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<title>
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Entry
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- *105850 - ANGIOGENIN; ANG
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- OMIM
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<div id="mimSearch" class="hidden-print">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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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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</form>
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<p />
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</div>
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*105850</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 role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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="#geneFunction">Gene Function</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/105850">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=ENSG00000214274;t=ENST00000397990" 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=283" 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=105850" 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=ENSG00000214274;t=ENST00000397990" 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_001097577,NM_001145,NM_001385271,NM_001385272,NM_001385273,NM_001385274" 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_001097577" 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=105850" 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=00105&isoform_id=00105_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/ANG" 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/113873,178250,4557313,18307843,18307845,18307847,18307849,18307851,33392770,38540937,47115203,116283648,119586854,119586855,148277046,189054181,209365570,573014358,1869902982,1869903627,1869903810,1869903847" 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/P03950" 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=283" 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=ENSG00000214274;t=ENST00000397990" 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=ANG" 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=ANG" 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+283" 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/ANG" 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:283" 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/283" 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=chr14&hgg_gene=ENST00000397990.5&hgg_start=20684177&hgg_end=20694186&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
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<span class="small">
|
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
|
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:483" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=105850[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=105850[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000214274" 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=ANG" 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=ANG" 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=ANG" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ANG&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/PA24790" 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:483" 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://www.mousephenotype.org/data/search?q=MGI:104984 MGI:1201793 MGI:2656551 MGI:3528599 MGI:3528602 MGI:88022" 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/ANG#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/batch/summary?idType=MGI&ids=MGI:104984 MGI:1201793 MGI:2656551 MGI:3528599 MGI:3528602 MGI:88022" 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/283/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=283" 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>
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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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
|
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:283" 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=ANG&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> 1204351003<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
105850
|
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</span>
|
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</span>
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</div>
|
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
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|
|
ANGIOGENIN; ANG
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</span>
|
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</h3>
|
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</div>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
RIBONUCLEASE A FAMILY, 5; RNASE5
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ANG" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ANG</a></em></strong>
|
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</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/14/35?start=-3&limit=10&highlight=35">14q11.2</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:20684177-20694186&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'})">14:20,684,177-20,694,186</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/14/35?start=-3&limit=10&highlight=35">
|
|
14q11.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Amyotrophic lateral sclerosis 9
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/611895"> 611895 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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<p>The ANG gene encodes angiogenin, a 14.1-kD protein that is a potent inducer of neovascularization in vivo. ANG is a member of the pancreatic ribonuclease A superfamily, and RNase activity of ANG is important for its angiogenic activity. ANG is expressed in the neuroaxis. Endogenous ANG is required for cell proliferation induced by other angiogenic proteins such as vascular endothelial growth factor (VEGF; <a href="/entry/192240">192240</a>). Like VEGF, ANG is induced by hypoxia to elicit angiogenesis and is expressed in motor neurons (<a href="#10" class="mim-tip-reference" title="Lambrechts, D., Storkebaum, E., Morimoto, M., Del-Favero, J., Desmet, F., Marklund, S. L., Wyns, S., Thijs, V., Andersson, J., van Marion, I., Al-Chalabi, A., Bornes, S., and 22 others. <strong>VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death.</strong> Nature Genet. 34: 383-394, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12847526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12847526</a>] [<a href="https://doi.org/10.1038/ng1211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12847526">Lambrechts et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12847526" 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>Angiogenin was isolated from growth medium conditioned by human colon cancer cells. <a href="#13" class="mim-tip-reference" title="Rybak, S. M., Fett, J. W., Yao, Q.-Z., Vallee, B. L. <strong>Angiogenin mRNA in human tumor and normal cells.</strong> Biochem. Biophys. Res. Commun. 146: 1240-1248, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3619929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3619929</a>] [<a href="https://doi.org/10.1016/0006-291x(87)90781-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3619929">Rybak et al. (1987)</a> demonstrated that angiogenin mRNA is expressed in a wide spectrum of cells and is not correlated to a particular cell phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3619929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Strydom, D. J., Fett, J. W., Lobb, R. R., Alderman, E. M., Bethune, J. L., Riordan, J. F., Vallee, B. L. <strong>Amino acid sequence of human tumor derived angiogenin.</strong> Biochemistry 24: 5486-5495, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2866794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2866794</a>] [<a href="https://doi.org/10.1021/bi00341a031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2866794">Strydom et al. (1985)</a> determined the complete amino acid sequence of angiogenin, and <a href="#9" class="mim-tip-reference" title="Kurachi, K., Davie, E. W., Strydom, D. J., Riordan, J. F., Vallee, B. L. <strong>Sequence of the cDNA and gene for angiogenin, a human angiogenesis factor.</strong> Biochemistry 24: 5494-5499, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2866795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2866795</a>] [<a href="https://doi.org/10.1021/bi00341a032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2866795">Kurachi et al. (1985)</a> determined the nucleotide sequence of the ANG gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2866794+2866795" 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>Angiogenin is a homolog of pancreatic ribonuclease (RNASE1; <a href="/entry/180440">180440</a>) which, like angiogenin, is encoded by a gene on chromosome 14. As an initial step toward investigating the in vivo functional role of angiogenin via gene disruption, <a href="#1" class="mim-tip-reference" title="Brown, W. E., Nobile, V., Subramanian, V., Shapiro, R. <strong>The mouse angiogenin gene family: structures of an angiogenin-related protein gene and two pseudogenes.