R602P (p.Arg602Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R602P (p.Arg602Pro) 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 B; Niemann-Pick disease, type A. The record also includes published literature and structural context.
R602P (p.Arg602Pro) variant details
- p.Arg602Pro
- UniProt VAR 060933
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type B; Niemann-Pick disease, type A
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type B; Niemann-Pick disease, type A)
- 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: Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type… (PMID 16010684)