PSAP

prosaposin

Summary

This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]

Known Variants713 total

rsidPosition (GRCh37)AllelesClassClinVar
rs53717196110:73,576,190G/A—uncertain significance
rs88604714810:73,576,263T/C—uncertain significance
rs88604714910:73,576,339G/A—uncertain significance
rs93205224310:73,576,411G/A—uncertain significance
rs7966240410:73,576,423C/T—benign
rs14704650910:73,576,461C/T—conflicting classifications of pathogenicity
rs96503932410:73,576,602T/C—uncertain significance
rs54940234310:73,576,624C/G—uncertain significance
rs184217708110:73,576,672C/T—uncertain significance
rs14190639710:73,576,822T/C—conflicting classifications of pathogenicity
rs95111090410:73,576,852G/A—uncertain significance
rs54740913710:73,576,922C/T—uncertain significance
rs11328488410:73,577,076G/C—conflicting classifications of pathogenicity
rs54421452010:73,577,085G/A—uncertain significance
rs134841579710:73,577,108G/A—uncertain significance
rs54169219710:73,577,125G/A—uncertain significance
rs37662849910:73,577,189T/C—conflicting classifications of pathogenicity
rs128097848110:73,577,211T/C—uncertain significance
rs213302579910:73,577,213G/A—likely benign
rs54562791410:73,577,214C/T—uncertain significance
rs135344537410:73,577,215G/A—uncertain significance
rs75106101510:73,577,216T/C—uncertain significance
rs78099052110:73,577,225C/T—likely benign
rs56372736010:73,577,227C/T—uncertain significance
rs75584870710:73,577,228G/A—likely benign
rs184219290510:73,577,237G/A—likely benign
rs77756115910:73,577,238T/C—likely benign
rs99790365210:73,577,241G/C—likely benign
rs53102392510:73,577,243G/A—likely benign
rs184219335210:73,577,245G/C—likely benign
rs249448861210:73,577,252C/A—likely benign
rs77084905410:73,577,253T/A—likely benign
rs474720210:73,577,267G/A—benign
rs7327970610:73,577,552C/T—benign
rs76257310:73,578,152T/A—benign
rs1076248210:73,578,159A/T—benign
rs37277216510:73,578,354C/T—likely benign
rs249449227110:73,578,356G/T—likely benign
rs148641021310:73,578,368A/C—uncertain significance
rs77890484810:73,578,376T/C—uncertain significance
rs249449238110:73,578,383G/C—likely benign
rs249449240710:73,578,389T/C—likely benign
rs14900043310:73,578,394C/G—conflicting classifications of pathogenicity
rs213302866810:73,578,395T/A—likely benign
rs78118077210:73,578,399T/C—uncertain significance
rs249449248710:73,578,404G/A—likely benign
rs213302869810:73,578,413G/A—likely benign
rs146877299610:73,578,416T/C—likely benign
rs14377376410:73,578,418G/A—uncertain significance
rs249449258410:73,578,426A/G—uncertain significance
rs158944569710:73,578,434C/T—likely benign
rs13917890010:73,578,437A/G—conflicting classifications of pathogenicity
rs213302876710:73,578,441C/T—uncertain significance
rs56251928210:73,578,446C/A—uncertain significance
rs74966071610:73,578,457G/A—conflicting classifications of pathogenicity
rs11438926410:73,578,461C/T—benign
rs20057764610:73,578,484A/G—conflicting classifications of pathogenicity
rs77508657110:73,578,485T/C—conflicting classifications of pathogenicity
rs249449289410:73,578,487T/C—likely benign
rs76376815710:73,578,500A/G—likely benign
rs184222971210:73,578,501A/G—likely benign
rs88582810:73,578,503G/A—benign
rs14258162710:73,578,510G/C—benign
rs7843288010:73,578,628C/T—benign
rs74982310:73,578,672A/G—benign
rs249449409310:73,578,769A/G—likely benign
rs249449410310:73,578,770C/A—likely benign
rs37493700410:73,578,777G/C—likely benign
rs139685273110:73,578,781G/C—likely benign
rs140996913010:73,578,788C/T—likely pathogenic
rs158944595010:73,578,794C/A—likely benign
rs52831854510:73,578,797G/C—uncertain significance
rs184223657310:73,578,800G/A—likely benign
rs75155745510:73,578,804G/A—uncertain significance
rs89723394010:73,578,815C/G—uncertain significance
rs249449431710:73,578,821C/G—likely benign
rs121606993810:73,578,824G/T—likely benign
rs76281119910:73,578,830G/C—uncertain significance
rs13871661310:73,578,838C/T—uncertain significance
rs104988210:73,578,839G/A—likely benign
rs120875394810:73,578,842C/T—likely benign
rs144773382010:73,578,844C/T—uncertain significance
rs14692517910:73,578,845G/A—likely benign
rs155487974110:73,578,850C/A—likely pathogenic
rs213302971210:73,578,861T/G—risk factor
rs119484856410:73,578,867C/T—uncertain significance
rs213302972510:73,578,870T/C—likely pathogenic
rs78069182210:73,578,873A/G—likely benign
rs92151480010:73,578,877G/T—likely benign
rs74741474010:73,578,878A/T—likely benign
rs143403241110:73,578,883G/A—likely benign
rs249449467010:73,578,884G/A—likely benign
rs130285871110:73,578,894T/C—benign
rs93290912910:73,579,202C/G—likely benign
rs122720155710:73,579,205C/G—likely benign
rs213303047810:73,579,206C/G—likely benign
rs57481141810:73,579,207C/T—likely benign
rs249449609910:73,579,210C/T—likely benign
rs54253770610:73,579,212C/T—likely benign
rs74743059210:73,579,213G/A—likely benign

Showing 100 of 713 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.