</strong> Genomics 29: 200-206, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530072</a>] [<a href="https://doi.org/10.1006/geno.1995.1232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530072">Brown et al. (1995)</a> isolated the Ang gene from mouse strain 129. Unexpectedly, screening of a genomic library with an Ang gene probe obtained previously from the BALB/c strain yielded not Ang itself but 2 new genes closely similar to Ang. One of the genes encodes a protein with 78% sequence identity to angiogenin and was designated Angrp for 'angiogenin-related protein.' The ribonucleolytic active site of angiogenin, which is critical for angiogenic activity, was completely conserved in Angrp, whereas a second essential site, thought to bind cellular receptors, was considerably different. Thus, the Angrp product may have a function distinct from that of angiogenin. The second gene was a pseudogene that contained a frameshift mutation in the early part of the coding region. Although the Ang gene was not isolated from the BALB/c library, it was possible to amplify this gene from a strain 129 mouse genomic DNA by PCR. Sequence analysis showed that the strain 129 Ang gene is identical to the BALB/c gene throughout the coding region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530072" 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="#20" class="mim-tip-reference" title="Wu, D., Yu, W., Kishikawa, H., Folkerth, R. D., Iafrate, A. J., Shen, Y., Xin, W., Sims, K., Hu, G. <strong>Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis.</strong> Ann. Neurol. 62: 609-617, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17886298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17886298</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17886298[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/10.1002/ana.21221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17886298">Wu et al. (2007)</a> found strong ANG expression in the nucleus and cytoplasm of spinal cord ventral horn neurons of both human fetal and adult tissue specimens. ANG expression was detected in the extracellular matrix and interstitial tissue, consistent with it being a secreted protein, and ANG localized to spinal cord endothelial cells, suggesting a role in angiogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17886298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Hooper, L. V., Stappenbeck, T. S., Hong, C. V., Gordon, J. I. <strong>Angiogenins: a new class of microbicidal proteins involved in innate immunity.</strong> Nature Immun. 4: 269-273, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12548285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12548285</a>] [<a href="https://doi.org/10.1038/ni888" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12548285">Hooper et al. (2003)</a> reviewed the evidence that angiogenins are involved in host defense and noted that inflammation provokes upregulated ANG mRNA expression in liver and an increase in detectable ANG protein in serum. Unlike the single ANG gene found in humans, other primates, and rats, there are 2 genes in cattle and 4 in mice. The expression of mouse Ang4, produced by Paneth cells, is regulated by components of the normal murine intestinal flora. All the Ang proteins are derived from precursors with approximately 145 amino acids. Mature Ang4, Ang1, and ANG contain 120, 121, and 123 residues, respectively. Unlike Ang4, mouse Ang1 and human ANG, which share 77% amino acid identity, lack bactericidal activity against Enterococcus faecalis or Listeria monocytogenes. However, Ang1 and ANG, but not Ang4, have potent activity against Candida albicans and Streptococcus pneumoniae at concentrations comparable to those found in serum. <a href="#8" class="mim-tip-reference" title="Hooper, L. V., Stappenbeck, T. S., Hong, C. V., Gordon, J. I. <strong>Angiogenins: a new class of microbicidal proteins involved in innate immunity.</strong> Nature Immun. 4: 269-273, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12548285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12548285</a>] [<a href="https://doi.org/10.1038/ni888" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12548285">Hooper et al. (2003)</a> concluded that ANG is an important systemic antimicrobial protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12548285" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using yeast 2-hybrid and in vitro protein-binding assays, <a href="#3" class="mim-tip-reference" title="Gao, X., Hu, H., Zhu, J., Xu, Z. <strong>Identification and characterization of follistatin as a novel angiogenin-binding protein.</strong> FEBS Lett. 581: 5505-5510, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17991437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17991437</a>] [<a href="https://doi.org/10.1016/j.febslet.2007.10.059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17991437">Gao et al. (2007)</a> showed that follistatin (FST; <a href="/entry/136470">136470</a>) bound ANG. When expressed individually, fluorescence-tagged FST and ANG showed diffuse nuclear localization in transfected HeLa cells. However, when FST and ANG were expressed together, they colocalized in a punctate distribution within nuclei. Mutation analysis showed that domains 2 and 3 of FST were required for ANG binding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17991437" 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>Weremowicz et al. (<a href="#19" class="mim-tip-reference" title="Weremowicz, S., Fox, E. A., Morton, C. C. <strong>Assignment of human angiogenin gene to chromosome 14q11-q13. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1107 only, 1989."None>1989</a>, <a href="#18" class="mim-tip-reference" title="Weremowicz, S., Fox, E. A., Morton, C. C., Vallee, B. L. <strong>Localization of the human angiogenin gene to chromosome band 14q11, proximal to the T cell receptor alpha/delta locus.</strong> Am. J. Hum. Genet. 47: 973-981, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1978563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1978563</a>]" pmid="1978563">1990</a>) assigned the human angiogenin gene to chromosome 14q11 by study of somatic cell hybrids and in situ hybridization. By study of cells containing a translocation t(11;14), they showed that the angiogenin gene is proximal to the translocation breakpoint, which is within the T-cell receptor alpha (see <a href="/entry/186880">186880</a>)/delta (see <a href="/entry/186810">186810</a>) locus. <a href="#14" class="mim-tip-reference" title="Steinhelper, M. E., Field, L. J. <strong>Assignment of the angiogenin gene to mouse chromosome 14 using a rapid PCR-RFLP mapping technique.</strong> Genomics 12: 177-179, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1346389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1346389</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90427-t" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1346389">Steinhelper and Field (1992)</a> mapped the Ang gene to mouse chromosome 14 by use of a PCR-RFLP mapping technique in connection with recombinant inbred strains. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1978563+1346389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Hayward, C., Colville, S., Swingler, R. J., Brock, D. J. H. <strong>Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis.</strong> Neurology 52: 1899-1901, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10371543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10371543</a>] [<a href="https://doi.org/10.1212/wnl.52.9.1899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10371543">Hayward et al. (1999)</a> and <a href="#5" class="mim-tip-reference" title="Greenway, M. J., Alexander, M. D., Ennis, S., Traynor, B. J., Corr, B., Frost, E., Green, A., Hardiman, O. <strong>A novel candidate region for ALS on chromosome 14q11.2.</strong> Neurology 63: 1936-1938, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15557516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15557516</a>] [<a href="https://doi.org/10.1212/01.wnl.0000144344.39103.f6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15557516">Greenway et al. (2004)</a> identified 14q11.2 as a candidate region for amyotrophic lateral sclerosis (ALS9; <a href="/entry/611895">611895</a>) in Irish and Scottish populations and reported an association of a synonymous SNP in the ANG gene (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs11701;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs11701</a>) in the Irish population with ALS. <a href="#6" class="mim-tip-reference" title="Greenway, M. J., Andersen, P. M., Russ, C., Ennis, S., Cashman, S., Donaghy, C., Patterson, V., Swingler, R., Kieran, D., Prehn, J., Morrison, K. E., Green, A., Acharya, K. R., Brown, R. H., Jr., Hardiman, O. <strong>ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.</strong> Nature Genet. 38: 411-413, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16501576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16501576</a>] [<a href="https://doi.org/10.1038/ng1742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16501576">Greenway et al. (2006)</a> genotyped the <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs11701;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs11701</a> in 1,629 individuals with ALS and 1,264 controls from 5 independent populations and confirmed the association in Irish and Scottish populations with ALS, although no association was observed in populations from the U.S., England, or Sweden. Sequencing of the coding sequence of ANG and 40 bp of flanking region in the same 1,629 individuals with ALS and in 1,264 controls identified 7 heterozygous missense mutations (<a href="#0001">105850.0001</a>-<a href="#0007">105850.0007</a>) in 15 individuals, of whom 4 had familial and 11 'sporadic' ALS. Although mutations were present in individuals from all 5 populations, 12 of 15 affected individuals were of Scottish or Irish descent. All patients enrolled in the study had typical ALS, although a higher than expected proportion (60%) of individuals with ANG mutations had bulbar-onset disease. Common haplotypes were observed across the ANG locus and flanking region in Irish and Scottish individuals with K17I (<a href="#0002">105850.0002</a>) and K40I (<a href="#0006">105850.0006</a>) mutations, indicative of a founder effect. <a href="#6" class="mim-tip-reference" title="Greenway, M. J., Andersen, P. M., Russ, C., Ennis, S., Cashman, S., Donaghy, C., Patterson, V., Swingler, R., Kieran, D., Prehn, J., Morrison, K. E., Green, A., Acharya, K. R., Brown, R. H., Jr., Hardiman, O. <strong>ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.