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<title>
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Entry
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- *607905 - ALG2 ALPHA-1,3/1,6-MANNOSYLTRANSFERASE; ALG2
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- OMIM
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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="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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<li class="dropdown-header">
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Advanced Search
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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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</form>
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<div class="row">
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<p />
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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">*607905</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" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</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/607905">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=ENSG00000119523;t=ENST00000476832" 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=85365" 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=607905" 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=ENSG00000119523;t=ENST00000476832" 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_033087,NR_024532,XM_047423996" 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_033087" 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=607905" 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=09716&isoform_id=09716_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/ALG2" 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/14042080,14861836,17389715,22760320,22760793,22761089,37182516,44885912,45502910,45503520,46395991,119579312,119579313,119579314,119579315,193786097,2217381945,2462626986,2462626988" 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/Q9H553" 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=85365" 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=ENSG00000119523;t=ENST00000476832" 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=ALG2" 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=ALG2" 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+85365" 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/ALG2" 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:85365" 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/85365" 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=chr9&hgg_gene=ENST00000476832.2&hgg_start=99216425&hgg_end=99221942&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23159" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:23159" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607905[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=607905[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/ALG2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000119523" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=ALG2" 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=ALG2" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.euroglycanet.org/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ALG2&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/PA134956849" 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:23159" 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/FBgn0035401.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:1914731" 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/ALG2#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:1914731" 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/85365/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=85365" 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=WBGene00017282;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-060502-2" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:85365" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=ALG2&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> 897592003<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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607905
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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ALG2 ALPHA-1,3/1,6-MANNOSYLTRANSFERASE; ALG2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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ALG2, S. CEREVISIAE, HOMOLOG OF
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ALG2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ALG2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/9/356?start=-3&limit=10&highlight=356">9q22.33</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:99216425-99221942&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'})">9:99,216,425-99,221,942</a> </span>
|
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</em>
|
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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Phenotype
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Phenotype <br /> MIM number
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Phenotype <br /> mapping key
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9q22.33
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Congenital disorder of glycosylation, type Ii
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<a href="/entry/607906"> 607906 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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Myasthenic syndrome, congenital, 14, with tubular aggregates
