21/2021<br>mgross : 01/11/2017<br>alopez : 02/26/2014<br>mcolton : 2/21/2014<br>carol : 10/28/2011<br>carol : 9/14/2011<br>terry : 9/14/2011<br>alopez : 3/17/2006<br>terry : 3/15/2006<br>mgross : 3/25/2005
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<h3>
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<span class="mim-font">
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<strong>*</strong> 609275
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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RAB3 GTPase-ACTIVATING PROTEIN, NONCATALYTIC SUBUNIT; RAB3GAP2
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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RAB3GAP, 150-KD SUBUNIT; RAB3GAP150<br />
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p150<br />
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KIAA0839
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</span>
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</h4>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: RAB3GAP2</em></strong>
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</span>
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</p>
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</div>
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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: 1q41
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:220,148,293-220,272,453 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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1q41
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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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Martsolf syndrome 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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212720
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Warburg micro syndrome 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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614225
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Members of the RAB3 protein family (see RAB3A; 179490) are implicated in Ca(2+)-dependent exocytosis. RAB3GAP, which is involved in regulation of RAB3 activity, is a heterodimeric complex consisting a 130-kD catalytic subunit (RAB3GAP1; 602536) and a 150-kD noncatalytic subunit (RAB3GAP2) (Nagano et al., 1998). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By database analysis to identify human peptide sequences similar to the 150-kD noncatalytic subunit of rat Rab3gap (p150), followed by PCR, library screening, and 5-prime RACE of a brain cDNA library, Nagano et al. (1998) cloned human p150. The deduced protein contains 1,393 amino acids. Northern blot analysis detected a 7.5-kb transcript in all human tissues examined. Western blot analysis of subcellular fractionated rat brain detected p150 enriched in the synaptic soluble fraction. </p><p>By sequencing clones obtained from a size-fractionated brain cDNA library, Nagase et al. (1998) cloned KIAA0839. RT-PCR ELISA detected highest expression in brain, followed by kidney, ovary, and heart. Intermediate expression was detected in all other tissues examined. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Aligianis et al. (2006) stated that the RAB3GAP2 gene comprises 36 exons. </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>Gross (2017) mapped the RAB3GAP2 gene to chromosome 1q41 based on an alignment of the RAB3GAP2 sequence (GenBank AF004828) with the genomic sequence (GRCh38).</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>By coimmunoprecipitation of rat brain synaptic soluble fractions, Nagano et al. (1998) found a strong direct interaction between p150 and a 130-kD protein (p130) that showed GAP activity toward Rab3 family members. p150 did not show GAP activity, and the interaction between p150 and p130 did not alter the activity of p130 or the subcellular distribution of the 2 proteins. </p><p>In mRNA expression studies of the orthologs of RAB3GAP1 and RAB3GAP2 in zebrafish embryos, Aligianis et al. (2006) demonstrated that, whereas developmental expression of Rab3gap1 was generalized similar to that reported in mice, Rab3gap2 expression was restricted to the central nervous system. These findings were consistent with RAB3GAP2 having a key role in neurodevelopment. </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>Martsolf Syndrome 1</em></strong></p><p>
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Aligianis et al. (2006) identified a homozygous missense mutation in the noncatalytic subunit of RAB3GAP (609275.0001) that resulted in abnormal splicing in affected members of a family with Martsolf syndrome (MARTS1; 212720). The heterodimeric complex RAB3GAP consists of a catalytic subunit and a noncatalytic subunit encoded by RAB3GAP1 (602536) and RAB3GAP2, respectively. Expression studies in zebrafish yielded results consistent with RAB3GAP2 having a key role in neurodevelopment. Aligianis et al. (2006) suggested that this may indicate that Warburg micro syndrome (600118), which had been shown to have mutations in RAB3GAP1, and Martsolf syndrome represent a spectrum of disorders. However, Aligianis et al. (2006) detected no RAB3GAP2 mutations in patients with Warburg Micro syndrome. Together, these findings suggested that dysregulation of RAB3GAP may result in a spectrum of phenotypes that range from Warburg micro syndrome to Martsolf syndrome. </p><p>In 2 Gambian sisters and a Mexican Hispanic boy with Martsolf syndrome, Handley et al. (2013) identified homozygosity for a missense mutation in the RAB3GAP2 gene (R426C; 609275.0003). </p><p>Abdel-Hamid et al. (2020) sequenced the RAB3GAP1 and RAB3GAP2 genes in 34 patients from Egypt diagnosed with WARBM2 (27 patients) or Martsolf syndrome (7 patients). All 7 patients with Martsolf syndrome were homozygous for truncating mutations in the RAB3GAP2 gene (see, e.g., 609275.0007-609275.0008). All of the mutations were absent from the dbSNP, 1000 Genomes Project, and gnomAD databases. </p><p><strong><em>Warburg Micro Syndrome 2</em></strong></p><p>
