Table 1 α-Gal A mutations in 66 unrelated probands with classic Fabry disease.

Novel mutations:

Missense

1

102T > G

N34K

1

122C > A

T41I

2

278A > T

D93V

2

334C > A

R112S

3

496_497CT > GG

L166G

3

512G > A

G171D

4

560T > C

M187T

4

602C > A

S201Y

4

602C > T

S201F

5

702T > G

D234E

5

706T > C

W236R

5

790G > T

D264Y*

5

800T > G

M267R

6

805G > A

V269M*

6

811G > A

G271S

6

812G > T

G271V

6

826A > G

S276G

6

848 A > C

Q283P

6

853G > C

A285P

6

854C > A

A285D

6

870G > A

M290I

6

877C > A

P293T

6

936G > T

Q312H*

6

962A > G

Q321R

6

983G > T

G328V

7

1012G > A

E338K

7

1042G > C

A348P

7

1073A > C

E358A

7

1157A > C

Q386P

Nonsense

1

168C > A

C56X

2

235G > T

E79X

3

379A > T

K127X

3

453C > G

Y151X

3

519C > A

Y173X

3

530T > A

L177X

5

785G > A

W262X

6

916C > T

Q306X

7

1012G > T

E338X

Deletions

1

18delA

E7 fs

2

Ex2del

3

457_459delGAC

D153del

4

567delG

A190fs

7

1096_1100delACCAT

T366fs

Insertion

6

996insC

Complex

7

1121A > G,1124delGAG

K374R, G375 fs

Splicing defects

IVS4 acceptor

640-1G > A

IVS4-1G > A

IVS5 donor

801+3A > G

IVS5+3A > G

IVS5 donor

801+4A > G

IVS5+4A > G

IVS5 acceptor

802-2A > G

IVS5-2A > G

IVS6 acceptor

1000-1G > C

IVS6-1G > C

Previously reported mutations:

Missense

1

92C > T

A31V

2

334C > T

R112C

3

401A > C

Y134S

< 0.1

3

427G > A

A143T*

5

776C > G

P259R

6

983G > C

G328A

7

1241T > C

L414S

Nonsense

3

456C > A

Y152X

3

469C > T

Q157X

5

661C > T

Q221X

5

677G > A

W226X

5

679C > T

R227X

7

1024C > T

R342X

Deletions

1

26delA

H9 fs

7

1031_1032delTC

S345 fs

7

1209_1211delAAG

R404del

7

1235_1236delCT

T412 fs