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Entry
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- *603474 - RIBOSOMAL PROTEIN S19; RPS19
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603474</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603474">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000105372;t=ENST00000598742" 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=6223" 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=603474" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000105372;t=ENST00000598742" 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_001022,NM_001321483,NM_001321484,NM_001321485" 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_001022" 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=603474" 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=04591&isoform_id=04591_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/RPS19" 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/337733,730640,3164200,4210954,4433229,4506695,12652563,14043250,16924231,17391351,114206703,119577475,119577476,119577477,119577478,167882772,189053107,1009287629,1009287631,1009287633,2220275172" 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/P39019" 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=6223" 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=ENSG00000105372;t=ENST00000598742" 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=RPS19" 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=RPS19" 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+6223" 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/RPS19" 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:6223" 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/6223" 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=chr19&hgg_gene=ENST00000598742.6&hgg_start=41860255&hgg_end=41872925&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10402" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:10402" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/rps19" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603474[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=603474[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/RPS19/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000105372" 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=RPS19" 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=RPS19" 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=RPS19" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.dbagenes.unito.it/home.php?select_db=RPS19" 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=RPS19&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/PA34803" 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:10402" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0010412.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1333780" 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/RPS19#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1333780" 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/6223/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=6223" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00004488;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1716" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6223" 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=RPS19&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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603474
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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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RIBOSOMAL PROTEIN S19; RPS19
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=RPS19" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RPS19</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/19/741?start=-3&limit=10&highlight=741">19q13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:41860255-41872925&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'})">19:41,860,255-41,872,925</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<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>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/19/741?start=-3&limit=10&highlight=741">
|
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19q13.2
|
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</a>
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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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Diamond-Blackfan anemia 1
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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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<a href="/entry/105650"> 105650 </a>
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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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<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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</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">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/603474" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/603474" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<p>The mammalian ribosome is composed of 4 RNA species (see <a href="/entry/180450">180450</a>) and approximately 80 different proteins, including RPS19. The RPS19 protein is a component of the 40S ribosomal subunit (<a href="#7" class="mim-tip-reference" title="Gregory, L. A., Aguissa-Toure, A.-H., Pinaud, N., Legrand, P., Gleizes, P.-E., Fribourg, S. <strong>Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.</strong> Nucleic Acids Res. 35: 5913-5921, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17726054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17726054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17726054[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/nar/gkm626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17726054">Gregory et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17726054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Kondoh, N., Schweinfest, C. W., Henderson, K. W., Papas, T. S. <strong>Differential expression of S19 ribosomal protein, laminin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation.</strong> Cancer Res. 52: 791-796, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1339304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1339304</a>]" pmid="1339304">Kondoh et al. (1992)</a> cloned a cDNA encoding ribosomal protein S19 from a colon tumor-enriched subtraction cDNA library. Northern blot analysis showed that the 0.6-kb RPS19 mRNA was expressed at higher levels in 6 of 7 primary colon carcinomas than in matched normal colon tissues. The deduced human and rat RPS19 proteins differ by 1 amino acid. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1339304" 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 Northern blot analysis, <a href="#4" class="mim-tip-reference" title="Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.-N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., Tentler, D., Mohandas, N., Carlsson, B., Dahl, N. <strong>The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.</strong> Nature Genet. 21: 169-175, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9988267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9988267</a>] [<a href="https://doi.org/10.1038/5951" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9988267">Draptchinskaia et al. (1999)</a> found that the RPS19 gene is expressed in several human adult tissues including bone marrow, peripheral blood, spleen, and liver, as well as nonhematopoietic tissues. Ribosomal protein S19 consists of 145 amino acids with a predicted molecular mass of 16 kD and an isoelectric point of 10.3. The protein lacks cysteine residues and the hydropathy profile predicts the presence of hydrophobic domains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9988267" 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>Using wildtype and mutant RPS19 cDNA, <a href="#3" class="mim-tip-reference" title="Da Costa, L., Tchernia, G., Gascard, P., Lo, A., Meerpohl, J., Niemeyer, C., Chasis, J.-A., Fixler, J., Mohandas, N. <strong>Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.</strong> Blood 101: 5039-5045, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12586610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12586610</a>] [<a href="https://doi.org/10.1182/blood-2002-12-3878" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12586610">Da Costa et al. (2003)</a> explored the subcellular distribution of normal and mutant proteins in a fibroblast cell line (COS-7 cells). RPS19 was detected primarily in the nucleus, and more specifically in the nucleoli, where RPS19 colocalized with the nucleolar protein nucleolin (NCL; <a href="/entry/164035">164035</a>). Using various N-terminal and C-terminal deletion constructs, they identified 2 nucleolar localization signals in RPS19: the first comprising amino acids met1 to arg16 in the NH2 terminus and the second comprising gly120 to asn142 in the COOH terminus. Importantly, 2 mutations identified in Diamond-Blackfan anemia (DBA; <a href="/entry/105650">105650</a>) patients, val15 to phe (<a href="#0007">603474.0007</a>) and gly127 to glu (<a href="#0008">603474.0008</a>), each of which localized to 1 of the 2 nucleolar localization signals, failed to localize RPS19 to the nucleolus. In addition to their mislocalization, there was a dramatic decrease in the expression of the 2 mutant proteins compared to the wildtype. This decrease in protein expression was specific for the mutant RPS19, since expression of other proteins was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12586610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using small interfering RNA (siRNA), <a href="#5" class="mim-tip-reference" title="Flygare, J., Aspesi, A., Bailey, J. C., Miyake, K., Caffrey, J. M., Karlsson, S., Ellis, S. R. <strong>Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.