SPR

sepiapterin reductase

Summary

This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]

Known Variants224 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2421095	2:73,113,524	G/T	—	—
rs1876487	2:73,114,352	A/C	regulatory region variant	benign
rs886056286	2:73,114,522	C/G	—	uncertain significance
rs750423023	2:73,114,549	G/A	regulatory region variant	pathogenic
rs184034436	2:73,114,555	C/G	—	likely benign
rs778710354	2:73,114,558	G/C	—	uncertain significance
rs758245029	2:73,114,562	A/C	—	likely pathogenic
rs1434497201	2:73,114,565	G/T	—	likely pathogenic
rs946094503	2:73,114,567	G/A	—	likely benign
rs1300839149	2:73,114,570	C/T	—	likely benign
rs2105239914	2:73,114,571	G/A	—	uncertain significance
rs770655581	2:73,114,572	G/T	—	uncertain significance
rs1223831796	2:73,114,576	G/A	—	likely benign
rs769415486	2:73,114,577	G/C	—	uncertain significance
rs775850923	2:73,114,584	C/T	—	uncertain significance
rs2528313033	2:73,114,585	T/G	—	likely benign
rs1444125443	2:73,114,588	G/A	—	likely benign
rs2528313061	2:73,114,589	T/C	—	uncertain significance
rs1189166320	2:73,114,599	C/T	—	uncertain significance
rs763505400	2:73,114,600	C/T	—	likely benign
rs1670556657	2:73,114,601	G/C	—	uncertain significance
rs768977579	2:73,114,602	G/T	—	uncertain significance
rs2528313225	2:73,114,603	G/A	—	likely benign
rs1178970708	2:73,114,611	G/T	—	uncertain significance
rs2528313261	2:73,114,615	C/T	—	likely benign
rs774659668	2:73,114,618	C/G	—	uncertain significance
rs767579742	2:73,114,627	G/A	—	likely benign
rs750723240	2:73,114,628	C/T	—	likely benign
rs896031772	2:73,114,635	C/G	—	uncertain significance
rs1326786954	2:73,114,636	G/A	—	likely benign
rs760657183	2:73,114,638	T/A	—	uncertain significance
rs1036407923	2:73,114,639	C/G	—	likely benign
rs1559047972	2:73,114,641	T/C	—	uncertain significance
rs1670557951	2:73,114,644	C/A	—	uncertain significance
rs370621751	2:73,114,645	C/G	—	likely benign
rs886056287	2:73,114,648	G/C	—	conflicting classifications of pathogenicity
rs1670558089	2:73,114,649	C/T	—	likely benign
rs961265501	2:73,114,657	G/T	—	likely benign
rs1670558347	2:73,114,660	C/T	—	likely benign
rs752546466	2:73,114,665	C/T	—	uncertain significance
rs1670558464	2:73,114,666	C/T	—	likely benign
rs869312688	2:73,114,667	G/A	—	uncertain significance
rs146099322	2:73,114,673	G/A	—	conflicting classifications of pathogenicity
rs777872233	2:73,114,676	C/T	—	uncertain significance
rs1450742178	2:73,114,681	C/T	—	conflicting classifications of pathogenicity
rs888988467	2:73,114,686	G/T	—	uncertain significance
rs1229575902	2:73,114,687	C/T	—	likely benign
rs1366239043	2:73,114,691	G/C	—	uncertain significance
rs2105240113	2:73,114,699	A/G	—	likely benign
rs2105240119	2:73,114,705	C/G	—	likely benign
rs1343111381	2:73,114,706	C/G	—	uncertain significance
rs2528313639	2:73,114,711	G/A	—	likely benign
rs2528313649	2:73,114,717	C/G	—	likely benign
rs780706811	2:73,114,718	G/C	—	uncertain significance
rs1441127327	2:73,114,723	G/A	—	likely benign
rs1670559847	2:73,114,729	C/T	—	likely benign
rs745594726	2:73,114,754	C/T	—	uncertain significance
rs1559048050	2:73,114,758	T/A	—	uncertain significance
rs1477556643	2:73,114,762	C/T	—	likely benign
rs2528313790	2:73,114,765	C/A	—	likely benign
rs779655618	2:73,114,768	C/G	—	uncertain significance
rs2528313814	2:73,114,774	C/T	—	likely benign
rs1446515260	2:73,114,777	C/G	—	likely benign
rs1057079928	2:73,114,789	G/A	—	likely benign
rs769104065	2:73,114,801	C/T	—	likely benign
rs1670561470	2:73,114,804	C/T	—	likely benign
rs774854066	2:73,114,805	G/A	—	uncertain significance
rs1450427916	2:73,114,808	C/T	—	likely benign
rs2528313866	2:73,114,810	G/C	—	likely benign
rs543400201	2:73,114,813	C/T	—	likely benign
rs1294971650	2:73,114,819	C/T	—	likely benign
rs1027610333	2:73,114,820	C/A	—	uncertain significance
rs1573881909	2:73,114,821	C/G	—	uncertain significance
rs868327472	2:73,114,822	C/G	—	likely benign
rs564501639	2:73,114,823	C/T	—	conflicting classifications of pathogenicity
rs979284301	2:73,114,824	G/A	—	uncertain significance
rs952072061	2:73,114,825	G/A	—	likely benign
rs760997514	2:73,114,827	C/T	—	uncertain significance
rs1670562273	2:73,114,834	G/T	—	likely benign
rs1670562308	2:73,114,838	C/T	—	pathogenic
rs1670562341	2:73,114,841	C/A	—	likely benign
rs1573881927	2:73,114,844	C/G	—	uncertain significance
rs2528313962	2:73,114,846	G/A	—	likely benign
rs1475888044	2:73,114,858	C/T	—	likely benign
rs387907200	2:73,114,865	G/T	missense variant	pathogenic
rs1432475632	2:73,114,870	G/C	—	uncertain significance
rs1336009784	2:73,114,875	C/T	—	likely benign
rs1670563073	2:73,114,876	G/A	—	likely benign
rs1406662634	2:73,114,878	G/T	—	likely benign
rs2528314056	2:73,114,881	T/C	—	likely benign
rs112509481	2:73,115,088	T/G	—	benign
rs59839821	2:73,115,317	C/A	—	benign
rs2528315245	2:73,115,424	C/T	—	likely benign
rs1429690262	2:73,115,425	T/C	—	likely benign
rs1470942028	2:73,115,426	A/G	—	likely benign
rs554510663	2:73,115,429	G/A	—	likely benign
rs192766290	2:73,115,431	T/C	—	conflicting classifications of pathogenicity
rs1573882268	2:73,115,441	A/G	—	pathogenic
rs543268920	2:73,115,444	C/T	—	likely benign
rs967985144	2:73,115,445	T/C	—	uncertain significance

Showing 100 of 224 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.