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<title>
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Entry
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- *605907 - ALG1 CHITOBIOSYLDIPHOSPHODOLICHOL BETA-MANNOSYLTRANSFERASE; ALG1
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- OMIM
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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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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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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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<a href="/search/advanced/geneMap"> Gene Map </a>
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<p>
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<span class="h4">*605907</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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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/605907">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 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=ENSG00000033011;t=ENST00000262374" 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=56052" 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=605907" 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=ENSG00000033011;t=ENST00000262374" 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_001330504,NM_019109,XM_017023457,XR_007064892" 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_019109" 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=605907" 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=10437&isoform_id=10437_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/ALG1" 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/6970470,13325168,21411394,22761417,37183264,41350216,61890349,73921663,119605646,119605647,194389808,1034595306,1059842862,2316779147,2316779149,2316779151,2462549885" 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/Q9BT22" 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=56052" 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=ENSG00000033011;t=ENST00000262374" 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=ALG1" 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=ALG1" 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+56052" 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/ALG1" 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:56052" 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/56052" 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=chr16&hgg_gene=ENST00000262374.10&hgg_start=5071843&hgg_end=5087379&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:18294" 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:18294" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/alg1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605907[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=605907[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/ALG1/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/ENSG00000033011" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=ALG1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=ALG1" 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=ALG1" 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=ALG1&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/PA134979319" 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:18294" 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/FBgn0038552.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:2384774" 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/ALG1#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:2384774" 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/56052/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=56052" 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=WBGene00020820;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-030131-6093" 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:56052" 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=ALG1&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> 720941007<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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605907
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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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ALG1 CHITOBIOSYLDIPHOSPHODOLICHOL BETA-MANNOSYLTRANSFERASE; ALG1
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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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ALG1, YEAST, HOMOLOG OF<br />
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ALG1 ASPARAGINE-LINKED GLYCOSYLATION 1 HOMOLOG<br />
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BETA-1,4 MANNOSYLTRANSFERASE<br />
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HMAT1<br />
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HMT1
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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=ALG1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ALG1</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/16/172?start=-3&limit=10&highlight=172">16p13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:5071843-5087379&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'})">16:5,071,843-5,087,379</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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Congenital disorder of glycosylation, type Ik
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<a href="/entry/608540"> 608540 </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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<li><a href="/graph/linear/605907" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/605907" 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 biosynthesis of lipid-linked oligosaccharides is highly conserved among eukaryotes and is catalyzed by 14 glycosyltransferases in an ordered stepwise manner. Mannosyltransferase I (MT I) catalyzes the first mannosylation step in this process.</p>
