CSTB

cystatin B

Summary

The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016]

Known Variants143 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14903959821:45,193,648C/T—uncertain significance
rs14306258521:45,193,728G/C—conflicting classifications of pathogenicity
rs53396915421:45,193,749C/T—uncertain significance
rs2869164521:45,193,758C/T—benign
rs53606955721:45,193,764C/T—uncertain significance
rs88605711121:45,193,782C/T—uncertain significance
rs76817371421:45,193,796C/T—uncertain significance
rs88605711221:45,193,856T/C—uncertain significance
rs146623737721:45,193,874T/A—uncertain significance
rs944621:45,193,990C/T—likely benign
rs638521:45,194,009A/G—benign
rs14276758521:45,194,014T/C—likely benign
rs638421:45,194,064G/A—likely benign
rs20157671421:45,194,076G/C—likely benign
rs208399879621:45,194,085A/G—uncertain significance
rs212338538121:45,194,086G/A—likely benign
rs118681094721:45,194,090T/C—uncertain significance
rs79605239321:45,194,106G/A—uncertain significance
rs54021587521:45,194,107C/T—likely benign
rs13833716721:45,194,111G/C—uncertain significance
rs76150463721:45,194,112C/T—uncertain significance
rs76725872221:45,194,116G/A—likely benign
rs212338544021:45,194,134T/C—likely benign
rs208399907021:45,194,137G/A—likely benign
rs76628524521:45,194,145G/A—uncertain significance
rs208399913121:45,194,148T/G—uncertain significance
rs75507348321:45,194,156T/C—uncertain significance
rs75300411321:45,194,159G/A—uncertain significance
rs251717076221:45,194,161G/A—likely benign
rs79605239221:45,194,166A/G—uncertain significance
rs75863923621:45,194,167T/C—likely benign
rs12190934621:45,194,168T/Gmissense variantpathogenic
rs251717078021:45,194,173C/A—likely benign
rs75770776121:45,194,177C/G—uncertain significance
rs7431544221:45,194,178G/Astop gainedpathogenic
rs124970387921:45,194,179C/T—likely benign
rs74881844221:45,194,184G/A—uncertain significance
rs57076803821:45,194,187C/T—conflicting classifications of pathogenicity
rs77382088421:45,194,188G/A—likely benign
rs156900554021:45,194,189A/C—uncertain significance
rs212338555821:45,194,191G/C—uncertain significance
rs14730702121:45,194,196C/T—uncertain significance
rs77289978821:45,194,197G/A—likely benign
rs77102763121:45,194,200G/A—likely benign
rs75951175821:45,194,202C/T—uncertain significance
rs76547701021:45,194,203G/A—likely benign
rs53168536021:45,194,205C/T—uncertain significance
rs76309575021:45,194,206G/A—likely benign
rs208399968621:45,194,208G/A—uncertain significance
rs79605239421:45,194,211C/T—uncertain significance
rs38683344121:45,194,213T/C—pathogenic
rs76430968921:45,194,216G/C—uncertain significance
rs148727125721:45,194,221G/C—likely benign
rs75190062221:45,194,224C/T—likely benign
rs75759357621:45,194,225G/A—conflicting classifications of pathogenicity
rs18083228121:45,194,486G/A—likely benign
rs74558911321:45,194,520C/A—likely benign
rs91096655221:45,194,526G/A—likely benign
rs55622125821:45,194,531C/T—likely benign
rs251717135921:45,194,532A/G—likely benign
rs87924673421:45,194,533C/G—uncertain significance
rs77544783321:45,194,534T/C—uncertain significance
rs38683344021:45,194,539C/Tsplice region variantpathogenic
rs93577417221:45,194,540T/C—uncertain significance
rs77429163221:45,194,547A/C—uncertain significance
rs76208223621:45,194,549T/C—uncertain significance
rs54167166121:45,194,552T/A—uncertain significance
rs31226270821:45,194,558C/Tmissense variantnot provided
rs76665470321:45,194,560C/T—likely benign
rs75442170421:45,194,561G/A—uncertain significance
rs55990682521:45,194,562C/T—uncertain significance
rs20209639521:45,194,563G/A—likely benign
rs208400174421:45,194,567A/C—uncertain significance
rs14079975221:45,194,568C/G—uncertain significance
rs74567895821:45,194,570T/C—uncertain significance
rs54598636721:45,194,571G/Astop gainedpathogenic
rs37500875521:45,194,572G/A—likely benign
rs208400186621:45,194,578G/C—uncertain significance
rs38683343921:45,194,582G/Tstop gainedpathogenic
rs14315348721:45,194,586C/T—conflicting classifications of pathogenicity
rs36819883921:45,194,587G/A—likely benign
rs251717144321:45,194,591T/C—uncertain significance
rs136561250421:45,194,594A/T—uncertain significance
rs77450479021:45,194,596C/T—likely benign
rs74816213621:45,194,601G/A—uncertain significance
rs208400212121:45,194,607T/C—uncertain significance
rs143615571321:45,194,611G/A—likely benign
rs135830410421:45,194,622C/T—uncertain significance
rs14748411021:45,194,641C/Gsplice region variantpathogenic
rs638321:45,194,643A/G—likely benign
rs208400230521:45,194,644G/C—conflicting classifications of pathogenicity
rs19987308721:45,194,650A/C—likely benign
rs77684190721:45,194,652G/A—likely benign
rs638121:45,194,790C/T—benign
rs637821:45,194,964C/T—likely benign
rs637121:45,195,916T/A—likely benign
rs637021:45,195,977A/G—likely benign
rs636921:45,195,996A/G—benign
rs119724074721:45,196,065C/G—likely benign
rs53972897221:45,196,070C/G—likely benign

Showing 100 of 143 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.