</strong> Blood 109: 980-986, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16990592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16990592</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16990592[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2006-07-038232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16990592">Flygare et al. (2007)</a> showed that reduced expression of RPS19 in a human erythroleukemia cell line led to a defect in maturation of the 40S ribosomal subunits, affected erythroid differentiation, and increased apoptosis. Cells expressing siRNA targeting RPS19 failed to efficiently cleave 21S pre-rRNAs at the E site within internal transcribed sequence-1, which would normally lead to formation of the mature 3-prime end of the 18S rRNA. CD34 (<a href="/entry/142230">142230</a>)-negative and CD34-positive bone marrow cells from DBA patients with mutations in RPS19 showed an increased ratio of 21S to 18SE pre-rRNA compared with healthy controls, and the defect was more pronounced in CD34-negative patient cells. <a href="#5" class="mim-tip-reference" title="Flygare, J., Aspesi, A., Bailey, J. C., Miyake, K., Caffrey, J. M., Karlsson, S., Ellis, S. R. <strong>Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.</strong> Blood 109: 980-986, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16990592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16990592</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16990592[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2006-07-038232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16990592">Flygare et al. (2007)</a> concluded that RPS19 is required for efficient E site cleavage and maturation of 40S ribosomal subunits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16990592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.-N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., Tentler, D., Mohandas, N., Carlsson, B., Dahl, N. <strong>The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.</strong> Nature Genet. 21: 169-175, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9988267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9988267</a>] [<a href="https://doi.org/10.1038/5951" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9988267">Draptchinskaia et al. (1999)</a> found that the RPS19 gene is 11 kb long with 6 exons. The first exon is untranslated and the ATG, which corresponds with the start codon (AUG) in the cDNA, is located at the beginning of exon 2. No TATA or CAAT boxes were identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9988267" 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="#7" class="mim-tip-reference" title="Gregory, L. A., Aguissa-Toure, A.-H., Pinaud, N., Legrand, P., Gleizes, P.-E., Fribourg, S. <strong>Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.</strong> Nucleic Acids Res. 35: 5913-5921, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17726054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17726054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17726054[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/nar/gkm626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17726054">Gregory et al. (2007)</a> determined the crystal structure of Rps19 from Pyrococcus abyssi. The protein forms a 5 alpha-helix bundle organized around a central amphipathic alpha-helix. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17726054" 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 somatic cell hybrid and radiation hybrid mapping analyses, <a href="#8" class="mim-tip-reference" title="Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C. <strong>A map of 75 human ribosomal protein genes.</strong> Genome Res. 8: 509-523, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582194</a>] [<a href="https://doi.org/10.1101/gr.8.5.509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9582194">Kenmochi et al. (1998)</a> mapped the RPS19 gene to 19q13.2 (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AB007155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AB007155</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9582194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.-N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., Tentler, D., Mohandas, N., Carlsson, B., Dahl, N. <strong>The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.</strong> Nature Genet. 21: 169-175, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9988267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9988267</a>] [<a href="https://doi.org/10.1038/5951" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9988267">Draptchinskaia et al. (1999)</a> found that the RPS19 gene was interrupted in its third intron in a female patient with a de novo balanced translocation t(X;19)(p21;q13) associated with DBA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9988267" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a screen for mutations of the RPS19 gene in 40 unrelated individuals with Diamond-Blackfan anemia (<a href="/entry/105650">105650</a>), <a href="#4" class="mim-tip-reference" title="Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.-N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., Tentler, D., Mohandas, N., Carlsson, B., Dahl, N. <strong>The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.</strong> Nature Genet. 21: 169-175, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9988267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9988267</a>] [<a href="https://doi.org/10.1038/5951" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9988267">Draptchinskaia et al. (1999)</a> found 9 different mutations in 10 probands. Six of the patients with mutations had a family history of the disorder. No mutations were found in the 5-prime untranslated region or in the sequence encoding the 5 translated exons in 30 other probands. All patients with mutations were heterozygous for the alterations and no additional sequence variations in the protein-coding region of the gene were found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9988267" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Willig, T.-N., Draptchinskaia, N., Dianzani, I., Ball, S., Niemeyer, C., Ramenghi, U., Orfali, K., Gustavsson, P., Garelli, E., Brusco, A., Tiemann, C., Perignon, J. L., Bouchier, C., Cicchiello, L., Dahl, N., Mohandas, N., Tchernia, G. <strong>Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression.</strong> Blood 94: 4294-4306, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10590074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10590074</a>]" pmid="10590074">Willig et al. (1999)</a> analyzed 190 DBA patients and found alterations in RPS19 sequences in about 24% of the cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10590074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Tentler, D., Gustavsson, P., Elinder, G., Eklof, O., Gordon, L., Mandel, A., Dahl, N. <strong>A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome.</strong> J. Med. Genet. 37: 128-131, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10662814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10662814</a>] [<a href="https://doi.org/10.1136/jmg.37.2.128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10662814">Tentler et al. (2000)</a> reported a 12-year-old male with moderate psychomotor retardation, anemia, and skeletal changes. He was found to have a heterozygous microdeletion of 19q13.2 over a 3.2-Mb region that included the RPS19 gene. <a href="#14" class="mim-tip-reference" title="Tentler, D., Gustavsson, P., Elinder, G., Eklof, O., Gordon, L., Mandel, A., Dahl, N. <strong>A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome.</strong> J. Med. Genet. 37: 128-131, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10662814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10662814</a>] [<a href="https://doi.org/10.1136/jmg.37.2.128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10662814">Tentler et al. (2000)</a> suggested that this combination of features was due to a contiguous gene defect at that locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10662814" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Gazda, H. T., Zhong, R., Long, L., Niewiadomska, E., Lipton, J. M., Ploszynska, A., Zaucha, J. M., Vlachos, A., Atsidaftos, E., Viskochil, D. H., Niemeyer, C. M., Meerpohl, J. J., Rokicka-Milewska, R., Pospisilova, D., Wiktor-Jedrzejczak, W., Nathan, D. G., Beggs, A. H., Sieff, C. A. <strong>RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.</strong> Brit. J. Haemat. 127: 105-113, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15384984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15384984</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2004.05152.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15384984">Gazda et al. (2004)</a> presented RNA and protein evidence that the DBA phenotype caused by mutations in the RPS19 gene results from haploinsufficiency of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15384984" 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>It is well established that mutated mRNA containing a premature stop codon or lacking a stop codon can be rapidly degraded by specific mechanisms called, respectively, nonsense-mediated decay and nonstop decay. To study the involvement of such mechanisms in Diamond-Blackfan anemia, <a href="#2" class="mim-tip-reference" title="Chatr-aryamontri, A., Angelini, M., Garelli, E., Tchernia, G., Ramenghi, U., Dianzani, I., Loreni, F. <strong>Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.</strong> Hum. Mutat. 24: 526-533, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15523650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15523650</a>] [<a href="https://doi.org/10.1002/humu.20117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15523650">Chatr-aryamontri et al. (2004)</a> immortalized lymphoblastoid cells and primary fibroblasts from patients presenting different kinds of mutations in the RPS19 gene, generating allelic deletion, missense, nonsense, and nonstop messengers. They found that RPS19 mRNA levels were decreased in the cells with allelic deletion and, to a variable extent, also in all the cells lines with premature stop codon or nonstop mutations. Further analysis showed that translation inhibition causes a stabilization of the mutated RPS19 mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15523650" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Gregory, L. A., Aguissa-Toure, A.-H., Pinaud, N., Legrand, P., Gleizes, P.-E., Fribourg, S. <strong>Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.