2261 lines
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Entry
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- *590030 - TRANSFER RNA, MITOCHONDRIAL, GLUTAMINE; MTTQ
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- OMIM
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<p>
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<span class="h4">*590030</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/590030">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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000210107;t=-" 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://mitomap.org/bin/view.pl/Main/SearchSite?search=MT-TQ" class="mim-tip-hint" title="A curated repository of published and unpublished data on human mitochondrial DNA variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MITOMAP', 'domain': 'mitomap.org'})">MITOMAP</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=4572" 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=590030" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000210107;t=-" 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</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=590030" 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 class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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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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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div><a href="https://www.proteinatlas.org/search/MT-TQ" 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 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><a href="http://biogps.org/#goto=genereport&id=4572" 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=ENSG00000210107;t=-" 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=MT-TQ" 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=MT-TQ" 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+4572" 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/MT-TQ" 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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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4572" 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 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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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:7495" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=590030[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 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=590030[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000210107" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=MT-TQ" 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=MT-TQ" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MT-TQ&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/PA31298" 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 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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</a>
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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:7495" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:102477" 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/MT-TQ#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:102477" 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/4572/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=4572" 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 class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<div style="display: table-cell;">Cellular Pathways</div>
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</a>
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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:4572" 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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<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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 129565002, 39925003<br />
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<strong>ICD10CM:</strong> E88.41, G72.9, M60-M63, M62.9<br />
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<strong>ICD9CM:</strong> 359.9<br />
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">ICD+</a>
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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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590030
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</span>
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</span>
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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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TRANSFER RNA, MITOCHONDRIAL, GLUTAMINE; MTTQ
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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tRNA-GLN, MITOCHONDRIAL
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<br />
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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=MT-TQ" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MT-TQ</a></em></strong>
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</p>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The mitochondrial tRNA for glutamine is encoded by nucleotides 4329-4400.</p>
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</span>
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<div>
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<br />
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</div>
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<a id="allelicVariants" class="mim-anchor"></a>
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<h4>
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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</span>
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<strong>3 Selected Examples</a>):</strong>
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</span>
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</h4>
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<div>
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<a href="/allelicVariants/590030" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=590030[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p />
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<a id="0001" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0001 MYOPATHY</strong>
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</h4>
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<span class="mim-text-font">
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<div style="float: left;">
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MTTQ, 1-BP INS, 4366A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs199476140 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199476140;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=rs199476140" 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=rs199476140" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010238" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010238" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010238</a>
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</span>
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<p><a href="#2" class="mim-tip-reference" title="Dey, R., Tengan, C. H., Morita, M. P. A., Kiyomoto, B. H., Moraes, C. T. <strong>A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(gln) anticodon loop.</strong> Neuromusc. Disord. 10: 488-492, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10996779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10996779</a>] [<a href="https://doi.org/10.1016/s0960-8966(00)00125-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10996779">Dey et al. (2000)</a> reported a novel mitochondrial DNA alteration in a 12-year-old boy with myopathy. They demonstrated a single nucleotide insertion (an adenine) in a polyadenine stretch at mitochondrial DNA positions 4366-4369 in the MTTQ gene. This altered the length of the evolutionarily conserved anticodon loop from 7 to 8 bases. The insertion was heteroplasmic and was abundant in the patient's muscle. Lower proportions of mutated mitochondrial DNA were observed in skin fibroblasts, but were below detectable levels in white blood cells. A muscle biopsy of the patient showed ragged-red fibers and an unusually high percentage of cytochrome c oxidase-deficient fibers (89%). The pathogenicity of the mutation was also evidenced by the fact that fibers harboring lower levels of the mutation showed normal cytochrome c oxidase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10996779" 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>
