Table 1 BTK gene mutations detected in 29 XLA patients

BTK 14

PH

2

AAA/TAA 187

K19

Lys→Stop

BTK 26

PH

2

CGC/CAC 215

R28

Arg→His

BTK 27

PH

2

CGC/CAC 215

R28

Arg→His

BTK 10

PH

2

TAC/TCC 248

Y39

Tyr→Ser

BTK 34

PH

6

534 C del

R 134

Frameshift

BTK 19

TH

7

654–655 T ins

L175

Frameshift

BTK 39

TH

7

688 A ins

K 185

Frameshift

BTK 40

TH

8

CGA/TGA 895

R255

Arg→Stop

BTK 18

SH2

11

CAA/TAA 1109

Q293

Gln→Stop

BTK 25

SH3

9

CAG/TAG 911

Q260

Gln→Stop

BTK 4

KIN

15

1599–1602 GCGC del

R490/H491

Frameshift

BTK 51

KIN

15

TGT/TAT 1649

C506Y

Cys→Tyr

BTK 61

KIN

15

TGT/TAT 1649

C506Y

Cys→Tyr

BTK 35

KIN

15

CTG/CCG 1667

L512

Leu→Pro

BTK 36

KIN

15

CTG/CCG 1667

L512

Leu→Pro

BTK 37

KIN

15

CTG/CAG 1667

L512

Leu→Gln

BTK 22

KIN

-

G/T

(522)

Splice-donor defect (+1)

BTK 28

KIN

16

CGA/CCA 1706

R525

Arg→Pro

BTK 52

KIN

16

1712–1713 TG del

C527

Frameshift

BTK 49

KIN

16

AGG/GGG1763

R544

Arg→Gly

BTK 50

KIN

16

AGG/GGG1763

R544

Arg→Gly

BTK 38

KIN

17

TGT/TAT 1866

S578

Ser→Tyr

BTK 29

KIN

18

GAA/AAA 1897

E589

Glu→Lys

BTK 5

KIN

18

GGG/CGG 1912

G594

Gly→Arg

BTK 12

KIN

18

GGG/GAG 1913

G594

Gly→Glu

BTK 13

KIN

18

GGG/GAG 1913

G594

Gly→Glu

BTK 33

KIN

18

GGG/GAG 1913

G594

Gly→Glu

BTK 7

KIN

18

2037–2038 TTTTAG ins

635FB636

In frame insertion

BTK 8

KIN

19

CGT/TGT 2053

R641

Arg→Cys