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<a href="/entry/616228"> 616228 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/607905" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/607905" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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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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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>The ALG2 gene encodes an alpha-1,3-mannosyltransferase that catalyzes the second and third mannosylation steps in the N-linked glycosylation pathway (summary by <a href="#1" class="mim-tip-reference" title="Cossins, J., Belaya, K., Hicks, D., Salih, M. A., Finlayson, S., Carboni, N., Liu, W. W., Maxwell, S., Zoltowska, K., Farsani, G. T., Laval, S., Seidhamed, M. Z., WGS500 Consortium, Donnelly, P., Bentley, D., McGowan, S. J., Muller, J., Palace, J., Lochmuller, H., Beeson, D. <strong>Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.</strong> Brain 136: 944-956, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23404334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23404334</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23404334[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awt010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23404334">Cossins et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23404334" 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 searching databases for homologs of yeast Alg2, <a href="#5" class="mim-tip-reference" title="Thiel, C., Schwarz, M., Peng, J., Grzmil, M., Hasilik, M., Braulke, T., Kohlschutter, A., von Figura, K., Lehle, L., Korner, C. <strong>A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.</strong> J. Biol. Chem. 278: 22498-22505, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12684507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12684507</a>] [<a href="https://doi.org/10.1074/jbc.M302850200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12684507">Thiel et al. (2003)</a> identified human ALG2. The predicted 416-amino acid ALG2 protein shares 37% identity with yeast Alg2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12684507" 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 mouse skeletal muscle, <a href="#1" class="mim-tip-reference" title="Cossins, J., Belaya, K., Hicks, D., Salih, M. A., Finlayson, S., Carboni, N., Liu, W. W., Maxwell, S., Zoltowska, K., Farsani, G. T., Laval, S., Seidhamed, M. Z., WGS500 Consortium, Donnelly, P., Bentley, D., McGowan, S. J., Muller, J., Palace, J., Lochmuller, H., Beeson, D. <strong>Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.</strong> Brain 136: 944-956, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23404334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23404334</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23404334[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awt010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23404334">Cossins et al. (2013)</a> found expression of the Alg2 gene at the endplate region of the neuromuscular junction, where it colocalized with alpha-bungarotoxin, consistent with localization at the acetylcholine receptor (AChR). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23404334" 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 genomic sequence analysis, <a href="#5" class="mim-tip-reference" title="Thiel, C., Schwarz, M., Peng, J., Grzmil, M., Hasilik, M., Braulke, T., Kohlschutter, A., von Figura, K., Lehle, L., Korner, C. <strong>A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.</strong> J. Biol. Chem. 278: 22498-22505, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12684507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12684507</a>] [<a href="https://doi.org/10.1074/jbc.M302850200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12684507">Thiel et al. (2003)</a> mapped the ALG2 gene to chromosome 9q22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12684507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Congenital Disorder of Glycosylation Ii</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Thiel, C., Schwarz, M., Peng, J., Grzmil, M., Hasilik, M., Braulke, T., Kohlschutter, A., von Figura, K., Lehle, L., Korner, C. <strong>A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.</strong> J. Biol. Chem. 278: 22498-22505, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12684507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12684507</a>] [<a href="https://doi.org/10.1074/jbc.M302850200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12684507">Thiel et al. (2003)</a> reported a patient with a molecular defect in glycoprotein biosynthesis that affects, at the cytosolic side of the endoplasmic reticulum (ER), the transfer of mannosyl residues from GDP-Man to Man(1)GlcNAc(2)-PP-dolichol by the enzyme ALG2. They designated this disorder congenital disorder of glycosylation (CDG) Ii (<a href="/entry/607906">607906</a>). In this patient, <a href="#5" class="mim-tip-reference" title="Thiel, C., Schwarz, M., Peng, J., Grzmil, M., Hasilik, M., Braulke, T., Kohlschutter, A., von Figura, K., Lehle, L., Korner, C. <strong>A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.</strong> J. Biol. Chem. 278: 22498-22505, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12684507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12684507</a>] [<a href="https://doi.org/10.1074/jbc.M302850200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12684507">Thiel et al. (2003)</a> identified compound heterozygous mutations in the ALG2 gene: a 1-bp deletion (<a href="#0001">607905.0001</a>) and a 1-bp substitution (<a href="#0002">607905.0002</a>). Expression of wildtype but not of mutant ALG2 cDNA restored the mannosyltransferase activity and the biosynthesis of dolichol-linked oligosaccharides both in patient fibroblasts and in yeast cells with an Alg2 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12684507" 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 3 patients, including a sib pair, from unrelated Argentinian families with CDG Ii, <a href="#4" class="mim-tip-reference" title="Papazoglu, G. M., Cubilla, M., Pereyra, M., de Kremer, R. D., Perez, B., Sturiale, L., Asteggiano, C. G. <strong>Mass spectometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.</strong> Glycoconj. J. 38: 191-200, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33644825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33644825</a>] [<a href="https://doi.org/10.1007/s10719-021-09976-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33644825">Papazoglu et al. (2021)</a> identified a homozygous missense mutation in the ALG2 gene (R251L; <a href="#0005">607905.0005</a>). The mutation, which was identified by whole-exome sequencing, was present in heterozygous state in both sets of parents. All 3 patients had abnormal serum transferrin N-glycans and abnormal total serum glycoprotein N-glycans on mass spectrometry analysis, with an overall pattern suggesting serum N-glycan accumulation of high mannosylated glycoforms as a potential diagnostic pattern in patients with CDG Ii. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33644825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Congenital Myasthenic Syndrome 14</em></strong></p><p>
