SUCLA2

succinate-CoA ligase ADP-forming subunit beta

Summary

Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]

Known Variants349 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10397	13:48,516,845	G/T	—	benign
rs74615692	13:48,516,925	A/C	—	benign
rs886050256	13:48,517,038	T/C	—	uncertain significance
rs1949697178	13:48,517,071	T/C	—	uncertain significance
rs1949697193	13:48,517,072	A/C	—	uncertain significance
rs886050257	13:48,517,075	C/G	—	uncertain significance
rs1949697603	13:48,517,115	T/C	—	uncertain significance
rs879540740	13:48,517,126	G/A	—	uncertain significance
rs886050258	13:48,517,157	G/C	—	uncertain significance
rs776688171	13:48,517,175	G/T	—	uncertain significance
rs13243	13:48,517,178	T/C	—	benign
rs534469197	13:48,517,187	T/A	—	uncertain significance
rs772920028	13:48,517,254	G/A	—	uncertain significance
rs184125665	13:48,517,286	G/A	—	uncertain significance
rs4941618	13:48,517,289	A/G	—	benign
rs149321505	13:48,517,301	A/G	—	benign
rs886050260	13:48,517,311	T/C	—	uncertain significance
rs1461746252	13:48,517,322	C/T	—	uncertain significance
rs115959143	13:48,517,374	T/C	—	likely benign
rs886050261	13:48,517,471	A/C	—	uncertain significance
rs1555255524	13:48,517,492	A/T	—	benign
rs149877405	13:48,517,533	C/T	—	likely benign
rs754141542	13:48,517,545	C/T	—	likely benign
rs144969057	13:48,517,548	C/T	—	conflicting classifications of pathogenicity
rs778280630	13:48,517,563	T/C	—	likely benign
rs774895145	13:48,517,566	A/G	—	likely benign
rs2541662765	13:48,517,568	A/G	—	uncertain significance
rs2541662774	13:48,517,571	G/A	—	uncertain significance
rs140383237	13:48,517,578	A/G	—	conflicting classifications of pathogenicity
rs1011520952	13:48,517,590	A/T	—	likely benign
rs2541662794	13:48,517,591	A/C	—	likely benign
rs1260295010	13:48,517,592	G/C	—	likely benign
rs369590382	13:48,517,595	C/T	—	conflicting classifications of pathogenicity
rs369690029	13:48,517,599	G/A	—	likely benign
rs115548571	13:48,522,887	G/A	—	likely benign
rs73187756	13:48,522,908	T/G	—	benign
rs9562785	13:48,522,909	T/C	—	benign
rs1949755921	13:48,523,066	C/A	—	likely benign
rs2541667975	13:48,523,103	C/G	—	uncertain significance
rs144441199	13:48,523,122	C/T	—	uncertain significance
rs765178650	13:48,523,129	C/T	—	likely benign
rs761912388	13:48,523,141	C/T	—	likely benign
rs147829455	13:48,523,144	A/G	—	likely benign
rs760414248	13:48,523,152	C/T	—	uncertain significance
rs765465308	13:48,523,153	G/A	—	likely benign
rs764224889	13:48,523,172	G/T	—	likely benign
rs751641929	13:48,523,174	T/C	—	uncertain significance
rs2541668108	13:48,523,178	T/C	—	likely benign
rs757724696	13:48,523,179	G/A	—	likely benign
rs116556378	13:48,523,287	A/G	—	likely benign
rs4941619	13:48,523,407	C/T	—	benign
rs17425881	13:48,523,567	T/C	—	benign
rs763228733	13:48,523,603	A/G	—	likely benign
rs2541668653	13:48,523,610	A/G	—	likely benign
rs960659674	13:48,523,614	T/C	—	uncertain significance
rs1223638181	13:48,523,619	T/C	—	uncertain significance
rs2137688022	13:48,523,621	G/A	—	likely pathogenic
rs141295770	13:48,523,626	C/A	missense variant	pathogenic
rs1233249991	13:48,523,627	G/A	—	conflicting classifications of pathogenicity
rs2541668691	13:48,523,637	A/T	—	likely benign
rs2541668703	13:48,523,658	T/C	—	likely benign
rs778429318	13:48,523,698	C/T	—	uncertain significance
rs781744671	13:48,523,699	G/A	—	uncertain significance
rs1459850048	13:48,523,703	G/A	—	likely benign
rs754731265	13:48,523,705	T/C	—	uncertain significance
rs777781997	13:48,523,734	A/T	—	uncertain significance
rs2541668805	13:48,523,739	C/T	—	likely pathogenic
rs374695363	13:48,523,742	T/A	—	likely benign
rs368590927	13:48,523,747	A/G	—	likely benign
rs1187637724	13:48,523,757	G/A	—	likely benign
rs146144810	13:48,523,783	A/C	—	likely benign
rs41284201	13:48,523,797	C/A	—	likely benign
rs73489207	13:48,523,869	C/A	—	benign
rs74347380	13:48,523,952	C/T	—	benign
rs114659630	13:48,523,996	C/T	—	likely benign
rs12874522	13:48,524,020	T/C	—	benign
rs9567958	13:48,524,042	A/T	—	benign
rs77175891	13:48,527,997	T/C	—	likely benign
rs7333821	13:48,528,007	A/G	—	benign
rs7334207	13:48,528,178	A/G	—	benign
rs2541673114	13:48,528,256	T/C	—	likely benign
rs2541673122	13:48,528,264	C/G	—	likely benign
rs2137694016	13:48,528,265	C/G	—	likely benign
rs2541673128	13:48,528,268	C/G	—	likely benign
rs117412559	13:48,528,283	C/A	—	uncertain significance
rs1302894616	13:48,528,293	A/C	—	likely benign
rs2541673162	13:48,528,295	G/C	—	uncertain significance
rs150996983	13:48,528,306	T/G	—	uncertain significance
rs746516356	13:48,528,308	T/G	—	conflicting classifications of pathogenicity
rs2541673197	13:48,528,327	G/A	—	uncertain significance
rs1245036990	13:48,528,336	C/A	—	uncertain significance
rs1282208356	13:48,528,339	A/C	—	uncertain significance
rs1171689376	13:48,528,353	G/T	—	likely benign
rs1206150282	13:48,528,362	C/A	—	likely benign
rs1337907073	13:48,528,365	T/G	—	likely benign
rs1432899624	13:48,528,371	A/T	—	likely benign
rs1254525675	13:48,528,380	T/G	—	likely benign
rs2541673278	13:48,528,381	A/G	—	uncertain significance
rs140963290	13:48,528,384	T/C	—	pathogenic
rs972696428	13:48,528,385	C/A	—	likely pathogenic

Showing 100 of 349 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.