2955 lines
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Entry
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- *120580 - COMPLEMENT COMPONENT 1, s SUBCOMPONENT; C1S
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- OMIM
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<p>
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<span class="h4">*120580</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/120580">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<div style="display: table-cell;">External Links</div>
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</h4>
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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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</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=ENSG00000182326;t=ENST00000360817" 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=716" 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=120580" 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="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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<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=ENSG00000182326;t=ENST00000360817" 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_001346850,NM_001734,NM_201442" 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_001734" 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=120580" 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=00397&isoform_id=00397_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/C1S" 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/115205,179646,179648,4502495,6407558,34785163,41393602,119609095,119609096,158261613,283915517,284806889,1098385908,2462534166" 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/P09871" 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=716" 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=ENSG00000182326;t=ENST00000360817" 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=C1S" 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=C1S" 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+716" 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/C1S" 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:716" 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/716" 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=chr12&hgg_gene=ENST00000360817.10&hgg_start=7060718&hgg_end=7071032&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=120580[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=120580[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/ENSG00000182326" 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=C1S" 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=C1S" 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=C1S" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://structure.bmc.lu.se/idbase/C1Sbase/index.php" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=C1S&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/PA25636" 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:1247" 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:1355312 MGI:3644269" 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/C1S#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:1355312 MGI:3644269" 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/716/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=716" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-1232" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:716" 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=C1S&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
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120580
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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COMPLEMENT COMPONENT 1, s SUBCOMPONENT; C1S
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</span>
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</h3>
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
COMPLEMENT COMPONENT C1s
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=C1S" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">C1S</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/12/89?start=-3&limit=10&highlight=89">12p13.31</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:7060718-7071032&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'})">12:7,060,718-7,071,032</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<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">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=613783,617174" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
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|
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</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/89?start=-3&limit=10&highlight=89">
|
|
12p13.31
|
|
</a>
|
|
</span>
|
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</td>
|
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|
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|
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<td>
|
|
<span class="mim-font">
|
|
C1s deficiency
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/613783"> 613783 </a>
|
|
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
</span>
|
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</td>
|
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<td>
|
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<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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</span>
|
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</td>
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|
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Ehlers-Danlos syndrome, periodontal type, 2
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/617174"> 617174 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
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</tr>
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</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/120580" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/120580" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
