IARS2

isoleucyl-tRNA synthetase 2, mitochondrial

Summary

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]

Known Variants441 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs200566584	1:220,267,248	A/T	—	likely benign
rs58943245	1:220,267,250	A/T	—	benign
rs1396427718	1:220,267,254	T/A	—	likely benign
rs547958478	1:220,267,431	T/A	—	likely benign
rs765948122	1:220,267,524	G/T	—	likely benign
rs755229056	1:220,267,559	A/C	—	conflicting classifications of pathogenicity
rs758280184	1:220,267,564	T/C	—	likely benign
rs777716260	1:220,267,574	C/T	—	uncertain significance
rs1251807135	1:220,267,576	C/T	—	likely benign
rs149324758	1:220,267,581	G/T	—	benign
rs575500514	1:220,267,583	G/A	—	uncertain significance
rs1162950334	1:220,267,588	G/A	—	likely benign
rs1656387942	1:220,267,590	G/T	—	uncertain significance
rs1043974359	1:220,267,591	C/T	—	likely benign
rs2577154	1:220,267,599	C/T	—	benign
rs773732328	1:220,267,613	C/T	—	likely pathogenic
rs753955998	1:220,267,626	G/A	—	uncertain significance
rs1252855167	1:220,267,632	C/T	—	uncertain significance
rs1483165466	1:220,267,636	C/T	—	likely benign
rs752456634	1:220,267,637	C/T	—	uncertain significance
rs1167991391	1:220,267,643	T/C	—	uncertain significance
rs1176713687	1:220,267,651	G/C	—	likely benign
rs2528481942	1:220,267,659	A/G	—	uncertain significance
rs116823205	1:220,267,669	G/C	—	benign
rs772530946	1:220,267,695	C/T	—	likely benign
rs1039302177	1:220,267,700	G/C	—	uncertain significance
rs761323544	1:220,267,711	C/G	—	likely benign
rs1389135965	1:220,267,715	C/T	—	uncertain significance
rs2528482147	1:220,267,719	A/T	—	uncertain significance
rs2528482297	1:220,267,766	A/G	—	uncertain significance
rs373788106	1:220,267,779	A/G	—	uncertain significance
rs950634242	1:220,267,780	G/A	—	likely benign
rs758523600	1:220,267,783	G/T	—	likely benign
rs764004253	1:220,267,786	G/C	—	likely benign
rs2102814284	1:220,267,827	T/A	—	likely pathogenic
rs117860947	1:220,267,830	G/C	—	likely benign
rs755614129	1:220,267,833	C/A	—	likely benign
rs779404016	1:220,267,835	C/G	—	likely benign
rs749018477	1:220,267,839	C/G	—	likely benign
rs201594568	1:220,269,438	T/A	—	likely benign
rs78836180	1:220,269,439	A/T	—	benign
rs1166672621	1:220,269,453	G/A	—	uncertain significance
rs1269625252	1:220,269,464	C/G	—	uncertain significance
rs1553267547	1:220,269,478	A/G	—	likely benign
rs2528486102	1:220,269,502	A/G	—	likely benign
rs897456214	1:220,269,529	T/G	—	pathogenic
rs1226346684	1:220,269,531	C/T	—	uncertain significance
rs1656435664	1:220,269,550	T/A	—	likely benign
rs1327371998	1:220,269,568	G/A	—	uncertain significance
rs35204279	1:220,269,575	A/G	—	likely benign
rs201829262	1:220,269,578	A/G	—	likely benign
rs1453073752	1:220,269,582	A/G	—	likely benign
rs78887187	1:220,269,800	C/T	—	benign
rs2289190	1:220,273,564	T/G	—	benign
rs112076704	1:220,273,719	G/T	—	likely benign
rs2102817615	1:220,273,827	T/C	—	likely benign
rs2102817625	1:220,273,847	G/A	—	uncertain significance
rs1263416901	1:220,273,858	C/G	—	uncertain significance
rs2528498564	1:220,273,876	C/T	—	likely benign
rs756654341	1:220,273,894	C/T	—	likely benign
rs780373797	1:220,273,895	G/A	—	uncertain significance
rs149036509	1:220,273,920	T/C	—	uncertain significance
rs2016769511	1:220,273,931	G/A	—	uncertain significance
rs1057521649	1:220,273,933	A/G	—	likely benign
rs141275528	1:220,273,956	C/G	—	conflicting classifications of pathogenicity
rs1370909726	1:220,273,967	T/G	—	uncertain significance
rs542012254	1:220,273,968	C/T	—	uncertain significance
rs1374893539	1:220,273,978	A/C	—	uncertain significance
rs374775700	1:220,273,997	T/A	—	uncertain significance
rs763779261	1:220,274,001	C/T	—	likely benign
rs750819484	1:220,274,002	T/G	—	likely benign
rs1257190565	1:220,274,004	T/C	—	likely benign
rs749811451	1:220,274,011	G/C	—	likely benign
rs181411611	1:220,275,166	T/C	—	likely benign
rs142081039	1:220,275,170	G/A	—	benign
rs60531981	1:220,275,174	C/G	—	benign
rs2789788	1:220,275,378	G/A	—	benign
rs775153600	1:220,275,454	T/C	—	likely benign
rs373464940	1:220,275,455	T/G	—	likely benign
rs751212940	1:220,275,456	T/C	—	likely benign
rs1249972725	1:220,275,457	C/T	—	likely benign
rs779751372	1:220,275,474	G/A	—	uncertain significance
rs201046842	1:220,275,475	A/T	—	uncertain significance
rs561155210	1:220,275,477	C/T	—	uncertain significance
rs148149998	1:220,275,490	A/C	—	likely benign
rs780849818	1:220,275,495	T/C	—	uncertain significance
rs2102818491	1:220,275,514	A/C	—	likely benign
rs1240451106	1:220,275,517	T/C	—	likely benign
rs768101579	1:220,275,521	C/T	—	uncertain significance
rs2528501756	1:220,275,523	T/C	—	likely benign
rs1656592046	1:220,275,535	G/T	—	uncertain significance
rs141996928	1:220,275,556	C/T	—	likely benign
rs988091643	1:220,275,574	G/T	—	uncertain significance
rs1656592916	1:220,275,597	C/A	—	uncertain significance
rs1571845061	1:220,275,600	T/C	—	pathogenic
rs1231019285	1:220,275,606	A/G	—	uncertain significance
rs1656593283	1:220,275,612	A/G	—	uncertain significance
rs751587007	1:220,275,613	T/A	—	uncertain significance
rs182226161	1:220,275,694	G/C	—	benign
rs187251505	1:220,275,697	T/C	—	benign

Showing 100 of 441 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.