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<p>By EST database searching with the S. cerevisiae MT I gene (ALG1) and subsequent screening of a human fetal brain cDNA library, <a href="#7" class="mim-tip-reference" title="Takahashi, T., Honda, R., Nishikawa, Y. <strong>Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1.</strong> Glycobiology 10: 321-327, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10704531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10704531</a>] [<a href="https://doi.org/10.1093/glycob/10.3.321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10704531">Takahashi et al. (2000)</a> isolated a cDNA corresponding to the human homolog, which they called HMAT1. HMAT1 encodes a 464-amino acid protein that shares 36% amino acid identity with the S. cerevisiae and C. elegans gene products. HMAT1 contains a hydrophobic region at the N terminus followed by short hydrophilic and hydrophobic regions. <a href="#7" class="mim-tip-reference" title="Takahashi, T., Honda, R., Nishikawa, Y. <strong>Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1.</strong> Glycobiology 10: 321-327, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10704531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10704531</a>] [<a href="https://doi.org/10.1093/glycob/10.3.321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10704531">Takahashi et al. (2000)</a> demonstrated that HMAT1 complemented the temperature-sensitive phenotype of a yeast strain lacking functional MT I due to an ALG1 mutation, indicating that the function of this enzyme is conserved between yeast and human. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10704531" 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>Mapping</strong>
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<p><a href="#6" class="mim-tip-reference" title="Scott, A. <strong>Personal Communication.</strong> Baltimore, Md. 8/8/2000."None>Scott (2000)</a> mapped the HMAT1 gene to chromosome 16p13.3 based on sequence similarity between the MT1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AB019038" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AB019038</a>) and a chromosome 16 clone (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AC007011" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AC007011</a>).</p>
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<p>In patients with congenital disorder of glycosylation type Ik (<a href="/entry/608540">608540</a>), <a href="#5" class="mim-tip-reference" title="Schwarz, M., Thiel, C., Lubbehusen, J., Dorland, B., de Koning, T., von Figura, K., Lehle, L., Korner, C. <strong>Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.</strong> Am. J. Hum. Genet. 74: 472-481, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14973778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14973778</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14973778[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/382492" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14973778">Schwarz et al. (2004)</a> and <a href="#4" class="mim-tip-reference" title="Kranz, C., Denecke, J., Lehle, L., Sohlbach, K., Jeske, S., Meinhardt, F., Rossi, R., Gudowius, S., Marquardt, T. <strong>Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.</strong> Am. J. Hum. Genet. 74: 545-551, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14973782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14973782</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14973782[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/382493" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14973782">Kranz et al. (2004)</a> identified mutations in the ALG1 gene (<a href="#0001">605907.0001</a>-<a href="#0002">605907.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14973778+14973782" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Grubenmann, C. E., Frank, C. G., Hulsmeier, A. J., Schollen, E., Matthijs, G., Mayatepek, E., Berger, E. G., Aebi, M., Hennet, T. <strong>Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.</strong> Hum. Molec. Genet. 13: 535-542, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14709599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14709599</a>] [<a href="https://doi.org/10.1093/hmg/ddh050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14709599">Grubenmann et al. (2004)</a> used a fluorescent method to detect accumulation of dolichylpyrophosphate-GlcNAc2 in a previously untyped CDG patient. The accumulation pattern suggested a deficiency of the ALG1 beta-1,4 mannosyltransferase. Sequence analysis identified compound heterozygosity for 2 mutations in the ALG1 gene (see <a href="#0003">605907.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14709599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 unrelated French patients with CDG type Ik, <a href="#1" class="mim-tip-reference" title="Dupre, T., Vuillaumier-Barrot, S., Chantret, I., Sadou Yaye, H., Le Bizec, C., Afenjar, A., Altuzarra, C., Barnerias, C., Burglen, L., de Lonlay, P., Feillet, F., Napuri, S., Seta, N., Moore, S. E. H. <strong>Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.</strong> J. Med. Genet. 47: 729-735, 2010. Note: Erratum: J. Med. Genet. 52: 216 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20679665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20679665</a>] [<a href="https://doi.org/10.1136/jmg.2009.072504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20679665">Dupre et al. (2010)</a> identified homozygous or compound heterozygous mutations in the ALG1 gene, including 7 novel mutations (see, e.g., <a href="#0004">605907.0004</a>-<a href="#0007">605907.0007</a>). The phenotype was severe, with neurologic impairment in all patients and dysmorphic features in 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20679665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with CDG Ik and nephrotic syndrome, <a href="#3" class="mim-tip-reference" title="Harshman, L. A., Ng, B. G., Freeze, H. H., Trapane, P., Dolezal, A., Brophy, P. D., Brumbaugh, J. E. <strong>Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.</strong> Pediat. Int. 58: 785-788, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27325525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27325525</a>] [<a href="https://doi.org/10.1111/ped.12988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27325525">Harshman et al. (2016)</a> identified homozygosity for the previously identified S258L mutation in the ALG1 gene (<a href="#0001">605907.0001</a>). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27325525" 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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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>7 Selected Examples</a>):</strong>
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<a href="/allelicVariants/605907" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605907[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik</strong>
