Table 4 Frequencies of GBA pathogenic variants in Thai Gaucher disease and other ethnicities
From: Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients
Mutant allele | Chinese [13] | Japanese [4] | Korean [6] | Indian [22] | Jewish [11] | Non-Jewish [11] | |
|---|---|---|---|---|---|---|---|
p.L483P (L444P) | 41 (60.3%) | 21 (47.7%) | 41 (41%) | 15 (20.8%) | 40 (69%) | 6 (3.9%) | 29 (39.2%) |
IVS2+1G>A | 4 (5.8%) | 1 (2.3%) | 1 (1%) | 1 (1.4%) | 0 (0%) | 4 (2.6%) | 1 (1.4%) |
Rec1 | 2 (2.9%) | 3 (6.8%) | 0 (0%) | 2 (2.8%) | 0 (0%) | 0 (0%) | 0 (0%) |
IVS6−1G>C | 4 (5.8%) | 2 (4.5%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
IVS9−3C>G | 3 (4.4%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
IVS7+1G>A | 1 (1.5%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
p.F252I (F213I) | 2 (2.9%) | 0 (0%) | 14 (14%) | 9 (12.5%) | 0 (0%) | 0 (0%) | 0 (0%) |
p.R159W (R120W) | 1 (1.5%) | 1 (2.3%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
p.A175G (A136G) | 1 (1.5%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
p.P305A (P266A) | 1 (1.5%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
p.N409S (N370S) | 1 (1.5%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 107 (70.3%) | 20 (27%) |
p.V414L (V375L) | 1 (1.5%) | 2 (4.5%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
p.D448H (D409H) | 1 (1.5%) | 2 (4.5%) | 5 (5%) | 1 (1.4%) | 4 (6.9%) | 0 (0%) | 1 (1.4%) |
p.S384F + p.W533* | 1 (1.5%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
p.N227K (N188K) | 1 (1.5%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
p.Y402H | 1 (1.5%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
p.X537A | 1 (1.5%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
Others | 0 (0%) | 12 (27.2%) | 23 (23%) | 44 (61.1%) | 14 (24.1%) | 29 (19%) | 5 (6.8%) |
Unidentified | 2 (2.9%) | 0 (0%) | 16 (16%) | 0 (0%) | 0 (0%) | 6 (4%) | 18 (24.3%) |
Total | 68 (100%) | 44 (100%) | 100 (100%) | 72 (100%) | 58 (100%) | 152 (100%) | 74 (100%) |