L363R (p.Leu363Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L363R (p.Leu363Arg) 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.
L363R (p.Leu363Arg) variant details
- p.Leu363Arg
- rs2134013368
- ClinGen CA379371895
- ClinVar RCV001527422
- ClinVar RCV002568858
- 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 NPDA)
- UniProt: Pathogenic (in NPDA)
- Structural context available
- Cited in: Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. (PMID 27338287)
- Cited in: Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. (PMID 12556236)