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Table 2 In vitro expression of the double missense mutations in COS-7 cells.

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

< 1

ER

A143T

35

Lysosomes

Q312H

5

ER

A143T/Q312H

< 1

ER

  1. * Expressed as % of mean wildtype activity. Abbreviation: ER = endoplasmic reticulum.