|
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|
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<h4>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
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|
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<div>
|
|
<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<p><a href="#7" class="mim-tip-reference" title="MacKinnon, C. M., Carter, P. E., Smyth, S. J., Dunbar, B., Fothergill, J. E. <strong>Molecular cloning of cDNA for human complement component C1s: the complete amino acid sequence.</strong> Europ. J. Biochem. 169: 547-553, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3500856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3500856</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1987.tb13644.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3500856">MacKinnon et al. (1987)</a> derived the complete amino acid sequence of C1s from molecular cloning of cDNA. <a href="#9" class="mim-tip-reference" title="Tosi, M., Duponchel, C., Meo, T., Julier, C. <strong>Complete cDNA sequence of human complement C1s and close physical linkage of the homologous genes C1s and C1r.</strong> Biochemistry 26: 8516-8524, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2831944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2831944</a>] [<a href="https://doi.org/10.1021/bi00400a004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2831944">Tosi et al. (1987)</a> presented the complete cDNA sequence of C1s. <a href="#5" class="mim-tip-reference" title="Kusumoto, H., Hirosawa, S., Salier, J. P., Hagen, F. S., Kurachi, K. <strong>Human genes for complement components C1r and C1s in a close tail-to-tail arrangement.</strong> Proc. Nat. Acad. Sci. 85: 7307-7311, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2459702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2459702</a>] [<a href="https://doi.org/10.1073/pnas.85.19.7307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2459702">Kusumoto et al. (1988)</a> found that the amino acid sequence of C1s was 40.5% identical to that of C1r (<a href="/entry/216950">216950</a>), with excellent matches of tentative disulfide bond locations conserving the overall domain structure of C1r. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2831944+2459702+3500856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By means of a cDNA in somatic cell hybrids, <a href="#1" class="mim-tip-reference" title="Cohen-Haguenauer, O., Serero, S., Tosi, M., Van Cong, N., Stubnicer, A.-C., de Tand, M.-F., Meo, T., Frezal, J. <strong>Chromosomal assignment of human C1R, C1S genes on chromosome 12 and C1 inhibitor gene on chromosome 11. (Abstract)</strong> 7th International Congress of Human Genetics, Berlin 1986. P. 617."None>Cohen-Haguenauer et al. (1986)</a> assigned the C1S and C1R (<a href="/entry/216950">216950</a>) genes to chromosome 12.</p><p><a href="#6" class="mim-tip-reference" title="Leppert, M., Ferrell, R., Kamboh, M. I., Beasley, J., O'Connell, P., Lathrop, M., Lalouel, J. M., White, R. <strong>Linkage of the polymorphic protein markers F13B, C1S, C1R, and blood group antigen Kidd in CEPH reference families. (Abstract)</strong> Cytogenet. Cell Genet. 46: 647 only, 1987."None>Leppert et al. (1987)</a> found a maximum lod score of 5.99 at theta = 0.038 for linkage between C1S and one of the PRP loci (see <a href="/entry/168710">168710</a>); the maximum lod score between C1R and another PRP locus was 4.21 at theta = 0.001. Although C1r and C1s are structurally and functionally similar, with a significant degree of sequence homology suggesting origin by gene duplication, cDNA probes for human C1r and C1s do not cross-hybridize even at mild stringency conditions and are therefore gene-specific.</p><p>Using a panel of human-rodent cell hybrids, <a href="#8" class="mim-tip-reference" title="Nguyen, V. C., Tosi, M., Gross, M. S., Cohen-Haguenauer, O., Jegou-Foubert, C., de Tand, M. F., Meo, T., Frezal, J. <strong>Assignment of the complement serine protease genes C1r and C1s to chromosome 12 region 12p13.</strong> Hum. Genet. 78: 363-368, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2834284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2834284</a>] [<a href="https://doi.org/10.1007/BF00291737" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2834284">Nguyen et al. (1988)</a> independently assigned the C1r and C1s genes to chromosome 12. In situ hybridization confirmed these assignments and localized the genes to 12p13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2834284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By hybridization of C1r and C1s probes to restriction endonuclease fragments of genomic DNA, <a href="#9" class="mim-tip-reference" title="Tosi, M., Duponchel, C., Meo, T., Julier, C. <strong>Complete cDNA sequence of human complement C1s and close physical linkage of the homologous genes C1s and C1r.</strong> Biochemistry 26: 8516-8524, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2831944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2831944</a>] [<a href="https://doi.org/10.1021/bi00400a004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2831944">Tosi et al. (1987)</a> demonstrated close physical linkage of the genes. This finding was consistent with their evolution through tandem gene duplication and was also consistent with the previously observed combined hereditary deficiencies of C1r and C1s (see <a href="/entry/216950">216950</a>). Their coordinate expression may depend on the close linkage. The 2 genes lie in a DNA stretch not longer than 50 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2831944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By DNA blotting and sequencing analyses of genomic DNA and of an isolated genomic DNA clone, <a href="#5" class="mim-tip-reference" title="Kusumoto, H., Hirosawa, S., Salier, J. P., Hagen, F. S., Kurachi, K. <strong>Human genes for complement components C1r and C1s in a close tail-to-tail arrangement.