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<title>
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Entry
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- *606821 - COMPONENT OF OLIGOMERIC GOLGI COMPLEX 5; COG5
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- OMIM
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</li>
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</ul>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<li role="separator" class="divider"></li>
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<a href="/history"> Search History </a>
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</form>
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<div class="row">
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<p />
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</div>
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*606821</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
|
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<a href="/allelicVariants/606821">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
|
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
|
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</span>
|
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</span>
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</div>
|
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000164597;t=ENST00000297135" 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=10466" 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=606821" 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=ENSG00000164597;t=ENST00000297135" 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_001161520,NM_001379511,NM_001379512,NM_001379513,NM_001379514,NM_001379515,NM_001379516,NM_006348,NM_181733,XM_024446634" 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_006348" 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=606821" 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=08436&isoform_id=08436_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/COG5" 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/3808235,3980551,41472215,46249930,51095149,51095150,119603801,119603802,119603803,193785687,1753168908,1753168910,1753168912,1828977778,1828977780,1828977782,1828977785,1828977787,1828977789,2217365322,2462497014,2462612031,2664703225" 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/Q9UP83" 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=10466" 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=ENSG00000164597;t=ENST00000297135" 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=COG5" 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=COG5" 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+10466" 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/COG5" 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:10466" 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/10466" 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=chr7&hgg_gene=ENST00000297135.9&hgg_start=107201372&hgg_end=107563920&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">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:14857" 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/cog5" 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=606821[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=606821[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000164597" 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=COG5" 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=COG5" 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=COG5" 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=COG5&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/PA26698" 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:14857" 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/FBgn0024689.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:2145130" 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/COG5#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:2145130" 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/10466/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=10466" 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=WBGene00016608;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-041210-47" 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">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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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=COG5&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 721100009<br />
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">ICD+</a>
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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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606821
|
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</span>
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
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<span class="mim-font">
|
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|
|
COMPONENT OF OLIGOMERIC GOLGI COMPLEX 5; COG5
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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">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
GOLGI TRANSPORT COMPLEX 1; GOLTC1<br />
|
|
GOLGI TRANSPORT COMPLEX, 90-KD SUBUNIT; GTC90
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=COG5" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">COG5</a></em></strong>
|
|
</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/7/574?start=-3&limit=10&highlight=574">7q22.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:107201372-107563920&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'})">7:107,201,372-107,563,920</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
|
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|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>Multiprotein complexes are key determinants of Golgi apparatus structure and its capacity for intracellular transport and glycoprotein modification. Several complexes have been identified, including the Golgi transport complex (GTC), the LDLC complex, which is involved in glycosylation reactions, and the SEC34 complex, which is involved in vesicular transport. These 3 complexes are identical and have been termed the conserved oligomeric Golgi (COG) complex, which includes COG5 (<a href="#5" class="mim-tip-reference" title="Ungar, D., Oka, T., Brittle, E. E., Vasile, E., Lupashin, V. V., Chatterton, J. E., Heuser, J. E., Krieger, M., Waters, M. G. <strong>Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function.</strong> J. Cell Biol. 157: 405-415, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11980916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11980916</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11980916[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/10.1083/jcb.200202016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11980916">Ungar et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11980916" 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 searching for sequences homologous to purified bovine COG5 protein, <a href="#6" class="mim-tip-reference" title="Walter, D. M., Paul, K. S., Waters, M. G. <strong>Purification and characterization of a novel 13 S hetero oligomeric protein complex that stimulates in vitro Golgi transport.</strong> J. Biol. Chem. 273: 29565-29576, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792665</a>] [<a href="https://doi.org/10.1074/jbc.273.45.29565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792665">Walter et al. (1998)</a> identified human ESTs containing partial COG5 sequences, which they called GOLTC1. They obtained the full-length cDNA by PCR amplification of the 5-prime end of the sequence with a HeLa cell library used as template and insertion of a missing exon predicted by the bovine sequence. Human GOLTC1 encodes a deduced 839-amino acid protein with a calculated molecular mass of 92.7 kD. It shares 81% sequence identity with the bovine protein. By sequence comparison of several putative GOLTC1 cDNAs with the genomic sequence, <a href="#6" class="mim-tip-reference" title="Walter, D. M., Paul, K. S., Waters, M. G. <strong>Purification and characterization of a novel 13 S hetero oligomeric protein complex that stimulates in vitro Golgi transport.