Table 2 BTK gene mutations in 22 XLA patients from 22 unrelated families

F1

P1

Exon 2

PH

c.23G > T ^a

S8I

missense mutation

NE

A

F2

P2

Exon 2

PH

c.83G > A

R28H

missense mutation

NE

A

F3

P3

Exon 2

PH

c.112 T > C ^a

S38P

missense mutation

NMD

B

F4

P4

Exon 2

PH

c.126 T > G

Y42*

nonsense mutation

carrier

C

F5

P5

Exon 6

TH

c.460 T > C

C154R

missense mutation

carrier

D

F6

P6

Intron 6

TH

c.520 + 5G > A

Splicing

Splicing

NE

…

F7

P7

Exon 7

Proline rich

c.522_523insC ^a

P177Tfs*17

FS (stop)

carrier

E

F8

P8

Exon 8

SH3

c.763C > T

R255*

nonsense mutation

NMD

F

F9

P9

Exon 10

SH2

c.862C > T

R288W

missense mutation

carrier

D

F10

P10

Exon 11

SH2

c.922_923delGA ^b

D308Lfs*14

FS (stop)

NE

G

F11

P11

Exon 12

SH2

c.1060delA ^{a b}

T354Pfs*49

FS (stop)

carrier

H

F12

P12

Exon 13

SH2

c.1117C > A

L373I

missense mutation

carrier

I

F13

P13

Exon 14

Kinase

c.1184G > A

W395*

nonsense mutation

NE

J

F14

P14

Exon 15

Kinase

c.1439delG

G480Afs*4

FS (stop)

carrier

C

F15

P15

Intron 16

Kinase

c.1631 + 1G > T ^b

Splicing

Splicing

carrier

H

F16

P16

Intron 16

Kinase

c.1631 + 2 T > C ^a

Splicing

Splicing

NE

K

F17

P17

Exon 17

Kinase

c.1679delC

P560Qfs*10

FS (stop)

carrier

L

F18

P18

Exon 17

Kinase

c.1684C > T ^b

R562W

missense mutation

carrier

M

F19

P19

Exon 18

Kinase

c.1901G > A

W634*

nonsense mutation

carrier

C

F20

P20

Exon 19

Kinase

c.1931 T > C ^b

F644S

missense mutation

carrier

N

F21

P21

…

…

Deletion of exon 2 to 5 ^{a b}

large deletion

large deletion

carrier

H

F22

P22

…

…

Deletion of exon 6 to 10

large deletion

large deletion

carrier

O