</strong> Nucleic Acids Res. 35: 5913-5921, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17726054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17726054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17726054[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/nar/gkm626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17726054">Gregory et al. (2007)</a> used the crystal structure of Rps19 derived from Pyrococcus abyssi to classify DBA mutations relative to their respective impact on protein folding, structure, and stability (class I) or on surface properties (class II) that did not affect protein stability. Class II mutations clustered into 2 conserved basic patches, and studies in yeast demonstrated an essential role for class II residues in the function of RPS19 and its incorporation into pre-40S ribosomal particles. The data indicated that missense mutations in DBA primarily affect the capacity of the protein to be incorporated into pre-ribosomes, thus blocking maturation of the pre-40Sa central particles. Most missense mutations clustered within or around alpha-helix-3 (residues 52 to 67 in humans). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17726054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T. <strong>Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.</strong> Hum. Genet. 132: 1265-1274, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812780</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23812780[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s00439-013-1326-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23812780">Landowski et al. (2013)</a> performed array CGH for copy number variation in 87 probands with Diamond-Blackfan anemia who were negative for mutation in 10 known DBA-associated ribosomal protein genes, and identified a large deletion in the RPS19 gene (<a href="#0009">603474.0009</a>) in a steroid-dependent male patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23812780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#11" class="mim-tip-reference" title="Matsson, H., Davey, E. J., Draptchinskaia, N., Hamaguchi, I., Ooka, A., Leveen, P., Forsberg, E., Karlsson, S., Dahl, N. <strong>Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation.</strong> Molec. Cell. Biol. 24: 4032-4037, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15082795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15082795</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15082795[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.24.9.4032-4037.2004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15082795">Matsson et al. (2004)</a> found that homozygous disruption of the mouse Rps19 gene was lethal before the blastocyst stage. In contrast, heterozygous mice showed normal growth and organ development, including that of the hematopoietic system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15082795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="McGowan, K. A., Li, J. Z., Park, C. Y., Beaudry, V., Tabor, H. K., Sabnis, A. J., Zhang, W., Fuchs, H., de Angelis, M. H., Myers, R. M., Attardi, L. D., Barsh, G. S. <strong>Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.</strong> Nature Genet. 40: 963-970, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18641651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18641651</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18641651[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18641651">McGowan et al. (2008)</a> reported 2 mouse 'dark skin' loci, Dsk3 and Dsk4, caused by mutations in Rps19 and Rps20 (<a href="/entry/603682">603682</a>), respectively. These mice have dark paws, tail skin, and ears, with melanocytosis limited to the epidermis. In the model proposed by <a href="#13" class="mim-tip-reference" title="McGowan, K. A., Li, J. Z., Park, C. Y., Beaudry, V., Tabor, H. K., Sabnis, A. J., Zhang, W., Fuchs, H., de Angelis, M. H., Myers, R. M., Attardi, L. D., Barsh, G. S. <strong>Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.</strong> Nature Genet. 40: 963-970, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18641651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18641651</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18641651[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18641651">McGowan et al. (2008)</a>, reduced dosage of Rps6 (<a href="/entry/180460">180460</a>), Rps19, or Rps20 triggers stabilization and/or activation of p53 (<a href="/entry/191170">191170</a>), which gives rise to a pleiotropic phenotype whose components depend on the sensitivity and response of individual cell types and on specific downstream targets of p53. Stabilization of p53 stimulates Kit ligand (KITLG; <a href="/entry/184745">184745</a>) expression and, consequently, epidermal melanocytosis via a paracrine mechanism. Increased apoptosis causes erythrocyte hypoplasia and anemia, and activation of p53 causes reduced growth and decreased body size. <a href="#13" class="mim-tip-reference" title="McGowan, K. A., Li, J. Z., Park, C. Y., Beaudry, V., Tabor, H. K., Sabnis, A. J., Zhang, W., Fuchs, H., de Angelis, M. H., Myers, R. M., Attardi, L. D., Barsh, G. S. <strong>Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.</strong> Nature Genet. 40: 963-970, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18641651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18641651</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18641651[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18641651">McGowan et al. (2008)</a> concluded that their results provide a mechanistic explanation for the diverse collection of phenotypes that accompany reduced dosage of genes encoding ribosomal proteins, and have implications for understanding normal human variation and human disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18641651" 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> rs61762293 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61762293;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/rs61762293?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=rs61762293" 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=rs61762293" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 sisters and their mother with Diamond-Blackfan anemia (DBA1; <a href="/entry/105650">105650</a>), <a href="#4" class="mim-tip-reference" title="Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.-N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., Tentler, D., Mohandas, N., Carlsson, B., Dahl, N. <strong>The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.</strong> Nature Genet. 21: 169-175, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9988267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9988267</a>] [<a href="https://doi.org/10.1038/5951" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9988267">Draptchinskaia et al. (1999)</a> found a heterozygous C-to-T transition in the RPS19 gene causing an arg94-to-ter (R94X) substitution. The sisters were discordant for associated malformations: one of them presented with limb malformations and duplicated ureter, whereas the other had congenital glaucoma. The mother had normal hemoglobin levels and no malformations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9988267" 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">rs104894711 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894711;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=rs104894711" 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=rs104894711" 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=RCV000033183 OR RCV000497714 OR RCV001065746 OR RCV003415668" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033183, RCV000497714, RCV001065746, RCV003415668" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033183...</a>
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<p>In 2 unrelated patients of Swedish and Italian origin with Diamond-Blackfan anemia (<a href="/entry/105650">105650</a>), <a href="#4" class="mim-tip-reference" title="Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.-N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., Tentler, D., Mohandas, N., Carlsson, B., Dahl, N. <strong>The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.</strong> Nature Genet. 21: 169-175, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9988267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9988267</a>] [<a href="https://doi.org/10.1038/5951" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9988267">Draptchinskaia et al. (1999)</a> identified a 184C-T transition in the RPS19 gene, resulting in an arg62-to-trp (R62W) substitution. The mutation was found to segregate with the 2 affected individuals of a Swedish family, whereas the mutation in the Italian family occurred de novo. The patients did not share a flanking haplotype, suggesting recurrent mutation events. The mutation was present in heterozygous state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9988267" 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 DIAMOND-BLACKFAN ANEMIA 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894716 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894716;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=rs104894716" 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=rs104894716" 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=RCV000033184 OR RCV001237459" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033184, RCV001237459" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033184...</a>
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<p>In a sporadic case of Diamond-Blackfan anemia (<a href="/entry/105650">105650</a>), <a href="#12" class="mim-tip-reference" title="Matsson, H., Klar, J., Draptchinskaia, N., Gustavsson, P., Carlsson, B., Bowers, D., de Bont, E., Dahl, N. <strong>Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia.</strong> Hum. Genet. 105: 496-500, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10598818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10598818</a>] [<a href="https://doi.org/10.1007/s004399900165" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10598818">Matsson et al. (1999)</a> identified a heterozygous 120G-A transition in the RPS19 gene, resulting in a trp33-to-ter (W33X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10598818" 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 DIAMOND-BLACKFAN ANEMIA 1</strong>
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RPS19, ARG84TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908649 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908649;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=rs121908649" 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=rs121908649" 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=RCV000033185" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033185" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033185</a>