</strong> J. Biol. Chem. 273: 29565-29576, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792665</a>] [<a href="https://doi.org/10.1074/jbc.273.45.29565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792665">Walter et al. (1998)</a> determined that GOLTC1 mRNA is alternatively spliced. By tissue fractionation, Western blot analysis, and immunohistochemistry, they identified both membrane and cytosolic pools of GOLTC1 and localized the membrane-associated pool to the Golgi apparatus. With the use of an in vitro intra-Golgi transport assay, <a href="#6" class="mim-tip-reference" title="Walter, D. M., Paul, K. S., Waters, M. G. <strong>Purification and characterization of a novel 13 S hetero oligomeric protein complex that stimulates in vitro Golgi transport.</strong> J. Biol. Chem. 273: 29565-29576, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792665</a>] [<a href="https://doi.org/10.1074/jbc.273.45.29565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792665">Walter et al. (1998)</a> purified and identified GOLTC1 as 1 of at least 5 proteins comprising a Golgi transport complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792665" 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 SDS-PAGE analysis of bovine brain cytosol, <a href="#5" class="mim-tip-reference" title="Ungar, D., Oka, T., Brittle, E. E., Vasile, E., Lupashin, V. V., Chatterton, J. E., Heuser, J. E., Krieger, M., Waters, M. G. <strong>Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function.</strong> J. Cell Biol. 157: 405-415, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11980916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11980916</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11980916[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/10.1083/jcb.200202016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11980916">Ungar et al. (2002)</a> identified the 8 subunits of the COG complex. Immunofluorescence microscopy demonstrated that COG1 (LDLB; <a href="/entry/606973">606973</a>) colocalizes with COG7 (<a href="/entry/606978">606978</a>), as well as with COG3 (<a href="/entry/606975">606975</a>) and COG5, with a Golgi marker in a perinuclear distribution. Immunoprecipitation analysis showed that all COG subunits interact with COG2 (LDLC; <a href="/entry/606974">606974</a>). <a href="#5" class="mim-tip-reference" title="Ungar, D., Oka, T., Brittle, E. E., Vasile, E., Lupashin, V. V., Chatterton, J. E., Heuser, J. E., Krieger, M., Waters, M. G. <strong>Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function.</strong> J. Cell Biol. 157: 405-415, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11980916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11980916</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11980916[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/10.1083/jcb.200202016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11980916">Ungar et al. (2002)</a> concluded that the COG complex is critical for the structure and function of the Golgi apparatus and can influence intracellular membrane trafficking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11980916" 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 sequence analysis, <a href="#6" class="mim-tip-reference" title="Walter, D. M., Paul, K. S., Waters, M. G. <strong>Purification and characterization of a novel 13 S hetero oligomeric protein complex that stimulates in vitro Golgi transport.</strong> J. Biol. Chem. 273: 29565-29576, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792665</a>] [<a href="https://doi.org/10.1074/jbc.273.45.29565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792665">Walter et al. (1998)</a> identified the COG5 gene within a BAC clone mapping to chromosome 7q31. <a href="#2" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 3/27/2017."None>Gross (2017)</a> mapped the COG5 gene to chromosome 7q22.3 based on an alignment of the COG5 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AF058718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AF058718</a>) with the genomic sequence (GRCh38). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In an Iraqi girl with congenital disorder of glycosylation (CDG2I; <a href="/entry/613612">613612</a>), <a href="#3" class="mim-tip-reference" title="Paesold-Burda, P., Maag, C., Troxler, H., Foulquier, F., Kleinert, P., Schnabel, S., Baumgartner, M., Hennet, T. <strong>Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.</strong> Hum. Molec. Genet. 18: 4350-4356, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19690088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19690088</a>] [<a href="https://doi.org/10.1093/hmg/ddp389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19690088">Paesold-Burda et al. (2009)</a> identified a homozygous intronic substitution (<a href="#0001">606821.0001</a>) leading to exon skipping and severely reduced expression of the COG5 protein. The mutation was associated with a mild psychomotor retardation with delayed motor and language development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19690088" 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 direct sequencing of the COG5 gene in a 9-year-old Chinese girl with CDG2I, <a href="#1" class="mim-tip-reference" title="Fung, C. W., Matthijs, G., Sturiale, L., Garozzo, D., Wong, K. Y., Wong, R., Wong, V., Jaeken, J. <strong>COG5-CDG with a mild neurohepatic presentation.</strong> JIMD Rep. 3: 67-70, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23430875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23430875</a>] [<a href="https://doi.org/10.1007/8904_2011_61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23430875">Fung et al. (2012)</a> identified compound heterozygous mutations in the COG5 gene (<a href="#0002">606821.0002</a> and <a href="#0003">606821.0003</a>). Each parent was heterozygous for one of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23430875" 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 5 patients with CDG2I, including 2 Moroccan sibs, an Italian and a Belgian patient, and the patient reported by <a href="#1" class="mim-tip-reference" title="Fung, C. W., Matthijs, G., Sturiale, L., Garozzo, D., Wong, K. Y., Wong, R., Wong, V., Jaeken, J. <strong>COG5-CDG with a mild neurohepatic presentation.</strong> JIMD Rep. 3: 67-70, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23430875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23430875</a>] [<a href="https://doi.org/10.1007/8904_2011_61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23430875">Fung et al. (2012)</a>, <a href="#4" class="mim-tip-reference" title="Rymen, D., Keldermans, L., Race, V., Regal, L., Deconinck, N., Dionisi-Vici, C., Fung, C., Sturiale, L., Rosnoblet, C., Foulquier, F., Matthijs, G., Jaeken, J. <strong>COG5-CDG: expanding the clinical spectrum.</strong> Orphanet J. Rare Dis. 7: 94, 2012. Note: Electronic Article. Note: Erratum: Orphanet J. Rare Dis. 8: 120 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23228021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23228021</a>] [<a href="https://doi.org/10.1186/1750-1172-7-94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23228021">Rymen et al. (2012)</a> identified homozygous or compound heterozygous mutations in the COG5 gene (<a href="#0002">606821.0002</a>-<a href="#0007">606821.0007</a>). The mutations were found by whole-exome and/or Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23430875+23228021" 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 an 11-year-old Chinese boy with CDG2I, <a href="#8" class="mim-tip-reference" title="Yin, S., Gong, L., Qiu, H., Zhao, Y., Zhang, Y., Liu, C., Jiang, H., Mao, Y., Kong, L.-Y., Liang, B., Lv, Y. <strong>Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: a case report.</strong> Exp. Ther. Med. 18: 2695-2700, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31572517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31572517</a>] [<a href="https://doi.org/10.3892/etm.2019.7834" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31572517">Yin et al. (2019)</a> identified compound heterozygous mutations in the COG5 gene (606821.0008 and 606821.0009) by whole-exome sequencing. Each parent was heterozygous for one of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31572517" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 4-year-old Chinese girl with CDG2I, <a href="#7" class="mim-tip-reference" title="Wang, X., Han, L., Wang, X.-Y., Wang, J.-H., Li, X.-M., Jin, C.-H., Wang, L. <strong>Identification of two novel mutations in COG5 causing congenital disorder of glycosylation.</strong> Front. Genet. 11: 168, 2020. