CSTB


Cystatin B

Ensembl gene entry
Ensembl gene location
Omim gene
Genetics Home Reference entry

Diseases associated to this gene:
EPM1

Finnish Mutations

Mutation Consequence Amino acid change Reference sequence Articles
Minisatellite CCCCGCCCCGCG repeat expansion Reduced protein transcription 9090386
c.149G>A G50E 17003839
c.168+1_18del splicing defect 17003839
g.2388C>T R68X 8596935


Foreign Mutations

Mutation Consequence Amino acid change Reference sequence Population Articles
2399delTC frameshift, truncated protein 9012407
IVS1-1G>C aberrant splicing French, American 8596935
Minisatellite CCCCGCCCCGCG repeat expansion Reduced protein transcription EPM1 patients worldwide 9090386
g.1924G>C aberrant splicing 9012407
g.2027G>A Japanese 11814737
g.2352A>G aberrant splicing 9012407
g.2388C>T R68X Swedish 8596935
g.426G>C G4R Moroccan 9012407