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<p>In a patient with Diamond-Blackfan anemia (<a href="/entry/105650">105650</a>), <a href="#12" class="mim-tip-reference" title="Matsson, H., Klar, J., Draptchinskaia, N., Gustavsson, P., Carlsson, B., Bowers, D., de Bont, E., Dahl, N. <strong>Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia.</strong> Hum. Genet. 105: 496-500, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10598818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10598818</a>] [<a href="https://doi.org/10.1007/s004399900165" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10598818">Matsson et al. (1999)</a> identified a heterozygous 302C-T transition in the RPS19 gene, resulting in an arg84-to-ter (R84X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10598818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 DIAMOND-BLACKFAN ANEMIA 1</strong>
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RPS19, 1-BP DEL, 329G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs786200935 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786200935;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=rs786200935" 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=rs786200935" 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=RCV000033186" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033186" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033186</a>
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<p>In a patient with Diamond-Blackfan anemia (<a href="/entry/105650">105650</a>), <a href="#12" class="mim-tip-reference" title="Matsson, H., Klar, J., Draptchinskaia, N., Gustavsson, P., Carlsson, B., Bowers, D., de Bont, E., Dahl, N. <strong>Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia.</strong> Hum. Genet. 105: 496-500, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10598818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10598818</a>] [<a href="https://doi.org/10.1007/s004399900165" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10598818">Matsson et al. (1999)</a> identified a 1-bp deletion (329delG) in the RPS19 gene, resulting in a frameshift starting at codon 103. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10598818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 DIAMOND-BLACKFAN ANEMIA 1</strong>
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RPS19, LEU45GLN AND 2-BP INS, 160CT
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000033187" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033187" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033187</a>
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<p><a href="#12" class="mim-tip-reference" title="Matsson, H., Klar, J., Draptchinskaia, N., Gustavsson, P., Carlsson, B., Bowers, D., de Bont, E., Dahl, N. <strong>Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia.</strong> Hum. Genet. 105: 496-500, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10598818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10598818</a>] [<a href="https://doi.org/10.1007/s004399900165" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10598818">Matsson et al. (1999)</a> identified a complex mutation of the RPS19 gene in 3 members of a family with variable phenotypes of Diamond-Blackfan anemia (<a href="/entry/105650">105650</a>). The mutation was a TT-to-AA transversion at nucleotides 157-158, resulting in a leu45-to-gln (L45Q) substitution, and a 2-bp insertion (160insCT), resulting in a frameshift at codon 46. The father and elder sister were diagnosed with mild anemia at 35 years of age and 5 years of age, respectively. The proband was diagnosed at 15 months of age and initially required transfusions every third week. At age 18 years she still required transfusions every third month. The father and sister did not require therapy, and both had hemoglobin levels within the normal range. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10598818" 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 id="0007" class="mim-anchor"></a>
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<strong>.0007 DIAMOND-BLACKFAN ANEMIA 1</strong>
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RPS19, VAL15PHE AND THR55MET
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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> rs104894717 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894717;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/rs104894717?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=rs104894717" 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=rs104894717" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <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> rs147508369 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs147508369;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/rs147508369?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=rs147508369" 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=rs147508369" 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=RCV000033188 OR RCV000471188 OR RCV000482973 OR RCV001331478 OR RCV001507957 OR RCV001843501" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033188, RCV000471188, RCV000482973, RCV001331478, RCV001507957, RCV001843501" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033188...</a>
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<p>In a girl with sporadic Diamond-Blackfan anemia (<a href="/entry/105650">105650</a>) who was small for gestational age, <a href="#3" class="mim-tip-reference" title="Da Costa, L., Tchernia, G., Gascard, P., Lo, A., Meerpohl, J., Niemeyer, C., Chasis, J.-A., Fixler, J., Mohandas, N. <strong>Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.</strong> Blood 101: 5039-5045, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12586610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12586610</a>] [<a href="https://doi.org/10.1182/blood-2002-12-3878" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12586610">Da Costa et al. (2003)</a> found a double mutation, val15-to-phe (V15F) and thr55- to-met (T55M), in the RPS19 gene on the same chromosome. The V15F mutation alone was shown to interfere with nucleolar localization of the RPS19 protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12586610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 DIAMOND-BLACKFAN ANEMIA 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs786200936 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786200936;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=rs786200936" 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=rs786200936" 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=RCV000033189 OR RCV002512845" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033189, RCV002512845" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033189...</a>
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<p><a href="#1" class="mim-tip-reference" title="Angelini, M., Cannata, S., Mercaldo, V., Gibello, L., Santoro, C., Dianzani, I., Loreni, F. <strong>Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.</strong> Hum. Molec. Genet. 16: 1720-1727, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17517689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17517689</a>] [<a href="https://doi.org/10.1093/hmg/ddm120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17517689">Angelini et al. (2007)</a> noted that this mutation is a 380G-A transition in the RPS19 gene, resulting in a gly127-to-glu (G127E) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17517689" 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 female child in whom the diagnosis of Diamond-Blackfan anemia (<a href="/entry/105650">105650</a>) had been made at the age of 1 month, <a href="#15" class="mim-tip-reference" title="Willig, T.-N., Draptchinskaia, N., Dianzani, I., Ball, S., Niemeyer, C., Ramenghi, U., Orfali, K., Gustavsson, P., Garelli, E., Brusco, A., Tiemann, C., Perignon, J. L., Bouchier, C., Cicchiello, L., Dahl, N., Mohandas, N., Tchernia, G. <strong>Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression.</strong> Blood 94: 4294-4306, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10590074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10590074</a>]" pmid="10590074">Willig et al. (1999)</a> identified a 380G-A transition in the RPS19 gene, which they reported to result in a gly127-to-gln substitution. <a href="#3" class="mim-tip-reference" title="Da Costa, L., Tchernia, G., Gascard, P., Lo, A., Meerpohl, J., Niemeyer, C., Chasis, J.-A., Fixler, J., Mohandas, N. <strong>Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.</strong> Blood 101: 5039-5045, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12586610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12586610</a>] [<a href="https://doi.org/10.1182/blood-2002-12-3878" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12586610">Da Costa et al. (2003)</a> noted that the patient was small for gestational age and showed deafness and hip hypoplasia. They found that the mutation resulted in failure of the RPS19 protein to localize to the nucleolus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12586610+10590074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 DIAMOND-BLACKFAN ANEMIA 1</strong>
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RPS19, 5,070-BP DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000074476" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000074476" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000074476</a>
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<p>In a steroid-dependent male patient with Diamond-Blackfan anemia (<a href="/entry/105650">105650</a>), <a href="#10" class="mim-tip-reference" title="Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T. <strong>Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.</strong> Hum. Genet. 132: 1265-1274, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812780</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23812780[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s00439-013-1326-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23812780">Landowski et al. (2013)</a> identified heterozygosity for a 5,070-bp deletion at chr19:47,056,452-47,061,521 (NCBI36), containing exons 2 and 3 of the RPS19 gene. The patient also had a webbed neck. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23812780" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>REFERENCES</strong>
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<a id="Angelini2007" class="mim-anchor"></a>
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Angelini, M., Cannata, S., Mercaldo, V., Gibello, L., Santoro, C., Dianzani, I., Loreni, F.
