CSTB
Gene name: cystatin B (stefin B)OMIM ID: 601145
Chromosome location: 21q22.3
Mutations
| Disease/Phenotype | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) |
|---|---|
| Reference transcript | NM_000100.3 |
| DNA Change | c.10G>C |
| A.A. Change | p.Gly4Arg |
| Exon/Intron | exon 1 |
| Mutation Type | substitution |
| Reference | Lalioti MD, Mirotsou M, Buresi C, Peitsch MC, Rossier C, Ouazzani R, Baldy-Moulinier M, Bottani A, Malafosse A, Antonarakis SE.Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Am J Hum Genet. 1997 Feb;60(2):342-51. |