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<br />
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<a id="0002" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0002 SENSORINEURAL DEAFNESS AND MIGRAINE</strong>
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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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<div style="float: left;">
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MTTQ, 4336A-G
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs41456348 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41456348;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=rs41456348" 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=rs41456348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010239 OR RCV000224964 OR RCV000850736 OR RCV001288305 OR RCV004691091" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010239, RCV000224964, RCV000850736, RCV001288305, RCV004691091" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010239...</a>
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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><a href="#3" class="mim-tip-reference" title="Finnila, S., Autere, J., Lehtovirta, M., Hartikainen, P., Mannermaa, A., Soininen, H., Majamaa, K. <strong>Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A-G in tRNA(gln). (Letter)</strong> J. Med. Genet. 38: 400-405, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11424923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11424923</a>] [<a href="https://doi.org/10.1136/jmg.38.6.400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11424923">Finnila et al. (2001)</a> analyzed 1 group including 480 controls and 575 patients with diseases manifesting in middle life, including diabetes, epilepsy, sensorineural hearing loss, occipital stroke, and migraine, and a second group including 497 patients with Alzheimer disease, non-Alzheimer dementia, or Parkinson disease. The 4336A-G transition was found in 8 patients and 3 controls in group 1, this being most frequent among patients with sensorineural hearing impairment and migraine. Five patients in group 2, but none of the controls, also had the 4336A-G transition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11424923" 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>
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<br />
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<strong>.0003 MELAS SYNDROME</strong>
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</h4>
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MTTQ, 4332G-A
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs199476141 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199476141;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=rs199476141" 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=rs199476141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010240 OR RCV003162235 OR RCV004799663" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010240, RCV003162235, RCV004799663" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010240...</a>
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</span>
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<p><a href="#1" class="mim-tip-reference" title="Bataillard, M., Chatzoglou, E., Rumbach, L., Sternberg, D., Tournade, A., Laforet, P., Jardel, C., Maisonobe, T., Lombes, A. <strong>Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation.</strong> Neurology 56: 405-407, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11171912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11171912</a>] [<a href="https://doi.org/10.1212/wnl.56.3.405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11171912">Bataillard et al. (2001)</a> reported an atypical case of MELAS syndrome (<a href="/entry/540000">540000</a>) associated with a 4332G-A mutation in the MTTQ gene. The patient was a 47-year-old male with sensorineural deafness since age 20 years, who presented with an acute stroke in the absence of cardiovascular disease. Although late onset and some neuroradiographic findings were atypical for MELAS, there were extensive basal ganglia calcifications and muscle COX activity was decreased with severely deficient fibers. The 4332G-A mutation was present in 81% of the patient's mtDNA muscle molecules, and absent from his mtDNA blood and skin cells. The mutation was not found in mtDNA blood cells from his mother and brother or in 300 controls. The authors emphasized the genetic heterogeneity of the MELAS syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11171912" 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="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<li>
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<a id="1" class="mim-anchor"></a>
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<a id="Bataillard2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Bataillard, M., Chatzoglou, E., Rumbach, L., Sternberg, D., Tournade, A., Laforet, P., Jardel, C., Maisonobe, T., Lombes, A.
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<strong>Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation.</strong>
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Neurology 56: 405-407, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11171912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11171912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11171912" 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/10.1212/wnl.56.3.405" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Dey2000" class="mim-anchor"></a>
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<div class="">
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Dey, R., Tengan, C. H., Morita, M. P. A., Kiyomoto, B. H., Moraes, C. T.
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<strong>A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(gln) anticodon loop.</strong>
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Neuromusc. Disord. 10: 488-492, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10996779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10996779</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10996779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0960-8966(00)00125-5" target="_blank">Full Text</a>]
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</p>
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<a id="3" class="mim-anchor"></a>
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<a id="Finnila2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Finnila, S., Autere, J., Lehtovirta, M., Hartikainen, P., Mannermaa, A., Soininen, H., Majamaa, K.
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<strong>Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A-G in tRNA(gln). (Letter)</strong>
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J. Med. Genet. 38: 400-405, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11424923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11424923</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11424923" 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.38.6.400" target="_blank">Full Text</a>]
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</p>
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</li>
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</ol>
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<br />
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="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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Cassandra L. Kniffin - updated : 8/15/2002
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Michael J. Wright - updated : 7/26/2002<br>Victor A. McKusick - updated : 1/10/2001
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<a id="creationDate" class="mim-anchor"></a>
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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 : 3/2/1993