</strong> Proc. Nat. Acad. Sci. 85: 7307-7311, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2459702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2459702</a>] [<a href="https://doi.org/10.1073/pnas.85.19.7307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2459702">Kusumoto et al. (1988)</a> showed that the C1r and C1s genes are closely located in a 'tail-to-tail' arrangement at a distance of about 9.5 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2459702" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#3" class="mim-tip-reference" title="Inoue, N., Saito, T., Masuda, R., Suzuki, Y., Ohtomi, M., Sakiyama, H. <strong>Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.</strong> Hum. Genet. 103: 415-418, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856483</a>] [<a href="https://doi.org/10.1007/s004390050843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9856483">Inoue et al. (1998)</a> reported a patient with systemic lupus erythematosus-like syndrome and chronic glomerulonephritis who had selective C1s deficiency (<a href="/entry/613783">613783</a>) resulting from a homozygous mutation in the C1S gene (<a href="#0001">120580.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 27-month-old girl with multiple autoimmune diseases, <a href="#2" class="mim-tip-reference" title="Dragon-Durey, M.-A., Quartier, P., Fremeaux-Bacchi, V., Blouin, J., de Barace, C., Prieur, A.-M., Weiss, L., Fridman, W.-H. <strong>Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases.</strong> J. Immun. 166: 7612-7616, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11390518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11390518</a>] [<a href="https://doi.org/10.4049/jimmunol.166.12.7612" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11390518">Dragon-Durey et al. (2001)</a> detected selective C1S deficiency (<a href="/entry/613783">613783</a>) resulting from a homozygous nonsense mutation in exon 12 of the C1S gene (<a href="#0002">120580.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11390518" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Ehlers-Danlos Syndrome, Periodontal Type, 2</em></strong></p><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">rs2135727106 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2135727106;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=rs2135727106" 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=rs2135727106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with systemic lupus erythematosus-like syndrome and chronic glomerulonephritis, <a href="#3" class="mim-tip-reference" title="Inoue, N., Saito, T., Masuda, R., Suzuki, Y., Ohtomi, M., Sakiyama, H. <strong>Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.</strong> Hum. Genet. 103: 415-418, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856483</a>] [<a href="https://doi.org/10.1007/s004390050843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9856483">Inoue et al. (1998)</a> reported the molecular basis of selective C1s deficiency (<a href="/entry/613783">613783</a>). No C1s protein was detectable by immunoblot. By Northern blot and RT-PCR analysis, C1s mRNA was of appropriate size, but only 10% of the level detected in HCS2/8, a human chondrosarcoma cell line. Levels of beta-actin and C1r mRNA were similar to levels detected in HCS2/8. The patient was homozygous for a 4-bp deletion in exon 10 of the C1S gene, 1087-1090delTTTG. This deletion resulted in a premature termination codon 94 bp downstream. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856483" 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> rs121909582 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909582;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/rs121909582?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=rs121909582" 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=rs121909582" 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=RCV003062480 OR RCV003329456 OR RCV004784089" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003062480, RCV003329456, RCV004784089" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003062480...</a>
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<p>In a 27-month-old girl with multiple autoimmune diseases, <a href="#2" class="mim-tip-reference" title="Dragon-Durey, M.-A., Quartier, P., Fremeaux-Bacchi, V., Blouin, J., de Barace, C., Prieur, A.-M., Weiss, L., Fridman, W.-H. <strong>Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases.</strong> J. Immun. 166: 7612-7616, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11390518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11390518</a>] [<a href="https://doi.org/10.4049/jimmunol.166.12.7612" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11390518">Dragon-Durey et al. (2001)</a> determined that an absence of plasma C1s (<a href="/entry/613783">613783</a>) accounted for a lack of classic complement (CH50) pathway activity. Microsatellite and sequence analyses revealed a C-to-T transition in codon 534 in exon 12 of the C1S gene, resulting in an arg-to-ter substitution and premature termination. DNA analysis indicated that both parents were heterozygous for the mutation. Restriction enzyme analysis showed that the propositus was homozygous for the mutation, while a paternal grandmother, maternal grandfather, and aunts on both sides of the family were heterozygous. The mutation was not detected in systemic lupus erythematosus (<a href="/entry/152700">152700</a>) patients or unrelated Caucasian controls, including some from the same geographic region. At age 5, the child was alive and well while receiving immunosuppressive drugs daily and penicillin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11390518" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2</strong>
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C1S, CYS279ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs886040975 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886040975;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=rs886040975" 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=rs886040975" 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=RCV000258062 OR RCV000417062" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000258062, RCV000417062" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000258062...</a>
