AARS1

alanyl-tRNA synthetase 1

Summary

The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]

Known Variants1,167 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14183780516:70,286,300C/T—uncertain significance
rs11655352116:70,286,373T/G—likely benign
rs15062519416:70,286,411G/A—likely benign
rs55422179316:70,286,455G/C—uncertain significance
rs57670700616:70,286,483T/C—benign
rs55588350216:70,286,493C/T—uncertain significance
rs1153766316:70,286,550T/A—benign
rs77186842516:70,286,592A/G—uncertain significance
rs117344496016:70,286,625C/G—uncertain significance
rs76224181016:70,286,630C/G—uncertain significance
rs3574470916:70,286,631T/A—likely benign
rs95389028116:70,286,641C/T—uncertain significance
rs7503366316:70,286,642G/A—likely benign
rs75668119916:70,286,647G/A—uncertain significance
rs250698651016:70,286,649A/G—uncertain significance
rs77950910016:70,286,651C/G—uncertain significance
rs195987213616:70,286,652T/G—uncertain significance
rs155553915716:70,286,658A/G—likely pathogenic
rs14654055116:70,286,661G/C—uncertain significance
rs250698656116:70,286,663A/C—likely benign
rs74783338816:70,286,664G/A—uncertain significance
rs250698657616:70,286,668C/G—uncertain significance
rs250698658116:70,286,670A/T—uncertain significance
rs195987278516:70,286,671G/A—likely benign
rs117158036616:70,286,672C/G—uncertain significance
rs97158893716:70,286,678C/T—likely benign
rs120558855416:70,286,682T/A—uncertain significance
rs37526351516:70,286,686G/C—uncertain significance
rs155553916216:70,286,690G/A—likely benign
rs195987355516:70,286,693G/A—likely benign
rs74690817816:70,286,694C/A—uncertain significance
rs119228685316:70,286,696A/G—likely benign
rs116229642016:70,286,709G/A—uncertain significance
rs195987440916:70,286,712G/A—uncertain significance
rs250698669516:70,286,713C/A—uncertain significance
rs14004858616:70,286,714C/A—uncertain significance
rs250698671016:70,286,717T/G—likely benign
rs250698671916:70,286,720A/G—likely benign
rs14937734616:70,286,740C/T—likely benign
rs75082719216:70,286,746C/G—uncertain significance
rs159743204516:70,286,755A/G—likely benign
rs76689779616:70,286,761A/C—conflicting classifications of pathogenicity
rs215214941516:70,286,766T/A—uncertain significance
rs195987620216:70,286,774C/T—uncertain significance
rs75452345616:70,286,777C/T—likely benign
rs77834233516:70,286,779C/T—uncertain significance
rs18307668016:70,286,780G/A—likely benign
rs215214942716:70,286,782T/G—uncertain significance
rs250698687116:70,286,783G/A—likely benign
rs36977447616:70,286,793C/T—conflicting classifications of pathogenicity
rs250698691416:70,286,795C/A—likely benign
rs77768611916:70,286,796C/T—uncertain significance
rs74682233016:70,286,799T/C—conflicting classifications of pathogenicity
rs19983966316:70,286,801G/A—likely benign
rs121809215916:70,286,803C/T—uncertain significance
rs215214944916:70,286,807A/T—uncertain significance
rs127312157516:70,286,811T/A—uncertain significance
rs215214945516:70,286,816G/A—likely benign
rs78127735716:70,286,821G/A—likely benign
rs37354004916:70,286,825G/A—likely benign
rs130240539316:70,286,829G/C—likely benign
rs215214966716:70,287,154T/A—likely benign
rs37732517516:70,287,156C/A—likely benign
rs36905560916:70,287,157G/C—likely benign
rs77343011716:70,287,159G/A—likely benign
rs57795834916:70,287,163G/A—likely benign
rs131803245616:70,287,168G/C—uncertain significance
rs54502633216:70,287,172T/C—uncertain significance
rs77689704016:70,287,176G/C—likely benign
rs408175316:70,287,177A/T—likely benign
rs250698792816:70,287,179C/A—uncertain significance
rs155553924116:70,287,180T/C—likely benign
rs121469419316:70,287,186C/T—likely benign
rs215214970616:70,287,190C/T—pathogenic
rs14081446216:70,287,192C/T—likely benign
rs250698796316:70,287,198C/A—uncertain significance
rs129585167116:70,287,206C/T—uncertain significance
rs77502407016:70,287,211T/C—conflicting classifications of pathogenicity
rs78620585116:70,287,215C/T—uncertain significance
rs76255625116:70,287,219C/T—conflicting classifications of pathogenicity
rs76377959116:70,287,220G/A—uncertain significance
rs75124215416:70,287,227G/A—uncertain significance
rs75703923916:70,287,228C/T—uncertain significance
rs215214973016:70,287,230T/G—uncertain significance
rs250698805116:70,287,239T/C—uncertain significance
rs75603150216:70,287,249G/C—uncertain significance
rs159743240916:70,287,250T/C—uncertain significance
rs15014451416:70,287,251G/A—uncertain significance
rs141885019116:70,287,254T/C—uncertain significance
rs215214975216:70,287,262A/G—uncertain significance
rs195989320816:70,287,263G/C—uncertain significance
rs75848831816:70,287,264C/G—uncertain significance
rs159743242816:70,287,270G/A—likely benign
rs215214976416:70,287,280A/G—uncertain significance
rs77788992816:70,287,281G/A—likely benign
rs20096552716:70,287,290G/T—likely benign
rs250698818016:70,287,295G/C—likely benign
rs195989451216:70,287,298C/T—likely benign
rs37116324716:70,287,300G/C—likely benign
rs95570296916:70,287,301G/A—likely benign

Showing 100 of 1,167 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.