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32174980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32174980</a>] [<a href="https://doi.org/10.3389/fgene.2020.00168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32174980">Wang et al. (2020)</a> identified compound heterozygous mutations in the COG5 gene (<a href="#0010">606821.0010</a> and <a href="#0011">606821.0011</a>) by whole-exome sequencing. The mutations segregated with the disorder in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32174980" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>11 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606821[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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<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</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">rs1562937199 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1562937199;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=rs1562937199" 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=rs1562937199" 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 12-year-old Iraqi girl, born of consanguineous parents, with a congenital disorder of glycosylation (CDG2I; <a href="/entry/613612">613612</a>), <a href="#3" class="mim-tip-reference" title="Paesold-Burda, P., Maag, C., Troxler, H., Foulquier, F., Kleinert, P., Schnabel, S., Baumgartner, M., Hennet, T. <strong>Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.</strong> Hum. Molec. Genet. 18: 4350-4356, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19690088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19690088</a>] [<a href="https://doi.org/10.1093/hmg/ddp389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19690088">Paesold-Burda et al. (2009)</a> identified a homozygous T-to-C transition in intron 14 of the COG5 gene (1669-15T-C), resulting in altered splicing and a transcript lacking the 58 amino acids of exons 15 and 16. The mutation was not detected in 150 control alleles or 50 alleles from the same geographic region as the patient's family. Low levels of full-length COG5 were detected in patient fibroblasts, but the truncated protein could not be detected, suggesting it was unstable and prone to degradation. The girl exhibited mild hypotonia, mild ataxia, and moderate mental retardation. Brain MRI revealed atrophy of the cerebellum and brainstem. Biochemical analyses of serum transferrin, haptoglobin, and alpha-1-acid glycoprotein revealed defects in both N- and O-glycosylation. Retrograde Golgi-to-endoplasmic reticulum trafficking was markedly delayed in the patient fibroblasts upon brefeldin-A treatment, which is a hallmark of COG deficiency. The trafficking delay could be restored to normal values by expressing a wildtype COG5 cDNA in the patient cells. <a href="#3" class="mim-tip-reference" title="Paesold-Burda, P., Maag, C., Troxler, H., Foulquier, F., Kleinert, P., Schnabel, S., Baumgartner, M., Hennet, T. <strong>Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.</strong> Hum. Molec. Genet. 18: 4350-4356, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19690088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19690088</a>] [<a href="https://doi.org/10.1093/hmg/ddp389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19690088">Paesold-Burda et al. (2009)</a> suggested that CDG should be considered when investigating the basis of even mild neurologic impairments in children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19690088" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</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">rs1800843840 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1800843840;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=rs1800843840" 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=rs1800843840" 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=RCV001200897" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001200897" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001200897</a>
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<p>In a 9-year-old Chinese girl with congenital disorder of glycosylation IIi (CDG2I; <a href="/entry/613612">613612</a>), <a href="#1" class="mim-tip-reference" title="Fung, C. W., Matthijs, G., Sturiale, L., Garozzo, D., Wong, K. Y., Wong, R., Wong, V., Jaeken, J. <strong>COG5-CDG with a mild neurohepatic presentation.</strong> JIMD Rep. 3: 67-70, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23430875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23430875</a>] [<a href="https://doi.org/10.1007/8904_2011_61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23430875">Fung et al. (2012)</a> and <a href="#4" class="mim-tip-reference" title="Rymen, D., Keldermans, L., Race, V., Regal, L., Deconinck, N., Dionisi-Vici, C., Fung, C., Sturiale, L., Rosnoblet, C., Foulquier, F., Matthijs, G., Jaeken, J. <strong>COG5-CDG: expanding the clinical spectrum.</strong> Orphanet J. Rare Dis. 7: 94, 2012. Note: Electronic Article. Note: Erratum: Orphanet J. Rare Dis. 8: 120 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23228021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23228021</a>] [<a href="https://doi.org/10.1186/1750-1172-7-94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23228021">Rymen et al. (2012)</a>identified compound heterozygous mutations in the COG5 gene: a deletion of AGTAA and an insertion of CT at nucleotide 556 (c.556_560delAGTAAinsCT), resulting in a Ser186_Lys187delinsLeu protein change, and a c.95T-G transversion, resulting in a met32-to-arg (M32R; <a href="#0003">606821.0003</a>) substitution. (<a href="#1" class="mim-tip-reference" title="Fung, C. W., Matthijs, G., Sturiale, L., Garozzo, D., Wong, K. Y., Wong, R., Wong, V., Jaeken, J. <strong>COG5-CDG with a mild neurohepatic presentation.</strong> JIMD Rep. 3: 67-70, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23430875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23430875</a>] [<a href="https://doi.org/10.1007/8904_2011_61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23430875">Fung et al. (2012)</a> had cited the second mutation as a c.1856T-C transversion, resulting in an ile619-to-thr (I619T) substitution). The mutations segregated with the disorder in the family <a href="#1" class="mim-tip-reference" title="Fung, C. W., Matthijs, G., Sturiale, L., Garozzo, D., Wong, K. Y., Wong, R., Wong, V., Jaeken, J. <strong>COG5-CDG with a mild neurohepatic presentation.</strong> JIMD Rep. 3: 67-70, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23430875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23430875</a>] [<a href="https://doi.org/10.1007/8904_2011_61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23430875">Fung et al. (2012)</a> reported that serum transferrin isoelectric focusing showed a type 2 pattern and serum apolipoprotein C-III showed a decrease in the disialo isoform and an increase in the asialo isoform. Analysis of serum transferrin glycans showed evidence of hyposialylation. <a href="#4" class="mim-tip-reference" title="Rymen, D., Keldermans, L., Race, V., Regal, L., Deconinck, N., Dionisi-Vici, C., Fung, C., Sturiale, L., Rosnoblet, C., Foulquier, F., Matthijs, G., Jaeken, J. <strong>COG5-CDG: expanding the clinical spectrum.</strong> Orphanet J. Rare Dis. 7: 94, 2012. Note: Electronic Article. Note: Erratum: Orphanet J. Rare Dis. 8: 120 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23228021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23228021</a>] [<a href="https://doi.org/10.1186/1750-1172-7-94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23228021">Rymen et al. (2012)</a> studied fibroblasts from this patient and found a delay in redistribution of GalT-GFP into the endoplasmic reticulum compared to control, suggesting a defect in retrograde trafficking. Patient fibroblasts also showed a significant decrease in steady-state levels of the COG5 protein compared to control. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23430875+23228021" 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>.0003 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs375702393 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs375702393;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/rs375702393?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=rs375702393" 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=rs375702393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the c.95T-G transversion in the COG5 gene, resulting in a met32-to-arg (M32R) substitution, that was found in compound heterozygous state in a Chinese girl with congenital disorder of glycosylation type IIi (CDGIi; <a href="/entry/613612">613612</a>) by <a href="#4" class="mim-tip-reference" title="Rymen, D., Keldermans, L., Race, V., Regal, L., Deconinck, N., Dionisi-Vici, C., Fung, C., Sturiale, L., Rosnoblet, C., Foulquier, F., Matthijs, G., Jaeken, J. <strong>COG5-CDG: expanding the clinical spectrum.