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In 4 sibs, born of consanguineous Saudi Arabian parents, with congenital myasthenic syndrome-14 (CMS14; <a href="/entry/616228">616228</a>), <a href="#1" class="mim-tip-reference" title="Cossins, J., Belaya, K., Hicks, D., Salih, M. A., Finlayson, S., Carboni, N., Liu, W. W., Maxwell, S., Zoltowska, K., Farsani, G. T., Laval, S., Seidhamed, M. Z., WGS500 Consortium, Donnelly, P., Bentley, D., McGowan, S. J., Muller, J., Palace, J., Lochmuller, H., Beeson, D. <strong>Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.</strong> Brain 136: 944-956, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23404334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23404334</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23404334[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awt010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23404334">Cossins et al. (2013)</a> identified a homozygous ins/del mutation in the ALG2 gene (<a href="#0003">607905.0003</a>). The mutation was found by a combination of linkage analysis and exome sequencing and segregated with the disorder in the family. An unrelated patient born of consanguineous Italian patients with a similar disorder was homozygous for a missense mutation in the ALG2 gene (V68G; <a href="#0004">607905.0004</a>); the mutation was found by whole-genome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23404334" 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 3 patients from a large consanguineous Saudi Arabian Bedouin family with CMS14, <a href="#3" class="mim-tip-reference" title="Monies, D. M., Al-Hindi, H. N., Al-Muhaizea, M. A., Jaroudi, D. J., Al-Younes, B., Naim, E. A., Wakil, S. M., Meyer, B. F., Bohlega, S. <strong>Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.</strong> Neuromusc. Disord. 24: 353-359, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24461433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24461433</a>] [<a href="https://doi.org/10.1016/j.nmd.2013.12.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24461433">Monies et al. (2014)</a> identified the same homozygous ins/del mutation in exon 1 of the ALG2 gene as that found by <a href="#1" class="mim-tip-reference" title="Cossins, J., Belaya, K., Hicks, D., Salih, M. A., Finlayson, S., Carboni, N., Liu, W. W., Maxwell, S., Zoltowska, K., Farsani, G. T., Laval, S., Seidhamed, M. Z., WGS500 Consortium, Donnelly, P., Bentley, D., McGowan, S. J., Muller, J., Palace, J., Lochmuller, H., Beeson, D. <strong>Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.</strong> Brain 136: 944-956, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23404334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23404334</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23404334[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awt010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23404334">Cossins et al. (2013)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24461433+23404334" 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 a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), <a href="#2" class="mim-tip-reference" title="Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others. <strong>High-throughput discovery of novel developmental phenotypes.</strong> Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27626380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature19356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27626380">Dickinson et al. (2016)</a> found that knockout of the mouse homolog of human ALG2 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" 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> rs387906281 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906281;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/rs387906281?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=rs387906281" 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=rs387906281" 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 patient with congenital disorder of glycosylation type Ii (CDG1I; <a href="/entry/607906">607906</a>), <a href="#5" class="mim-tip-reference" title="Thiel, C., Schwarz, M., Peng, J., Grzmil, M., Hasilik, M., Braulke, T., Kohlschutter, A., von Figura, K., Lehle, L., Korner, C. <strong>A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.</strong> J. Biol. Chem. 278: 22498-22505, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12684507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12684507</a>] [<a href="https://doi.org/10.1074/jbc.M302850200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12684507">Thiel et al. (2003)</a> identified compound heterozygosity for 2 mutations in the ALG2 gene. One mutation was a 1-bp deletion (G) at nucleotide 1040, and the other was a G-to-T transversion at nucleotide 393 (<a href="#0002">607905.0002</a>). The deletion of 1040G caused a frameshift that altered the sequence after amino acid 346 and led to a premature translation stop at amino acid 372. At the level of RNA, the patient was homozygous for this mutation, indicating that the transcript carrying the 393G-T substitution was unstable. The patient's mother was heterozygous for the 1040G deletion. The father was heterozygous for the 393G-T substitution, and no transcripts with the 393G-T substitution were detected in him. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12684507" 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>For discussion of the c.393G-T mutation in the ALG2 gene that was found in compound heterozygous state in a patient with CDG1I (<a href="/entry/607906">607906</a>) by <a href="#5" class="mim-tip-reference" title="Thiel, C., Schwarz, M., Peng, J., Grzmil, M., Hasilik, M., Braulke, T., Kohlschutter, A., von Figura, K., Lehle, L., Korner, C. <strong>A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.</strong> J. Biol. Chem. 278: 22498-22505, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12684507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12684507</a>] [<a href="https://doi.org/10.1074/jbc.M302850200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12684507">Thiel et al. (2003)</a>, see <a href="#0001">607905.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12684507" 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">rs730882123 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730882123;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=rs730882123" 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=rs730882123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 4 sibs, born of consanguineous Saudi Arabian parents, with congenital myasthenic syndrome-14 (CMS14; <a href="/entry/616228">616228</a>), <a href="#1" class="mim-tip-reference" title="Cossins, J., Belaya, K., Hicks, D., Salih, M. A., Finlayson, S., Carboni, N., Liu, W. W., Maxwell, S., Zoltowska, K., Farsani, G. T., Laval, S., Seidhamed, M. Z., WGS500 Consortium, Donnelly, P., Bentley, D., McGowan, S. J., Muller, J., Palace, J., Lochmuller, H., Beeson, D. <strong>Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.</strong> Brain 136: 944-956, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23404334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23404334</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23404334[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awt010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23404334">Cossins et al. (2013)</a> identified a homozygous indel mutation in exon 1 of the ALG2 gene (c.214_226del/ins), resulting in the replacement of several conserved residues in the glycosyltransferase-4-like domain (p.72_75delGDWLinsSPR). The inserted snippet is the reverse complement of the sequence spanning the mutant locus, but is displaced by 2 nucleotides upstream. The mutation, which was found by a combination of linkage analysis and exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family, and was not found in the dbSNP (build 132), 1000 Genomes Project, or Exome Variant Server databases, or in 96 in-house control exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23404334" 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 3 patients from a large consanguineous Saudi Arabian Bedouin family with CMS14, <a href="#3" class="mim-tip-reference" title="Monies, D. M., Al-Hindi, H. N., Al-Muhaizea, M. A., Jaroudi, D. J., Al-Younes, B., Naim, E. A., Wakil, S. M., Meyer, B. F., Bohlega, S. <strong>Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.</strong> Neuromusc. Disord. 24: 353-359, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24461433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24461433</a>] [<a href="https://doi.org/10.1016/j.nmd.2013.12.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24461433">Monies et al. (2014)</a> identified the same homozygous del/ins mutation in exon 1 of the ALG2 gene as that found by <a href="#1" class="mim-tip-reference" title="Cossins, J., Belaya, K., Hicks, D., Salih, M. A., Finlayson, S., Carboni, N., Liu, W. W., Maxwell, S., Zoltowska, K., Farsani, G. T., Laval, S., Seidhamed, M. Z., WGS500 Consortium, Donnelly, P., Bentley, D., McGowan, S. J., Muller, J., Palace, J., Lochmuller, H., Beeson, D. <strong>Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.</strong> Brain 136: 944-956, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23404334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23404334</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23404334[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awt010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23404334">Cossins et al. (2013)</a>. <a href="#3" class="mim-tip-reference" title="Monies, D. M., Al-Hindi, H. N., Al-Muhaizea, M. A., Jaroudi, D. J., Al-Younes, B., Naim, E. A., Wakil, S. M., Meyer, B. F., Bohlega, S. <strong>Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.</strong> Neuromusc. Disord. 24: 353-359, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24461433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24461433</a>] [<a href="https://doi.org/10.1016/j.nmd.2013.12.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24461433">Monies et al. (2014)</a> reported the numbering as c.214_224del. The mutation, which was found by a combination of linkage analysis and whole-exome sequencing, was confirmed by Sanger sequencing and segregated with the disorder in the family. The families reported by <a href="#3" class="mim-tip-reference" title="Monies, D. M., Al-Hindi, H. N., Al-Muhaizea, M. A., Jaroudi, D. J., Al-Younes, B., Naim, E. A., Wakil, S. M., Meyer, B. F., Bohlega, S. <strong>Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.</strong> Neuromusc. Disord. 24: 353-359, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24461433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24461433</a>] [<a href="https://doi.org/10.1016/j.nmd.2013.12.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24461433">Monies et al. (2014)</a> and <a href="#1" class="mim-tip-reference" title="Cossins, J., Belaya, K., Hicks, D., Salih, M. A., Finlayson, S., Carboni, N., Liu, W. W., Maxwell, S., Zoltowska, K., Farsani, G. T., Laval, S., Seidhamed, M. Z., WGS500 Consortium, Donnelly, P., Bentley, D., McGowan, S. J., Muller, J., Palace, J., Lochmuller, H., Beeson, D. <strong>Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.