Skip to main content

Table 1 GBA genotype distribution in type 1 GD

From: Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

Genotype

Frequency

Percent

N370S/L444P

117

31.6

N370S/N370S

62

16.8

N370S/c.84insG

10

2.7

G377S/D409H

10

2.7

N370S/G202R

9

2.4

N370S/c.1263_1317del55

8

2.2

N370S/R120W

6

1.6

N370S/G195W

5

1.3

N370S/Rec all gene

5

1.3

N370S/RecNciI

5

1.3

N370S/T134P

5

1.3

N396T/N396T

5

1.3

G377S/G377S

4

1.1

N370S/G377S

4

1.1

N370S/N396T

4

1.1

N370S/R47X

4

1.1

N370S/RecTL

4

1.1

N370S/Y313H

4

1.1

N370S/F109V

3

< 1

N370S/L336P

3

< 1

N370S/[N188S;E326K]

3

< 1

N370S/P391L

3

< 1

N370S/R163X

3

< 1

N370S/R257X

3

< 1

N370S/R463C

3

< 1

N370S/[c.(-203)A > G;IVS4-2a > g]

3

< 1

N370S/c.500insT

3

< 1

N370S/[E326K;L444P]

2

< 1

N370S/G325W

2

< 1

N370S/IVS2+1

2

< 1

N370S/M123T

2

< 1

N370S/[RecNciI;c.1263_1317del55]

2

< 1

N370S/V15M

2

< 1

N370S/V191G

2

< 1

N370S/W(-4)X

2

< 1

N370S/Y412H

2

< 1

N370S/c.1439_1445del7

2

< 1

D409H/[N188S;E326K]

1

< 1

H311R/R359Q

1

< 1

L444P/G377S

1

< 1

L444P/L444P

1

< 1

N370S/G113E

1

< 1

N370S/IVS5+1 g > t

1

< 1

N370S/M123K

1

< 1

N370S/N188S

1

< 1

N370S/Q169X

1

< 1

N370S/R257Q

1

< 1

N370S/RecTL

4

1.1

N370S/Y313H

4

1.1

N370S/F109V

3

< 1

N370S/L336P

3

< 1

N370S/[N188S;E326K]

3

< 1

N370S/P391L

3

< 1

N370S/R163X

3

< 1

N370S/R257X

3

< 1

N370S/R463C

3

< 1

N370S/[c.(-203)A > G;IVS4-2a > g]

3

< 1

N370S/c.500insT

3

< 1

N370S/[E326K;L444P]

2

< 1

N370S/G325W

2

< 1

N370S/IVS2+1

2

< 1

N370S/M123T

2

< 1

N370S/[RecNciI;c.1263_1317del55]

2

< 1

N370S/V15M

2

< 1

N370S/V191G

2

< 1

N370S/W(-4)X

2

< 1

N370S/Y412H

2

< 1

N370S/c.1439_1445del7

2

< 1

D409H/[N188S;E326K]

1

< 1

H311R/R359Q

1

< 1

L444P/G377S

1

< 1

L444P/L444P

1

< 1

N370S/G113E

1

< 1

N370S/IVS5+1 g > t

1

< 1

N370S/M123K

1

< 1

N370S/N188S

1

< 1

N370S/Q169X

1

< 1

N370S/R257Q

1

< 1

N370S/R285C

1

< 1

N370S/R359Q

1

< 1

N370S/R359X

1

< 1

N370S/R395C

1

< 1

N370S/Rec(int2)

1

< 1

N370S/[RecTL;c.1263_1317del55]

1

< 1

N370S/S364R

1

< 1

N370S/W(-4X)

1

< 1

N370S/W184R

1

< 1

N370S/[c.(-203)A > G;P182L]

1

< 1

N370S/[c.(-203)A > G;P391L]

1

< 1

N370S/c.1097_1098delGC

1

< 1

N370S/c.1451_452delAC

1

< 1

N370S/c.1510_1512delTCT

1

< 1

N370S/c.708delC

1

< 1

N370S/c.838delT

1

< 1

R496H/R496H

1

< 1

unknown/unknown

2

< 1

[E326K;L444P]/unknown

1

< 1

N370S/unknown

22

5.9

Total

370