</strong> Nature Genet. 38: 411-413, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16501576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16501576</a>] [<a href="https://doi.org/10.1038/ng1742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16501576">Greenway et al. (2006)</a> also found a unique shared haplotype for the K17E mutation (<a href="#0003">105850.0003</a>) in individuals of Swedish and northern Irish ethnicity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10371543+15557516+16501576" 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="#10" class="mim-tip-reference" title="Lambrechts, D., Storkebaum, E., Morimoto, M., Del-Favero, J., Desmet, F., Marklund, S. L., Wyns, S., Thijs, V., Andersson, J., van Marion, I., Al-Chalabi, A., Bornes, S., and 22 others. <strong>VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death.</strong> Nature Genet. 34: 383-394, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12847526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12847526</a>] [<a href="https://doi.org/10.1038/ng1211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12847526">Lambrechts et al. (2003)</a> found ALS at-risk haplotypes in the VEGF promoter and leader sequence that result in reduced VEGF transcription in Swedish and English populations with ALS. Although VEGF is a putative modifier of ALS, mutations in that gene had not been found in individuals with ALS. By contrast, the study of <a href="#6" class="mim-tip-reference" title="Greenway, M. J., Andersen, P. M., Russ, C., Ennis, S., Cashman, S., Donaghy, C., Patterson, V., Swingler, R., Kieran, D., Prehn, J., Morrison, K. E., Green, A., Acharya, K. R., Brown, R. H., Jr., Hardiman, O. <strong>ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.</strong> Nature Genet. 38: 411-413, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16501576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16501576</a>] [<a href="https://doi.org/10.1038/ng1742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16501576">Greenway et al. (2006)</a> identified ANG mutations as a clear susceptibility factor for the development of ALS, particularly in individuals of Irish or Scottish descent. The findings provided further evidence that variations in hypoxia-inducible genes have an important role in ALS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12847526+16501576" 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 4 unrelated North American patients with ALS, <a href="#20" class="mim-tip-reference" title="Wu, D., Yu, W., Kishikawa, H., Folkerth, R. D., Iafrate, A. J., Shen, Y., Xin, W., Sims, K., Hu, G. <strong>Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis.</strong> Ann. Neurol. 62: 609-617, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17886298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17886298</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17886298[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/10.1002/ana.21221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17886298">Wu et al. (2007)</a> identified 4 different heterozygous mutations in the ANG gene (see, e.g., <a href="#0008">105850.0008</a>-<a href="#0009">105850.0009</a>), including the previously reported K17I mutation. Functional expression studies showed loss of angiogenic function of all mutant proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17886298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using yeast tRNA as substrate in a ribonucleolytic activity assay, <a href="#2" class="mim-tip-reference" title="Crabtree, B., Thiyagarajan, N., Prior, S. H., Wilson, P., Iyer, S., Ferns, T., Shapiro, R., Brew, K., Subramanian, V., Acharya, K. R. <strong>Characterization of human angiogenin variants implicated in amyotrophic lateral sclerosis.</strong> Biochemistry 46: 11810-11818, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17900154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17900154</a>] [<a href="https://doi.org/10.1021/bi701333h" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17900154">Crabtree et al. (2007)</a> demonstrated that 6 mutant ANG proteins (<a href="#0001">105850.0001</a>-<a href="#0003">105850.0003</a>; <a href="#0005">105850.0005</a>-<a href="#0007">105850.0007</a>) showed substantially decreased activity, ranging from less than 1% (K40I) to 19% (K17E) of controls. The R31K (<a href="#0004">105850.0004</a>) mutation did not show such a decrease in activity. Some of the mutant enzymes showed decreased thermal stability, and 3 variants tested showed a decrease in cell proliferative and angiogenic activities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17900154" 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="#4" class="mim-tip-reference" title="Gellera, C., Colombrita, C., Ticozzi, N., Castellotti, B., Bragato, C., Ratti, A., Taroni, F., Silani, V. <strong>Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis.</strong> Neurogenetics 9: 33-40, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18087731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18087731</a>] [<a href="https://doi.org/10.1007/s10048-007-0111-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18087731">Gellera et al. (2008)</a> identified 7 different ANG mutations (see, e.g., <a href="#0010">105850.0010</a>) in 9 (1.2%) of 737 Italian patients with ALS. The mutational frequency was higher among patients with familial disease (2.3%) compared to those with sporadic disease (1.0%). <a href="#4" class="mim-tip-reference" title="Gellera, C., Colombrita, C., Ticozzi, N., Castellotti, B., Bragato, C., Ratti, A., Taroni, F., Silani, V. <strong>Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis.</strong> Neurogenetics 9: 33-40, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18087731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18087731</a>] [<a href="https://doi.org/10.1007/s10048-007-0111-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18087731">Gellera et al. (2008)</a> found no association between ALS and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs11701;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs11701</a> in their cohort, which included 515 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18087731" 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="#12" class="mim-tip-reference" title="Paubel, A., Violette, J., Amy, M., Praline, J., Meininger, V., Camu, W., Corcia, P., Andres, C. R., Vourc'h, P. <strong>Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis.</strong> Arch. Neurol. 65: 1333-1336, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18852347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18852347</a>] [<a href="https://doi.org/10.1001/archneur.65.10.1333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18852347">Paubel et al. (2008)</a> identified 2 different mutations (see, e.g., <a href="#0007">105850.0007</a>) in 3 of 855 French patients with sporadic ALS. They did not observe an association between <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs11701;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs11701</a> and the disorder in their cohort. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18852347" 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="#16" class="mim-tip-reference" title="Subramanian, V., Crabtree, B., Acharya, K. R. <strong>Human angiogenin is a neuroprotective factor and amyotrophic lateral sclerosis associated angiogenin variants affect neurite extension/pathfinding and survival of motor neurons.</strong> Hum. Molec. Genet. 17: 130-149, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17916583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17916583</a>] [<a href="https://doi.org/10.1093/hmg/ddm290" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17916583">Subramanian et al. (2008)</a> found that wildtype and mutant ANG, including Q12L (<a href="#0001">105850.0001</a>), C39W (<a href="#0005">105850.0005</a>), and K40I (<a href="#0006">105850.0006</a>) showed substantial loss of ribonucleolytic activity compared to wildtype ANG. All 3 variants were taken up and internalized in the nuclei of pluripotent P19 embryonal carcinoma murine cells, a model of neuroectodermal differentiation. P19 cells differentiated to form neurons, but the ability of the neurites to extend and make contacts with neighboring neurites was compromised when treated with mutant ANG. The mutant ANG variants also had a cytotoxic effect on motor neurons, leading to their degeneration. Wildtype ANG was able to protect neurons from hypoxia-induced cell death, but the mutant variants lacked this neuroprotective activity. The findings showed that ANG plays an important role in neurite extension/pathfinding and survival, providing a causal link between mutations in ANG and ALS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17916583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121909536 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909536;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/rs121909536?