W246C (p.Trp246Cys) variant of SMPD1 (Sphingomyelin phosphodiesterase)
W246C (p.Trp246Cys) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Niemann-Pick disease, type A; Sphingomyelin/cholesterol lipidosis. The record also includes published literature and structural context.
W246C (p.Trp246Cys) variant details
- p.Trp246Cys
- UniProt VAR 060886
- Likely pathogenic
- Niemann-Pick disease, type A; Sphingomyelin/cholesterol lipidosis
- Missense
- ClinVar: Likely pathogenic (Niemann-Pick disease, type A; Sphingomyelin/cholesterol lipidosi)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Structural context available
- Cited in: Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and… (PMID 15241805)
- Cited in: Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type… (PMID 16010684)