Table 4 GNPTAB mutations in 13 Korean patients with ML II/III

Missense

9

c.992A > G

p.Tyr331Cys

1

This study

Nonsense

3

c.310C > T

p.Gln104*

2

[13], This study

Nonsense

9

c.1071G > A

p.Trp357*

1

This study

Nonsense

9

c.1090C > T

p.Arg364*

1

This study

Nonsense

13

c.2666 T > A

p.Leu889*

1

This study

Nonsense

13

c.2681G > A

p.Trp894*

2

[13], This study

Nonsense

15

c.3091C > T

p.Arg1031*

1

[14]

Nonsense

16

c.3173C > G

p.Ser1058*

1

[13]

Nonsense

19

c.3565C > T

p.Arg1189*

5

[13], This study

Frameshift

5

C.471_472delTT

p.Tyr158Serfs*8

1

This study

Frameshift

13

c.2189delT

p.Leu730fs*7

1

This study

Frameshift

13

c.2574_2575delGA

p.Asn859Glnfs*2

3

[13], This study

Frameshift

19

c.3456_3459dupCAAC

p.Ile1154Glnfs*3

1

[14]

Frameshift

19

c.3474_3475delTA

p.His1158fs*15

1

[13]

Splicing

IVS6

c.637-6 T > G

p.Thr213Phefs*11

2

This study

Splicing

IVS13

c.2715 + 1G > A

-

2

[13]