Table 2 GBA genotype distribution in type 2 GD
From: Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula
Genotype | Frequency | Percent |
|---|---|---|
[E326K;L444P]/R463H | 3 | 10.7 |
L444P/G195E | 3 | 10.7 |
L444P/c.1263_1317del55 | 3 | 10.7 |
D409H/R120W | 2 | 7.1 |
[E326K;L444P]/[E326K;L444P] | 2 | 7.1 |
L444P/L444P | 2 | 7.1 |
L444P/R120W | 2 | 7.1 |
[E326K;L444P]/G202R | 1 | 3.6 |
[E326K;L444P]/W312R | 1 | 3.6 |
G389E/unknown | 1 | 3.6 |
[E326K;L444P]/L444P | 1 | 3.6 |
L444P/G202R | 1 | 3.6 |
L444P/I270P | 1 | 3.6 |
L444P/RecNciI | 1 | 3.6 |
L444P/S364R | 1 | 3.6 |
L444P/c.203_204insC | 1 | 3.6 |
N392I/L444P | 1 | 3.6 |
V15M/G195W | 1 | 3.6 |
D409H/R120W | 2 | 7.1 |
[E326K;L444P]/[E326K;L444P] | 2 | 7.1 |
L444P/L444P | 2 | 7.1 |
L444P/R120W | 2 | 7.1 |
[E326K;L444P]/G202R | 1 | 3.6 |
[E326K;L444P]/W312R | 1 | 3.6 |
G389E/unknown | 1 | 3.6 |
[E326K;L444P]/L444P | 1 | 3.6 |
L444P/G202R | 1 | 3.6 |
L444P/I270P | 1 | 3.6 |
L444P/RecNciI | 1 | 3.6 |
L444P/S364R | 1 | 3.6 |
L444P/c.203_204insC | 1 | 3.6 |
N392I/L444P | 1 | 3.6 |
V15M/G195W | 1 | 3.6 |
Total | 28 |