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=rs121909536" 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=rs121909536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an Irish and an Irish/Scottish patient with amyotrophic lateral sclerosis (ALS9; <a href="/entry/611895">611895</a>), <a href="#6" class="mim-tip-reference" title="Greenway, M. J., Andersen, P. M., Russ, C., Ennis, S., Cashman, S., Donaghy, C., Patterson, V., Swingler, R., Kieran, D., Prehn, J., Morrison, K. E., Green, A., Acharya, K. R., Brown, R. H., Jr., Hardiman, O. <strong>ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.</strong> Nature Genet. 38: 411-413, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16501576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16501576</a>] [<a href="https://doi.org/10.1038/ng1742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16501576">Greenway et al. (2006)</a> identified a heterozygous 122A-T transversion in the ANG gene, resulting in a lys17-to-ile (K17I) substitution. Both patients had onset at 53 years with involvement of the limbs. A common haplotype was observed across the ANG locus and flanking region in these individuals, indicative of a founder effect. The K17I mutation was also found in an apparently healthy 65-year-old male of European descent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16501576" 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="#20" class="mim-tip-reference" title="Wu, D., Yu, W., Kishikawa, H., Folkerth, R. D., Iafrate, A. J., Shen, Y., Xin, W., Sims, K., Hu, G. <strong>Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis.</strong> Ann. Neurol. 62: 609-617, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17886298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17886298</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17886298[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/10.1002/ana.21221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17886298">Wu et al. (2007)</a> identified heterozygosity for the K17I mutation in a North American patient with ALS. In vitro functional expression studies showed that the mutant protein had less than 5% residual ribonucleolytic activity and complete loss of angiogenic function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17886298" 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="#17" class="mim-tip-reference" title="Van Es, M. A., Diekstra, F. P., Veldink, J. H., Baas, F., Bourque, P. R., Schelhaas, H. J., Strengman, E., Hennekam, E. A. M., Lindhout, D., Ophoff, R. A., van den Berg, L. H. <strong>A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.</strong> Neurology 72: 287-288, 2009. Note: Erratum: Neurology 72: 774 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19153377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19153377</a>] [<a href="https://doi.org/10.1212/01.wnl.0000339487.84908.00" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19153377">Van Es et al. (2009)</a> reported a 4-generation family in which ALS segregated with the K17I mutation. Affected individuals had classic signs of the disorder, but 1 patient presented with parkinsonism and later developed signs of frontotemporal dementia. One obligate carrier did not develop the disease by age 75, indicating incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19153377" 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="#11" class="mim-tip-reference" title="Millecamps, S., Salachas, F., Cazeneuve, C., Gordon, P., Bricka, B., Camuzat, A., Guillot-Noel, L., Russaouen, O., Bruneteau, G., Pradat, P.-F., Le Forestier, N., Vandenberghe, N., and 14 others. <strong>SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.</strong> J. Med. Genet. 47: 554-560, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20577002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20577002</a>] [<a href="https://doi.org/10.1136/jmg.2010.077180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20577002">Millecamps et al. (2010)</a> identified the K17I mutation in 2 (0.6%) of 162 French probands with familial ALS. Both showed dominant inheritance. However, 1 of the K17I carriers was also found to carry a heterozygous mutation in the FUS gene (R521C; <a href="/entry/137070#0004">137070.0004</a>), which causes ALS6 (<a href="/entry/608030">608030</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20577002" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909537 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909537;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121909537" 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=rs121909537" 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=RCV000019701" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019701" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019701</a>
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<p>In an individual of Swedish ethnicity and 1 of northern Irish ethnicity with amyotrophic lateral sclerosis (ALS9; <a href="/entry/611895">611895</a>), <a href="#6" class="mim-tip-reference" title="Greenway, M. J., Andersen, P. M., Russ, C., Ennis, S., Cashman, S., Donaghy, C., Patterson, V., Swingler, R., Kieran, D., Prehn, J., Morrison, K. E., Green, A., Acharya, K. R., Brown, R. H., Jr., Hardiman, O. <strong>ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.</strong> Nature Genet. 38: 411-413, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16501576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16501576</a>] [<a href="https://doi.org/10.1038/ng1742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16501576">Greenway et al. (2006)</a> identified a heterozygous 121A-G transition in the ANG gene, resulting in a lys17-to-glu (K17E) substitution. The individuals shared a unique haplotype for the K17E mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16501576" 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 AMYOTROPHIC LATERAL SCLEROSIS 9</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">rs121909538 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909538;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121909538" 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=rs121909538" 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=RCV000019702" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019702" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019702</a>
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<p>In an individual of Irish/English descent with a sporadic case of amyotrophic lateral sclerosis (ALS9; <a href="/entry/611895">611895</a>), <a href="#6" class="mim-tip-reference" title="Greenway, M. J., Andersen, P. M., Russ, C., Ennis, S., Cashman, S., Donaghy, C., Patterson, V., Swingler, R., Kieran, D., Prehn, J., Morrison, K. E., Green, A., Acharya, K. R., Brown, R. H., Jr., Hardiman, O. <strong>ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.</strong> Nature Genet. 38: 411-413, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16501576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16501576</a>] [<a href="https://doi.org/10.1038/ng1742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16501576">Greenway et al. (2006)</a> identified a heterozygous 164G-A transition in the ANG gene, resulting in an arg31-to-lys (R31K) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16501576" 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 AMYOTROPHIC LATERAL SCLEROSIS 9</strong>
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ANG, CYS39TRP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909539 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909539;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121909539" 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=rs121909539" 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=RCV000019703" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019703" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019703</a>
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<p><a href="#6" class="mim-tip-reference" title="Greenway, M. J., Andersen, P. M., Russ, C., Ennis, S., Cashman, S., Donaghy, C., Patterson, V., Swingler, R., Kieran, D., Prehn, J., Morrison, K. E., Green, A., Acharya, K. R., Brown, R. H., Jr., Hardiman, O. <strong>ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.</strong> Nature Genet. 38: 411-413, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16501576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16501576</a>] [<a href="https://doi.org/10.1038/ng1742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16501576">Greenway et al. (2006)</a> identified heterozygosity for a 189C-G transversion in the ANG gene, resulting in a cys39-to-trp (C39W) substitution, in 2 familial cases of amyotrophic lateral sclerosis (ALS9; <a href="/entry/611895">611895</a>) with European ethnicity. In each case 3 members of the family were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16501576" 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 AMYOTROPHIC LATERAL SCLEROSIS 9</strong>
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ANG, LYS40ILE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909540 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909540;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121909540" 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=rs121909540" 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=RCV000019704" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019704" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019704</a>