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<strong>Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.</strong>
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Hum. Molec. Genet. 16: 1720-1727, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17517689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17517689</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17517689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddm120" target="_blank">Full Text</a>]
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Chatr-aryamontri, A., Angelini, M., Garelli, E., Tchernia, G., Ramenghi, U., Dianzani, I., Loreni, F.
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<strong>Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.</strong>
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Hum. Mutat. 24: 526-533, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15523650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15523650</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15523650" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20117" target="_blank">Full Text</a>]
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Da Costa, L., Tchernia, G., Gascard, P., Lo, A., Meerpohl, J., Niemeyer, C., Chasis, J.-A., Fixler, J., Mohandas, N.
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<strong>Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.</strong>
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Blood 101: 5039-5045, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12586610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12586610</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12586610" 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/10.1182/blood-2002-12-3878" target="_blank">Full Text</a>]
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Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.-N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., Tentler, D., Mohandas, N., Carlsson, B., Dahl, N.
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<strong>The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.</strong>
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Nature Genet. 21: 169-175, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9988267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9988267</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9988267" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/5951" target="_blank">Full Text</a>]
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Flygare, J., Aspesi, A., Bailey, J. C., Miyake, K., Caffrey, J. M., Karlsson, S., Ellis, S. R.
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<strong>Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.</strong>
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Blood 109: 980-986, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16990592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16990592</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16990592[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16990592" 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/10.1182/blood-2006-07-038232" target="_blank">Full Text</a>]
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Gazda, H. T., Zhong, R., Long, L., Niewiadomska, E., Lipton, J. M., Ploszynska, A., Zaucha, J. M., Vlachos, A., Atsidaftos, E., Viskochil, D. H., Niemeyer, C. M., Meerpohl, J. J., Rokicka-Milewska, R., Pospisilova, D., Wiktor-Jedrzejczak, W., Nathan, D. G., Beggs, A. H., Sieff, C. A.
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<strong>RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.</strong>
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Brit. J. Haemat. 127: 105-113, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15384984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15384984</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15384984" 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.1365-2141.2004.05152.x" target="_blank">Full Text</a>]
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</p>
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<a id="7" class="mim-anchor"></a>
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<a id="Gregory2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gregory, L. A., Aguissa-Toure, A.-H., Pinaud, N., Legrand, P., Gleizes, P.-E., Fribourg, S.
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<strong>Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.</strong>
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Nucleic Acids Res. 35: 5913-5921, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17726054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17726054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17726054[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17726054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/gkm626" target="_blank">Full Text</a>]
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</p>
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<a id="8" class="mim-anchor"></a>
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<a id="Kenmochi1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C.
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<strong>A map of 75 human ribosomal protein genes.</strong>
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Genome Res. 8: 509-523, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582194</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9582194" 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/10.1101/gr.8.5.509" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Kondoh1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kondoh, N., Schweinfest, C. W., Henderson, K. W., Papas, T. S.
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<strong>Differential expression of S19 ribosomal protein, laminin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation.</strong>
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Cancer Res. 52: 791-796, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1339304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1339304</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1339304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Landowski2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T.
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<strong>Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.</strong>
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Hum. Genet. 132: 1265-1274, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812780</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23812780[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23812780" 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/s00439-013-1326-z" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Matsson2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Matsson, H., Davey, E. J., Draptchinskaia, N., Hamaguchi, I., Ooka, A., Leveen, P., Forsberg, E., Karlsson, S., Dahl, N.
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<strong>Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation.</strong>
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Molec. Cell. Biol. 24: 4032-4037, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15082795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15082795</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15082795[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15082795" 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/10.1128/MCB.24.9.4032-4037.2004" target="_blank">Full Text</a>]
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Matsson1999" class="mim-anchor"></a>
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<div class="">
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Matsson, H., Klar, J., Draptchinskaia, N., Gustavsson, P., Carlsson, B., Bowers, D., de Bont, E., Dahl, N.
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<strong>Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia.</strong>
|
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Hum. Genet. 105: 496-500, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10598818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10598818</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10598818" 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/s004399900165" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="McGowan2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McGowan, K. A., Li, J. Z., Park, C. Y., Beaudry, V., Tabor, H. K., Sabnis, A. J., Zhang, W., Fuchs, H., de Angelis, M. H., Myers, R. M., Attardi, L. D., Barsh, G. S.
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<strong>Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.</strong>
|
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Nature Genet. 40: 963-970, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18641651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18641651</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18641651[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18641651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.188" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Tentler2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tentler, D., Gustavsson, P., Elinder, G., Eklof, O., Gordon, L., Mandel, A., Dahl, N.
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<strong>A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome.</strong>
|
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J. Med. Genet. 37: 128-131, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10662814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10662814</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10662814" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.37.2.128" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Willig1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Willig, T.-N., Draptchinskaia, N., Dianzani, I., Ball, S., Niemeyer, C., Ramenghi, U., Orfali, K., Gustavsson, P., Garelli, E., Brusco, A., Tiemann, C., Perignon, J. L., Bouchier, C., Cicchiello, L., Dahl, N., Mohandas, N., Tchernia, G.