|
|
In a patient with Warburg Micro syndrome-2 (WARBM2; 614225), Borck et al. (2011) identified a homozygous in-frame deletion of 9 bp in exon 6 of the RAB3GAP2 gene (609275.0002). </p><p>In affected individuals from 7 families with Warburg Micro syndrome, Handley et al. (2013) identified homozygosity for mutations in the RAB3GAP2 gene (see, e.g., 609275.0004-609275.0006). </p><p>Abdel-Hamid et al. (2020) sequenced the RAB3GAP1 and RAB3GAP2 genes in 34 patients from Egypt diagnosed with WARBM2 (27 patients) or Martsolf syndrome (7 patients). Two patients with WARBM2 had mutations in the RAB3GAP2, including a truncating mutation and a missense mutation (A841V). The A841V mutation, which was found in patient 28 (family21) was considered to be a variant of unknown significance according to ACMG guidelines. The truncating mutation was absent from the dbSNP, 1000 Genomes Project, and gnomAD databases, and the missense mutation was present in the gnomAD database at an allele frequency of 0.00005172. </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">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Borck et al. (2011) suggested that functionally severe RAB3GAP2 mutations cause Warburg Micro syndrome-2, whereas hypomorphic RAB3GAP2 mutations can result in the milder Martsolf phenotype. They thus proposed that a phenotypic severity gradient may exist in the RAB3GAP-associated disease continuum (the 'Warburg-Martsolf syndrome'), which is presumably determined by the mutant gene and the nature of the mutation. </p>
|
|
</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
|
<strong>8 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>
|
|
<span class="mim-font">
|
|
<strong>.0001 MARTSOLF SYNDROME 1</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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|
RAB3GAP2, GLY1051CYS
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<br />
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SNP: rs121434310,
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|
|
ClinVar: RCV000001894, RCV001806998
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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 3 sibs from a consanguineous Pakistani family with Martsolf syndrome (MARTS1; 212720), Aligianis et al. (2006) found a homozygous 3154G-T (gly1051 to cys) substitution in the RAB3GAP2 gene. Both parents were heterozygous for this substitution. In studies of lymphocyte RNA, Aligianis et al. (2006) found that the G1051C mutation resulted in 2 transcripts. The substitution is adjacent to the exon 28 splice donor site and resulted in exon 28 skipping and frameshift. </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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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 WARBURG MICRO SYNDROME 2</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
RAB3GAP2, 9-BP DEL, NT499
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<br />
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|
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SNP: rs1553278569,
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|
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|
|
ClinVar: RCV000023762
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl from a consanguineous Turkish family with Warburg Micro syndrome-2 (WARBM2; 614225), Borck et al. (2011) identified a homozygous 9-bp in-frame deletion (499_507delTTCTACACT) in the RAB3GAP2 gene. The mutation was predicted to lead to the deletion of the amino acids phenylalanine, tyrosine, and threonine at positions 167-169 of the protein (Phe167_Thr169del). The parents were heterozygous carriers of the mutation, which was absent in 288 Turkish and 170 German control chromosomes. RT-PCR on lymphocyte RNA from the patient confirmed the homozygous 9-bp deletion at the mRNA level and detected no aberrant splicing. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MARTSOLF SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB3GAP2, ARG426CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777167,
|
|
|
|
|
|
gnomAD: rs587777167,
|
|
|
|
|
|
ClinVar: RCV000087150, RCV000850507, RCV001807041
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Gambian sisters and a Mexican Hispanic boy with Martsolf syndrome (MARTS1; 212720), Handley et al. (2013) identified homozygosity for a c.1276C-T transition in exon 14 of the RAB3GAP2 gene, resulting in an arg426-to-cys (R426C) substitution at a very highly conserved residue within a WKGYRDA motif. </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 WARBURG MICRO SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB3GAP2, TRP478TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777168,
|
|
|
|
|
|
|
|
ClinVar: RCV000087151
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 affected individuals from a consanguineous Tunisian family with Warburg Micro syndrome-2 (WARBM2; 614225), Handley et al. (2013) identified homozygosity for a c.1434G-A transition in exon 14 of the RAB3GAP2 gene, resulting in a trp478-to-ter (W478X) substitution. The mutation segregated with disease within the family and was not found in 400 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 WARBURG MICRO SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB3GAP2, ARG1213TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777169,