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ALG1, SER258LEU (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28939378;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs28939378</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28939378 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28939378;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/rs28939378?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=rs28939378" 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=rs28939378" 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=RCV000004989 OR RCV000081987 OR RCV000210565 OR RCV000606536 OR RCV000655875 OR RCV001526585 OR RCV003483423" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004989, RCV000081987, RCV000210565, RCV000606536, RCV000655875, RCV001526585, RCV003483423" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004989...</a>
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<p>In a patient with congenital disorder of glycosylation type Ik (CDG1K; <a href="/entry/608540">608540</a>), <a href="#5" class="mim-tip-reference" title="Schwarz, M., Thiel, C., Lubbehusen, J., Dorland, B., de Koning, T., von Figura, K., Lehle, L., Korner, C. <strong>Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.</strong> Am. J. Hum. Genet. 74: 472-481, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14973778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14973778</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14973778[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/382492" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14973778">Schwarz et al. (2004)</a> identified a homozygous 773C-T transition in exon 7 of the ALG1 gene, resulting in a ser258-to-leu (S258L) substitution. Both parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14973778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with CDG Ik, <a href="#4" class="mim-tip-reference" title="Kranz, C., Denecke, J., Lehle, L., Sohlbach, K., Jeske, S., Meinhardt, F., Rossi, R., Gudowius, S., Marquardt, T. <strong>Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.</strong> Am. J. Hum. Genet. 74: 545-551, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14973782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14973782</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14973782[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/382493" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14973782">Kranz et al. (2004)</a> identified homozygosity for the S258L mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14973782" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with CDG Ik and nephrotic syndrome, <a href="#3" class="mim-tip-reference" title="Harshman, L. A., Ng, B. G., Freeze, H. H., Trapane, P., Dolezal, A., Brophy, P. D., Brumbaugh, J. E. <strong>Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.</strong> Pediat. Int. 58: 785-788, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27325525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27325525</a>] [<a href="https://doi.org/10.1111/ped.12988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27325525">Harshman et al. (2016)</a> identified homozygosity for the S258L mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27325525" 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 patient with congenital disorder of glycosylation type Ik (CDG1K; <a href="/entry/608540">608540</a>), <a href="#4" class="mim-tip-reference" title="Kranz, C., Denecke, J., Lehle, L., Sohlbach, K., Jeske, S., Meinhardt, F., Rossi, R., Gudowius, S., Marquardt, T. <strong>Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.</strong> Am. J. Hum. Genet. 74: 545-551, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14973782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14973782</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14973782[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/382493" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14973782">Kranz et al. (2004)</a> identified compound heterozygosity for mutations in the ALG1 gene: a 1025A-C transversion, resulting in a glu342-to-pro (E342P) substitution, and S258L (<a href="#0001">605907.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14973782" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik</strong>
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<p>In a patient with congenital disorder of glycosylation type Ik (CDG1K; <a href="/entry/608540">608540</a>), <a href="#2" class="mim-tip-reference" title="Grubenmann, C. E., Frank, C. G., Hulsmeier, A. J., Schollen, E., Matthijs, G., Mayatepek, E., Berger, E. G., Aebi, M., Hennet, T. <strong>Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.</strong> Hum. Molec. Genet. 13: 535-542, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14709599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14709599</a>] [<a href="https://doi.org/10.1093/hmg/ddh050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14709599">Grubenmann et al. (2004)</a> identified compound heterozygosity for mutations in the ALG1 gene: a 450C-G transversion in exon 4, resulting in a ser150-to-arg (S150R) substitution, and S258L (<a href="#0001">605907.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14709599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik</strong>
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<p>In a patient with congenital disorder of glycosylation type Ik (CDG1K; <a href="/entry/608540">608540</a>), <a href="#1" class="mim-tip-reference" title="Dupre, T., Vuillaumier-Barrot, S., Chantret, I., Sadou Yaye, H., Le Bizec, C., Afenjar, A., Altuzarra, C., Barnerias, C., Burglen, L., de Lonlay, P., Feillet, F., Napuri, S., Seta, N., Moore, S. E. H. <strong>Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.</strong> J. Med. Genet. 47: 729-735, 2010. Note: Erratum: J. Med. Genet. 52: 216 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20679665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20679665</a>] [<a href="https://doi.org/10.1136/jmg.2009.072504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20679665">Dupre et al. (2010)</a> identified a homozygous 1129A-G transition in exon 11 of the ALG1 gene, resulting in a met377-to-val (M377V) substitution in a conserved residue. The mutation was not found in 164 control alleles. Detailed biochemical studies in patient cell lines showed an accumulation of the second intermediate in the biosynthesis of LLO, GlcNAc2-PP-dolichol, as well as a selective defect of MT1 activity (less than 10% of wildtype). The phenotype was severe, with neurologic impairment and dysmorphic features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20679665" 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 Ik</strong>