</strong> Brain 136: 944-956, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23404334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23404334</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23404334[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awt010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23404334">Cossins et al. (2013)</a> both originated from the same small village, suggesting a common founder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24461433+23404334" 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 MYASTHENIC SYNDROME, CONGENITAL, 14</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">rs730882051 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730882051;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=rs730882051" 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=rs730882051" 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=RCV000161141" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000161141" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000161141</a>
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<p>In an man, born of consanguineous Italian parents, with congenital myasthenic syndrome-14 (CMS14; <a href="/entry/616228">616228</a>), <a href="#1" class="mim-tip-reference" title="Cossins, J., Belaya, K., Hicks, D., Salih, M. A., Finlayson, S., Carboni, N., Liu, W. W., Maxwell, S., Zoltowska, K., Farsani, G. T., Laval, S., Seidhamed, M. Z., WGS500 Consortium, Donnelly, P., Bentley, D., McGowan, S. J., Muller, J., Palace, J., Lochmuller, H., Beeson, D. <strong>Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.</strong> Brain 136: 944-956, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23404334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23404334</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23404334[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awt010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23404334">Cossins et al. (2013)</a> identified a homozygous c.203T-G transversion in exon 1 of the ALG2 gene, resulting in a val68-to-gly (V68G) substitution at a conserved residue. Val68 was predicted to localize to the endoplasmic reticulum lumen, and the variant was considered unlikely to affect the catalytic activity of the enzyme. The mutation, which was found by whole-genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not present in the dbSNP (build 137), 1000 Genomes Project, or Exome Variant Server databases. Western blot analysis of patient skeletal muscle and HEK293 cells transfected with the mutation showed severely reduced expression of the mutant protein, about 20% of controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23404334" 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>.0005 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii</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> rs201729325 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201729325;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/rs201729325?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=rs201729325" 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=rs201729325" 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=RCV004565246" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004565246" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004565246</a>
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<p>In 3 patients, including a sib pair, from 2 unrelated Argentinian families with congenital disorder of glycosylation type Ii (CDG1I; <a href="/entry/607906">607906</a>), <a href="#4" class="mim-tip-reference" title="Papazoglu, G. M., Cubilla, M., Pereyra, M., de Kremer, R. D., Perez, B., Sturiale, L., Asteggiano, C. G. <strong>Mass spectometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.</strong> Glycoconj. J. 38: 191-200, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33644825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33644825</a>] [<a href="https://doi.org/10.1007/s10719-021-09976-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33644825">Papazoglu et al. (2021)</a> identified homozygosity for a c.752G-T transversion in the ALG2 gene, resulting in an arg251-to-leu (R251L) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in both sets of parents. All 3 patients had abnormal serum transferrin N-glycans and abnormal total serum glycoprotein N-glycans on mass spectrometry analysis. Clinical features in all 3 patients included seizures and developmental delay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33644825" 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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Cossins, J., Belaya, K., Hicks, D., Salih, M. A., Finlayson, S., Carboni, N., Liu, W. W., Maxwell, S., Zoltowska, K., Farsani, G. T., Laval, S., Seidhamed, M. Z., WGS500 Consortium, Donnelly, P., Bentley, D., McGowan, S. J., Muller, J., Palace, J., Lochmuller, H., Beeson, D.
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<strong>Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.</strong>
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Brain 136: 944-956, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23404334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23404334</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23404334[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=23404334" 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/brain/awt010" target="_blank">Full Text</a>]
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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<strong>High-throughput discovery of novel developmental phenotypes.</strong>
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Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27626380[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=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature19356" target="_blank">Full Text</a>]
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Monies, D. M., Al-Hindi, H. N., Al-Muhaizea, M. A., Jaroudi, D. J., Al-Younes, B., Naim, E. A., Wakil, S. M., Meyer, B. F., Bohlega, S.
