ALDH4A1

aldehyde dehydrogenase 4 family member A1

Summary

This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]

Known Variants286 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1138333	1:19,198,064	T/G	—	benign
rs1138328	1:19,198,100	C/G	—	benign
rs886045701	1:19,198,140	T/G	—	uncertain significance
rs7366541	1:19,198,141	T/C	—	benign
rs7419135	1:19,198,142	G/C	—	uncertain significance
rs956296596	1:19,198,157	C/G	—	uncertain significance
rs115664776	1:19,198,166	G/A	—	uncertain significance
rs886045702	1:19,198,187	C/A	—	uncertain significance
rs1371841928	1:19,198,298	C/T	—	uncertain significance
rs76525996	1:19,198,299	G/A	—	uncertain significance
rs886045703	1:19,198,395	G/A	—	uncertain significance
rs1140477	1:19,198,414	G/A	—	benign
rs1138269	1:19,198,418	C/T	—	benign
rs148846466	1:19,198,436	G/A	—	likely benign
rs796989099	1:19,198,439	C/G	—	uncertain significance
rs1034579513	1:19,198,563	G/A	—	uncertain significance
rs1138267	1:19,198,576	A/G	—	benign
rs778905588	1:19,198,620	G/A	—	uncertain significance
rs14311	1:19,198,627	A/G	—	benign
rs543972561	1:19,198,628	G/C	—	uncertain significance
rs3202002	1:19,198,637	G/A	—	benign
rs886045704	1:19,198,649	C/T	—	uncertain significance
rs567528405	1:19,198,693	C/T	—	uncertain significance
rs1802783	1:19,198,837	T/C	—	benign
rs536186688	1:19,198,875	C/T	—	uncertain significance
rs9117	1:19,198,895	A/G	—	benign
rs142571888	1:19,198,972	G/A	—	uncertain significance
rs41273171	1:19,199,067	G/A	—	uncertain significance
rs553318512	1:19,199,116	C/T	—	uncertain significance
rs886045705	1:19,199,129	G/T	—	uncertain significance
rs11484737	1:19,199,150	C/T	—	uncertain significance
rs2230712	1:19,199,217	A/G	—	uncertain significance
rs11740	1:19,199,221	T/C	—	benign
rs2230710	1:19,199,304	A/G	—	likely benign
rs377545652	1:19,199,320	G/A	—	uncertain significance
rs370813324	1:19,199,329	C/A	—	likely benign
rs138534161	1:19,199,330	G/A	—	uncertain significance
rs528211463	1:19,199,350	A/T	—	uncertain significance
rs776207072	1:19,199,353	C/T	—	uncertain significance
rs531113108	1:19,199,354	G/A	—	likely benign
rs2522522901	1:19,199,357	G/A	—	likely benign
rs202214117	1:19,199,381	T/C	—	likely benign
rs2522523269	1:19,199,390	G/A	—	likely benign
rs759926379	1:19,199,399	C/T	—	uncertain significance
rs72953172	1:19,199,400	G/A	—	likely benign
rs771061582	1:19,199,406	G/A	—	uncertain significance
rs1934507704	1:19,199,407	T/C	—	uncertain significance
rs576534785	1:19,199,413	G/A	—	uncertain significance
rs1414945851	1:19,199,429	G/A	—	likely benign
rs61757683	1:19,199,448	T/G	—	conflicting classifications of pathogenicity
rs777379037	1:19,199,456	G/A	—	uncertain significance
rs28700162	1:19,199,473	T/A	—	benign
rs28529092	1:19,200,908	G/C	—	benign
rs367612554	1:19,200,946	G/A	—	likely benign
rs757032042	1:19,200,965	C/T	—	uncertain significance
rs1401401607	1:19,200,973	C/G	—	likely benign
rs2522530684	1:19,200,985	C/T	—	likely benign
rs61749348	1:19,200,988	G/A	—	benign
rs773884295	1:19,200,989	C/T	—	uncertain significance
rs760227262	1:19,201,007	G/C	—	uncertain significance
rs757085430	1:19,201,015	G/A	—	likely benign
rs959859902	1:19,201,031	C/T	—	conflicting classifications of pathogenicity
rs766982473	1:19,201,032	C/T	—	uncertain significance
rs376695697	1:19,201,033	G/A	—	likely benign
rs780190351	1:19,201,048	C/T	—	likely benign
rs1347978946	1:19,201,057	G/A	—	likely benign
rs199624169	1:19,201,068	C/A	—	uncertain significance
rs377587520	1:19,201,069	G/C	—	likely benign
rs369003574	1:19,201,072	G/A	—	likely benign
rs2100551089	1:19,201,087	A/G	—	likely benign
rs6665917	1:19,201,184	C/G	—	benign
rs761460524	1:19,201,860	C/G	—	likely benign
rs371777923	1:19,201,861	G/A	—	conflicting classifications of pathogenicity
rs762708368	1:19,201,897	C/T	—	uncertain significance
rs2100553228	1:19,201,901	T/A	—	uncertain significance
rs6695033	1:19,201,919	T/C	—	benign
rs2230709	1:19,201,928	T/C	—	benign
rs747718272	1:19,201,946	T/C	—	uncertain significance
rs150762865	1:19,201,951	T/G	—	likely benign
rs377270740	1:19,201,955	C/T	—	uncertain significance
rs2230708	1:19,201,956	A/G	—	benign
rs146222625	1:19,201,959	C/G	—	conflicting classifications of pathogenicity
rs756299719	1:19,201,960	G/A	—	uncertain significance
rs199828375	1:19,201,967	C/T	—	uncertain significance
rs757444298	1:19,201,968	G/A	—	likely benign
rs1156594126	1:19,201,988	C/T	—	uncertain significance
rs200384496	1:19,201,989	G/A	—	likely benign
rs372508847	1:19,202,009	G/A	—	likely benign
rs7550822	1:19,202,770	T/C	—	benign
rs781543954	1:19,202,790	G/A	—	likely benign
rs2100555545	1:19,202,802	C/T	—	likely benign
rs1330438587	1:19,202,833	G/T	—	uncertain significance
rs761669593	1:19,202,847	C/A	—	uncertain significance
rs762005271	1:19,202,848	G/A	—	likely benign
rs763117079	1:19,202,866	G/A	—	likely benign
rs370707645	1:19,202,875	G/A	—	likely benign
rs2522544261	1:19,202,882	T/C	—	uncertain significance
rs149414160	1:19,202,886	A/G	—	conflicting classifications of pathogenicity
rs148586081	1:19,202,895	C/G	—	uncertain significance
rs2230707	1:19,202,896	G/A	—	benign

Showing 100 of 286 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.