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<p>In 3 individuals with amyotrophic lateral sclerosis (ALS9; <a href="/entry/611895">611895</a>), 2 Irish and 1 Scottish, <a href="#6" class="mim-tip-reference" title="Greenway, M. J., Andersen, P. M., Russ, C., Ennis, S., Cashman, S., Donaghy, C., Patterson, V., Swingler, R., Kieran, D., Prehn, J., Morrison, K. E., Green, A., Acharya, K. R., Brown, R. H., Jr., Hardiman, O. <strong>ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.</strong> Nature Genet. 38: 411-413, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16501576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16501576</a>] [<a href="https://doi.org/10.1038/ng1742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16501576">Greenway et al. (2006)</a> identified a heterozygous 191A-T transversion in the ANG gene, resulting in a lys40-to-ile (K40I) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16501576" 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 AMYOTROPHIC LATERAL SCLEROSIS 9</strong>
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ANG, ILE46VAL
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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> rs121909541 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909541;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/rs121909541?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=rs121909541" 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=rs121909541" 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=RCV000019705 OR RCV000335176 OR RCV001659725 OR RCV003974847" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019705, RCV000335176, RCV001659725, RCV003974847" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019705...</a>
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<p>In 3 Scottish individuals with amyotrophic lateral sclerosis (ALS9; <a href="/entry/611895">611895</a>), <a href="#6" class="mim-tip-reference" title="Greenway, M. J., Andersen, P. M., Russ, C., Ennis, S., Cashman, S., Donaghy, C., Patterson, V., Swingler, R., Kieran, D., Prehn, J., Morrison, K. E., Green, A., Acharya, K. R., Brown, R. H., Jr., Hardiman, O. <strong>ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.</strong> Nature Genet. 38: 411-413, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16501576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16501576</a>] [<a href="https://doi.org/10.1038/ng1742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16501576">Greenway et al. (2006)</a> identified a heterozygous 208A-G transition in the ANG gene, resulting in an ile46-to-val (I46V) substitution. Two of the cases were familial. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16501576" 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="#4" class="mim-tip-reference" title="Gellera, C., Colombrita, C., Ticozzi, N., Castellotti, B., Bragato, C., Ratti, A., Taroni, F., Silani, V. <strong>Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis.</strong> Neurogenetics 9: 33-40, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18087731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18087731</a>] [<a href="https://doi.org/10.1007/s10048-007-0111-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18087731">Gellera et al. (2008)</a> identified the I46V mutation in 6 Italian ALS patients and 4 controls (0.8% in both groups), suggesting that it is a rare polymorphism in the Italian population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18087731" 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="#12" class="mim-tip-reference" title="Paubel, A., Violette, J., Amy, M., Praline, J., Meininger, V., Camu, W., Corcia, P., Andres, C. R., Vourc'h, P. <strong>Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis.</strong> Arch. Neurol. 65: 1333-1336, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18852347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18852347</a>] [<a href="https://doi.org/10.1001/archneur.65.10.1333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18852347">Paubel et al. (2008)</a> identified the I46V mutation in 2 of 855 French patients with sporadic ALS. The mutation was found in 0.2% of healthy controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18852347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121909542 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909542;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/rs121909542?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=rs121909542" 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=rs121909542" 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=RCV000019706" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019706" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019706</a>
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<p>In a North American patient with amyotrophic lateral sclerosis (ALS9; <a href="/entry/611895">611895</a>), <a href="#20" class="mim-tip-reference" title="Wu, D., Yu, W., Kishikawa, H., Folkerth, R. D., Iafrate, A. J., Shen, Y., Xin, W., Sims, K., Hu, G. <strong>Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis.</strong> Ann. Neurol. 62: 609-617, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17886298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17886298</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17886298[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/10.1002/ana.21221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17886298">Wu et al. (2007)</a> identified a heterozygous G-to-A transition in the ANG gene, resulting in a ser28-to-asn (S28N) substitution adjacent to the nuclear localization sequence of the protein. In vitro functional expression studies showed that the mutant protein had 9% residual ribonucleolytic activity with complete loss of angiogenic function. The mutant protein was unable to translocate to the nucleus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17886298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121909543 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909543;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/rs121909543?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=rs121909543" 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=rs121909543" 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=RCV000019707 OR RCV003398548 OR RCV003565384" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019707, RCV003398548, RCV003565384" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019707...</a>
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<p>In a North American patient with amyotrophic lateral sclerosis (ALS9; <a href="/entry/611895">611895</a>), <a href="#20" class="mim-tip-reference" title="Wu, D., Yu, W., Kishikawa, H., Folkerth, R. D., Iafrate, A. J., Shen, Y., Xin, W., Sims, K., Hu, G. <strong>Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis.</strong> Ann. Neurol. 62: 609-617, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17886298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17886298</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17886298[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/10.1002/ana.21221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17886298">Wu et al. (2007)</a> identified a heterozygous C-to-T transition in the ANG gene, resulting in a pro112-to-leu (P112L) substitution. In vitro functional expression studies showed that the mutant protein had 14% residual ribonucleolytic activity with complete loss of angiogenic function. The mutant protein was unable to translocate to the nucleus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17886298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909544 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909544;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121909544" 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=rs121909544" 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=RCV000019708" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019708" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019708</a>
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<p>In 2 Italian sibs and their mother with amyotrophic lateral sclerosis (ALS9; <a href="/entry/611895">611895</a>), <a href="#4" class="mim-tip-reference" title="Gellera, C., Colombrita, C., Ticozzi, N., Castellotti, B., Bragato, C., Ratti, A., Taroni, F., Silani, V. <strong>Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis.</strong> Neurogenetics 9: 33-40, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18087731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18087731</a>] [<a href="https://doi.org/10.1007/s10048-007-0111-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18087731">Gellera et al. (2008)</a> identified a heterozygous 409G-A transition in the ANG gene, resulting in a val113-to-ile (V113I) substitution. The mutation was also identified in an unrelated patient with sporadic ALS who had a predominantly upper motor neuron phenotype. The mutation was not identified in 515 control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18087731" 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>The mouse angiogenin gene family: structures of an angiogenin-related protein gene and two pseudogenes.</strong>
