TRMU

tRNA mitochondrial 2-thiouridylase

Summary

This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Known Variants564 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs146471363	22:46,730,338	C/G	downstream gene variant	—
rs9615953	22:46,731,024	C/G	—	benign
rs148817908	22:46,731,029	C/A	—	likely benign
rs73889250	22:46,731,191	T/C	—	benign
rs143463292	22:46,731,350	G/A	—	uncertain significance
rs148373924	22:46,731,381	G/A	—	uncertain significance
rs187162795	22:46,731,383	G/A	—	uncertain significance
rs538113553	22:46,731,472	A/T	—	uncertain significance
rs114587018	22:46,731,484	G/A	—	likely benign
rs886057607	22:46,731,501	A/C	—	uncertain significance
rs886057608	22:46,731,511	G/A	—	uncertain significance
rs190351151	22:46,731,515	C/A	—	uncertain significance
rs141601555	22:46,731,534	A/G	—	likely benign
rs116519615	22:46,731,545	G/C	—	likely benign
rs182529223	22:46,731,549	G/C	—	uncertain significance
rs184994382	22:46,731,575	T/C	—	conflicting classifications of pathogenicity
rs773460571	22:46,731,611	A/C	—	likely benign
rs370964036	22:46,731,618	G/A	—	likely benign
rs560661382	22:46,731,626	C/G	—	likely benign
rs775079522	22:46,731,627	G/A	—	uncertain significance
rs898267377	22:46,731,636	A/C	—	likely benign
rs995131564	22:46,731,637	G/A	—	likely benign
rs886057609	22:46,731,643	G/C	—	conflicting classifications of pathogenicity
rs764076380	22:46,731,647	T/C	—	conflicting classifications of pathogenicity
rs1406614136	22:46,731,653	G/A	—	uncertain significance
rs118203992	22:46,731,663	T/A	missense variant	pathogenic
rs1464059546	22:46,731,665	C/T	—	pathogenic
rs758055404	22:46,731,667	G/A	—	likely benign
rs75417986	22:46,731,670	C/T	—	likely benign
rs114302881	22:46,731,671	T/G	—	likely benign
rs1353951169	22:46,731,672	T/C	—	uncertain significance
rs568649964	22:46,731,675	G/C	—	uncertain significance
rs999326883	22:46,731,678	A/G	—	uncertain significance
rs527315924	22:46,731,679	C/T	—	conflicting classifications of pathogenicity
rs547049690	22:46,731,682	C/T	—	likely benign
rs1407341301	22:46,731,685	G/T	—	likely benign
rs1297282365	22:46,731,688	C/A	—	pathogenic
rs11090865	22:46,731,689	G/T	missense variant	risk factor
rs776692221	22:46,731,691	C/T	—	conflicting classifications of pathogenicity
rs2147846193	22:46,731,694	G/A	—	likely benign
rs764802781	22:46,731,697	C/T	—	likely benign
rs762544346	22:46,731,700	C/G	—	likely benign
rs751248771	22:46,731,701	G/A	—	uncertain significance
rs755309787	22:46,731,703	C/G	—	likely benign
rs1447716712	22:46,731,709	C/T	—	likely benign
rs2077956537	22:46,731,712	C/T	—	likely benign
rs1304330534	22:46,731,715	C/G	—	likely benign
rs1188059840	22:46,731,721	C/A	—	likely benign
rs2077957097	22:46,731,724	G/C	—	likely benign
rs2147846414	22:46,731,728	C/T	—	likely benign
rs781594419	22:46,731,730	G/T	—	likely benign
rs1569057032	22:46,731,735	G/A	—	uncertain significance
rs2272938	22:46,731,736	G/T	—	benign
rs1167225464	22:46,731,740	A/C	—	likely benign
rs374095722	22:46,731,746	G/A	—	uncertain significance
rs771076163	22:46,731,748	G/A	—	uncertain significance
rs1601929107	22:46,731,751	G/A	—	likely benign
rs2147846554	22:46,731,752	T/C	—	likely benign
rs779246852	22:46,731,753	C/T	—	likely benign
rs1384397222	22:46,731,755	G/A	—	likely benign
rs1311208624	22:46,731,757	G/A	—	likely benign
rs746143101	22:46,731,758	G/A	—	likely benign
rs2077958614	22:46,731,761	C/G	—	likely benign
rs1270223651	22:46,731,763	C/T	—	likely benign
rs569915020	22:46,731,769	C/G	—	likely benign
rs11090866	22:46,731,771	G/C	—	benign
rs2272937	22:46,731,791	G/A	—	benign
rs112433524	22:46,731,873	T/C	—	benign
rs116832601	22:46,731,974	C/T	—	benign
rs114880598	22:46,731,987	A/G	—	benign
rs7290233	22:46,733,657	T/A	—	likely benign
rs951945177	22:46,733,658	T/G	—	likely benign
rs200886871	22:46,733,659	G/C	—	likely benign
rs1006432829	22:46,733,661	C/A	—	likely benign
rs1057523042	22:46,733,665	C/A	—	likely benign
rs2078016326	22:46,733,666	C/G	—	likely benign
rs374612111	22:46,733,667	C/T	—	likely benign
rs2147852866	22:46,733,668	G/A	—	likely benign
rs758628820	22:46,733,671	C/T	—	likely benign
rs369925943	22:46,733,672	G/A	—	conflicting classifications of pathogenicity
rs747853875	22:46,733,674	A/G	—	likely pathogenic
rs769668643	22:46,733,680	C/G	—	pathogenic
rs2147852935	22:46,733,689	A/G	—	likely benign
rs2078017116	22:46,733,691	G/A	—	uncertain significance
rs1569060096	22:46,733,692	G/A	—	conflicting classifications of pathogenicity
rs1426898716	22:46,733,695	G/A	—	conflicting classifications of pathogenicity
rs772997268	22:46,733,698	T/C	—	likely benign
rs1174791046	22:46,733,710	G/A	—	pathogenic
rs863224240	22:46,733,711	G/C	—	uncertain significance
rs2078018011	22:46,733,716	A/G	—	likely benign
rs749302637	22:46,733,717	C/A	—	uncertain significance
rs2518131682	22:46,733,734	C/G	—	likely benign
rs759057581	22:46,733,739	C/T	—	uncertain significance
rs150076605	22:46,733,743	C/T	—	likely benign
rs754287313	22:46,733,762	G/T	—	uncertain significance
rs138382860	22:46,733,765	T/C	—	uncertain significance
rs2078020035	22:46,733,768	A/G	—	uncertain significance
rs747301946	22:46,733,775	G/T	—	uncertain significance
rs2518132021	22:46,733,777	C/T	—	pathogenic
rs2078020437	22:46,733,779	G/A	—	likely benign

Showing 100 of 564 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.