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<p>In a patient with congenital disorder of glycosylation type Ik (CDG1K; <a href="/entry/608540">608540</a>), <a href="#1" class="mim-tip-reference" title="Dupre, T., Vuillaumier-Barrot, S., Chantret, I., Sadou Yaye, H., Le Bizec, C., Afenjar, A., Altuzarra, C., Barnerias, C., Burglen, L., de Lonlay, P., Feillet, F., Napuri, S., Seta, N., Moore, S. E. H. <strong>Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.</strong> J. Med. Genet. 47: 729-735, 2010. Note: Erratum: J. Med. Genet. 52: 216 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20679665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20679665</a>] [<a href="https://doi.org/10.1136/jmg.2009.072504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20679665">Dupre et al. (2010)</a> identified compound heterozygosity for 2 mutations in the ALG1 gene: a 434G-A transition in exon 4, resulting in a gly145-to-asp (G145D) substitution, and S258L (<a href="#0001">605907.0001</a>). Neither mutation was found in 164 control alleles. Detailed biochemical studies in patient cell lines showed an accumulation of the second intermediate in the biosynthesis of LLO, GlcNAc2-PP-dolichol, as well as a selective defect of MT1 activity (less than 10% of wildtype). The phenotype was severe, with neurologic impairment and dysmorphic features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20679665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik</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> rs387906927 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906927;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/rs387906927?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=rs387906927" 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=rs387906927" 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=RCV000023495" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023495" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023495</a>
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<p>In a patient with congenital disorder of glycosylation type Ik (CDG1K; <a href="/entry/608540">608540</a>), <a href="#1" class="mim-tip-reference" title="Dupre, T., Vuillaumier-Barrot, S., Chantret, I., Sadou Yaye, H., Le Bizec, C., Afenjar, A., Altuzarra, C., Barnerias, C., Burglen, L., de Lonlay, P., Feillet, F., Napuri, S., Seta, N., Moore, S. E. H. <strong>Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.</strong> J. Med. Genet. 47: 729-735, 2010. Note: Erratum: J. Med. Genet. 52: 216 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20679665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20679665</a>] [<a href="https://doi.org/10.1136/jmg.2009.072504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20679665">Dupre et al. (2010)</a> identified compound heterozygosity for 2 mutations in the ALG1 gene: a 1263G-A transition in exon 12, resulting in a cys396-to-ter (C396X) substitution, and an 826C-T transition in exon 7, resulting in an arg276-to-trp (R276W; <a href="#0007">605907.0007</a>) substitution. The mutations were not found in 164 control alleles. Detailed biochemical studies in patient cell lines showed an accumulation of the second intermediate in the biosynthesis of LLO, GlcNAc2-PP-dolichol, as well as a selective defect of MT1 activity (less than 10% of wildtype). The phenotype was severe, with neurologic impairment and dysmorphic features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20679665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik</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> rs151173406 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs151173406;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/rs151173406?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=rs151173406" 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=rs151173406" 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=RCV000023496 OR RCV000851250 OR RCV001562717" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023496, RCV000851250, RCV001562717" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023496...</a>
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<p>For discussion of the arg276-to-trp (R276W) mutation in the ALG1 gene that was found in compound heterozygous state in a patient with congenital disorder of glycosylation type Ik (CDG1K; <a href="/entry/608540">608540</a>) by <a href="#1" class="mim-tip-reference" title="Dupre, T., Vuillaumier-Barrot, S., Chantret, I., Sadou Yaye, H., Le Bizec, C., Afenjar, A., Altuzarra, C., Barnerias, C., Burglen, L., de Lonlay, P., Feillet, F., Napuri, S., Seta, N., Moore, S. E. H. <strong>Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.</strong> J. Med. Genet. 47: 729-735, 2010. Note: Erratum: J. Med. Genet. 52: 216 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20679665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20679665</a>] [<a href="https://doi.org/10.1136/jmg.2009.072504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20679665">Dupre et al. (2010)</a>, see <a href="#0006">605907.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20679665" 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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<a id="Dupre2010" class="mim-anchor"></a>
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Dupre, T., Vuillaumier-Barrot, S., Chantret, I., Sadou Yaye, H., Le Bizec, C., Afenjar, A., Altuzarra, C., Barnerias, C., Burglen, L., de Lonlay, P., Feillet, F., Napuri, S., Seta, N., Moore, S. E. H.
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<strong>Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.</strong>
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J. Med. Genet. 47: 729-735, 2010. Note: Erratum: J. Med. Genet. 52: 216 only, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20679665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20679665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20679665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2009.072504" target="_blank">Full Text</a>]
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Grubenmann, C. E., Frank, C. G., Hulsmeier, A. J., Schollen, E., Matthijs, G., Mayatepek, E., Berger, E. G., Aebi, M., Hennet, T.