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<p>In 5 affected members of a 3-generation family (family 16) with the periodontal type of Ehlers-Danlos syndrome (EDSPD2; <a href="/entry/617174">617174</a>), <a href="#4" class="mim-tip-reference" title="Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others. <strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong> Am. J. Hum. Genet. 99: 1005-1014, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27745832">Kapferer-Seebacher et al. (2016)</a> identified heterozygosity for a c.880T-C transition (c.880T-C, NM_201442.2) in the C1S gene, resulting in a cys294-to-arg substitution (cys279-to-arg (C279R) in the mature protein) within the Sushi CCP1. The mutation segregated with disease in the family and was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27745832" 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 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2</strong>
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C1S, 3-BP DEL, NT945
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs886040974 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886040974;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=rs886040974" 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=rs886040974" 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=RCV000258063 OR RCV000417046" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000258063, RCV000417046" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000258063...</a>
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<p>In 4 affected members of a large 5-generation family (family 17) with the periodontal type of Ehlers-Danlos syndrome (EDSPD2; <a href="/entry/617174">617174</a>), <a href="#4" class="mim-tip-reference" title="Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others. <strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong> Am. J. Hum. Genet. 99: 1005-1014, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27745832">Kapferer-Seebacher et al. (2016)</a> identified heterozygosity for an in-frame 3-bp deletion (c.945_947del, NM_201442.2) in the C1S gene, resulting in deletion of an amino acid residue (Val316del, or Val301 in the mature protein). The mutation was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27745832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Cohen-Haguenauer1986" class="mim-anchor"></a>
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Cohen-Haguenauer, O., Serero, S., Tosi, M., Van Cong, N., Stubnicer, A.-C., de Tand, M.-F., Meo, T., Frezal, J.
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<strong>Chromosomal assignment of human C1R, C1S genes on chromosome 12 and C1 inhibitor gene on chromosome 11. (Abstract)</strong>
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7th International Congress of Human Genetics, Berlin 1986. P. 617.
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Dragon-Durey, M.-A., Quartier, P., Fremeaux-Bacchi, V., Blouin, J., de Barace, C., Prieur, A.-M., Weiss, L., Fridman, W.-H.
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<strong>Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases.</strong>
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J. Immun. 166: 7612-7616, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11390518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11390518</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11390518" 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/10.4049/jimmunol.166.12.7612" target="_blank">Full Text</a>]
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Inoue, N., Saito, T., Masuda, R., Suzuki, Y., Ohtomi, M., Sakiyama, H.
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<strong>Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.</strong>
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Hum. Genet. 103: 415-418, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856483</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004390050843" target="_blank">Full Text</a>]
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<a id="Kapferer-Seebacher2016" class="mim-anchor"></a>
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Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others.
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<strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong>
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Am. J. Hum. Genet. 99: 1005-1014, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27745832" 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/10.1016/j.ajhg.2016.08.019" target="_blank">Full Text</a>]
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Kusumoto, H., Hirosawa, S., Salier, J. P., Hagen, F. S., Kurachi, K.
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<strong>Human genes for complement components C1r and C1s in a close tail-to-tail arrangement.</strong>
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Proc. Nat. Acad. Sci. 85: 7307-7311, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2459702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2459702</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2459702" 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/10.1073/pnas.85.19.7307" target="_blank">Full Text</a>]
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Leppert, M., Ferrell, R., Kamboh, M. I., Beasley, J., O'Connell, P., Lathrop, M., Lalouel, J. M., White, R.
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<strong>Linkage of the polymorphic protein markers F13B, C1S, C1R, and blood group antigen Kidd in CEPH reference families. (Abstract)</strong>
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Cytogenet. Cell Genet. 46: 647 only, 1987.
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MacKinnon, C. M., Carter, P. E., Smyth, S. J., Dunbar, B., Fothergill, J. E.
