E59K (p.Glu59Lys) variant of GLA (Alpha-galactosidase A)
E59K (p.Glu59Lys) 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.
E59K (p.Glu59Lys) variant details
- p.Glu59Lys
- UniProt VAR 000440
- Pathogenic
- Fabry disease
- Missense
- ClinVar: Pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional… (PMID 7531540)
- Cited in: The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the… (PMID 10090526)