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Table 4 Specific activity of GAA mutants in transiently transfected COS-7 cells and severity rating

From: Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

Variant

GAA activitya

Severity rating

Medium

Cell lysates

M110

C110

C95

C76

M%Wt

C%Wt

Class

Wild type

60.5

631.3 (± 44.5)

4,4

4,4

4,4

4,4

100

100

-

p.Ala261Thr

3.31

478.3

3,4

4,4

4,4

4,4

5.47

75.8

D/E

p.Tyr292X

0

0

1,1

2,4

2,4

2,4

0

0

B

p.Asp513Gly

0

4.8

1,1

3,4

2,4

2,4

0

0.76

B

p.Leu632Arg

0.05

0.1

1,1

3,4

2,4

2,4

0.83

0.02

B

  1. aSpecific activity of the wild type GAA and its mutants in transiently transfected COS-7 cells (nmol 4-MU/hr/mg protein). M%Wt and C%Wt mean the relative GAA activity normalized by the wild type GAA activity of medium and cell lysates, respectively. M110, C110, C95, C76 are the GAA protein masses detected by western blotting at 100, 95, and 76 kDa from medium (M) and cell lysate (C), respectively. Two digit numbers indicate the quantity and quality of GAA protein; 4 represents as normal while 3, 2 and 1 mean lower quantity and quality of GAA protein, respectively
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BMC Medical Genetics

ISSN: 1471-2350

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