</strong> Orphanet J. Rare Dis. 7: 94, 2012. Note: Electronic Article. Note: Erratum: Orphanet J. Rare Dis. 8: 120 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23228021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23228021</a>] [<a href="https://doi.org/10.1186/1750-1172-7-94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23228021">Rymen et al. (2012)</a>, see <a href="#0002">606821.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23228021" 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>.0004 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</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">rs1798520770 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1798520770;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=rs1798520770" 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=rs1798520770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 Moroccan sibs with congenital disorder of glycosylation IIi (CDG2I; <a href="/entry/613612">613612</a>), born to consanguineous parents, <a href="#4" class="mim-tip-reference" title="Rymen, D., Keldermans, L., Race, V., Regal, L., Deconinck, N., Dionisi-Vici, C., Fung, C., Sturiale, L., Rosnoblet, C., Foulquier, F., Matthijs, G., Jaeken, J. <strong>COG5-CDG: expanding the clinical spectrum.</strong> Orphanet J. Rare Dis. 7: 94, 2012. Note: Electronic Article. Note: Erratum: Orphanet J. Rare Dis. 8: 120 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23228021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23228021</a>] [<a href="https://doi.org/10.1186/1750-1172-7-94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23228021">Rymen et al. (2012)</a> identified a homozygous c.2518G-T transversion in the COG5 gene, resulting in a glu840-to-ter (E840X) substitution. The mutations were identified by whole-exome sequencing in first sib and confirmed by Sanger sequencing in the second sib. A third sib had clinical features of CDG2I but did not have genetic confirmation. The sibs showed a type 2 pattern on transferrin isoelectric focusing, and analysis of N-glycans of serum transferrin suggested a defect in sialylation and a mild defect in galactosylation. Studies in fibroblasts from one of the sibs showed a significant decrease in steady-state levels of the COG5 protein as well as a delay in redistribution of GalT-GFP into the endoplasmic reticulum compared to controls, suggesting a defect in retrograde trafficking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23228021" 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">rs1554464495 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554464495;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=rs1554464495" 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=rs1554464495" 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=RCV000627437 OR RCV000704542 OR RCV003965310" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000627437, RCV000704542, RCV003965310" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000627437...</a>
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<p>In a 3-year-old Italian boy with congenital disorder of glycosylation IIi (CDG2I; <a href="/entry/613612">613612</a>) <a href="#4" class="mim-tip-reference" title="Rymen, D., Keldermans, L., Race, V., Regal, L., Deconinck, N., Dionisi-Vici, C., Fung, C., Sturiale, L., Rosnoblet, C., Foulquier, F., Matthijs, G., Jaeken, J. <strong>COG5-CDG: expanding the clinical spectrum.</strong> Orphanet J. Rare Dis. 7: 94, 2012. Note: Electronic Article. Note: Erratum: Orphanet J. Rare Dis. 8: 120 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23228021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23228021</a>] [<a href="https://doi.org/10.1186/1750-1172-7-94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23228021">Rymen et al. (2012)</a> identified compound heterozygous mutations in the COG5 gene: a 1-bp deletion (c.189delG), resulting in a frameshift and premature termination (Cys64ValfsTer6), and a 3-bp insertion (c.2338_2340dupATT; <a href="#0006">606821.0006</a>), resulting in duplication of isoleucine at amino acid position 780 (I780dup). The mutations were identified by Sanger sequencing. The I780dup mutation was not present in the dbSNP or 1000 Genomes Project databases. The patient showed a type 2 pattern on transferrin isoelectric focusing, and analysis of N-glycans of serum transferrin in serum suggested a defect in sialylation and a mild defect in galactosylation. Studies in fibroblasts from this patient showed a significant decrease in steady-state levels of the COG5 protein as well as a delay in redistribution of GalT-GFP into the endoplasmic reticulum compared to controls, suggesting a defect in retrograde trafficking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23228021" 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> rs751641438 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs751641438;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/rs751641438?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=rs751641438" 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=rs751641438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 3-bp insertion (c.2338_2340dupATT) in the COG5 gene, resulting in duplication of isoleucine at amino acid position 780 (I780dup), that was found in a patient with congenital disorder of glycosylation IIi (CDG2I; <a href="/entry/613612">613612</a>) by <a href="#4" class="mim-tip-reference" title="Rymen, D., Keldermans, L., Race, V., Regal, L., Deconinck, N., Dionisi-Vici, C., Fung, C., Sturiale, L., Rosnoblet, C., Foulquier, F., Matthijs, G., Jaeken, J. <strong>COG5-CDG: expanding the clinical spectrum.</strong> Orphanet J. Rare Dis. 7: 94, 2012. Note: Electronic Article. Note: Erratum: Orphanet J. Rare Dis. 8: 120 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23228021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23228021</a>] [<a href="https://doi.org/10.1186/1750-1172-7-94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23228021">Rymen et al. (2012)</a>, see <a href="#0005">606821.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23228021" 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> rs773453129 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs773453129;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/rs773453129?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=rs773453129" 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=rs773453129" 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 3-year-old Belgian boy with congenital disorder of glycosylation IIi (CDG2I; <a href="/entry/613612">613612</a>), <a href="#4" class="mim-tip-reference" title="Rymen, D., Keldermans, L., Race, V., Regal, L., Deconinck, N., Dionisi-Vici, C., Fung, C., Sturiale, L., Rosnoblet, C., Foulquier, F., Matthijs, G., Jaeken, J. <strong>COG5-CDG: expanding the clinical spectrum.</strong> Orphanet J. Rare Dis. 7: 94, 2012. Note: Electronic Article. Note: Erratum: Orphanet J. Rare Dis. 8: 120 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23228021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23228021</a>] [<a href="https://doi.org/10.1186/1750-1172-7-94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23228021">Rymen et al. (2012)</a> identified a homozygous c.1780G-T transversion in the COG5 gene, resulting in a val594-to-phe (V594F) substitution The mutation was identified by Sanger sequencing. The patient had a type 2 pattern on transferrin isoelectric focusing, and analysis of N-glycans of serum transferrin in serum suggested a defect in sialylation. Studies in fibroblasts from this patient showed a significant decrease in steady-state levels of the COG5 protein as well as a delay in redistribution of GalT-GFP into the endoplasmic reticulum compared to controls, suggesting a defect in retrograde trafficking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23228021" 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>.0008 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1330009938 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1330009938;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/rs1330009938?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=rs1330009938" 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=rs1330009938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an 11-year-old Chinese boy with congenital disorder of glycosylation IIi (CDG2I; <a href="/entry/613612">613612</a>), <a href="#8" class="mim-tip-reference" title="Yin, S., Gong, L., Qiu, H., Zhao, Y., Zhang, Y., Liu, C., Jiang, H., Mao, Y., Kong, L.-Y., Liang, B., Lv, Y. <strong>Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: a case report.</strong> Exp. Ther. Med. 18: 2695-2700, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31572517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31572517</a>] [<a href="https://doi.org/10.3892/etm.2019.7834" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31572517">Yin et al. (2019)</a> identified compound heterozygous mutations in the COG5 gene: a 1-bp deletion (c.330delT, NM_006348.3), predicting a frameshift and a premature termination codon (Val111LeufsTer22), and a c.2324C-T transition, resulting in a pro775-to-leu (P775L; <a href="#0009">606821.0009</a>) substitution. Each parent was heterozygous for one of the mutations. Neither mutation was present in the 1000 Genomes Project, ExAC, or gnomAD databases. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31572517" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</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">rs1135401817 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1135401817;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=rs1135401817" 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=rs1135401817" 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=RCV000496207" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000496207" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000496207</a>