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<strong>Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.</strong>
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Neuromusc. Disord. 24: 353-359, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24461433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24461433</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24461433" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Papazoglu, G. M., Cubilla, M., Pereyra, M., de Kremer, R. D., Perez, B., Sturiale, L., Asteggiano, C. G.
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<strong>Mass spectometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.</strong>
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Glycoconj. J. 38: 191-200, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33644825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33644825</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33644825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10719-021-09976-w" target="_blank">Full Text</a>]
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Thiel, C., Schwarz, M., Peng, J., Grzmil, M., Hasilik, M., Braulke, T., Kohlschutter, A., von Figura, K., Lehle, L., Korner, C.
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<strong>A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.</strong>
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J. Biol. Chem. 278: 22498-22505, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12684507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12684507</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12684507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M302850200" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 04/05/2022
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Ada Hamosh - updated : 02/16/2017<br>Cassandra L. Kniffin - updated : 2/18/2015
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/23/2003
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/07/2022
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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 : 04/06/2022<br>carol : 04/05/2022<br>carol : 12/17/2019<br>carol : 02/05/2018<br>alopez : 02/16/2017<br>carol : 04/22/2015<br>ckniffin : 4/21/2015<br>alopez : 2/19/2015<br>ckniffin : 2/18/2015<br>joanna : 1/13/2011<br>mgross : 6/23/2003
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<h3>
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<span class="mim-font">
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<strong>*</strong> 607905
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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ALG2 ALPHA-1,3/1,6-MANNOSYLTRANSFERASE; ALG2
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<br />
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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ALG2, S. CEREVISIAE, HOMOLOG OF
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ALG2</em></strong>
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</span>
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</p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 897592003;
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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: 9q22.33
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:99,216,425-99,221,942 </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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<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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Location
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Phenotype
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</th>
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Phenotype <br /> MIM number
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<th>
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Inheritance
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Phenotype <br /> mapping key
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<td rowspan="2">
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<span class="mim-font">
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9q22.33
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<td>
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<span class="mim-font">
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Congenital disorder of glycosylation, type Ii
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</td>
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<span class="mim-font">
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607906
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<span class="mim-font">
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Autosomal recessive
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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 class="mim-font">
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Myasthenic syndrome, congenital, 14, with tubular aggregates
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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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616228
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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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</td>
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</table>
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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>The ALG2 gene encodes an alpha-1,3-mannosyltransferase that catalyzes the second and third mannosylation steps in the N-linked glycosylation pathway (summary by Cossins et al., 2013). </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 searching databases for homologs of yeast Alg2, Thiel et al. (2003) identified human ALG2. The predicted 416-amino acid ALG2 protein shares 37% identity with yeast Alg2. </p><p>In mouse skeletal muscle, Cossins et al. (2013) found expression of the Alg2 gene at the endplate region of the neuromuscular junction, where it colocalized with alpha-bungarotoxin, consistent with localization at the acetylcholine receptor (AChR). </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 genomic sequence analysis, Thiel et al. (2003) mapped the ALG2 gene to chromosome 9q22. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Congenital Disorder of Glycosylation Ii</em></strong></p><p>