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<strong>Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.</strong>
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Hum. Molec. Genet. 13: 535-542, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14709599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14709599</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14709599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddh050" target="_blank">Full Text</a>]
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<a id="Harshman2016" class="mim-anchor"></a>
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Harshman, L. A., Ng, B. G., Freeze, H. H., Trapane, P., Dolezal, A., Brophy, P. D., Brumbaugh, J. E.
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<strong>Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.</strong>
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Pediat. Int. 58: 785-788, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27325525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27325525</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27325525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/ped.12988" target="_blank">Full Text</a>]
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Kranz, C., Denecke, J., Lehle, L., Sohlbach, K., Jeske, S., Meinhardt, F., Rossi, R., Gudowius, S., Marquardt, T.
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<strong>Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.</strong>
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Am. J. Hum. Genet. 74: 545-551, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14973782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14973782</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14973782[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=14973782" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/382493" target="_blank">Full Text</a>]
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Schwarz, M., Thiel, C., Lubbehusen, J., Dorland, B., de Koning, T., von Figura, K., Lehle, L., Korner, C.
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<strong>Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.</strong>
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Am. J. Hum. Genet. 74: 472-481, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14973778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14973778</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14973778[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=14973778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/382492" target="_blank">Full Text</a>]
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Scott, A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 8/8/2000.
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Takahashi, T., Honda, R., Nishikawa, Y.
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<strong>Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1.</strong>
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Glycobiology 10: 321-327, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10704531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10704531</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10704531" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Sonja A. Rasmussen - updated : 04/16/2019
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Cassandra L. Kniffin - updated : 1/11/2012<br>George E. Tiller - updated : 12/1/2006<br>Cassandra L. Kniffin - updated : 3/22/2004
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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 : 12/30/2019<br>carol : 04/16/2019<br>carol : 08/11/2016<br>carol : 07/22/2015<br>mcolton : 7/20/2015<br>carol : 1/12/2012<br>ckniffin : 1/11/2012<br>joanna : 1/13/2011<br>wwang : 12/7/2006<br>terry : 12/1/2006<br>tkritzer : 3/25/2004<br>ckniffin : 3/22/2004<br>ckniffin : 3/22/2004<br>carol : 5/9/2001<br>cwells : 5/9/2001<br>cwells : 5/7/2001
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</span>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 605907
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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ALG1 CHITOBIOSYLDIPHOSPHODOLICHOL BETA-MANNOSYLTRANSFERASE; ALG1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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ALG1, YEAST, HOMOLOG OF<br />
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ALG1 ASPARAGINE-LINKED GLYCOSYLATION 1 HOMOLOG<br />
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BETA-1,4 MANNOSYLTRANSFERASE<br />
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HMAT1<br />
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HMT1
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ALG1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 720941007;
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</span>
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</p>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 16p13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:5,071,843-5,087,379 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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16p13.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Congenital disorder of glycosylation, type Ik
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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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608540
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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 biosynthesis of lipid-linked oligosaccharides is highly conserved among eukaryotes and is catalyzed by 14 glycosyltransferases in an ordered stepwise manner. Mannosyltransferase I (MT I) catalyzes the first mannosylation step in this process.</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 EST database searching with the S. cerevisiae MT I gene (ALG1) and subsequent screening of a human fetal brain cDNA library, Takahashi et al. (2000) isolated a cDNA corresponding to the human homolog, which they called HMAT1. HMAT1 encodes a 464-amino acid protein that shares 36% amino acid identity with the S. cerevisiae and C. elegans gene products. HMAT1 contains a hydrophobic region at the N terminus followed by short hydrophilic and hydrophobic regions. Takahashi et al. (2000) demonstrated that HMAT1 complemented the temperature-sensitive phenotype of a yeast strain lacking functional MT I due to an ALG1 mutation, indicating that the function of this enzyme is conserved between yeast and human. </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>Scott (2000) mapped the HMAT1 gene to chromosome 16p13.3 based on sequence similarity between the MT1 sequence (GenBank AB019038) and a chromosome 16 clone (GenBank AC007011).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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|