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<p>For discussion of the c.2324C-T transition (c.2324C-T, NM_006348.3) in the COG5 gene, resulting in a pro775-to-leu (P775L) substitution, that was found in compound heterozygous state in a patient with congenital disorder of glycosylation IIi (CDG2I; <a href="/entry/613612">613612</a>) by <a href="#8" class="mim-tip-reference" title="Yin, S., Gong, L., Qiu, H., Zhao, Y., Zhang, Y., Liu, C., Jiang, H., Mao, Y., Kong, L.-Y., Liang, B., Lv, Y. <strong>Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: a case report.</strong> Exp. Ther. Med. 18: 2695-2700, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31572517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31572517</a>] [<a href="https://doi.org/10.3892/etm.2019.7834" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31572517">Yin et al. (2019)</a>, see <a href="#0008">606821.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31572517" 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>.0010 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1186766555 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1186766555;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/rs1186766555?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=rs1186766555" 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=rs1186766555" 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=RCV001200904 OR RCV002464409" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001200904, RCV002464409" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001200904...</a>
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<p>In a 4-year-old Chinese girl with congenital disorder of glycosylation IIi (CDG2I; <a href="/entry/613612">613612</a>), <a href="#7" class="mim-tip-reference" title="Wang, X., Han, L., Wang, X.-Y., Wang, J.-H., Li, X.-M., Jin, C.-H., Wang, L. <strong>Identification of two novel mutations in COG5 causing congenital disorder of glycosylation.</strong> Front. Genet. 11: 168, 2020. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32174980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32174980</a>] [<a href="https://doi.org/10.3389/fgene.2020.00168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32174980">Wang et al. (2020)</a> identified compound heterozygous mutations in the COG5 gene: a c.1290C-A transversion (c.1290C-A, NM_006348), resulting in a tyr430-to-ter (Y430X) substitution, and a c.2077A-C transversion, resulting in a thr693-to-pro (T693P; <a href="#0011">606821.0011</a>) substitution at a highly conserved residue. The mutations were identified by whole-exome sequencing and confirmed by Sanger sequencing. Each parent was heterozygous for one of the mutations. Western blot analysis in patient leukocytes revealed decreased expression of the full-length COG5 protein and the presence of a smaller protein product compared to wildtype. The Y430X mutation had a low frequency in the ExAC, 1000 Genomes Project, and gnomAD databases. The T693P mutation was absent from the 1000 Genomes database and had a low frequency in the ExAC and gnomAD databases. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32174980" 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>.0011 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs751860643 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs751860643;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/rs751860643?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=rs751860643" 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=rs751860643" 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=RCV001200905" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001200905" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001200905</a>
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<p>For discussion of the c.2077A-C transversion (c.2077A-C, NM_006348) in the COG5 gene, resulting in a thr693-to-pro (T693P) substitution, that was found in compound heterozygous state in a patient with congenital disorder of glycosylation IIi (CDG2I; <a href="/entry/613612">613612</a>) by <a href="#7" class="mim-tip-reference" title="Wang, X., Han, L., Wang, X.-Y., Wang, J.-H., Li, X.-M., Jin, C.-H., Wang, L. <strong>Identification of two novel mutations in COG5 causing congenital disorder of glycosylation.</strong> Front. Genet. 11: 168, 2020. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32174980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32174980</a>] [<a href="https://doi.org/10.3389/fgene.2020.00168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32174980">Wang et al. (2020)</a>, see <a href="#0010">606821.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32174980" 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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Fung, C. W., Matthijs, G., Sturiale, L., Garozzo, D., Wong, K. Y., Wong, R., Wong, V., Jaeken, J.
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<strong>COG5-CDG with a mild neurohepatic presentation.</strong>
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JIMD Rep. 3: 67-70, 2012.
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[<a href="https://doi.org/10.1007/8904_2011_61" target="_blank">Full Text</a>]
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 3/27/2017.
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Paesold-Burda, P., Maag, C., Troxler, H., Foulquier, F., Kleinert, P., Schnabel, S., Baumgartner, M., Hennet, T.
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<strong>Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.</strong>
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Hum. Molec. Genet. 18: 4350-4356, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19690088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19690088</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19690088" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddp389" target="_blank">Full Text</a>]
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Rymen, D., Keldermans, L., Race, V., Regal, L., Deconinck, N., Dionisi-Vici, C., Fung, C., Sturiale, L., Rosnoblet, C., Foulquier, F., Matthijs, G., Jaeken, J.
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<strong>COG5-CDG: expanding the clinical spectrum.</strong>
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Orphanet J. Rare Dis. 7: 94, 2012. Note: Electronic Article. Note: Erratum: Orphanet J. Rare Dis. 8: 120 only, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23228021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23228021</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23228021" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ungar, D., Oka, T., Brittle, E. E., Vasile, E., Lupashin, V. V., Chatterton, J. E., Heuser, J. E., Krieger, M., Waters, M. G.
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<strong>Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function.</strong>
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J. Cell Biol. 157: 405-415, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11980916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11980916</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11980916[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=11980916" 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/10.1083/jcb.200202016" target="_blank">Full Text</a>]
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Walter, D. M., Paul, K. S., Waters, M. G.