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<strong>Molecular cloning of cDNA for human complement component C1s: the complete amino acid sequence.</strong>
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Europ. J. Biochem. 169: 547-553, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3500856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3500856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3500856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1432-1033.1987.tb13644.x" target="_blank">Full Text</a>]
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Nguyen, V. C., Tosi, M., Gross, M. S., Cohen-Haguenauer, O., Jegou-Foubert, C., de Tand, M. F., Meo, T., Frezal, J.
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<strong>Assignment of the complement serine protease genes C1r and C1s to chromosome 12 region 12p13.</strong>
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Hum. Genet. 78: 363-368, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2834284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2834284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2834284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00291737" target="_blank">Full Text</a>]
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Tosi, M., Duponchel, C., Meo, T., Julier, C.
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<strong>Complete cDNA sequence of human complement C1s and close physical linkage of the homologous genes C1s and C1r.</strong>
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Biochemistry 26: 8516-8524, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2831944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2831944</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2831944" 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/bi00400a004" 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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Marla J. F. O'Neill - updated : 10/28/2016
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Paul J. Converse - updated : 10/17/2001<br>Ada Hamosh - updated : 3/9/1999
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</span>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 10/16/1986
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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 href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/21/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 07/20/2017<br>carol : 10/31/2016<br>carol : 10/29/2016<br>carol : 10/29/2016<br>carol : 10/28/2016<br>carol : 10/13/2016<br>carol : 03/03/2011<br>carol : 3/2/2011<br>carol : 3/1/2011<br>joanna : 3/17/2004<br>mgross : 10/17/2001<br>alopez : 3/12/1999<br>alopez : 3/9/1999<br>dkim : 6/30/1998<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>root : 10/17/1988<br>root : 10/12/1988<br>root : 4/29/1988
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</span>
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</div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 120580
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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COMPLEMENT COMPONENT 1, s SUBCOMPONENT; C1S
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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COMPLEMENT COMPONENT C1s
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</span>
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</h4>
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</div>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: C1S</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 12p13.31
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:7,060,718-7,071,032 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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12p13.31
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</span>
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</td>
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<td>
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<span class="mim-font">
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C1s deficiency
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</span>
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</td>
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<td>
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<span class="mim-font">
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613783
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Ehlers-Danlos syndrome, periodontal type, 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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617174
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>MacKinnon et al. (1987) derived the complete amino acid sequence of C1s from molecular cloning of cDNA. Tosi et al. (1987) presented the complete cDNA sequence of C1s. Kusumoto et al. (1988) found that the amino acid sequence of C1s was 40.5% identical to that of C1r (216950), with excellent matches of tentative disulfide bond locations conserving the overall domain structure of C1r. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By means of a cDNA in somatic cell hybrids, Cohen-Haguenauer et al. (1986) assigned the C1S and C1R (216950) genes to chromosome 12.</p><p>Leppert et al. (1987) found a maximum lod score of 5.99 at theta = 0.038 for linkage between C1S and one of the PRP loci (see 168710); the maximum lod score between C1R and another PRP locus was 4.21 at theta = 0.001. Although C1r and C1s are structurally and functionally similar, with a significant degree of sequence homology suggesting origin by gene duplication, cDNA probes for human C1r and C1s do not cross-hybridize even at mild stringency conditions and are therefore gene-specific.</p><p>Using a panel of human-rodent cell hybrids, Nguyen et al. (1988) independently assigned the C1r and C1s genes to chromosome 12. In situ hybridization confirmed these assignments and localized the genes to 12p13. </p><p>By hybridization of C1r and C1s probes to restriction endonuclease fragments of genomic DNA, Tosi et al. (1987) demonstrated close physical linkage of the genes. This finding was consistent with their evolution through tandem gene duplication and was also consistent with the previously observed combined hereditary deficiencies of C1r and C1s (see 216950). Their coordinate expression may depend on the close linkage. The 2 genes lie in a DNA stretch not longer than 50 kb. </p><p>By DNA blotting and sequencing analyses of genomic DNA and of an isolated genomic DNA clone, Kusumoto et al. (1988) showed that the C1r and C1s genes are closely located in a 'tail-to-tail' arrangement at a distance of about 9.5 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Complement Component C1s Deficiency</em></strong></p><p>
