DBT

dihydrolipoamide branched chain transacylase E2

Summary

The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Known Variants588 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4364901	1:100,652,404	C/T	—	benign
rs893701906	1:100,652,581	A/G	—	uncertain significance
rs1009840621	1:100,652,583	G/A	—	uncertain significance
rs79752201	1:100,652,688	T/C	—	uncertain significance
rs574151688	1:100,652,706	T/C	—	uncertain significance
rs72728160	1:100,652,729	A/G	—	benign
rs886044935	1:100,652,753	G/A	—	uncertain significance
rs113536022	1:100,652,834	A/G	—	benign
rs77587629	1:100,652,867	T/C	—	benign
rs886044936	1:100,652,911	T/A	—	uncertain significance
rs1660613432	1:100,652,981	A/G	—	uncertain significance
rs564195699	1:100,653,077	T/G	—	uncertain significance
rs959425245	1:100,653,141	T/C	—	uncertain significance
rs576300118	1:100,653,148	A/G	—	uncertain significance
rs886044937	1:100,653,169	G/C	—	uncertain significance
rs150241889	1:100,653,204	C/T	—	likely benign
rs543411196	1:100,653,259	T/A	—	likely benign
rs1660634228	1:100,653,340	A/G	—	uncertain significance
rs886044940	1:100,653,426	T/G	—	uncertain significance
rs189649370	1:100,653,536	T/C	—	uncertain significance
rs560160662	1:100,653,585	C/A	—	uncertain significance
rs758082965	1:100,653,693	A/G	—	uncertain significance
rs190798710	1:100,653,728	G/A	—	uncertain significance
rs1018443361	1:100,653,731	G/C	—	uncertain significance
rs550751216	1:100,653,737	C/T	—	uncertain significance
rs886044941	1:100,653,738	G/A	—	uncertain significance
rs1660663776	1:100,653,869	C/T	—	uncertain significance
rs185528579	1:100,654,113	G/A	—	likely benign
rs535852086	1:100,654,121	A/G	—	uncertain significance
rs897269544	1:100,654,342	A/G	—	uncertain significance
rs893354618	1:100,654,442	C/T	—	uncertain significance
rs143822588	1:100,654,453	G/A	—	benign
rs182980145	1:100,654,504	C/G	—	likely benign
rs1660695055	1:100,654,588	G/A	—	uncertain significance
rs886044942	1:100,654,624	C/T	—	uncertain significance
rs10783125	1:100,654,908	A/T	—	benign
rs200943386	1:100,654,909	A/T	—	uncertain significance
rs200062717	1:100,654,910	A/T	—	uncertain significance
rs986607367	1:100,655,040	T/C	—	uncertain significance
rs529415312	1:100,655,095	G/C	—	likely benign
rs72973747	1:100,655,165	C/A	—	benign
rs1660732127	1:100,655,398	G/A	—	uncertain significance
rs1435365769	1:100,655,541	T/C	—	uncertain significance
rs4281338	1:100,655,583	A/T	—	benign
rs141483625	1:100,655,842	G/A	—	likely benign
rs567706972	1:100,655,852	T/C	—	uncertain significance
rs115442245	1:100,655,892	T/C	—	likely benign
rs562874757	1:100,655,934	C/G	—	uncertain significance
rs761370134	1:100,655,936	A/C	—	uncertain significance
rs79887429	1:100,655,973	C/T	—	benign
rs187688215	1:100,656,027	A/G	—	uncertain significance
rs886044944	1:100,656,173	G/A	—	uncertain significance
rs749879959	1:100,656,220	A/G	—	uncertain significance
rs886044945	1:100,656,250	T/C	—	uncertain significance
rs11166412	1:100,656,265	C/T	—	benign
rs1660776922	1:100,656,431	C/G	—	uncertain significance
rs116806523	1:100,656,464	G/A	—	benign
rs150770445	1:100,656,483	G/C	—	uncertain significance
rs11166413	1:100,656,494	A/G	—	benign
rs6701655	1:100,656,661	C/T	—	benign
rs12044663	1:100,656,939	T/C	—	benign
rs920810590	1:100,656,947	G/A	—	uncertain significance
rs573460625	1:100,657,123	C/A	—	uncertain significance
rs531886164	1:100,657,235	C/G	—	uncertain significance
rs762813875	1:100,657,304	A/G	—	uncertain significance
rs112901689	1:100,657,305	T/C	—	benign
rs752398323	1:100,657,365	G/C	—	uncertain significance
rs1030557885	1:100,657,386	G/T	—	uncertain significance
rs79471979	1:100,657,416	C/T	—	benign
rs886044946	1:100,657,434	G/C	—	uncertain significance
rs886044947	1:100,657,490	C/A	—	uncertain significance
rs187287215	1:100,657,498	C/T	—	uncertain significance
rs1256627350	1:100,657,520	G/T	—	uncertain significance
rs12568926	1:100,657,538	G/T	—	likely benign
rs774122510	1:100,657,561	G/A	—	uncertain significance
rs1660837776	1:100,657,574	T/G	—	uncertain significance
rs139169068	1:100,657,687	G/T	—	uncertain significance
rs74825164	1:100,657,717	G/T	—	benign
rs988697898	1:100,657,816	C/A	—	uncertain significance
rs1570793211	1:100,657,952	A/G	—	uncertain significance
rs757800211	1:100,658,022	T/G	—	uncertain significance
rs1660860600	1:100,658,118	G/C	—	uncertain significance
rs755229964	1:100,658,159	C/G	—	uncertain significance
rs541279304	1:100,658,225	T/C	—	uncertain significance
rs754461561	1:100,658,290	C/T	—	uncertain significance
rs532058526	1:100,658,350	T/C	—	uncertain significance
rs886044949	1:100,658,356	G/A	—	uncertain significance
rs1266134285	1:100,658,566	C/T	—	uncertain significance
rs1660880039	1:100,658,571	A/T	—	uncertain significance
rs2784174	1:100,658,578	G/A	—	benign
rs886044951	1:100,658,610	C/T	—	uncertain significance
rs886044952	1:100,658,624	G/C	—	uncertain significance
rs886044953	1:100,658,676	C/T	—	uncertain significance
rs886044954	1:100,658,784	T/C	—	uncertain significance
rs1660889107	1:100,658,789	C/T	—	uncertain significance
rs1023974357	1:100,658,960	G/A	—	uncertain significance
rs747199821	1:100,658,989	A/C	—	uncertain significance
rs116578353	1:100,659,001	T/C	—	benign
rs541064624	1:100,659,192	C/T	—	likely benign
rs886044955	1:100,659,448	C/A	—	uncertain significance

Showing 100 of 588 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.