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<strong>Purification and characterization of a novel 13 S hetero oligomeric protein complex that stimulates in vitro Golgi transport.</strong>
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Wang, X., Han, L., Wang, X.-Y., Wang, J.-H., Li, X.-M., Jin, C.-H., Wang, L.
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<strong>Identification of two novel mutations in COG5 causing congenital disorder of glycosylation.</strong>
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Front. Genet. 11: 168, 2020. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32174980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32174980</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32174980" 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/10.3389/fgene.2020.00168" target="_blank">Full Text</a>]
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Yin, S., Gong, L., Qiu, H., Zhao, Y., Zhang, Y., Liu, C., Jiang, H., Mao, Y., Kong, L.-Y., Liang, B., Lv, Y.
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<strong>Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: a case report.</strong>
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Exp. Ther. Med. 18: 2695-2700, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31572517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31572517</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31572517" 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/10.3892/etm.2019.7834" target="_blank">Full Text</a>]
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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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Hilary J. Vernon - updated : 07/07/2020
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 03/27/2017<br>George E. Tiller - updated : 10/4/2010<br>Paul J. Converse - updated : 5/23/2002
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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="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 4/3/2002
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</span>
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<a id="editHistory" 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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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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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 : 01/26/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/09/2020<br>carol : 07/07/2020<br>mgross : 03/27/2017<br>wwang : 10/22/2010<br>terry : 10/4/2010<br>mgross : 5/23/2002<br>carol : 4/3/2002
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</span>
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</div>
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<div class="container visible-print-block">
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 606821
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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COMPONENT OF OLIGOMERIC GOLGI COMPLEX 5; COG5
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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GOLGI TRANSPORT COMPLEX 1; GOLTC1<br />
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GOLGI TRANSPORT COMPLEX, 90-KD SUBUNIT; GTC90
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</span>
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</h4>
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: COG5</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 721100009;
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</span>
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</p>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 7q22.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:107,201,372-107,563,920 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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7q22.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Congenital disorder of glycosylation, type IIi
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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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613612
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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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<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>Multiprotein complexes are key determinants of Golgi apparatus structure and its capacity for intracellular transport and glycoprotein modification. Several complexes have been identified, including the Golgi transport complex (GTC), the LDLC complex, which is involved in glycosylation reactions, and the SEC34 complex, which is involved in vesicular transport. These 3 complexes are identical and have been termed the conserved oligomeric Golgi (COG) complex, which includes COG5 (Ungar et al., 2002). </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 searching for sequences homologous to purified bovine COG5 protein, Walter et al. (1998) identified human ESTs containing partial COG5 sequences, which they called GOLTC1. They obtained the full-length cDNA by PCR amplification of the 5-prime end of the sequence with a HeLa cell library used as template and insertion of a missing exon predicted by the bovine sequence. Human GOLTC1 encodes a deduced 839-amino acid protein with a calculated molecular mass of 92.7 kD. It shares 81% sequence identity with the bovine protein. By sequence comparison of several putative GOLTC1 cDNAs with the genomic sequence, Walter et al. (1998) determined that GOLTC1 mRNA is alternatively spliced. By tissue fractionation, Western blot analysis, and immunohistochemistry, they identified both membrane and cytosolic pools of GOLTC1 and localized the membrane-associated pool to the Golgi apparatus. With the use of an in vitro intra-Golgi transport assay, Walter et al. (1998) purified and identified GOLTC1 as 1 of at least 5 proteins comprising a Golgi transport complex. </p><p>By SDS-PAGE analysis of bovine brain cytosol, Ungar et al. (2002) identified the 8 subunits of the COG complex. Immunofluorescence microscopy demonstrated that COG1 (LDLB; 606973) colocalizes with COG7 (606978), as well as with COG3 (606975) and COG5, with a Golgi marker in a perinuclear distribution. Immunoprecipitation analysis showed that all COG subunits interact with COG2 (LDLC; 606974). Ungar et al. (2002) concluded that the COG complex is critical for the structure and function of the Golgi apparatus and can influence intracellular membrane trafficking. </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>By sequence analysis, Walter et al. (1998) identified the COG5 gene within a BAC clone mapping to chromosome 7q31. Gross (2017) mapped the COG5 gene to chromosome 7q22.3 based on an alignment of the COG5 sequence (GenBank AF058718) 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>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>In an Iraqi girl with congenital disorder of glycosylation (CDG2I; 613612), Paesold-Burda et al. (2009) identified a homozygous intronic substitution (606821.0001) leading to exon skipping and severely reduced expression of the COG5 protein. The mutation was associated with a mild psychomotor retardation with delayed motor and language development. </p><p>By direct sequencing of the COG5 gene in a 9-year-old Chinese girl with CDG2I, Fung et al. (2012) identified compound heterozygous mutations in the COG5 gene (606821.0002 and 606821.0003). Each parent was heterozygous for one of the mutations. </p><p>In 5 patients with CDG2I, including 2 Moroccan sibs, an Italian and a Belgian patient, and the patient reported by Fung et al. (2012), Rymen et al. (2012) identified homozygous or compound heterozygous mutations in the COG5 gene (606821.0002-606821.0007). The mutations were found by whole-exome and/or Sanger sequencing. </p><p>In an 11-year-old Chinese boy with CDG2I, Yin et al. (2019) identified compound heterozygous mutations in the COG5 gene (606821.0008 and 606821.0009) by whole-exome sequencing. Each parent was heterozygous for one of the mutations. </p><p>In a 4-year-old Chinese girl with CDG2I, Wang et al. (2020) identified compound heterozygous mutations in the COG5 gene (606821.0010 and 606821.0011) by whole-exome sequencing. The mutations segregated with the disorder in the family. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>11 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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COG5, IVS14AS, T-C, -15
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<br />