|
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Thiel et al. (2003) reported a patient with a molecular defect in glycoprotein biosynthesis that affects, at the cytosolic side of the endoplasmic reticulum (ER), the transfer of mannosyl residues from GDP-Man to Man(1)GlcNAc(2)-PP-dolichol by the enzyme ALG2. They designated this disorder congenital disorder of glycosylation (CDG) Ii (607906). In this patient, Thiel et al. (2003) identified compound heterozygous mutations in the ALG2 gene: a 1-bp deletion (607905.0001) and a 1-bp substitution (607905.0002). Expression of wildtype but not of mutant ALG2 cDNA restored the mannosyltransferase activity and the biosynthesis of dolichol-linked oligosaccharides both in patient fibroblasts and in yeast cells with an Alg2 mutation. </p><p>In 3 patients, including a sib pair, from unrelated Argentinian families with CDG Ii, Papazoglu et al. (2021) identified a homozygous missense mutation in the ALG2 gene (R251L; 607905.0005). The mutation, which was identified by whole-exome sequencing, was present in heterozygous state in both sets of parents. All 3 patients had abnormal serum transferrin N-glycans and abnormal total serum glycoprotein N-glycans on mass spectrometry analysis, with an overall pattern suggesting serum N-glycan accumulation of high mannosylated glycoforms as a potential diagnostic pattern in patients with CDG Ii. </p><p><strong><em>Congenital Myasthenic Syndrome 14</em></strong></p><p>
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In 4 sibs, born of consanguineous Saudi Arabian parents, with congenital myasthenic syndrome-14 (CMS14; 616228), Cossins et al. (2013) identified a homozygous ins/del mutation in the ALG2 gene (607905.0003). The mutation was found by a combination of linkage analysis and exome sequencing and segregated with the disorder in the family. An unrelated patient born of consanguineous Italian patients with a similar disorder was homozygous for a missense mutation in the ALG2 gene (V68G; 607905.0004); the mutation was found by whole-genome sequencing. </p><p>In 3 patients from a large consanguineous Saudi Arabian Bedouin family with CMS14, Monies et al. (2014) identified the same homozygous ins/del mutation in exon 1 of the ALG2 gene as that found by Cossins et al. (2013). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), Dickinson et al. (2016) found that knockout of the mouse homolog of human ALG2 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii</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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ALG2, 1-BP DEL, 1040G
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<br />
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SNP: rs387906281,
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gnomAD: rs387906281,
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ClinVar: RCV001060196, RCV004562184, RCV004589494
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with congenital disorder of glycosylation type Ii (CDG1I; 607906), Thiel et al. (2003) identified compound heterozygosity for 2 mutations in the ALG2 gene. One mutation was a 1-bp deletion (G) at nucleotide 1040, and the other was a G-to-T transversion at nucleotide 393 (607905.0002). The deletion of 1040G caused a frameshift that altered the sequence after amino acid 346 and led to a premature translation stop at amino acid 372. At the level of RNA, the patient was homozygous for this mutation, indicating that the transcript carrying the 393G-T substitution was unstable. The patient's mother was heterozygous for the 1040G deletion. The father was heterozygous for the 393G-T substitution, and no transcripts with the 393G-T substitution were detected in him. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii</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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ALG2, 393G-T
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<br />
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SNP: rs730880304,
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ClinVar: RCV004562185
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the c.393G-T mutation in the ALG2 gene that was found in compound heterozygous state in a patient with CDG1I (607906) by Thiel et al. (2003), see 607905.0001. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 MYASTHENIC SYNDROME, CONGENITAL, 14</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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ALG2, DEL/INS, NT214
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<br />
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SNP: rs730882123,
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ClinVar: RCV000161140, RCV004791284
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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 4 sibs, born of consanguineous Saudi Arabian parents, with congenital myasthenic syndrome-14 (CMS14; 616228), Cossins et al. (2013) identified a homozygous indel mutation in exon 1 of the ALG2 gene (c.214_226del/ins), resulting in the replacement of several conserved residues in the glycosyltransferase-4-like domain (p.72_75delGDWLinsSPR). The inserted snippet is the reverse complement of the sequence spanning the mutant locus, but is displaced by 2 nucleotides upstream. The mutation, which was found by a combination of linkage analysis and exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family, and was not found in the dbSNP (build 132), 1000 Genomes Project, or Exome Variant Server databases, or in 96 in-house control exomes. </p><p>In 3 patients from a large consanguineous Saudi Arabian Bedouin family with CMS14, Monies et al. (2014) identified the same homozygous del/ins mutation in exon 1 of the ALG2 gene as that found by Cossins et al. (2013). Monies et al. (2014) reported the numbering as c.214_224del. The mutation, which was found by a combination of linkage analysis and whole-exome sequencing, was confirmed by Sanger sequencing and segregated with the disorder in the family. The families reported by Monies et al. (2014) and Cossins et al. (2013) both originated from the same small village, suggesting a common founder. </p>
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<span class="mim-font">
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<strong>.0004 MYASTHENIC SYNDROME, CONGENITAL, 14</strong>