|
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Inoue et al. (1998) reported a patient with systemic lupus erythematosus-like syndrome and chronic glomerulonephritis who had selective C1s deficiency (613783) resulting from a homozygous mutation in the C1S gene (120580.0001). </p><p>In a 27-month-old girl with multiple autoimmune diseases, Dragon-Durey et al. (2001) detected selective C1S deficiency (613783) resulting from a homozygous nonsense mutation in exon 12 of the C1S gene (120580.0002). </p><p><strong><em>Ehlers-Danlos Syndrome, Periodontal Type, 2</em></strong></p><p>
|
|
In 2 unrelated families with the periodontal type of Ehlers-Danlos syndrome (EDSPD2; 617174), Kapferer-Seebacher et al. (2016) identified heterozygosity for a missense mutation and an in-frame deletion in the C1S gene (120580.0003 and 120580.0004). The mutations segregated with disease in the families and neither was found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. The authors stated that the mutations appeared to have gain-of-function effects. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
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<strong>4 Selected Examples):</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
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<p />
|
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 C1s DEFICIENCY</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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C1S, 4-BP DEL, NT1087
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|
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<br />
|
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|
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SNP: rs2135727106,
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|
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ClinVar: RCV000018596
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with systemic lupus erythematosus-like syndrome and chronic glomerulonephritis, Inoue et al. (1998) reported the molecular basis of selective C1s deficiency (613783). No C1s protein was detectable by immunoblot. By Northern blot and RT-PCR analysis, C1s mRNA was of appropriate size, but only 10% of the level detected in HCS2/8, a human chondrosarcoma cell line. Levels of beta-actin and C1r mRNA were similar to levels detected in HCS2/8. The patient was homozygous for a 4-bp deletion in exon 10 of the C1S gene, 1087-1090delTTTG. This deletion resulted in a premature termination codon 94 bp downstream. </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>.0002 C1s DEFICIENCY</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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C1S, ARG534TER
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|
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<br />
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|
|
SNP: rs121909582,
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|
|
|
|
gnomAD: rs121909582,
|
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|
|
ClinVar: RCV003062480, RCV003329456, RCV004784089
|
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|
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a 27-month-old girl with multiple autoimmune diseases, Dragon-Durey et al. (2001) determined that an absence of plasma C1s (613783) accounted for a lack of classic complement (CH50) pathway activity. Microsatellite and sequence analyses revealed a C-to-T transition in codon 534 in exon 12 of the C1S gene, resulting in an arg-to-ter substitution and premature termination. DNA analysis indicated that both parents were heterozygous for the mutation. Restriction enzyme analysis showed that the propositus was homozygous for the mutation, while a paternal grandmother, maternal grandfather, and aunts on both sides of the family were heterozygous. The mutation was not detected in systemic lupus erythematosus (152700) patients or unrelated Caucasian controls, including some from the same geographic region. At age 5, the child was alive and well while receiving immunosuppressive drugs daily and penicillin. </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 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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C1S, CYS279ARG
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<br />
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SNP: rs886040975,
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ClinVar: RCV000258062, RCV000417062
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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 5 affected members of a 3-generation family (family 16) with the periodontal type of Ehlers-Danlos syndrome (EDSPD2; 617174), Kapferer-Seebacher et al. (2016) identified heterozygosity for a c.880T-C transition (c.880T-C, NM_201442.2) in the C1S gene, resulting in a cys294-to-arg substitution (cys279-to-arg (C279R) in the mature protein) within the Sushi CCP1. The mutation segregated with disease in the family and was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0004 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2</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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C1S, 3-BP DEL, NT945
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<br />
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SNP: rs886040974,
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ClinVar: RCV000258063, RCV000417046
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 4 affected members of a large 5-generation family (family 17) with the periodontal type of Ehlers-Danlos syndrome (EDSPD2; 617174), Kapferer-Seebacher et al. (2016) identified heterozygosity for an in-frame 3-bp deletion (c.945_947del, NM_201442.2) in the C1S gene, resulting in deletion of an amino acid residue (Val316del, or Val301 in the mature protein). The mutation was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>REFERENCES</strong>
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</span>
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Cohen-Haguenauer, O., Serero, S., Tosi, M., Van Cong, N., Stubnicer, A.-C., de Tand, M.-F., Meo, T., Frezal, J.
