IARS1

isoleucyl-tRNA synthetase 1

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. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]

Known Variants320 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1371725475	9:94,973,103	T/C	—	uncertain significance
rs144102700	9:94,973,151	C/T	—	benign
rs751404195	9:94,973,158	G/A	—	likely benign
rs76635897	9:94,973,165	G/A	—	likely benign
rs367648919	9:94,973,175	G/T	—	uncertain significance
rs777429198	9:94,973,178	T/C	—	likely benign
rs535248137	9:94,973,187	A/G	—	likely benign
rs183143844	9:94,978,204	C/T	intron variant	—
rs566309745	9:94,984,784	G/A	—	likely benign
rs371363717	9:94,984,794	C/T	—	likely benign
rs763687468	9:94,984,806	C/T	—	likely benign
rs757811684	9:94,984,815	C/G	—	uncertain significance
rs1839822983	9:94,984,820	T/C	—	uncertain significance
rs750903982	9:94,984,823	G/C	—	uncertain significance
rs527510549	9:94,984,827	C/T	—	likely benign
rs768914088	9:94,984,840	C/T	—	uncertain significance
rs781217388	9:94,984,841	T/G	—	likely benign
rs769885414	9:94,984,846	C/T	—	uncertain significance
rs368874334	9:94,984,850	G/A	—	uncertain significance
rs1365986840	9:94,984,875	C/T	—	likely benign
rs139343089	9:94,984,896	T/C	—	benign
rs552419753	9:94,984,930	G/A	—	uncertain significance
rs202153931	9:94,984,937	C/T	—	uncertain significance
rs201071417	9:94,984,945	A/G	—	uncertain significance
rs781351325	9:94,984,957	G/A	—	uncertain significance
rs370770912	9:94,984,963	G/C	—	likely benign
rs2490127977	9:94,985,627	C/T	—	likely pathogenic
rs556155	9:94,985,637	C/T	—	benign
rs886037873	9:94,985,660	A/T	missense variant	pathogenic
rs774780514	9:94,985,707	C/T	—	likely benign
rs141665010	9:94,985,724	A/G	—	uncertain significance
rs754117047	9:94,985,743	A/G	—	likely benign
rs2490131351	9:94,985,757	T/G	—	uncertain significance
rs751540743	9:94,985,774	A/G	—	likely benign
rs146003002	9:94,991,303	G/C	—	uncertain significance
rs1039178760	9:94,991,346	T/G	—	uncertain significance
rs2490217210	9:94,991,378	C/G	—	uncertain significance
rs1360035148	9:94,991,390	T/C	—	uncertain significance
rs753714072	9:94,991,411	A/G	—	uncertain significance
rs145506083	9:94,995,282	C/A	intron variant	—
rs1018334318	9:95,003,155	G/A	—	uncertain significance
rs779411972	9:95,003,156	C/A	—	uncertain significance
rs139191387	9:95,003,185	G/A	—	uncertain significance
rs1384587217	9:95,003,217	T/C	—	likely benign
rs776570033	9:95,003,231	C/T	—	uncertain significance
rs1828304059	9:95,003,241	C/T	—	likely benign
rs41280213	9:95,004,421	G/C	—	benign
rs1828515674	9:95,004,428	G/A	—	likely benign
rs755707005	9:95,004,454	A/G	—	likely benign
rs200476416	9:95,004,467	G/A	—	uncertain significance
rs34737051	9:95,004,477	C/T	—	likely benign
rs1828530603	9:95,004,494	G/A	—	uncertain significance
rs1587768025	9:95,004,508	G/A	—	likely benign
rs201773352	9:95,004,522	C/G	—	likely benign
rs199947184	9:95,004,534	C/T	—	uncertain significance
rs2490366517	9:95,004,540	C/T	—	uncertain significance
rs2490366629	9:95,004,544	A/G	—	likely benign
rs147719645	9:95,004,574	A/G	—	likely benign
rs755039797	9:95,004,608	T/C	—	uncertain significance
rs533157314	9:95,004,631	A/C	—	likely benign
rs1587771036	9:95,005,490	A/G	—	likely benign
rs142582728	9:95,005,516	T/C	—	uncertain significance
rs886037877	9:95,005,524	T/C	missense variant	pathogenic
rs2230405	9:95,005,537	A/C	—	benign
rs1828715424	9:95,005,559	G/C	—	pathogenic
rs192344369	9:95,005,607	C/G	—	likely benign
rs2490399547	9:95,007,249	C/A	—	uncertain significance
rs747724905	9:95,007,252	A/G	—	uncertain significance
rs1828968710	9:95,007,265	T/C	—	likely benign
rs139380974	9:95,007,268	C/T	—	likely benign
rs746428880	9:95,007,284	G/C	—	uncertain significance
rs1235863516	9:95,007,285	C/A	—	uncertain significance
rs1347752502	9:95,007,296	G/A	—	uncertain significance
rs150301572	9:95,007,298	G/A	—	likely benign
rs761930668	9:95,007,304	G/A	—	likely benign
rs375942375	9:95,007,308	C/T	—	uncertain significance
rs751538626	9:95,007,309	G/A	—	uncertain significance
rs754983943	9:95,007,313	G/A	—	likely benign
rs137864896	9:95,007,322	G/A	—	likely benign
rs993445177	9:95,007,323	T/C	—	uncertain significance
rs1828986279	9:95,007,336	C/G	—	uncertain significance
rs777337953	9:95,007,339	C/T	—	uncertain significance
rs748953202	9:95,007,356	A/G	—	benign
rs1828989064	9:95,007,358	G/A	—	likely benign
rs760459809	9:95,009,667	T/C	—	uncertain significance
rs904012202	9:95,009,691	C/G	—	uncertain significance
rs1231537024	9:95,009,698	G/A	—	pathogenic
rs753480473	9:95,009,704	T/C	—	uncertain significance
rs75415996	9:95,009,708	C/T	—	likely benign
rs77245714	9:95,009,709	G/A	—	likely benign
rs747531283	9:95,009,727	G/T	—	uncertain significance
rs145983857	9:95,009,731	C/T	—	uncertain significance
rs190575779	9:95,009,739	C/T	—	uncertain significance
rs2490428530	9:95,009,746	C/G	—	uncertain significance
rs369618278	9:95,009,749	G/A	—	likely benign
rs141783555	9:95,009,778	C/T	—	uncertain significance
rs2230404	9:95,009,786	A/G	—	benign
rs777991533	9:95,009,825	A/G	—	likely benign
rs562384872	9:95,009,852	A/G	—	likely benign
rs778064736	9:95,012,133	A/G	—	likely benign

Showing 100 of 320 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.