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<span class="mim-text-font">
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ALG2, VAL68GLY
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<br />
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SNP: rs730882051,
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ClinVar: RCV000161141
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<p>In an man, born of consanguineous Italian parents, with congenital myasthenic syndrome-14 (CMS14; 616228), Cossins et al. (2013) identified a homozygous c.203T-G transversion in exon 1 of the ALG2 gene, resulting in a val68-to-gly (V68G) substitution at a conserved residue. Val68 was predicted to localize to the endoplasmic reticulum lumen, and the variant was considered unlikely to affect the catalytic activity of the enzyme. The mutation, which was found by whole-genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not present in the dbSNP (build 137), 1000 Genomes Project, or Exome Variant Server databases. Western blot analysis of patient skeletal muscle and HEK293 cells transfected with the mutation showed severely reduced expression of the mutant protein, about 20% of controls. </p>
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<span class="mim-font">
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<strong>.0005 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii</strong>
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ALG2, ARG251LEU
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SNP: rs201729325,
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gnomAD: rs201729325,
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ClinVar: RCV004565246
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<p>In 3 patients, including a sib pair, from 2 unrelated Argentinian families with congenital disorder of glycosylation type Ii (CDG1I; 607906), Papazoglu et al. (2021) identified homozygosity for a c.752G-T transversion in the ALG2 gene, resulting in an arg251-to-leu (R251L) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in both sets of parents. All 3 patients had abnormal serum transferrin N-glycans and abnormal total serum glycoprotein N-glycans on mass spectrometry analysis. Clinical features in all 3 patients included seizures and developmental delay. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<li>
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<p class="mim-text-font">
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Cossins, J., Belaya, K., Hicks, D., Salih, M. A., Finlayson, S., Carboni, N., Liu, W. W., Maxwell, S., Zoltowska, K., Farsani, G. T., Laval, S., Seidhamed, M. Z., WGS500 Consortium, Donnelly, P., Bentley, D., McGowan, S. J., Muller, J., Palace, J., Lochmuller, H., Beeson, D.
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<strong>Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.</strong>
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Brain 136: 944-956, 2013.
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[PubMed: 23404334]
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[Full Text: https://doi.org/10.1093/brain/awt010]
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</li>
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<li>
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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<strong>High-throughput discovery of novel developmental phenotypes.</strong>
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Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: 27626380]
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[Full Text: https://doi.org/10.1038/nature19356]
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</li>
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<li>
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<p class="mim-text-font">
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Monies, D. M., Al-Hindi, H. N., Al-Muhaizea, M. A., Jaroudi, D. J., Al-Younes, B., Naim, E. A., Wakil, S. M., Meyer, B. F., Bohlega, S.
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<strong>Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.</strong>
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Neuromusc. Disord. 24: 353-359, 2014.
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[PubMed: 24461433]
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[Full Text: https://doi.org/10.1016/j.nmd.2013.12.010]
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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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Papazoglu, G. M., Cubilla, M., Pereyra, M., de Kremer, R. D., Perez, B., Sturiale, L., Asteggiano, C. G.
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<strong>Mass spectometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.</strong>
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Glycoconj. J. 38: 191-200, 2021.
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[PubMed: 33644825]
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[Full Text: https://doi.org/10.1007/s10719-021-09976-w]
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<p class="mim-text-font">
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Thiel, C., Schwarz, M., Peng, J., Grzmil, M., Hasilik, M., Braulke, T., Kohlschutter, A., von Figura, K., Lehle, L., Korner, C.
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<strong>A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.</strong>
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J. Biol. Chem. 278: 22498-22505, 2003.
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[PubMed: 12684507]
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[Full Text: https://doi.org/10.1074/jbc.M302850200]
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 04/05/2022<br>Ada Hamosh - updated : 02/16/2017<br>Cassandra L. Kniffin - updated : 2/18/2015
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Victor A. McKusick : 6/23/2003
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carol : 04/07/2022<br>carol : 04/06/2022<br>carol : 04/05/2022<br>carol : 12/17/2019<br>carol : 02/05/2018<br>alopez : 02/16/2017<br>carol : 04/22/2015<br>ckniffin : 4/21/2015<br>alopez : 2/19/2015<br>ckniffin : 2/18/2015<br>joanna : 1/13/2011<br>mgross : 6/23/2003
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