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Genomics 29: 200-206, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530072</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1995.1232" target="_blank">Full Text</a>]
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<strong>Characterization of human angiogenin variants implicated in amyotrophic lateral sclerosis.</strong>
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Biochemistry 46: 11810-11818, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17900154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17900154</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17900154" 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/10.1021/bi701333h" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17886298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17886298</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17886298[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=17886298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.21221" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 9/27/2010
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 9/11/2009<br>Cassandra L. Kniffin - updated : 4/14/2009<br>Cassandra L. Kniffin - updated : 3/12/2009<br>Patricia A. Hartz - updated : 12/12/2008<br>Cassandra L. Kniffin - updated : 4/2/2008<br>Victor A. McKusick - updated : 4/27/2006<br>Paul J. Converse - updated : 3/20/2003
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 4/25/1988
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 03/19/2019
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carol : 03/18/2019<br>carol : 03/18/2019<br>alopez : 03/15/2019<br>mgross : 10/04/2013<br>carol : 10/14/2011<br>carol : 2/11/2011<br>wwang : 9/29/2010<br>ckniffin : 9/27/2010<br>wwang : 12/1/2009<br>ckniffin : 11/13/2009<br>wwang : 10/6/2009<br>ckniffin : 9/11/2009<br>wwang : 4/28/2009<br>ckniffin : 4/14/2009<br>wwang : 3/18/2009<br>ckniffin : 3/12/2009<br>mgross : 12/12/2008<br>wwang : 4/16/2008<br>ckniffin : 4/2/2008<br>wwang : 4/2/2008<br>ckniffin : 3/14/2008<br>terry : 5/15/2007<br>alopez : 5/2/2006<br>terry : 4/27/2006<br>mgross : 3/20/2003<br>psherman : 8/24/1999<br>dholmes : 9/16/1997<br>mark : 10/3/1995<br>supermim : 3/16/1992<br>carol : 1/6/1992<br>carol : 11/6/1991<br>carol : 2/11/1991<br>carol : 12/19/1990
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<span class="mim-font">
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<strong>*</strong> 105850
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ANGIOGENIN; ANG
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<em>Alternative titles; symbols</em>
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RIBONUCLEASE A FAMILY, 5; RNASE5
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ANG</em></strong>
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<strong>SNOMEDCT:</strong> 1204351003;
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Cytogenetic location: 14q11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 14:20,684,177-20,694,186 </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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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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14q11.2
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<span class="mim-font">
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Amyotrophic lateral sclerosis 9
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<span class="mim-font">
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611895
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>The ANG gene encodes angiogenin, a 14.1-kD protein that is a potent inducer of neovascularization in vivo. ANG is a member of the pancreatic ribonuclease A superfamily, and RNase activity of ANG is important for its angiogenic activity. ANG is expressed in the neuroaxis. Endogenous ANG is required for cell proliferation induced by other angiogenic proteins such as vascular endothelial growth factor (VEGF; 192240). Like VEGF, ANG is induced by hypoxia to elicit angiogenesis and is expressed in motor neurons (Lambrechts et al., 2003). </p>
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<strong>Cloning and Expression</strong>
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<p>Angiogenin was isolated from growth medium conditioned by human colon cancer cells. Rybak et al. (1987) demonstrated that angiogenin mRNA is expressed in a wide spectrum of cells and is not correlated to a particular cell phenotype. </p><p>Strydom et al. (1985) determined the complete amino acid sequence of angiogenin, and Kurachi et al. (1985) determined the nucleotide sequence of the ANG gene. </p><p>Angiogenin is a homolog of pancreatic ribonuclease (RNASE1; 180440) which, like angiogenin, is encoded by a gene on chromosome 14. As an initial step toward investigating the in vivo functional role of angiogenin via gene disruption, Brown et al. (1995) isolated the Ang gene from mouse strain 129. Unexpectedly, screening of a genomic library with an Ang gene probe obtained previously from the BALB/c strain yielded not Ang itself but 2 new genes closely similar to Ang. One of the genes encodes a protein with 78% sequence identity to angiogenin and was designated Angrp for 'angiogenin-related protein.' The ribonucleolytic active site of angiogenin, which is critical for angiogenic activity, was completely conserved in Angrp, whereas a second essential site, thought to bind cellular receptors, was considerably different. Thus, the Angrp product may have a function distinct from that of angiogenin. The second gene was a pseudogene that contained a frameshift mutation in the early part of the coding region. Although the Ang gene was not isolated from the BALB/c library, it was possible to amplify this gene from a strain 129 mouse genomic DNA by PCR. Sequence analysis showed that the strain 129 Ang gene is identical to the BALB/c gene throughout the coding region. </p><p>Wu et al. (2007) found strong ANG expression in the nucleus and cytoplasm of spinal cord ventral horn neurons of both human fetal and adult tissue specimens. ANG expression was detected in the extracellular matrix and interstitial tissue, consistent with it being a secreted protein, and ANG localized to spinal cord endothelial cells, suggesting a role in angiogenesis. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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<span class="mim-text-font">
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<p>Hooper et al. (2003) reviewed the evidence that angiogenins are involved in host defense and noted that inflammation provokes upregulated ANG mRNA expression in liver and an increase in detectable ANG protein in serum. Unlike the single ANG gene found in humans, other primates, and rats, there are 2 genes in cattle and 4 in mice. The expression of mouse Ang4, produced by Paneth cells, is regulated by components of the normal murine intestinal flora. All the Ang proteins are derived from precursors with approximately 145 amino acids. Mature Ang4, Ang1, and ANG contain 120, 121, and 123 residues, respectively. Unlike Ang4, mouse Ang1 and human ANG, which share 77% amino acid identity, lack bactericidal activity against Enterococcus faecalis or Listeria monocytogenes. However, Ang1 and ANG, but not Ang4, have potent activity against Candida albicans and Streptococcus pneumoniae at concentrations comparable to those found in serum. Hooper et al. (2003) concluded that ANG is an important systemic antimicrobial protein. </p><p>Using yeast 2-hybrid and in vitro protein-binding assays, Gao et al. (2007) showed that follistatin (FST; 136470) bound ANG. When expressed individually, fluorescence-tagged FST and ANG showed diffuse nuclear localization in transfected HeLa cells. However, when FST and ANG were expressed together, they colocalized in a punctate distribution within nuclei. Mutation analysis showed that domains 2 and 3 of FST were required for ANG binding. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Weremowicz et al. (1989, 1990) assigned the human angiogenin gene to chromosome 14q11 by study of somatic cell hybrids and in situ hybridization. By study of cells containing a translocation t(11;14), they showed that the angiogenin gene is proximal to the translocation breakpoint, which is within the T-cell receptor alpha (see 186880)/delta (see 186810) locus. Steinhelper and Field (1992) mapped the Ang gene to mouse chromosome 14 by use of a PCR-RFLP mapping technique in connection with recombinant inbred strains. </p>