<p>In patients with congenital disorder of glycosylation type Ik (608540), Schwarz et al. (2004) and Kranz et al. (2004) identified mutations in the ALG1 gene (605907.0001-605907.0002). </p><p>Grubenmann et al. (2004) used a fluorescent method to detect accumulation of dolichylpyrophosphate-GlcNAc2 in a previously untyped CDG patient. The accumulation pattern suggested a deficiency of the ALG1 beta-1,4 mannosyltransferase. Sequence analysis identified compound heterozygosity for 2 mutations in the ALG1 gene (see 605907.0003). </p><p>In 5 unrelated French patients with CDG type Ik, Dupre et al. (2010) identified homozygous or compound heterozygous mutations in the ALG1 gene, including 7 novel mutations (see, e.g., 605907.0004-605907.0007). The phenotype was severe, with neurologic impairment in all patients and dysmorphic features in 4. </p><p>In a patient with CDG Ik and nephrotic syndrome, Harshman et al. (2016) identified homozygosity for the previously identified S258L mutation in the ALG1 gene (605907.0001). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. </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>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>7 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
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|
|
ALG1, SER258LEU ({dbSNP rs28939378})
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|
|
|
<br />
|
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|
|
SNP: rs28939378,
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|
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|
|
gnomAD: rs28939378,
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|
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ClinVar: RCV000004989, RCV000081987, RCV000210565, RCV000606536, RCV000655875, RCV001526585, RCV003483423
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|
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|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital disorder of glycosylation type Ik (CDG1K; 608540), Schwarz et al. (2004) identified a homozygous 773C-T transition in exon 7 of the ALG1 gene, resulting in a ser258-to-leu (S258L) substitution. Both parents were heterozygous for the mutation. </p><p>In a patient with CDG Ik, Kranz et al. (2004) identified homozygosity for the S258L mutation. </p><p>In a patient with CDG Ik and nephrotic syndrome, Harshman et al. (2016) identified homozygosity for the S258L mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ALG1, GLU342PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267606651,
|
|
|
|
|
|
gnomAD: rs267606651,
|
|
|
|
|
|
ClinVar: RCV000004990, RCV001091535, RCV002512789
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital disorder of glycosylation type Ik (CDG1K; 608540), Kranz et al. (2004) identified compound heterozygosity for mutations in the ALG1 gene: a 1025A-C transversion, resulting in a glu342-to-pro (E342P) substitution, and S258L (605907.0001). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ALG1, SER150ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908340,
|
|
|
|
|
|
gnomAD: rs121908340,
|
|
|
|
|
|
ClinVar: RCV000004991
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital disorder of glycosylation type Ik (CDG1K; 608540), Grubenmann et al. (2004) identified compound heterozygosity for mutations in the ALG1 gene: a 450C-G transversion in exon 4, resulting in a ser150-to-arg (S150R) substitution, and S258L (605907.0001). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ALG1, MET377VAL
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<br />
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|
|
SNP: rs387906925,
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gnomAD: rs387906925,
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ClinVar: RCV000023493
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</span>
|
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</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital disorder of glycosylation type Ik (CDG1K; 608540), Dupre et al. (2010) identified a homozygous 1129A-G transition in exon 11 of the ALG1 gene, resulting in a met377-to-val (M377V) substitution in a conserved residue. The mutation was not found in 164 control alleles. Detailed biochemical studies in patient cell lines showed an accumulation of the second intermediate in the biosynthesis of LLO, GlcNAc2-PP-dolichol, as well as a selective defect of MT1 activity (less than 10% of wildtype). The phenotype was severe, with neurologic impairment and dysmorphic features. </p>
|
|
</span>
|
|
</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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ALG1, GLY145ASP
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|
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<br />
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|
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SNP: rs387906926,
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ClinVar: RCV000023494
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</span>
|
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</div>
|
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital disorder of glycosylation type Ik (CDG1K; 608540), Dupre et al. (2010) identified compound heterozygosity for 2 mutations in the ALG1 gene: a 434G-A transition in exon 4, resulting in a gly145-to-asp (G145D) substitution, and S258L (605907.0001). Neither mutation was found in 164 control alleles. Detailed biochemical studies in patient cell lines showed an accumulation of the second intermediate in the biosynthesis of LLO, GlcNAc2-PP-dolichol, as well as a selective defect of MT1 activity (less than 10% of wildtype). The phenotype was severe, with neurologic impairment and dysmorphic features. </p>
|
|
</span>
|
|
</div>
|
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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ALG1, CYS396TER
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<br />
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|
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SNP: rs387906927,
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gnomAD: rs387906927,
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ClinVar: RCV000023495
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</span>
|