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|
|
SNP: rs1562937199,
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|
|
ClinVar: RCV000004208
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 12-year-old Iraqi girl, born of consanguineous parents, with a congenital disorder of glycosylation (CDG2I; 613612), Paesold-Burda et al. (2009) identified a homozygous T-to-C transition in intron 14 of the COG5 gene (1669-15T-C), resulting in altered splicing and a transcript lacking the 58 amino acids of exons 15 and 16. The mutation was not detected in 150 control alleles or 50 alleles from the same geographic region as the patient's family. Low levels of full-length COG5 were detected in patient fibroblasts, but the truncated protein could not be detected, suggesting it was unstable and prone to degradation. The girl exhibited mild hypotonia, mild ataxia, and moderate mental retardation. Brain MRI revealed atrophy of the cerebellum and brainstem. Biochemical analyses of serum transferrin, haptoglobin, and alpha-1-acid glycoprotein revealed defects in both N- and O-glycosylation. Retrograde Golgi-to-endoplasmic reticulum trafficking was markedly delayed in the patient fibroblasts upon brefeldin-A treatment, which is a hallmark of COG deficiency. The trafficking delay could be restored to normal values by expressing a wildtype COG5 cDNA in the patient cells. Paesold-Burda et al. (2009) suggested that CDG should be considered when investigating the basis of even mild neurologic impairments in children. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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COG5, 7-BP DEL/INS, NT556
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<br />
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|
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SNP: rs1800843840,
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ClinVar: RCV001200897
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-year-old Chinese girl with congenital disorder of glycosylation IIi (CDG2I; 613612), Fung et al. (2012) and Rymen et al. (2012)identified compound heterozygous mutations in the COG5 gene: a deletion of AGTAA and an insertion of CT at nucleotide 556 (c.556_560delAGTAAinsCT), resulting in a Ser186_Lys187delinsLeu protein change, and a c.95T-G transversion, resulting in a met32-to-arg (M32R; 606821.0003) substitution. (Fung et al. (2012) had cited the second mutation as a c.1856T-C transversion, resulting in an ile619-to-thr (I619T) substitution). The mutations segregated with the disorder in the family Fung et al. (2012) reported that serum transferrin isoelectric focusing showed a type 2 pattern and serum apolipoprotein C-III showed a decrease in the disialo isoform and an increase in the asialo isoform. Analysis of serum transferrin glycans showed evidence of hyposialylation. Rymen et al. (2012) studied fibroblasts from this patient and found a delay in redistribution of GalT-GFP into the endoplasmic reticulum compared to control, suggesting a defect in retrograde trafficking. Patient fibroblasts also showed a significant decrease in steady-state levels of the COG5 protein compared to control. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</strong>
|
|
</span>
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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COG5, MET32ARG
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<br />
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SNP: rs375702393,
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gnomAD: rs375702393,
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ClinVar: RCV001200898
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the c.95T-G transversion in the COG5 gene, resulting in a met32-to-arg (M32R) substitution, that was found in compound heterozygous state in a Chinese girl with congenital disorder of glycosylation type IIi (CDGIi; 613612) by Rymen et al. (2012), see 606821.0002. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0004 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</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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COG5, COG5, GLU840TER
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<br />
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SNP: rs1798520770,
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ClinVar: RCV001200899
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 Moroccan sibs with congenital disorder of glycosylation IIi (CDG2I; 613612), born to consanguineous parents, Rymen et al. (2012) identified a homozygous c.2518G-T transversion in the COG5 gene, resulting in a glu840-to-ter (E840X) substitution. The mutations were identified by whole-exome sequencing in first sib and confirmed by Sanger sequencing in the second sib. A third sib had clinical features of CDG2I but did not have genetic confirmation. The sibs showed a type 2 pattern on transferrin isoelectric focusing, and analysis of N-glycans of serum transferrin suggested a defect in sialylation and a mild defect in galactosylation. Studies in fibroblasts from one of the sibs showed a significant decrease in steady-state levels of the COG5 protein as well as a delay in redistribution of GalT-GFP into the endoplasmic reticulum compared to controls, suggesting a defect in retrograde trafficking. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</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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COG5, 1-BP DEL, 189G
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<br />
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SNP: rs1554464495,
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ClinVar: RCV000627437, RCV000704542, RCV003965310
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 3-year-old Italian boy with congenital disorder of glycosylation IIi (CDG2I; 613612) Rymen et al. (2012) identified compound heterozygous mutations in the COG5 gene: a 1-bp deletion (c.189delG), resulting in a frameshift and premature termination (Cys64ValfsTer6), and a 3-bp insertion (c.2338_2340dupATT; 606821.0006), resulting in duplication of isoleucine at amino acid position 780 (I780dup). The mutations were identified by Sanger sequencing. The I780dup mutation was not present in the dbSNP or 1000 Genomes Project databases. The patient showed a type 2 pattern on transferrin isoelectric focusing, and analysis of N-glycans of serum transferrin in serum suggested a defect in sialylation and a mild defect in galactosylation. Studies in fibroblasts from this patient showed a significant decrease in steady-state levels of the COG5 protein as well as a delay in redistribution of GalT-GFP into the endoplasmic reticulum compared to controls, suggesting a defect in retrograde trafficking. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</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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COG5, 3-BP DUP, 2338ATT
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<br />
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SNP: rs751641438,
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gnomAD: rs751641438,
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ClinVar: RCV001200901
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the 3-bp insertion (c.2338_2340dupATT) in the COG5 gene, resulting in duplication of isoleucine at amino acid position 780 (I780dup), that was found in a patient with congenital disorder of glycosylation IIi (CDG2I; 613612) by Rymen et al. (2012), see 606821.0005. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0007 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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COG5, VAL594PHE
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<br />
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SNP: rs773453129,
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gnomAD: rs773453129,
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ClinVar: RCV001200902
|
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|
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</span>
|
|
</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 3-year-old Belgian boy with congenital disorder of glycosylation IIi (CDG2I; 613612), Rymen et al. (2012) identified a homozygous c.1780G-T transversion in the COG5 gene, resulting in a val594-to-phe (V594F) substitution The mutation was identified by Sanger sequencing. The patient had a type 2 pattern on transferrin isoelectric focusing, and analysis of N-glycans of serum transferrin in serum suggested a defect in sialylation. Studies in fibroblasts from this patient showed a significant decrease in steady-state levels of the COG5 protein as well as a delay in redistribution of GalT-GFP into the endoplasmic reticulum compared to controls, suggesting a defect in retrograde trafficking. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0008 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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|
