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Table 4 Conservation of novel missense mutations in α-Gal A and α-Gal B orthologues.

From: Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

 

Eukaryotic (22)

Mammalian (4)

α-Gal B

orthologues (8)

Conservation score*

N34K

13

3

7

++

T41I

1

3

0

-

D93V

18

3

8

+++

R112S

5

3

7

+

L166G

4

3

0

-

G171D

7

3

8

+

M187T

16

4

5

++

S201F/Y

15

4

8

++

D234E

13

3

6

++

W236R

13

3

7

++

D264Y

20

3

8

+++

M267R

14

3

7

++

V269M

3

3

1

-

G271V/S

21

3

7

+++

S276G

11

3

7

++

Q283P

7

3

7

+

A285P/D

9

3

7

+

M290I

10

3

1

+

P293T

17

3

8

+++

Q312H

5

3

6

+

Q321R

20

3

8

+++

G328V

9

3

7

+

E338K

14

3

6

++

A348P

1

3

6

+

E358A

3

3

1

-

Q386P

3

3

6

+

  1. * For the degree of evolutionary conservation:-, minimal, if any conservation; +, conserved in three of four α-Gal A mammalian orthologues and six of eight α-Gal B, or five of 22 α-Gal A eukaryotic orthologues; ++, additionally, conserved among 11-16 (50-73%) of 22 α-Gal A eukaryotic orthologues; +++, additionally, conserved among at least 17 (77%) of 22 α-Gal A eukaryotic orthologues.