Table 3 Summary of all SEC23B mutations in CDAII patients, predicted effect on protein and allelic frequencies

2

c.40 C > T

p.Arg14Trp

Missense

48 (19)

[11]

2-3

c.221+31 A > G

-

Splice-site change*

2 (0.8)

[14]

2

c.53 G > A

p.Arg18His

Missense

3 (1.2)

[11]

2

c.197 G > A

p.Cys66Tyr

Missense

1 (0.4)

[17]

3

c.235 C > T

p.Arg79X

Non-sense

3 (1.2)

[11]

3-4

c.279 +3 A > G

-

Splice-site change

1 (0.4)

[14]

3-4

c.222-817_366+4242del

-

Frame-shift

1 (0.4)

[11]

4

c.325 G > A

p.Glu109Lys

Missense

81 (32)

[11]

5

c.367 C > T

p.Arg123X

Non-sense

2 (0.8)

[14]

5

c.387(delG)

p.Leu129LeufsX26

Frame-shift

1 (0.4)

[14]

5

c.428delAinsCG

-

Frame-shift

1 (0.4)

[10]

5

c.568 C > T

p.Arg190X

Non-sense

1 (0.4)

[10]

6

c.640 C > T

p.Gln214X

Non-sense

1 (0.4)

Present study

6

c.649 C > T

p.Arg217X

Non-sense

4 (1.6)

[10]

6-7

c.689+1G > A

-

Splice-site change

4 (1.6)

[10]

7

c.716 A > G

p.Asp239Gly

Missense

3 (1.2)

[11]

7

c.790 C > T

p.Arg264X

Non-sense

3 (1.2)

[11]

8

c.938 G > A

p.Arg313His

Missense

4 (1.6)

[11]

8

c.953 T > C

p.Ile318Thr

Missense

6 (2.4)

[11]

8

c.970 C > T

p.Arg324X

Non-sense

2 (0.8)

[11]

9

c.1015 C > T

p.Arg339X

Non-sense

3 (1.2)

[14]

9

c.1043 A > C

p.Asp348Ala

Missense

1 (0.4)

[10]

9

c.1063delG

-

Frame-shift

1 (0.4)

[11]

9-10

c.1109 +5 G > A

-

Splice-site change

1 (0.4)

[14]

9-10

c.1190 +1 G > A

-

Splice-site change

1 (0.4)

[14]

10

c.1157 A > T

p.Gln353Leu

Missense

1 (0.4)

[11]

10

c.1201 C > T

p.Arg401X

Non-sense

1 (0.4)

[11]

11

c.1254 T > G

p.Ile418Met

Missense

3 (1.2)

[14]

11

c.1276 G > A

p.V426I Poly

Missense

2 (0.8)

[11]

11

c.1307 C > T

p.Ser436Leu

Missense

1 (0.4)

[14]

12

c.1385 A > G

p.Tyr462Cys

Missense

6 (2.4)

[11]

13

c.1453 A > G

p.Thr485Ala

Missense

1 (0.4)

Present study

13

c.1489 C > T

p.Arg497Cys

Missense

9 (3.6)

[10]

13

c.1508 G > A

p.Arg503Gln

Missense

1 (0.4)

[18]

14

c.1571 C > T

p.Ala524Val

Missense

5 (2)

[11]

14

c.1588 C > T

p.Arg530Trp

Missense

1 (0.4)

[11]

14

c.1589 G > A

p.Arg530Gln

Missense

2 (0.8)

[18]

14

c.1603 C > T

p.Arg535X

Non-sense

2 (0.8)

[14]

14

c.1648 C > T

p.Arg550X

Non-sense

4 (1.6)

[18]

14

c.1654 C > T

p.Leu552Phe

Missense

1 (0.4)

[14]

14

c.1660 C > T

p.Arg554X

Non-sense

2 (0.8)

[10]

15

c.1685 A > G

p.Tyr562Cys

Missense

1 (0.4)

[18]

15

c.1733 T > C

p.Leu578Pro

Missense

2 (0.8)

[14]

15

c.1735 T > A

p.Tyr579Asn

Missense

1 (0.4)

[14]

16

c.1808 C > T

p.Ser603Leu

Missense

1 (0.4)

[10]

16

c.1821delT

-

Frame-shift

3 (1.2)

[10]

16

c.1832 G > C

p.Arg611Pro

Missense

1 (0.4)

[14]

16

c.1858 A > G

p.Met620Val

Missense

2 (0.8)

[14]

16

c.1857_1859delCAT

p.Ile619del

In frame deletion**

2 (0.8)

[14]

17

c.1910 T > G

p.Val637Gly

Missense

1 (0.4)

Present study

17

c.1962-64delT

p.Thr654ThrfsX13

Frame-shift

1 (0.4)

[18]

17

c.1968 T > G

p.Phe656Leu

Missense

1 (0.4)

[18]

18

c.2101 C > T

p.Arg701Cys

Missense

9 (3.6)

[10]

18

c.2129 C > T

p.Thr710Met

Missense

1 (0.4)

[13]

18-19

c.2149 -2 A > G

-

Splice-site change

2 (0.8)

[14]

19

c.2150(delC)

p.Ala717ValfsX7

Frame-shift

1 (0.4)

[14]

19

c.2166 A > C

p.Lys723Gln

Missense

1 (0.4)

[18]

19

c.2180 C > T

p.Ser727Phe

Missense

1 (0.4)

Present study

20

c.2270 A > C

p.His757Pro

Missense

1 (0.4)

[14]