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/23/2002
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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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ckniffin : 8/15/2002<br>tkritzer : 8/2/2002<br>tkritzer : 8/1/2002<br>terry : 7/26/2002<br>cwells : 1/17/2001<br>cwells : 1/17/2001<br>terry : 1/10/2001<br>carol : 5/26/1993<br>carol : 5/17/1993<br>carol : 3/2/1993
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<h3>
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<span class="mim-font">
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<strong>*</strong> 590030
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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TRANSFER RNA, MITOCHONDRIAL, GLUTAMINE; MTTQ
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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-font">
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<em>Alternative titles; symbols</em>
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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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tRNA-GLN, MITOCHONDRIAL
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MT-TQ</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 129565002, 39925003;
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<strong>ICD10CM:</strong> E88.41, G72.9, M60-M63, M62.9;
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<strong>ICD9CM:</strong> 359.9;
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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<span class="mim-text-font">
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<p>The mitochondrial tRNA for glutamine is encoded by nucleotides 4329-4400.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>3 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 MYOPATHY</strong>
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</span>
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</h4>
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<div>
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<span class="mim-text-font">
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MTTQ, 1-BP INS, 4366A
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<br />
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SNP: rs199476140,
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ClinVar: RCV000010238
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<div>
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<span class="mim-text-font">
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<p>Dey et al. (2000) reported a novel mitochondrial DNA alteration in a 12-year-old boy with myopathy. They demonstrated a single nucleotide insertion (an adenine) in a polyadenine stretch at mitochondrial DNA positions 4366-4369 in the MTTQ gene. This altered the length of the evolutionarily conserved anticodon loop from 7 to 8 bases. The insertion was heteroplasmic and was abundant in the patient's muscle. Lower proportions of mutated mitochondrial DNA were observed in skin fibroblasts, but were below detectable levels in white blood cells. A muscle biopsy of the patient showed ragged-red fibers and an unusually high percentage of cytochrome c oxidase-deficient fibers (89%). The pathogenicity of the mutation was also evidenced by the fact that fibers harboring lower levels of the mutation showed normal cytochrome c oxidase activity. </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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<h4>
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<span class="mim-font">
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<strong>.0002 SENSORINEURAL DEAFNESS AND MIGRAINE</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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MTTQ, 4336A-G
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<br />
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SNP: rs41456348,
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ClinVar: RCV000010239, RCV000224964, RCV000850736, RCV001288305, RCV004691091
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<span class="mim-text-font">
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<p>Finnila et al. (2001) analyzed 1 group including 480 controls and 575 patients with diseases manifesting in middle life, including diabetes, epilepsy, sensorineural hearing loss, occipital stroke, and migraine, and a second group including 497 patients with Alzheimer disease, non-Alzheimer dementia, or Parkinson disease. The 4336A-G transition was found in 8 patients and 3 controls in group 1, this being most frequent among patients with sensorineural hearing impairment and migraine. Five patients in group 2, but none of the controls, also had the 4336A-G transition. </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>.0003 MELAS SYNDROME</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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MTTQ, 4332G-A
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<br />
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SNP: rs199476141,
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ClinVar: RCV000010240, RCV003162235, RCV004799663
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</span>
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<div>
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<span class="mim-text-font">
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<p>Bataillard et al. (2001) reported an atypical case of MELAS syndrome (540000) associated with a 4332G-A mutation in the MTTQ gene. The patient was a 47-year-old male with sensorineural deafness since age 20 years, who presented with an acute stroke in the absence of cardiovascular disease. Although late onset and some neuroradiographic findings were atypical for MELAS, there were extensive basal ganglia calcifications and muscle COX activity was decreased with severely deficient fibers. The 4332G-A mutation was present in 81% of the patient's mtDNA muscle molecules, and absent from his mtDNA blood and skin cells. The mutation was not found in mtDNA blood cells from his mother and brother or in 300 controls. The authors emphasized the genetic heterogeneity of the MELAS syndrome. </p>
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<strong>REFERENCES</strong>
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Bataillard, M., Chatzoglou, E., Rumbach, L., Sternberg, D., Tournade, A., Laforet, P., Jardel, C., Maisonobe, T., Lombes, A.
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<strong>Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation.</strong>
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Neurology 56: 405-407, 2001.
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[PubMed: 11171912]
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[Full Text: https://doi.org/10.1212/wnl.56.3.405]
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Dey, R., Tengan, C. H., Morita, M. P. A., Kiyomoto, B. H., Moraes, C. T.
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<strong>A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(gln) anticodon loop.</strong>
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Neuromusc. Disord. 10: 488-492, 2000.
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[PubMed: 10996779]
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[Full Text: https://doi.org/10.1016/s0960-8966(00)00125-5]
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Finnila, S., Autere, J., Lehtovirta, M., Hartikainen, P., Mannermaa, A., Soininen, H., Majamaa, K.
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<strong>Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A-G in tRNA(gln). (Letter)</strong>
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J. Med. Genet. 38: 400-405, 2001.
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[PubMed: 11424923]
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[Full Text: https://doi.org/10.1136/jmg.38.6.400]
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Cassandra L. Kniffin - updated : 8/15/2002<br>Michael J. Wright - updated : 7/26/2002<br>Victor A. McKusick - updated : 1/10/2001
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Victor A. McKusick : 3/2/1993
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