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<strong>Chromosomal assignment of human C1R, C1S genes on chromosome 12 and C1 inhibitor gene on chromosome 11. (Abstract)</strong>
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7th International Congress of Human Genetics, Berlin 1986. P. 617.
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Dragon-Durey, M.-A., Quartier, P., Fremeaux-Bacchi, V., Blouin, J., de Barace, C., Prieur, A.-M., Weiss, L., Fridman, W.-H.
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<strong>Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases.</strong>
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[PubMed: 11390518]
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[Full Text: https://doi.org/10.4049/jimmunol.166.12.7612]
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Inoue, N., Saito, T., Masuda, R., Suzuki, Y., Ohtomi, M., Sakiyama, H.
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<strong>Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.</strong>
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Hum. Genet. 103: 415-418, 1998.
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[PubMed: 9856483]
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[Full Text: https://doi.org/10.1007/s004390050843]
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Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others.
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<strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong>
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Am. J. Hum. Genet. 99: 1005-1014, 2016.
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[PubMed: 27745832]
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[Full Text: https://doi.org/10.1016/j.ajhg.2016.08.019]
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Kusumoto, H., Hirosawa, S., Salier, J. P., Hagen, F. S., Kurachi, K.
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<strong>Human genes for complement components C1r and C1s in a close tail-to-tail arrangement.</strong>
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Proc. Nat. Acad. Sci. 85: 7307-7311, 1988.
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[PubMed: 2459702]
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[Full Text: https://doi.org/10.1073/pnas.85.19.7307]
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Leppert, M., Ferrell, R., Kamboh, M. I., Beasley, J., O'Connell, P., Lathrop, M., Lalouel, J. M., White, R.
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<strong>Linkage of the polymorphic protein markers F13B, C1S, C1R, and blood group antigen Kidd in CEPH reference families. (Abstract)</strong>
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Cytogenet. Cell Genet. 46: 647 only, 1987.
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MacKinnon, C. M., Carter, P. E., Smyth, S. J., Dunbar, B., Fothergill, J. E.
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<strong>Molecular cloning of cDNA for human complement component C1s: the complete amino acid sequence.</strong>
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Europ. J. Biochem. 169: 547-553, 1987.
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[PubMed: 3500856]
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[Full Text: https://doi.org/10.1111/j.1432-1033.1987.tb13644.x]
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Nguyen, V. C., Tosi, M., Gross, M. S., Cohen-Haguenauer, O., Jegou-Foubert, C., de Tand, M. F., Meo, T., Frezal, J.
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<strong>Assignment of the complement serine protease genes C1r and C1s to chromosome 12 region 12p13.</strong>
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Hum. Genet. 78: 363-368, 1988.
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[PubMed: 2834284]
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[Full Text: https://doi.org/10.1007/BF00291737]
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Tosi, M., Duponchel, C., Meo, T., Julier, C.
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<strong>Complete cDNA sequence of human complement C1s and close physical linkage of the homologous genes C1s and C1r.</strong>
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Biochemistry 26: 8516-8524, 1987.
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[PubMed: 2831944]
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[Full Text: https://doi.org/10.1021/bi00400a004]
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Marla J. F. O'Neill - updated : 10/28/2016<br>Paul J. Converse - updated : 10/17/2001<br>Ada Hamosh - updated : 3/9/1999
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Victor A. McKusick : 10/16/1986
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