TPP1

tripeptidyl peptidase 1

Summary

This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008]

Known Variants906 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886048532	11:6,634,003	C/T	—	uncertain significance
rs1299016829	11:6,634,036	C/A	—	uncertain significance
rs886048533	11:6,634,062	A/G	—	uncertain significance
rs886048534	11:6,634,143	A/G	—	uncertain significance
rs7488	11:6,634,149	C/T	—	benign
rs7487	11:6,634,189	A/G	—	benign
rs369352772	11:6,634,207	G/A	—	uncertain significance
rs541932361	11:6,634,217	G/A	—	uncertain significance
rs374146578	11:6,634,237	A/G	—	uncertain significance
rs561558362	11:6,634,269	C/T	—	uncertain significance
rs775934269	11:6,634,299	A/T	—	uncertain significance
rs188544089	11:6,634,349	A/G	—	uncertain significance
rs886048535	11:6,634,365	A/C	—	uncertain significance
rs886048536	11:6,634,466	G/A	—	uncertain significance
rs886048537	11:6,634,475	T/A	—	uncertain significance
rs1032115129	11:6,634,495	G/T	—	uncertain significance
rs193029892	11:6,634,527	A/T	—	uncertain significance
rs1045450	11:6,634,659	C/G	—	benign
rs1855527274	11:6,634,669	A/G	—	uncertain significance
rs886048538	11:6,634,777	A/G	—	uncertain significance
rs188148381	11:6,634,791	G/C	—	likely benign
rs1000719227	11:6,634,793	A/T	—	uncertain significance
rs1339024138	11:6,634,840	G/A	—	uncertain significance
rs533616443	11:6,634,948	G/A	—	uncertain significance
rs764323122	11:6,634,992	A/C	—	uncertain significance
rs957511928	11:6,635,061	G/T	—	uncertain significance
rs1033619913	11:6,635,073	G/A	—	uncertain significance
rs886048539	11:6,635,109	G/T	—	uncertain significance
rs149218047	11:6,635,431	T/C	—	uncertain significance
rs201122774	11:6,635,465	A/G	—	uncertain significance
rs74843914	11:6,635,536	A/G	—	benign
rs538963672	11:6,635,554	A/G	—	uncertain significance
rs953806091	11:6,635,606	A/G	—	uncertain significance
rs985151429	11:6,635,653	G/A	—	uncertain significance
rs140680586	11:6,635,706	C/T	—	benign
rs370517226	11:6,635,733	A/T	—	uncertain significance
rs368345241	11:6,635,765	G/T	—	likely benign
rs2134590234	11:6,635,779	A/G	—	uncertain significance
rs1207993020	11:6,635,782	G/A	—	uncertain significance
rs2134590246	11:6,635,783	G/A	—	likely benign
rs1262431914	11:6,635,786	G/A	—	likely benign
rs566120191	11:6,635,788	G/C	—	uncertain significance
rs2493795073	11:6,635,790	A/G	—	uncertain significance
rs2134590272	11:6,635,793	G/C	—	uncertain significance
rs2134590280	11:6,635,795	C/G	—	uncertain significance
rs777267276	11:6,635,798	C/T	—	conflicting classifications of pathogenicity
rs888341233	11:6,635,799	A/G	—	uncertain significance
rs1855546019	11:6,635,800	G/T	—	uncertain significance
rs200880556	11:6,635,805	G/T	—	uncertain significance
rs1421089514	11:6,635,806	C/T	—	uncertain significance
rs2134590322	11:6,635,807	T/C	—	likely benign
rs868090227	11:6,635,809	G/A	—	uncertain significance
rs372564255	11:6,635,816	G/C	—	conflicting classifications of pathogenicity
rs1471166450	11:6,635,817	G/C	—	uncertain significance
rs987390731	11:6,635,825	C/T	—	uncertain significance
rs2134590374	11:6,635,826	C/T	—	uncertain significance
rs1348967263	11:6,635,827	A/G	—	uncertain significance
rs2493795127	11:6,635,828	G/A	—	likely benign
rs1272120677	11:6,635,831	T/C	—	likely benign
rs767154380	11:6,635,832	G/A	—	uncertain significance
rs2493795142	11:6,635,834	T/C	—	likely benign
rs752436484	11:6,635,835	A/G	—	uncertain significance
rs1855546959	11:6,635,836	C/A	—	uncertain significance
rs2493795154	11:6,635,837	A/G	—	likely benign
rs121908210	11:6,635,839	G/A	—	not provided
rs2134590423	11:6,635,843	C/T	—	pathogenic
rs2493795176	11:6,635,846	G/A	—	likely benign
rs2134590426	11:6,635,848	C/T	—	uncertain significance
rs55684773	11:6,635,855	A/T	—	likely benign
rs755878872	11:6,635,856	G/T	—	pathogenic
rs777744177	11:6,635,859	C/T	—	uncertain significance
rs2493795199	11:6,635,866	C/T	—	likely pathogenic
rs2493795200	11:6,635,867	C/T	—	likely benign
rs2493795202	11:6,635,868	T/C	—	uncertain significance
rs1554901472	11:6,635,869	G/A	—	pathogenic
rs2134590473	11:6,635,872	C/T	—	uncertain significance
rs1554901473	11:6,635,876	T/C	—	likely benign
rs757367088	11:6,635,877	A/G	—	uncertain significance
rs2493795224	11:6,635,878	C/T	—	uncertain significance
rs1855547773	11:6,635,879	C/T	—	likely benign
rs1476756779	11:6,635,881	C/T	—	uncertain significance
rs2493795233	11:6,635,884	C/T	—	uncertain significance
rs375364589	11:6,635,887	C/T	—	uncertain significance
rs1430633492	11:6,635,894	G/T	—	likely benign
rs2134590496	11:6,635,895	G/A	—	uncertain significance
rs1157546558	11:6,635,899	C/A	—	pathogenic
rs1029334403	11:6,635,900	A/G	—	likely benign
rs2134590511	11:6,635,904	C/T	—	uncertain significance
rs1589947366	11:6,635,906	G/C	—	likely benign
rs368697480	11:6,635,910	C/T	—	uncertain significance
rs371204585	11:6,635,911	G/T	—	uncertain significance
rs2493795274	11:6,635,912	G/C	—	likely benign
rs1315475423	11:6,635,915	T/A	—	likely benign
rs1057516511	11:6,635,918	C/T	—	pathogenic
rs369699167	11:6,635,926	G/A	—	conflicting classifications of pathogenicity
rs1435878513	11:6,635,928	G/A	—	likely benign
rs1589947380	11:6,635,929	G/T	—	likely benign
rs1855548942	11:6,635,930	C/G	—	likely benign
rs1006965532	11:6,635,931	T/G	—	conflicting classifications of pathogenicity
rs2493795309	11:6,635,932	G/A	—	likely benign

Showing 100 of 906 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.