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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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<p>Hayward et al. (1999) and Greenway et al. (2004) identified 14q11.2 as a candidate region for amyotrophic lateral sclerosis (ALS9; 611895) in Irish and Scottish populations and reported an association of a synonymous SNP in the ANG gene (rs11701) in the Irish population with ALS. Greenway et al. (2006) genotyped the rs11701 in 1,629 individuals with ALS and 1,264 controls from 5 independent populations and confirmed the association in Irish and Scottish populations with ALS, although no association was observed in populations from the U.S., England, or Sweden. Sequencing of the coding sequence of ANG and 40 bp of flanking region in the same 1,629 individuals with ALS and in 1,264 controls identified 7 heterozygous missense mutations (105850.0001-105850.0007) in 15 individuals, of whom 4 had familial and 11 'sporadic' ALS. Although mutations were present in individuals from all 5 populations, 12 of 15 affected individuals were of Scottish or Irish descent. All patients enrolled in the study had typical ALS, although a higher than expected proportion (60%) of individuals with ANG mutations had bulbar-onset disease. Common haplotypes were observed across the ANG locus and flanking region in Irish and Scottish individuals with K17I (105850.0002) and K40I (105850.0006) mutations, indicative of a founder effect. Greenway et al. (2006) also found a unique shared haplotype for the K17E mutation (105850.0003) in individuals of Swedish and northern Irish ethnicity. </p><p>Lambrechts et al. (2003) found ALS at-risk haplotypes in the VEGF promoter and leader sequence that result in reduced VEGF transcription in Swedish and English populations with ALS. Although VEGF is a putative modifier of ALS, mutations in that gene had not been found in individuals with ALS. By contrast, the study of Greenway et al. (2006) identified ANG mutations as a clear susceptibility factor for the development of ALS, particularly in individuals of Irish or Scottish descent. The findings provided further evidence that variations in hypoxia-inducible genes have an important role in ALS. </p><p>In 4 unrelated North American patients with ALS, Wu et al. (2007) identified 4 different heterozygous mutations in the ANG gene (see, e.g., 105850.0008-105850.0009), including the previously reported K17I mutation. Functional expression studies showed loss of angiogenic function of all mutant proteins. </p><p>Using yeast tRNA as substrate in a ribonucleolytic activity assay, Crabtree et al. (2007) demonstrated that 6 mutant ANG proteins (105850.0001-105850.0003; 105850.0005-105850.0007) showed substantially decreased activity, ranging from less than 1% (K40I) to 19% (K17E) of controls. The R31K (105850.0004) mutation did not show such a decrease in activity. Some of the mutant enzymes showed decreased thermal stability, and 3 variants tested showed a decrease in cell proliferative and angiogenic activities. </p><p>Gellera et al. (2008) identified 7 different ANG mutations (see, e.g., 105850.0010) in 9 (1.2%) of 737 Italian patients with ALS. The mutational frequency was higher among patients with familial disease (2.3%) compared to those with sporadic disease (1.0%). Gellera et al. (2008) found no association between ALS and rs11701 in their cohort, which included 515 controls. </p><p>Paubel et al. (2008) identified 2 different mutations (see, e.g., 105850.0007) in 3 of 855 French patients with sporadic ALS. They did not observe an association between rs11701 and the disorder in their cohort. </p><p>Subramanian et al. (2008) found that wildtype and mutant ANG, including Q12L (105850.0001), C39W (105850.0005), and K40I (105850.0006) showed substantial loss of ribonucleolytic activity compared to wildtype ANG. All 3 variants were taken up and internalized in the nuclei of pluripotent P19 embryonal carcinoma murine cells, a model of neuroectodermal differentiation. P19 cells differentiated to form neurons, but the ability of the neurites to extend and make contacts with neighboring neurites was compromised when treated with mutant ANG. The mutant ANG variants also had a cytotoxic effect on motor neurons, leading to their degeneration. Wildtype ANG was able to protect neurons from hypoxia-induced cell death, but the mutant variants lacked this neuroprotective activity. The findings showed that ANG plays an important role in neurite extension/pathfinding and survival, providing a causal link between mutations in ANG and ALS. </p>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>10 Selected Examples):</strong>
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</span>
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</h4>
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<h4>
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<span class="mim-font">
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<strong>.0001 AMYOTROPHIC LATERAL SCLEROSIS 9</strong>
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ANG, GLN12LEU
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<br />
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SNP: rs121909535,
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ClinVar: RCV000019699
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<span class="mim-text-font">
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<p>In a Scottish patient and an Irish/Scottish patient with amyotrophic lateral sclerosis (ALS9; 611895), Greenway et al. (2006) identified a heterozygous 107A-T transversion in the ANG gene, resulting in a gln12-to-leu (Q12L) substitution. There were no other affected members of the family. </p>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 AMYOTROPHIC LATERAL SCLEROSIS 9</strong>
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|
</span>
|
|
</h4>
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</div>
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<div>
|
|
<span class="mim-text-font">
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ANG, LYS17ILE
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<br />
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SNP: rs121909536,
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gnomAD: rs121909536,
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ClinVar: RCV000019700, RCV000517735, RCV001642231, RCV003934843
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In an Irish and an Irish/Scottish patient with amyotrophic lateral sclerosis (ALS9; 611895), Greenway et al. (2006) identified a heterozygous 122A-T transversion in the ANG gene, resulting in a lys17-to-ile (K17I) substitution. Both patients had onset at 53 years with involvement of the limbs. A common haplotype was observed across the ANG locus and flanking region in these individuals, indicative of a founder effect. The K17I mutation was also found in an apparently healthy 65-year-old male of European descent. </p><p>Wu et al. (2007) identified heterozygosity for the K17I mutation in a North American patient with ALS. In vitro functional expression studies showed that the mutant protein had less than 5% residual ribonucleolytic activity and complete loss of angiogenic function. </p><p>Van Es et al. (2009) reported a 4-generation family in which ALS segregated with the K17I mutation. Affected individuals had classic signs of the disorder, but 1 patient presented with parkinsonism and later developed signs of frontotemporal dementia. One obligate carrier did not develop the disease by age 75, indicating incomplete penetrance. </p><p>Millecamps et al. (2010) identified the K17I mutation in 2 (0.6%) of 162 French probands with familial ALS. Both showed dominant inheritance. However, 1 of the K17I carriers was also found to carry a heterozygous mutation in the FUS gene (R521C; 137070.0004), which causes ALS6 (608030). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0003 AMYOTROPHIC LATERAL SCLEROSIS 9</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ANG, LYS17GLU
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<br />
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SNP: rs121909537,
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ClinVar: RCV000019701
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an individual of Swedish ethnicity and 1 of northern Irish ethnicity with amyotrophic lateral sclerosis (ALS9; 611895), Greenway et al. (2006) identified a heterozygous 121A-G transition in the ANG gene, resulting in a lys17-to-glu (K17E) substitution. The individuals shared a unique haplotype for the K17E mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 AMYOTROPHIC LATERAL SCLEROSIS 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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|
<span class="mim-text-font">
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ANG, ARG31LYS
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<br />
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|
SNP: rs121909538,
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ClinVar: RCV000019702
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an individual of Irish/English descent with a sporadic case of amyotrophic lateral sclerosis (ALS9; 611895), Greenway et al. (2006) identified a heterozygous 164G-A transition in the ANG gene, resulting in an arg31-to-lys (R31K) substitution. </p>
|
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</span>
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|
</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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 AMYOTROPHIC LATERAL SCLEROSIS 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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ANG, CYS39TRP
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<br />
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|
SNP: rs121909539,
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ClinVar: RCV000019703
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Greenway et al. (2006) identified heterozygosity for a 189C-G transversion in the ANG gene, resulting in a cys39-to-trp (C39W) substitution, in 2 familial cases of amyotrophic lateral sclerosis (ALS9; 611895) with European ethnicity. In each case 3 members of the family were affected. </p>
|
|
</span>
|
|
</div>
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 AMYOTROPHIC LATERAL SCLEROSIS 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ANG, LYS40ILE
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|
|
|
<br />
|
|
|
|
SNP: rs121909540,
|
|
|
|
|
|
|
|
ClinVar: RCV000019704
