PLOD1

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

Summary

Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Known Variants978 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs79541392	1:11,994,552	G/A	—	benign
rs72857800	1:11,994,616	G/C	—	benign
rs76923399	1:11,994,687	T/C	—	benign
rs144465849	1:11,994,760	G/A	—	conflicting classifications of pathogenicity
rs886045195	1:11,994,773	C/G	—	uncertain significance
rs566803699	1:11,994,776	C/T	—	uncertain significance
rs552712043	1:11,994,779	G/A	—	uncertain significance
rs769995450	1:11,994,798	G/T	—	uncertain significance
rs1252431057	1:11,994,810	C/A	—	likely benign
rs931657528	1:11,994,818	C/T	—	uncertain significance
rs1402614845	1:11,994,840	C/T	—	uncertain significance
rs968182062	1:11,994,845	C/T	—	likely benign
rs1297854052	1:11,994,846	C/T	—	likely benign
rs1645566495	1:11,994,861	C/T	—	likely benign
rs886039113	1:11,994,866	G/C	—	likely benign
rs2100729686	1:11,994,869	C/T	—	likely benign
rs2522756599	1:11,994,870	T/C	—	uncertain significance
rs1489027966	1:11,994,884	C/T	—	likely benign
rs373165011	1:11,994,888	G/A	—	conflicting classifications of pathogenicity
rs1266038179	1:11,994,890	G/A	—	likely benign
rs890184577	1:11,994,893	G/A	—	likely benign
rs1645566796	1:11,994,896	C/T	—	likely benign
rs2522756779	1:11,994,898	A/G	—	uncertain significance
rs1645566854	1:11,994,899	C/G	—	uncertain significance
rs2522756795	1:11,994,900	G/T	—	uncertain significance
rs1395571164	1:11,994,906	C/T	—	uncertain significance
rs1438879558	1:11,994,907	C/G	—	uncertain significance
rs1645566983	1:11,994,908	G/A	—	likely benign
rs1156552700	1:11,994,909	G/C	—	uncertain significance
rs774044489	1:11,994,910	A/C	—	uncertain significance
rs2100729726	1:11,994,922	C/T	—	likely benign
rs1358872485	1:11,994,923	G/A	—	likely benign
rs2522756934	1:11,994,925	A/C	—	likely benign
rs1037132866	1:11,994,926	G/A	—	likely benign
rs1427452861	1:11,994,927	G/T	—	likely benign
rs113691754	1:11,994,929	C/T	—	likely benign
rs2522756963	1:11,994,931	G/A	—	likely benign
rs1289583816	1:11,994,932	G/A	—	likely benign
rs111824694	1:11,995,005	T/C	—	likely benign
rs1208984	1:11,995,176	G/A	—	benign
rs72640296	1:11,997,518	G/A	intron variant	—
rs75220940	1:12,004,626	C/T	—	benign
rs776315809	1:12,004,638	G/T	—	likely benign
rs112799470	1:12,004,663	G/A	—	likely benign
rs534978828	1:12,004,675	C/T	—	conflicting classifications of pathogenicity
rs78727544	1:12,004,694	C/T	—	benign
rs79892860	1:12,007,817	C/T	—	likely benign
rs1353336563	1:12,008,013	A/C	—	likely benign
rs775036250	1:12,008,014	T/C	—	likely benign
rs1569681679	1:12,008,015	A/G	—	likely benign
rs748925361	1:12,008,016	C/T	—	likely benign
rs768307244	1:12,008,017	C/T	—	likely benign
rs376305279	1:12,008,020	C/T	—	likely benign
rs371488160	1:12,008,026	T/C	—	conflicting classifications of pathogenicity
rs2522799210	1:12,008,027	C/G	—	likely benign
rs1344595931	1:12,008,033	A/G	—	uncertain significance
rs2100741705	1:12,008,036	A/G	—	uncertain significance
rs776894307	1:12,008,038	C/A	—	uncertain significance
rs766724096	1:12,008,042	T/A	—	pathogenic
rs777178486	1:12,008,045	T/C	—	uncertain significance
rs2522799297	1:12,008,046	C/T	—	likely benign
rs374597380	1:12,008,051	C/T	—	uncertain significance
rs765270896	1:12,008,052	G/A	—	likely benign
rs148997434	1:12,008,059	A/G	—	uncertain significance
rs369263247	1:12,008,065	G/A	—	conflicting classifications of pathogenicity
rs11553679	1:12,008,070	C/T	—	likely benign
rs538407894	1:12,008,071	G/A	—	uncertain significance
rs779453447	1:12,008,073	G/A	—	likely benign
rs202003686	1:12,008,080	C/T	—	uncertain significance
rs202116614	1:12,008,081	G/A	—	uncertain significance
rs778603432	1:12,008,083	C/T	—	uncertain significance
rs141704997	1:12,008,084	G/A	—	uncertain significance
rs771332500	1:12,008,085	C/A	—	likely benign
rs765354146	1:12,008,091	G/A	—	likely benign
rs138698098	1:12,008,092	C/T	missense variant	pathogenic
rs142710681	1:12,008,093	G/A	—	conflicting classifications of pathogenicity
rs1189324317	1:12,008,101	C/T	—	pathogenic
rs371961536	1:12,008,109	C/G	—	uncertain significance
rs1645669185	1:12,008,111	A/G	—	uncertain significance
rs1569682156	1:12,008,115	C/T	—	likely benign
rs1433428588	1:12,008,122	C/T	—	pathogenic
rs2522799648	1:12,008,125	G/T	—	likely pathogenic
rs2522799680	1:12,008,133	T/C	—	likely benign
rs2522799694	1:12,008,140	G/A	—	likely benign
rs744754	1:12,008,203	C/T	—	benign
rs138210445	1:12,008,410	C/T	—	likely benign
rs58469200	1:12,009,734	C/T	—	benign
rs114595968	1:12,009,777	C/G	—	benign
rs2522804729	1:12,009,813	G/A	—	likely benign
rs2522804732	1:12,009,814	G/A	—	likely benign
rs1434606493	1:12,009,818	G/A	—	likely benign
rs760584840	1:12,009,819	T/C	—	conflicting classifications of pathogenicity
rs766073845	1:12,009,824	C/T	—	likely benign
rs2100743301	1:12,009,826	C/T	—	likely benign
rs753862253	1:12,009,831	C/T	—	uncertain significance
rs1645685588	1:12,009,832	G/A	—	likely benign
rs2100743311	1:12,009,835	T/G	—	likely benign
rs138106022	1:12,009,837	G/C	—	uncertain significance
rs34032489	1:12,009,838	C/T	—	benign
rs2522804867	1:12,009,841	A/G	—	likely benign

Showing 100 of 978 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.