G63R (p.Gly63Arg) variant of ALPL (P05186)
G63R (p.Gly63Arg) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypophosphatasia. The record also includes published literature and structural context.
G63R (p.Gly63Arg) variant details
- p.Gly63Arg
- UniProt VAR 025906
- Likely pathogenic
- Hypophosphatasia
- Missense
- ClinVar: Likely pathogenic (Hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Structural context available
- Cited in: Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. (PMID 12815606)
- Cited in: Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X… (PMID 10094560)