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 individuals with amyotrophic lateral sclerosis (ALS9; 611895), 2 Irish and 1 Scottish, Greenway et al. (2006) identified a heterozygous 191A-T transversion in the ANG gene, resulting in a lys40-to-ile (K40I) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 AMYOTROPHIC LATERAL SCLEROSIS 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ANG, ILE46VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909541,
|
|
|
|
|
|
gnomAD: rs121909541,
|
|
|
|
|
|
ClinVar: RCV000019705, RCV000335176, RCV001659725, RCV003974847
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 Scottish individuals with amyotrophic lateral sclerosis (ALS9; 611895), Greenway et al. (2006) identified a heterozygous 208A-G transition in the ANG gene, resulting in an ile46-to-val (I46V) substitution. Two of the cases were familial. </p><p>Gellera et al. (2008) identified the I46V mutation in 6 Italian ALS patients and 4 controls (0.8% in both groups), suggesting that it is a rare polymorphism in the Italian population. </p><p>Paubel et al. (2008) identified the I46V mutation in 2 of 855 French patients with sporadic ALS. The mutation was found in 0.2% of healthy controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 AMYOTROPHIC LATERAL SCLEROSIS 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ANG, SER28ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909542,
|
|
|
|
|
|
gnomAD: rs121909542,
|
|
|
|
|
|
ClinVar: RCV000019706
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a North American patient with amyotrophic lateral sclerosis (ALS9; 611895), Wu et al. (2007) identified a heterozygous G-to-A transition in the ANG gene, resulting in a ser28-to-asn (S28N) substitution adjacent to the nuclear localization sequence of the protein. In vitro functional expression studies showed that the mutant protein had 9% residual ribonucleolytic activity with complete loss of angiogenic function. The mutant protein was unable to translocate to the nucleus. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 AMYOTROPHIC LATERAL SCLEROSIS 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ANG, PRO112LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909543,
|
|
|
|
|
|
gnomAD: rs121909543,
|
|
|
|
|
|
ClinVar: RCV000019707, RCV003398548, RCV003565384
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a North American patient with amyotrophic lateral sclerosis (ALS9; 611895), Wu et al. (2007) identified a heterozygous C-to-T transition in the ANG gene, resulting in a pro112-to-leu (P112L) substitution. In vitro functional expression studies showed that the mutant protein had 14% residual ribonucleolytic activity with complete loss of angiogenic function. The mutant protein was unable to translocate to the nucleus. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 AMYOTROPHIC LATERAL SCLEROSIS 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ANG, VAL113ILE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909544,
|
|
|
|
|
|
|
|
ClinVar: RCV000019708
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Italian sibs and their mother with amyotrophic lateral sclerosis (ALS9; 611895), Gellera et al. (2008) identified a heterozygous 409G-A transition in the ANG gene, resulting in a val113-to-ile (V113I) substitution. The mutation was also identified in an unrelated patient with sporadic ALS who had a predominantly upper motor neuron phenotype. The mutation was not identified in 515 control individuals. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
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|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brown, W. E., Nobile, V., Subramanian, V., Shapiro, R.
|
|
<strong>The mouse angiogenin gene family: structures of an angiogenin-related protein gene and two pseudogenes.</strong>
|
|
Genomics 29: 200-206, 1995.
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[PubMed: 8530072]
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[Full Text: https://doi.org/10.1006/geno.1995.1232]
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<li>
|
|
<p class="mim-text-font">
|
|
Crabtree, B., Thiyagarajan, N., Prior, S. H., Wilson, P., Iyer, S., Ferns, T., Shapiro, R., Brew, K., Subramanian, V., Acharya, K. R.
|
|
<strong>Characterization of human angiogenin variants implicated in amyotrophic lateral sclerosis.</strong>
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Biochemistry 46: 11810-11818, 2007.
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[PubMed: 17900154]
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[Full Text: https://doi.org/10.1021/bi701333h]
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<p class="mim-text-font">
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Gao, X., Hu, H., Zhu, J., Xu, Z.
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<strong>Identification and characterization of follistatin as a novel angiogenin-binding protein.</strong>
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FEBS Lett. 581: 5505-5510, 2007.
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[PubMed: 17991437]
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[Full Text: https://doi.org/10.1016/j.febslet.2007.10.059]
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</p>
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<li>
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<p class="mim-text-font">
|
|
Gellera, C., Colombrita, C., Ticozzi, N., Castellotti, B., Bragato, C., Ratti, A., Taroni, F., Silani, V.
|
|
<strong>Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis.</strong>
|
|
Neurogenetics 9: 33-40, 2008.
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[PubMed: 18087731]
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[Full Text: https://doi.org/10.1007/s10048-007-0111-3]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Greenway, M. J., Alexander, M. D., Ennis, S., Traynor, B. J., Corr, B., Frost, E., Green, A., Hardiman, O.
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<strong>A novel candidate region for ALS on chromosome 14q11.2.</strong>
|
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Neurology 63: 1936-1938, 2004.
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[PubMed: 15557516]
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[Full Text: https://doi.org/10.1212/01.wnl.0000144344.39103.f6]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Greenway, M. J., Andersen, P. M., Russ, C., Ennis, S., Cashman, S., Donaghy, C., Patterson, V., Swingler, R., Kieran, D., Prehn, J., Morrison, K. E., Green, A., Acharya, K. R., Brown, R. H., Jr., Hardiman, O.
|
|
<strong>ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.</strong>
|
|
Nature Genet. 38: 411-413, 2006.
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[PubMed: 16501576]
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[Full Text: https://doi.org/10.1038/ng1742]
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<li>
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<p class="mim-text-font">
|
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Hayward, C., Colville, S., Swingler, R. J., Brock, D. J. H.
|
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<strong>Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis.</strong>
|
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Neurology 52: 1899-1901, 1999.
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[PubMed: 10371543]
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[Full Text: https://doi.org/10.1212/wnl.52.9.1899]
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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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Hooper, L. V., Stappenbeck, T. S., Hong, C. V., Gordon, J. I.
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<strong>Angiogenins: a new class of microbicidal proteins involved in innate immunity.</strong>
|
|
Nature Immun. 4: 269-273, 2003.
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[PubMed: 12548285]
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|
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[Full Text: https://doi.org/10.1038/ni888]
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|
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Kurachi, K., Davie, E. W., Strydom, D. J., Riordan, J. F., Vallee, B. L.
|
|
<strong>Sequence of the cDNA and gene for angiogenin, a human angiogenesis factor.</strong>
|
|
Biochemistry 24: 5494-5499, 1985.
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|
|
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[PubMed: 2866795]
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|
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|
|
|
[Full Text: https://doi.org/10.1021/bi00341a032]
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|
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Lambrechts, D., Storkebaum, E., Morimoto, M., Del-Favero, J., Desmet, F., Marklund, S. L., Wyns, S., Thijs, V., Andersson, J., van Marion, I., Al-Chalabi, A., Bornes, S., and 22 others.
|
|
<strong>VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death.</strong>
|
|
Nature Genet. 34: 383-394, 2003.
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|
|
|
|
|
[PubMed: 12847526]
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|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1211]
|
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
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Subramanian, V., Crabtree, B., Acharya, K. R.
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<strong>A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.</strong>
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