|
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<strong>Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression.</strong>
|
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Blood 94: 4294-4306, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10590074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10590074</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10590074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</ol>
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<div>
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<br />
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</div>
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<span class="mim-text-font">
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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 : 11/27/2013
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/11/2009<br>Patricia A. Hartz - updated : 12/31/2008<br>Ada Hamosh - updated : 10/24/2008<br>Cassandra L. Kniffin -updated : 6/15/2005<br>Victor A. McKusick - updated : 1/10/2005<br>Patricia A. Hartz - updated : 6/25/2004<br>Victor A. McKusick - updated : 9/4/2003<br>Victor A. McKusick - updated : 12/6/1999<br>Patti M. Sherman - updated : 3/30/1999
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</span>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 2/2/1999
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 10/17/2016
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/01/2015<br>joanna : 3/31/2015<br>carol : 12/2/2013<br>mcolton : 11/27/2013<br>wwang : 3/19/2009<br>ckniffin : 3/11/2009<br>mgross : 1/5/2009<br>mgross : 1/5/2009<br>terry : 12/31/2008<br>alopez : 11/10/2008<br>terry : 10/24/2008<br>carol : 6/23/2005<br>ckniffin : 6/15/2005<br>alopez : 2/15/2005<br>terry : 2/7/2005<br>wwang : 1/25/2005<br>terry : 1/10/2005<br>mgross : 7/1/2004<br>terry : 6/25/2004<br>cwells : 9/8/2003<br>terry : 9/4/2003<br>cwells : 8/10/2001<br>cwells : 8/2/2001<br>mgross : 12/10/1999<br>terry : 12/6/1999<br>psherman : 4/5/1999<br>carol : 4/2/1999<br>carol : 4/1/1999<br>alopez : 2/2/1999
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</span>
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</div>
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</div>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603474
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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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RIBOSOMAL PROTEIN S19; RPS19
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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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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: RPS19</em></strong>
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</span>
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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: 19q13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 19:41,860,255-41,872,925 </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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<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>
|
|
<tbody>
|
|
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<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
19q13.2
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Diamond-Blackfan anemia 1
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
105650
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
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|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
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</div>
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<div>
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<br />
|
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</div>
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<div>
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|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
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</h4>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>The mammalian ribosome is composed of 4 RNA species (see 180450) and approximately 80 different proteins, including RPS19. The RPS19 protein is a component of the 40S ribosomal subunit (Gregory et al., 2007). </p>
|
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</span>
|
|
<div>
|
|
<br />
|
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</div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<span class="mim-text-font">
|
|
<p>Kondoh et al. (1992) cloned a cDNA encoding ribosomal protein S19 from a colon tumor-enriched subtraction cDNA library. Northern blot analysis showed that the 0.6-kb RPS19 mRNA was expressed at higher levels in 6 of 7 primary colon carcinomas than in matched normal colon tissues. The deduced human and rat RPS19 proteins differ by 1 amino acid. </p><p>By Northern blot analysis, Draptchinskaia et al. (1999) found that the RPS19 gene is expressed in several human adult tissues including bone marrow, peripheral blood, spleen, and liver, as well as nonhematopoietic tissues. Ribosomal protein S19 consists of 145 amino acids with a predicted molecular mass of 16 kD and an isoelectric point of 10.3. The protein lacks cysteine residues and the hydropathy profile predicts the presence of hydrophobic domains. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using wildtype and mutant RPS19 cDNA, Da Costa et al. (2003) explored the subcellular distribution of normal and mutant proteins in a fibroblast cell line (COS-7 cells). RPS19 was detected primarily in the nucleus, and more specifically in the nucleoli, where RPS19 colocalized with the nucleolar protein nucleolin (NCL; 164035). Using various N-terminal and C-terminal deletion constructs, they identified 2 nucleolar localization signals in RPS19: the first comprising amino acids met1 to arg16 in the NH2 terminus and the second comprising gly120 to asn142 in the COOH terminus. Importantly, 2 mutations identified in Diamond-Blackfan anemia (DBA; 105650) patients, val15 to phe (603474.0007) and gly127 to glu (603474.0008), each of which localized to 1 of the 2 nucleolar localization signals, failed to localize RPS19 to the nucleolus. In addition to their mislocalization, there was a dramatic decrease in the expression of the 2 mutant proteins compared to the wildtype. This decrease in protein expression was specific for the mutant RPS19, since expression of other proteins was normal. </p><p>Using small interfering RNA (siRNA), Flygare et al. (2007) showed that reduced expression of RPS19 in a human erythroleukemia cell line led to a defect in maturation of the 40S ribosomal subunits, affected erythroid differentiation, and increased apoptosis. Cells expressing siRNA targeting RPS19 failed to efficiently cleave 21S pre-rRNAs at the E site within internal transcribed sequence-1, which would normally lead to formation of the mature 3-prime end of the 18S rRNA. CD34 (142230)-negative and CD34-positive bone marrow cells from DBA patients with mutations in RPS19 showed an increased ratio of 21S to 18SE pre-rRNA compared with healthy controls, and the defect was more pronounced in CD34-negative patient cells. Flygare et al. (2007) concluded that RPS19 is required for efficient E site cleavage and maturation of 40S ribosomal subunits. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Draptchinskaia et al. (1999) found that the RPS19 gene is 11 kb long with 6 exons. The first exon is untranslated and the ATG, which corresponds with the start codon (AUG) in the cDNA, is located at the beginning of exon 2. No TATA or CAAT boxes were identified. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Crystal Structure</em></strong></p><p>
|
|
Gregory et al. (2007) determined the crystal structure of Rps19 from Pyrococcus abyssi. The protein forms a 5 alpha-helix bundle organized around a central amphipathic alpha-helix. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By somatic cell hybrid and radiation hybrid mapping analyses, Kenmochi et al. (1998) mapped the RPS19 gene to 19q13.2 (GenBank AB007155). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cytogenetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Draptchinskaia et al. (1999) found that the RPS19 gene was interrupted in its third intron in a female patient with a de novo balanced translocation t(X;19)(p21;q13) associated with DBA. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a screen for mutations of the RPS19 gene in 40 unrelated individuals with Diamond-Blackfan anemia (105650), Draptchinskaia et al. (1999) found 9 different mutations in 10 probands. Six of the patients with mutations had a family history of the disorder. No mutations were found in the 5-prime untranslated region or in the sequence encoding the 5 translated exons in 30 other probands. All patients with mutations were heterozygous for the alterations and no additional sequence variations in the protein-coding region of the gene were found. </p><p>Willig et al. (1999) analyzed 190 DBA patients and found alterations in RPS19 sequences in about 24% of the cases. </p><p>Tentler et al. (2000) reported a 12-year-old male with moderate psychomotor retardation, anemia, and skeletal changes. He was found to have a heterozygous microdeletion of 19q13.2 over a 3.2-Mb region that included the RPS19 gene. Tentler et al. (2000) suggested that this combination of features was due to a contiguous gene defect at that locus. </p><p>Gazda et al. (2004) presented RNA and protein evidence that the DBA phenotype caused by mutations in the RPS19 gene results from haploinsufficiency of the protein. </p><p>It is well established that mutated mRNA containing a premature stop codon or lacking a stop codon can be rapidly degraded by specific mechanisms called, respectively, nonsense-mediated decay and nonstop decay. To study the involvement of such mechanisms in Diamond-Blackfan anemia, Chatr-aryamontri et al. (2004) immortalized lymphoblastoid cells and primary fibroblasts from patients presenting different kinds of mutations in the RPS19 gene, generating allelic deletion, missense, nonsense, and nonstop messengers. They found that RPS19 mRNA levels were decreased in the cells with allelic deletion and, to a variable extent, also in all the cells lines with premature stop codon or nonstop mutations. Further analysis showed that translation inhibition causes a stabilization of the mutated RPS19 mRNA. </p><p>Gregory et al. (2007) used the crystal structure of Rps19 derived from Pyrococcus abyssi to classify DBA mutations relative to their respective impact on protein folding, structure, and stability (class I) or on surface properties (class II) that did not affect protein stability. Class II mutations clustered into 2 conserved basic patches, and studies in yeast demonstrated an essential role for class II residues in the function of RPS19 and its incorporation into pre-40S ribosomal particles. The data indicated that missense mutations in DBA primarily affect the capacity of the protein to be incorporated into pre-ribosomes, thus blocking maturation of the pre-40Sa central particles. Most missense mutations clustered within or around alpha-helix-3 (residues 52 to 67 in humans). </p><p>Landowski et al. (2013) performed array CGH for copy number variation in 87 probands with Diamond-Blackfan anemia who were negative for mutation in 10 known DBA-associated ribosomal protein genes, and identified a large deletion in the RPS19 gene (603474.0009) in a steroid-dependent male patient. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Matsson et al. (2004) found that homozygous disruption of the mouse Rps19 gene was lethal before the blastocyst stage. In contrast, heterozygous mice showed normal growth and organ development, including that of the hematopoietic system. </p><p>McGowan et al. (2008) reported 2 mouse 'dark skin' loci, Dsk3 and Dsk4, caused by mutations in Rps19 and Rps20 (603682), respectively. These mice have dark paws, tail skin, and ears, with melanocytosis limited to the epidermis. In the model proposed by McGowan et al. (2008), reduced dosage of Rps6 (180460), Rps19, or Rps20 triggers stabilization and/or activation of p53 (191170), which gives rise to a pleiotropic phenotype whose components depend on the sensitivity and response of individual cell types and on specific downstream targets of p53. Stabilization of p53 stimulates Kit ligand (KITLG; 184745) expression and, consequently, epidermal melanocytosis via a paracrine mechanism. Increased apoptosis causes erythrocyte hypoplasia and anemia, and activation of p53 causes reduced growth and decreased body size. McGowan et al. (2008) concluded that their results provide a mechanistic explanation for the diverse collection of phenotypes that accompany reduced dosage of genes encoding ribosomal proteins, and have implications for understanding normal human variation and human disease. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>9 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 DIAMOND-BLACKFAN ANEMIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RPS19, ARG94TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs61762293,
|
|
|
|
|
|
gnomAD: rs61762293,
|
|
|
|
|
|
ClinVar: RCV000033182, RCV000272977, RCV002433445
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sisters and their mother with Diamond-Blackfan anemia (DBA1; 105650), Draptchinskaia et al. (1999) found a heterozygous C-to-T transition in the RPS19 gene causing an arg94-to-ter (R94X) substitution. The sisters were discordant for associated malformations: one of them presented with limb malformations and duplicated ureter, whereas the other had congenital glaucoma. The mother had normal hemoglobin levels and no malformations. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 DIAMOND-BLACKFAN ANEMIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RPS19, ARG62TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894711,
|
|
|
|
|
|
|
|
ClinVar: RCV000033183, RCV000497714, RCV001065746, RCV003415668
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated patients of Swedish and Italian origin with Diamond-Blackfan anemia (105650), Draptchinskaia et al. (1999) identified a 184C-T transition in the RPS19 gene, resulting in an arg62-to-trp (R62W) substitution. The mutation was found to segregate with the 2 affected individuals of a Swedish family, whereas the mutation in the Italian family occurred de novo. The patients did not share a flanking haplotype, suggesting recurrent mutation events. The mutation was present in heterozygous state. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 DIAMOND-BLACKFAN ANEMIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RPS19, TRP33TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894716,
|
|
|
|
|
|
|
|
ClinVar: RCV000033184, RCV001237459
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a sporadic case of Diamond-Blackfan anemia (105650), Matsson et al. (1999) identified a heterozygous 120G-A transition in the RPS19 gene, resulting in a trp33-to-ter (W33X) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 DIAMOND-BLACKFAN ANEMIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RPS19, ARG84TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908649,
|
|
|
|
|
|
|
|
ClinVar: RCV000033185
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Diamond-Blackfan anemia (105650), Matsson et al. (1999) identified a heterozygous 302C-T transition in the RPS19 gene, resulting in an arg84-to-ter (R84X) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 DIAMOND-BLACKFAN ANEMIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RPS19, 1-BP DEL, 329G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786200935,
|
|
|
|
|
|
|
|
ClinVar: RCV000033186
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Diamond-Blackfan anemia (105650), Matsson et al. (1999) identified a 1-bp deletion (329delG) in the RPS19 gene, resulting in a frameshift starting at codon 103. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 DIAMOND-BLACKFAN ANEMIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RPS19, LEU45GLN AND 2-BP INS, 160CT
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000033187
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Matsson et al. (1999) identified a complex mutation of the RPS19 gene in 3 members of a family with variable phenotypes of Diamond-Blackfan anemia (105650). The mutation was a TT-to-AA transversion at nucleotides 157-158, resulting in a leu45-to-gln (L45Q) substitution, and a 2-bp insertion (160insCT), resulting in a frameshift at codon 46. The father and elder sister were diagnosed with mild anemia at 35 years of age and 5 years of age, respectively. The proband was diagnosed at 15 months of age and initially required transfusions every third week. At age 18 years she still required transfusions every third month. The father and sister did not require therapy, and both had hemoglobin levels within the normal range. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
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|
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</div>
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|
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 DIAMOND-BLACKFAN ANEMIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
RPS19, VAL15PHE AND THR55MET
|
|
|
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<br />
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SNP: rs104894717, rs147508369,
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gnomAD: rs104894717, rs147508369,
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ClinVar: RCV000033188, RCV000471188, RCV000482973, RCV001331478, RCV001507957, RCV001843501
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</span>
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</div>
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<span class="mim-text-font">
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<p>In a girl with sporadic Diamond-Blackfan anemia (105650) who was small for gestational age, Da Costa et al. (2003) found a double mutation, val15-to-phe (V15F) and thr55- to-met (T55M), in the RPS19 gene on the same chromosome. The V15F mutation alone was shown to interfere with nucleolar localization of the RPS19 protein. </p>
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</span>
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 DIAMOND-BLACKFAN ANEMIA 1</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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RPS19, GLY127GLU
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<br />
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SNP: rs786200936,
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ClinVar: RCV000033189, RCV002512845
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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>Angelini et al. (2007) noted that this mutation is a 380G-A transition in the RPS19 gene, resulting in a gly127-to-glu (G127E) substitution. </p><p>In a female child in whom the diagnosis of Diamond-Blackfan anemia (105650) had been made at the age of 1 month, Willig et al. (1999) identified a 380G-A transition in the RPS19 gene, which they reported to result in a gly127-to-gln substitution. Da Costa et al. (2003) noted that the patient was small for gestational age and showed deafness and hip hypoplasia. They found that the mutation resulted in failure of the RPS19 protein to localize to the nucleolus. </p>
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</span>
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0009 DIAMOND-BLACKFAN ANEMIA 1</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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RPS19, 5,070-BP DEL
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<br />
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ClinVar: RCV000074476
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a steroid-dependent male patient with Diamond-Blackfan anemia (105650), Landowski et al. (2013) identified heterozygosity for a 5,070-bp deletion at chr19:47,056,452-47,061,521 (NCBI36), containing exons 2 and 3 of the RPS19 gene. The patient also had a webbed neck. </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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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Angelini, M., Cannata, S., Mercaldo, V., Gibello, L., Santoro, C., Dianzani, I., Loreni, F.
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<strong>Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.</strong>
|
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Hum. Molec. Genet. 16: 1720-1727, 2007.