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COG5, 1-BP DEL, 330T
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<br />
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SNP: rs1330009938,
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gnomAD: rs1330009938,
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ClinVar: RCV001200903
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In an 11-year-old Chinese boy with congenital disorder of glycosylation IIi (CDG2I; 613612), Yin et al. (2019) identified compound heterozygous mutations in the COG5 gene: a 1-bp deletion (c.330delT, NM_006348.3), predicting a frameshift and a premature termination codon (Val111LeufsTer22), and a c.2324C-T transition, resulting in a pro775-to-leu (P775L; 606821.0009) substitution. Each parent was heterozygous for one of the mutations. Neither mutation was present in the 1000 Genomes Project, ExAC, or gnomAD databases. Functional studies were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
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<span class="mim-text-font">
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|
COG5, PRO775LEU
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<br />
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|
SNP: rs1135401817,
|
|
|
|
|
|
|
|
ClinVar: RCV000496207
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.2324C-T transition (c.2324C-T, NM_006348.3) in the COG5 gene, resulting in a pro775-to-leu (P775L) substitution, that was found in compound heterozygous state in a patient with congenital disorder of glycosylation IIi (CDG2I; 613612) by Yin et al. (2019), see 606821.0008. </p>
|
|
</span>
|
|
</div>
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
COG5, TYR430TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1186766555,
|
|
|
|
|
|
gnomAD: rs1186766555,
|
|
|
|
|
|
ClinVar: RCV001200904, RCV002464409
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4-year-old Chinese girl with congenital disorder of glycosylation IIi (CDG2I; 613612), Wang et al. (2020) identified compound heterozygous mutations in the COG5 gene: a c.1290C-A transversion (c.1290C-A, NM_006348), resulting in a tyr430-to-ter (Y430X) substitution, and a c.2077A-C transversion, resulting in a thr693-to-pro (T693P; 606821.0011) substitution at a highly conserved residue. The mutations were identified by whole-exome sequencing and confirmed by Sanger sequencing. Each parent was heterozygous for one of the mutations. Western blot analysis in patient leukocytes revealed decreased expression of the full-length COG5 protein and the presence of a smaller protein product compared to wildtype. The Y430X mutation had a low frequency in the ExAC, 1000 Genomes Project, and gnomAD databases. The T693P mutation was absent from the 1000 Genomes database and had a low frequency in the ExAC and gnomAD databases. Functional studies were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COG5, THR693PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs751860643,
|
|
|
|
|
|
gnomAD: rs751860643,
|
|
|
|
|
|
ClinVar: RCV001200905
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.2077A-C transversion (c.2077A-C, NM_006348) in the COG5 gene, resulting in a thr693-to-pro (T693P) substitution, that was found in compound heterozygous state in a patient with congenital disorder of glycosylation IIi (CDG2I; 613612) by Wang et al. (2020), see 606821.0010. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
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<div>
|
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Fung, C. W., Matthijs, G., Sturiale, L., Garozzo, D., Wong, K. Y., Wong, R., Wong, V., Jaeken, J.
|
|
<strong>COG5-CDG with a mild neurohepatic presentation.</strong>
|
|
JIMD Rep. 3: 67-70, 2012.
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[PubMed: 23430875]
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[Full Text: https://doi.org/10.1007/8904_2011_61]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Gross, M. B.
|
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<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 3/27/2017.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Paesold-Burda, P., Maag, C., Troxler, H., Foulquier, F., Kleinert, P., Schnabel, S., Baumgartner, M., Hennet, T.
|
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<strong>Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.</strong>
|
|
Hum. Molec. Genet. 18: 4350-4356, 2009.
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[PubMed: 19690088]
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[Full Text: https://doi.org/10.1093/hmg/ddp389]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Rymen, D., Keldermans, L., Race, V., Regal, L., Deconinck, N., Dionisi-Vici, C., Fung, C., Sturiale, L., Rosnoblet, C., Foulquier, F., Matthijs, G., Jaeken, J.
|
|
<strong>COG5-CDG: expanding the clinical spectrum.</strong>
|
|
Orphanet J. Rare Dis. 7: 94, 2012. Note: Electronic Article. Note: Erratum: Orphanet J. Rare Dis. 8: 120 only, 2013.
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[PubMed: 23228021]
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[Full Text: https://doi.org/10.1186/1750-1172-7-94]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ungar, D., Oka, T., Brittle, E. E., Vasile, E., Lupashin, V. V., Chatterton, J. E., Heuser, J. E., Krieger, M., Waters, M. G.
|
|
<strong>Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function.</strong>
|
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J. Cell Biol. 157: 405-415, 2002.
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[PubMed: 11980916]
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[Full Text: https://doi.org/10.1083/jcb.200202016]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Walter, D. M., Paul, K. S., Waters, M. G.
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<strong>Purification and characterization of a novel 13 S hetero oligomeric protein complex that stimulates in vitro Golgi transport.</strong>
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|
J. Biol. Chem. 273: 29565-29576, 1998.
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|
[PubMed: 9792665]
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[Full Text: https://doi.org/10.1074/jbc.273.45.29565]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Wang, X., Han, L., Wang, X.-Y., Wang, J.-H., Li, X.-M., Jin, C.-H., Wang, L.
|
|
<strong>Identification of two novel mutations in COG5 causing congenital disorder of glycosylation.</strong>
|
|
Front. Genet. 11: 168, 2020. Note: Electronic Article.
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[PubMed: 32174980]
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[Full Text: https://doi.org/10.3389/fgene.2020.00168]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Yin, S., Gong, L., Qiu, H., Zhao, Y., Zhang, Y., Liu, C., Jiang, H., Mao, Y., Kong, L.-Y., Liang, B., Lv, Y.
|
|
<strong>Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: a case report.</strong>
|
|
Exp. Ther. Med. 18: 2695-2700, 2019.
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[PubMed: 31572517]
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[Full Text: https://doi.org/10.3892/etm.2019.7834]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 07/07/2020<br>Matthew B. Gross - updated : 03/27/2017<br>George E. Tiller - updated : 10/4/2010<br>Paul J. Converse - updated : 5/23/2002
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</span>
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</div>
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</div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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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 : 4/3/2002
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</span>
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Edit History:
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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 : 01/26/2021<br>carol : 07/09/2020<br>carol : 07/07/2020<br>mgross : 03/27/2017<br>wwang : 10/22/2010<br>terry : 10/4/2010<br>mgross : 5/23/2002<br>carol : 4/3/2002
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