From: Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations
α-Gal Amutation
Enzymatic activity*
Immunohistochemical localisation
V269M
10
Lysosomes
D264Y
< 1
ER
V269M/D264Y
A143T
35
Q312H
5
A143T/Q312H