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[PubMed: 17517689]
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[Full Text: https://doi.org/10.1093/hmg/ddm120]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Chatr-aryamontri, A., Angelini, M., Garelli, E., Tchernia, G., Ramenghi, U., Dianzani, I., Loreni, F.
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<strong>Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.</strong>
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Hum. Mutat. 24: 526-533, 2004.
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[PubMed: 15523650]
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[Full Text: https://doi.org/10.1002/humu.20117]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Da Costa, L., Tchernia, G., Gascard, P., Lo, A., Meerpohl, J., Niemeyer, C., Chasis, J.-A., Fixler, J., Mohandas, N.
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|
<strong>Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.</strong>
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Blood 101: 5039-5045, 2003.
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[PubMed: 12586610]
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[Full Text: https://doi.org/10.1182/blood-2002-12-3878]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.-N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., Tentler, D., Mohandas, N., Carlsson, B., Dahl, N.
|
|
<strong>The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.</strong>
|
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Nature Genet. 21: 169-175, 1999.
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[PubMed: 9988267]
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[Full Text: https://doi.org/10.1038/5951]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Flygare, J., Aspesi, A., Bailey, J. C., Miyake, K., Caffrey, J. M., Karlsson, S., Ellis, S. R.
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<strong>Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.</strong>
|
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Blood 109: 980-986, 2007.
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[PubMed: 16990592]
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[Full Text: https://doi.org/10.1182/blood-2006-07-038232]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gazda, H. T., Zhong, R., Long, L., Niewiadomska, E., Lipton, J. M., Ploszynska, A., Zaucha, J. M., Vlachos, A., Atsidaftos, E., Viskochil, D. H., Niemeyer, C. M., Meerpohl, J. J., Rokicka-Milewska, R., Pospisilova, D., Wiktor-Jedrzejczak, W., Nathan, D. G., Beggs, A. H., Sieff, C. A.
|
|
<strong>RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.</strong>
|
|
Brit. J. Haemat. 127: 105-113, 2004.
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[PubMed: 15384984]
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[Full Text: https://doi.org/10.1111/j.1365-2141.2004.05152.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gregory, L. A., Aguissa-Toure, A.-H., Pinaud, N., Legrand, P., Gleizes, P.-E., Fribourg, S.
|
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<strong>Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.</strong>
|
|
Nucleic Acids Res. 35: 5913-5921, 2007.
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[PubMed: 17726054]
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[Full Text: https://doi.org/10.1093/nar/gkm626]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C.
|
|
<strong>A map of 75 human ribosomal protein genes.</strong>
|
|
Genome Res. 8: 509-523, 1998.
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|
|
[PubMed: 9582194]
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[Full Text: https://doi.org/10.1101/gr.8.5.509]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Kondoh, N., Schweinfest, C. W., Henderson, K. W., Papas, T. S.
|
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<strong>Differential expression of S19 ribosomal protein, laminin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation.</strong>
|
|
Cancer Res. 52: 791-796, 1992.
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|
|
[PubMed: 1339304]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T.
|
|
<strong>Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.</strong>
|
|
Hum. Genet. 132: 1265-1274, 2013.
|
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|
|
[PubMed: 23812780]
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[Full Text: https://doi.org/10.1007/s00439-013-1326-z]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Matsson, H., Davey, E. J., Draptchinskaia, N., Hamaguchi, I., Ooka, A., Leveen, P., Forsberg, E., Karlsson, S., Dahl, N.
|
|
<strong>Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation.</strong>
|
|
Molec. Cell. Biol. 24: 4032-4037, 2004.
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[PubMed: 15082795]
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[Full Text: https://doi.org/10.1128/MCB.24.9.4032-4037.2004]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Matsson, H., Klar, J., Draptchinskaia, N., Gustavsson, P., Carlsson, B., Bowers, D., de Bont, E., Dahl, N.
|
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<strong>Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia.</strong>
|
|
Hum. Genet. 105: 496-500, 1999.
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|
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[PubMed: 10598818]
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[Full Text: https://doi.org/10.1007/s004399900165]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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McGowan, K. A., Li, J. Z., Park, C. Y., Beaudry, V., Tabor, H. K., Sabnis, A. J., Zhang, W., Fuchs, H., de Angelis, M. H., Myers, R. M., Attardi, L. D., Barsh, G. S.
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<strong>Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.</strong>
|
|
Nature Genet. 40: 963-970, 2008.
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[PubMed: 18641651]
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[Full Text: https://doi.org/10.1038/ng.188]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Tentler, D., Gustavsson, P., Elinder, G., Eklof, O., Gordon, L., Mandel, A., Dahl, N.
|
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<strong>A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome.</strong>
|
|
J. Med. Genet. 37: 128-131, 2000.
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[PubMed: 10662814]
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[Full Text: https://doi.org/10.1136/jmg.37.2.128]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Willig, T.-N., Draptchinskaia, N., Dianzani, I., Ball, S., Niemeyer, C., Ramenghi, U., Orfali, K., Gustavsson, P., Garelli, E., Brusco, A., Tiemann, C., Perignon, J. L., Bouchier, C., Cicchiello, L., Dahl, N., Mohandas, N., Tchernia, G.
|
|
<strong>Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression.</strong>
|
|
Blood 94: 4294-4306, 1999.
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[PubMed: 10590074]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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<div 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 : 11/27/2013<br>Cassandra L. Kniffin - updated : 3/11/2009<br>Patricia A. Hartz - updated : 12/31/2008<br>Ada Hamosh - updated : 10/24/2008<br>Cassandra L. Kniffin -updated : 6/15/2005<br>Victor A. McKusick - updated : 1/10/2005<br>Patricia A. Hartz - updated : 6/25/2004<br>Victor A. McKusick - updated : 9/4/2003<br>Victor A. McKusick - updated : 12/6/1999<br>Patti M. Sherman - updated : 3/30/1999
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</span>
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</div>
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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 : 2/2/1999
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</div>
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alopez : 10/17/2016<br>carol : 04/01/2015<br>joanna : 3/31/2015<br>carol : 12/2/2013<br>mcolton : 11/27/2013<br>wwang : 3/19/2009<br>ckniffin : 3/11/2009<br>mgross : 1/5/2009<br>mgross : 1/5/2009<br>terry : 12/31/2008<br>alopez : 11/10/2008<br>terry : 10/24/2008<br>carol : 6/23/2005<br>ckniffin : 6/15/2005<br>alopez : 2/15/2005<br>terry : 2/7/2005<br>wwang : 1/25/2005<br>terry : 1/10/2005<br>mgross : 7/1/2004<br>terry : 6/25/2004<br>cwells : 9/8/2003<br>terry : 9/4/2003<br>cwells : 8/10/2001<br>cwells : 8/2/2001<br>mgross : 12/10/1999<br>terry : 12/6/1999<br>psherman : 4/5/1999<br>carol : 4/2/1999<br>carol : 4/1/1999<br>alopez : 2/2/1999
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