G35R (p.Gly35Arg) variant of GLA (Alpha-galactosidase A)
G35R (p.Gly35Arg) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fabry disease. The record also includes published literature and structural context.
G35R (p.Gly35Arg) variant details
- p.Gly35Arg
- UniProt VAR 000433
- Likely pathogenic
- Fabry disease
- Missense
- ClinVar: Likely pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease. (PMID 8069316)
- Cited in: The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the… (PMID 10090526)