PEPD

peptidase D

Summary

This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

Known Variants635 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1968084959	19:33,877,975	G/C	—	uncertain significance
rs1738163877	19:33,878,025	A/T	—	uncertain significance
rs3556	19:33,878,039	G/A	—	benign
rs565481482	19:33,878,095	C/T	—	uncertain significance
rs149914845	19:33,878,123	A/G	—	uncertain significance
rs1191204610	19:33,878,154	C/T	—	uncertain significance
rs77690463	19:33,878,197	G/A	—	benign
rs1061338	19:33,878,198	A/G	—	benign
rs375067721	19:33,878,210	A/T	—	uncertain significance
rs567334835	19:33,878,248	C/A	—	likely benign
rs529823817	19:33,878,262	A/G	—	likely benign
rs200567073	19:33,878,269	G/C	—	uncertain significance
rs1968096177	19:33,878,271	G/A	—	likely benign
rs1968096254	19:33,878,272	G/A	—	uncertain significance
rs375224388	19:33,878,277	G/A	—	likely benign
rs781570190	19:33,878,278	G/T	—	conflicting classifications of pathogenicity
rs1269372983	19:33,878,281	T/G	—	uncertain significance
rs144944440	19:33,878,290	C/A	—	likely benign
rs774917395	19:33,878,297	T/C	—	uncertain significance
rs372530277	19:33,878,299	C/T	—	uncertain significance
rs765378768	19:33,878,301	T/C	—	likely benign
rs1968097939	19:33,878,310	C/T	—	likely benign
rs761839916	19:33,878,312	C/T	—	uncertain significance
rs200072143	19:33,878,318	C/T	—	uncertain significance
rs765552774	19:33,878,323	C/T	—	uncertain significance
rs762921626	19:33,878,330	C/T	—	uncertain significance
rs1253850333	19:33,878,331	G/A	—	likely benign
rs758361826	19:33,878,340	C/A	—	likely benign
rs201222933	19:33,878,347	A/G	—	likely benign
rs781482255	19:33,878,352	G/T	—	uncertain significance
rs199999333	19:33,878,358	A/C	—	likely benign
rs1353843996	19:33,878,361	C/T	—	likely benign
rs189549581	19:33,878,366	C/T	—	uncertain significance
rs778506447	19:33,878,367	G/A	—	uncertain significance
rs747974977	19:33,878,369	C/T	—	uncertain significance
rs766389659	19:33,878,373	C/G	—	uncertain significance
rs767937361	19:33,878,378	C/T	—	uncertain significance
rs770898814	19:33,878,379	G/A	—	conflicting classifications of pathogenicity
rs763268525	19:33,878,382	G/T	—	likely benign
rs1600069637	19:33,878,388	C/T	—	likely pathogenic
rs762165014	19:33,878,395	A/G	—	likely benign
rs370774942	19:33,878,397	G/C	—	likely benign
rs374919986	19:33,878,398	C/G	—	conflicting classifications of pathogenicity
rs756435753	19:33,878,399	C/T	—	uncertain significance
rs1228756092	19:33,878,400	G/A	—	likely benign
rs370471235	19:33,878,404	G/C	—	likely benign
rs1600069675	19:33,878,405	A/G	—	likely benign
rs2513373918	19:33,878,406	C/T	—	likely benign
rs748875611	19:33,878,407	A/T	—	benign
rs375401743	19:33,878,783	C/T	—	conflicting classifications of pathogenicity
rs1249813509	19:33,878,784	G/A	—	likely benign
rs766670788	19:33,878,786	G/A	—	likely benign
rs1167014714	19:33,878,795	C/T	—	uncertain significance
rs121917724	19:33,878,798	C/T	missense variant	pathogenic
rs764929566	19:33,878,799	G/A	—	likely benign
rs368651528	19:33,878,807	C/T	—	uncertain significance
rs1302591533	19:33,878,808	G/A	—	likely benign
rs371934154	19:33,878,809	C/T	—	uncertain significance
rs991890877	19:33,878,810	G/A	—	uncertain significance
rs2230063	19:33,878,811	A/G	—	likely benign
rs568774163	19:33,878,815	C/T	—	conflicting classifications of pathogenicity
rs537755422	19:33,878,816	G/A	—	uncertain significance
rs2145320712	19:33,878,817	C/G	—	uncertain significance
rs1329725503	19:33,878,822	G/A	—	likely benign
rs369183873	19:33,878,823	G/A	—	likely benign
rs1484103189	19:33,878,827	T/C	—	uncertain significance
rs376211407	19:33,878,828	C/T	—	uncertain significance
rs369197590	19:33,878,829	G/A	—	conflicting classifications of pathogenicity
rs373297406	19:33,878,830	C/T	—	uncertain significance
rs376372688	19:33,878,831	G/A	—	uncertain significance
rs368792538	19:33,878,832	G/A	—	likely benign
rs1568442598	19:33,878,835	A/C	—	likely benign
rs17570	19:33,878,837	G/A	—	benign
rs1600070329	19:33,878,844	G/C	—	likely benign
rs149042427	19:33,878,846	C/T	—	likely benign
rs758148546	19:33,878,847	G/A	—	likely benign
rs763642654	19:33,878,848	C/T	—	uncertain significance
rs751121493	19:33,878,849	G/A	—	uncertain significance
rs1351041086	19:33,878,853	C/T	—	likely benign
rs183038027	19:33,878,859	C/T	—	conflicting classifications of pathogenicity
rs1968117401	19:33,878,865	G/A	—	likely benign
rs2513375193	19:33,878,876	G/A	—	likely benign
rs142070498	19:33,878,884	T/C	—	likely benign
rs559002568	19:33,878,885	C/G	—	uncertain significance
rs770965101	19:33,878,886	G/C	—	uncertain significance
rs759993012	19:33,878,892	G/A	—	likely benign
rs575962845	19:33,878,896	A/T	—	likely pathogenic
rs1166839766	19:33,878,897	T/A	—	uncertain significance
rs373060916	19:33,878,901	C/T	—	likely benign
rs762631029	19:33,878,902	G/A	—	uncertain significance
rs1370705324	19:33,878,903	G/A	—	uncertain significance
rs267606944	19:33,878,906	C/T	missense variant	pathogenic
rs544921062	19:33,878,909	C/T	—	uncertain significance
rs751317868	19:33,878,910	G/A	—	likely benign
rs2513375447	19:33,878,925	T/C	—	likely benign
rs766962619	19:33,878,926	G/A	—	uncertain significance
rs750322296	19:33,878,934	G/A	—	likely benign
rs779829444	19:33,878,938	C/T	—	uncertain significance
rs2513375496	19:33,878,945	T/C	—	uncertain significance
rs2513375511	19:33,878,951	G/A	—	likely benign

Showing 100 of 635 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.