S381P (p.Ser381Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
S381P (p.Ser381Pro) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Niemann-Pick disease, type A; Niemann-Pick disease, type B. The record also includes published literature and structural context.
S381P (p.Ser381Pro) variant details
- p.Ser381Pro
- rs2493813796
- ClinGen CA379372998
- ClinVar RCV003062328
- UniProt VAR 060903
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Structural context available
- Cited in: The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype… (PMID 12369017)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)