Y86C (p.Tyr86Cys) variant of GLA (Alpha-galactosidase A)
Y86C (p.Tyr86Cys) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fabry disease. The record also includes published literature and structural context.
Y86C (p.Tyr86Cys) variant details
- p.Tyr86Cys
- UniProt VAR 012373
- Pathogenic
- Fabry disease
- Missense
- ClinVar: Pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. (PMID 9100224)
- Cited in: The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the… (PMID 10090526)