|
|
|
|
|
|
gnomAD: rs587777169,
|
|
|
|
|
|
ClinVar: RCV000087152, RCV002251979
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 affected individuals from a consanguineous Saudi Arabian family with Warburg Micro syndrome-2 (WARBM2; 614225), Handley et al. (2013) identified homozygosity for a c.3637C-T transition in exon 32 of the RAB3GAP2 gene, resulting in an arg1213-to-ter (R1213X) substitution. The mutation segregated with disease within the family and was not found in 400 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 WARBURG MICRO SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB3GAP2, GLU1029TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777170,
|
|
|
|
|
|
|
|
ClinVar: RCV000087153
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Dutch male patient with Warburg Micro syndrome-2 (WARBM2; 614225), Handley et al. (2013) identified homozygosity for a c.3085G-T transversion in exon 26 of the RAB3GAP2 gene, resulting in a glu1029-to-ter (E1029X) substitution. The mutation segregated with disease in the family and was not found in 400 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 MARTSOLF SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB3GAP2, GLN380TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2102859415,
|
|
|
|
|
|
|
|
ClinVar: RCV001807415
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs (patients 26 and 27, family 20), born to consanguineous Egyptian parents, with Martsolf syndrome (MARTS1; 212720), Abdel-Hamid et al. (2020) identified homozygosity for a c.2488C-T transition (c.2488C-T, NM_012414.4) in the RAB3GAP2 gene, resulting in a gln830-to-ter (Q830X) substitution. The mutation was not found in the dbSNP, 1000 Genomes Project, and gnomAD databases. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 MARTSOLF SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB3GAP2, LEU652TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2102866096,
|
|
|
|
|
|
|
|
ClinVar: RCV001807416
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs (patients 29 and 30, family 22), born to consanguineous Egyptian parents, with Martsolf syndrome (MARTS1; 212720), Abdel-Hamid et al. (2020) identified homozygosity for a c.1955T-A transversion (c.1955T-A, NM_012414.4) in the RAB3GAP2 gene, resulting in a leu652-to-ter (L652X) substitution. The mutation was not found in the dbSNP, 1000 Genomes Project, and gnomAD databases. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Abdel-Hamid, M. S., Abdel-Ghafar, S. F., Ismail, S. R., Desouky, L. M., Issa, M. Y., Effat, L. K., Zaki, M. S.
|
|
<strong>Micro and Martsolf syndromes in 34 new patients: refining the phenotypic spectrum and further molecular insights.</strong>
|
|
Clin. Genet. 98: 445-456, 2020.
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|
|
[PubMed: 32740904]
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|
|
[Full Text: https://doi.org/10.1111/cge.13825]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Aligianis, I. A., Morgan, N. V., Mione, M., Johnson, C. A., Rosser, E., Hennekam, R. C., Adams, G., Trembath, R. C., Pilz, D. T., Stoodley, N., Moore, A. T., Wilson, S., Maher, E. R.
|
|
<strong>Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.</strong>
|
|
Am. J. Hum. Genet. 78: 702-707, 2006.
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|
|
[PubMed: 16532399]
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[Full Text: https://doi.org/10.1086/502681]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Borck, G., Wunram, H., Steiert, A., Volk, A. E., Korber, F., Roters, S., Herkenrath, P., Wollnik, B., Morris-Rosendahl, D. J., Kubisch, C.
|
|
<strong>A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.</strong>
|
|
Hum. Genet. 129: 45-50, 2011.
|
|
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|
|
[PubMed: 20967465]
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[Full Text: https://doi.org/10.1007/s00439-010-0896-2]
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</p>
|
|
</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 1/11/2017.
|
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|
|
</p>
|
|
</li>
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Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others.
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<strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong>
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Hum. Mutat. 34: 686-696, 2013.
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[PubMed: 23420520]
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[Full Text: https://doi.org/10.1002/humu.22296]
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Nagano, F., Sasaki, T., Fukui, K., Asakura, T., Imazumi, K., Takai, Y.
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<strong>Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein.</strong>
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J. Biol. Chem. 273: 24781-24785, 1998.
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[PubMed: 9733780]
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[Full Text: https://doi.org/10.1074/jbc.273.38.24781]
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Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Oharo, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 5: 355-364, 1998.
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[PubMed: 10048485]
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[Full Text: https://doi.org/10.1093/dnares/5.6.355]
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