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</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital disorder of glycosylation type Ik (CDG1K; 608540), Dupre et al. (2010) identified compound heterozygosity for 2 mutations in the ALG1 gene: a 1263G-A transition in exon 12, resulting in a cys396-to-ter (C396X) substitution, and an 826C-T transition in exon 7, resulting in an arg276-to-trp (R276W; 605907.0007) substitution. The mutations were not found in 164 control alleles. Detailed biochemical studies in patient cell lines showed an accumulation of the second intermediate in the biosynthesis of LLO, GlcNAc2-PP-dolichol, as well as a selective defect of MT1 activity (less than 10% of wildtype). The phenotype was severe, with neurologic impairment and dysmorphic features. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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ALG1, ARG276TRP
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<br />
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SNP: rs151173406,
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gnomAD: rs151173406,
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ClinVar: RCV000023496, RCV000851250, RCV001562717
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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 arg276-to-trp (R276W) mutation in the ALG1 gene that was found in compound heterozygous state in a patient with congenital disorder of glycosylation type Ik (CDG1K; 608540) by Dupre et al. (2010), see 605907.0006. </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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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Dupre, T., Vuillaumier-Barrot, S., Chantret, I., Sadou Yaye, H., Le Bizec, C., Afenjar, A., Altuzarra, C., Barnerias, C., Burglen, L., de Lonlay, P., Feillet, F., Napuri, S., Seta, N., Moore, S. E. H.
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<strong>Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.</strong>
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J. Med. Genet. 47: 729-735, 2010. Note: Erratum: J. Med. Genet. 52: 216 only, 2015.
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[PubMed: 20679665]
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[Full Text: https://doi.org/10.1136/jmg.2009.072504]
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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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Grubenmann, C. E., Frank, C. G., Hulsmeier, A. J., Schollen, E., Matthijs, G., Mayatepek, E., Berger, E. G., Aebi, M., Hennet, T.
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<strong>Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.</strong>
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Hum. Molec. Genet. 13: 535-542, 2004.
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[PubMed: 14709599]
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[Full Text: https://doi.org/10.1093/hmg/ddh050]
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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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Harshman, L. A., Ng, B. G., Freeze, H. H., Trapane, P., Dolezal, A., Brophy, P. D., Brumbaugh, J. E.
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<strong>Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.</strong>
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Pediat. Int. 58: 785-788, 2016.
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[PubMed: 27325525]
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[Full Text: https://doi.org/10.1111/ped.12988]
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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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Kranz, C., Denecke, J., Lehle, L., Sohlbach, K., Jeske, S., Meinhardt, F., Rossi, R., Gudowius, S., Marquardt, T.
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<strong>Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.</strong>
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Am. J. Hum. Genet. 74: 545-551, 2004.
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[PubMed: 14973782]
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[Full Text: https://doi.org/10.1086/382493]
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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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Schwarz, M., Thiel, C., Lubbehusen, J., Dorland, B., de Koning, T., von Figura, K., Lehle, L., Korner, C.
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<strong>Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.</strong>
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Am. J. Hum. Genet. 74: 472-481, 2004.
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[PubMed: 14973778]
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[Full Text: https://doi.org/10.1086/382492]
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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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Scott, A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 8/8/2000.
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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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Takahashi, T., Honda, R., Nishikawa, Y.
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<strong>Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1.</strong>
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Glycobiology 10: 321-327, 2000.
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[PubMed: 10704531]
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[Full Text: https://doi.org/10.1093/glycob/10.3.321]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 04/16/2019<br>Cassandra L. Kniffin - updated : 1/11/2012<br>George E. Tiller - updated : 12/1/2006<br>Cassandra L. Kniffin - updated : 3/22/2004
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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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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Dawn Watkins-Chow : 5/4/2001
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</span>
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</div>
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Edit History:
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carol : 01/02/2020<br>carol : 12/30/2019<br>carol : 04/16/2019<br>carol : 08/11/2016<br>carol : 07/22/2015<br>mcolton : 7/20/2015<br>carol : 1/12/2012<br>ckniffin : 1/11/2012<br>joanna : 1/13/2011<br>wwang : 12/7/2006<br>terry : 12/1/2006<br>tkritzer : 3/25/2004<br>ckniffin : 3/22/2004<br>ckniffin : 3/22/2004<br>carol : 5/9/2001<br>cwells : 5/9/2001<br>cwells : 5/7/2001
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