Table 5 Summary of all reported GNPTAB mutations in East Asian patients with ML II/III

Missense

c.992A > G

p.Tyr331Cys

9

This study

0.9% (1/120)

KOR

Missense

c.1001G > T

p.Arg334Leu

9

[15]

0.9% (1/120)

JPN

Missense

c.1120 T > C

p.Phe374Leu

10

[15]

6.7% (8/120)

JPN

Missense

c.2866C > T

p.His956Tyr

14

[15]

1.8% (2/120)

JPN

Missense

c.3458A > G

p.Asn1153Ser

19

[15]

0.9% (1/120)

JPN

Nonsense

c.310C > T

p.Gln104*

3

[13, 15], This study

5.3% (6/120)

KOR, JPN

Nonsense

c.1071G > A

p.Trp357*

9

[16], This study

2.7% (3/120)

KOR, CHN

Nonsense

c.1090C > T

p.Arg364*

9

[16, 23], This study

5.9% (7/120)

KOR, CHN

Nonsense

c.2666 T > A

p.Leu889*

13

This study

0.9% (1/120)

KOR

Nonsense

c.2681G > A

p.Trp894*

13

[13, 15], This study

3.4% (4/120)

KOR, JPN

Nonsense

c.3091C > T

p.Arg1031*

15

[14]

0.9% (1/120)

KOR

Nonsense

c.3173C > G

p.Ser1058*

16

[13]

0.9% (1/120)

KOR

Nonsense

c.3565C > T

p.Arg1189*

19

[13, 15, 24], This study

32.5% (39/120)

KOR, JPN, CHN

Frameshift

c.471_472delTT

p.Tyr158Serfs*8

5

This study

0.9% (1/120)

KOR

Frameshift

c.914_915insA

p.Asp305fs

8

[15]

0.9% (1/120)

JPN

Frameshift

c.2089_2090insC

p.Leu697fs

13

[15]

1.8% (2/120)

JPN

Frameshift

c.2189delT

p.Leu730fs*7

13

This study

0.9% (1/120)

KOR

Frameshift

c.2422delC

p.Leu808fs*19

13

[24]

0.9% (1/120)

CHN

Frameshift

c.2427delC

p.Leu810fs

13

[15]

0.9% (1/120)

JPN

Frameshift

c.2544delA

p.Lys848fs

13

[15]

1.8% (4/120)

JPN

Frameshift

c.2574_2575delGA

p.Asn859Glnfs*2

13

[13], This study

2.5% (3/120)

KOR

Frameshift

c.2693delA

p.Lys898fs

13

[15]

0.9% (1/120)

JPN

Frameshift

c.3310delG

p.Ala1104fs

17

[15]

0.9% (1/120)

JPN

Frameshift

c.3388_3389insC + c.3390C > T

p.Val1130fs

18

[15]

0.9% (1/120)

JPN

Frameshift

c.3428_3429insA

p.Asn1143fs

18

[15]

0.9% (1/120)

JPN

Frameshift

c.3456_3459dupCAAC

p.Ile1154Glnfs*3

19

[14]

0.9% (1/120)

KOR

Frameshift

c.3474_3475delTA

p.His1158fs*15

19

[13]

0.9% (1/120)

KOR

Frameshift

c.3741_3744delAGAA

p.Glu1248fs

21

[15]

0.9% (1/120)

JPN

Frameshift

duplication exon2

Frameshift

2

[15]

5.0% (6/120)

JPN

Splicing

c.637-6 T > G

p.Thr213Phefs*11

IVS6

This study

1.8% (2/120)

KOR

Splicing

c.2715 + 1G > A

-

IVS13

[13, 15, 23]

7.5% (9/120)

KOR, JPN, CHN