Table 4 Relative frequencies (%) of common PAH gene mutations detected in Asian and European populations.
Mutation | Asia | Europe | |||||||
|---|---|---|---|---|---|---|---|---|---|
East Asia | West Asia | East Europe | West Europe | South Europe | North Europe | ||||
Chinese n = 796 | Japan14 n = 203 | Korea8 n = 79 | Turkish18 n = 569 | Iran17 n = 124 | Czech28 n = 665 | German5 n = 226 | Serbian32 n = 179 | Dane4 n = 135 | |
p.R243Q | 17.53 | 5.40 | 12.00 | NA | 1.20 | 0.00 | 0.00 | 0.00 | 0.00 |
p.EX6-96A > G | 7.66 | 4.70 | 10.10 | NA | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 |
p.V399V | 5.84 | 1.20 | 0.00 | NA | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 |
p.R241C | 5.40 | 10.10 | 5.70 | NA | 0.00 | 0.15 | 0.00 | 0.00 | 0.00 |
p.R111* | 4.77 | 7.90 | 0.60 | NA | 0.00 | 0.00 | 0.00 | 2.60 | 0.30 |
p.Y356* | 4.46 | 1.70 | 5.70 | NA | 0.00 | 0.00 | 0.91 | 0.00 | 0.30 |
p.R413P | 4.33 | 24.10 | 3.20 | NA | 0.00 | 0.00 | 0.00 | 0.90 | 0.00 |
IVS4-1G > A | 3.77 | 8.90 | 10.10 | NA | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 |
p.A259T | 0.00 | 1.00 | 5.70 | NA | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 |
p.R252W | 0.25 | 4.40 | 0.00 | NA | 4.80 | 3.83 | 0.46 | 0.00 | 0.00 |
p.T278I | 0.19 | 4.20 | 3.20 | NA | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 |
p.Y325* | 0.57 | 0.00 | 3.20 | NA | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 |
p.V388M | 0.44 | 0.50 | 3.2 | NA | 0.00 | 0.15 | 0.00 | 0.00 | 0.30 |
p.L48S | 0.06 | 0.00 | 0.00 | 7.00 | 0.80 | 1.88 | 0.02 | 31.00 | 0.00 |
IVS2 + 5G > C | 0.19 | 0.00 | 0.00 | NA | 6.00 | 0.08 | 0.46 | 0.00 | 0.00 |
IVS4 + 5G > T | 0.00 | 0.00 | 0.00 | 3.00 | 0.80 | 0.53 | 0.91 | 0.00 | 0.00 |
p.R243* | 0.06 | 0.00 | 0.00 | NA | 6.90 | 2.71 | 2.05 | 1.70 | 0.00 |
p.R261Q | 1.26 | 0.00 | 0.60 | 8.70 | 12.10 | 1.58 | 3.88 | 3.40 | 1.60 |
p.R261* | 0.25 | 0.70 | 0.60 | NA | 4.80 | 0.08 | 0.00 | 1.70 | 0.00 |
p.P281L | 0.19 | 0.00 | 1.90 | 8.40 | 8.50 | 2.03 | 3.65 | 6.00 | 1.30 |
p.A300S | 0.00 | 0.00 | 0.00 | 5.00 | 0.40 | 0.98 | 0.46 | 0.00 | 0.00 |
IVS10-11G > A | 0.25 | 0.00 | 0.00 | 24.60 | 24.60 | 3.61 | 2.97 | 1.70 | 5.20 |
p.K363Nfs*37 | 0.13 | 0.00 | 0.00 | NA | 7.30 | 0.00 | 0.00 | 0.00 | 0.00 |
p.E390G | 0.00 | 0.00 | 0.00 | 4.10 | 0.00 | 0.23 | 0.91 | 5.20 | 0.00 |
IVS11 + 1G > C | 0.00 | 0.00 | 0.00 | NA | 8.50 | 0.08 | 0.46 | 0.00 | 0.00 |
p.R408W | 0.50 | 0.00 | 0.00 | 6.40 | 0.40 | 42.11 | 24.66 | 16.40 | 18.20 |
p.I65T | 0.75 | 0.00 | 0.00 | NA | 0.00 | 1.28 | 0.00 | 0.00 | 0.70 |
p.R158Q | 0.50 | 0.00 | 0.60 | NA | 0.00 | 4.14 | 4.57 | 3.40 | 2.90 |
p.R270K | 0.00 | 0.00 | 0.00 | NA | 0.00 | 0.45 | 0.00 | 0.00 | 0.00 |
p.E280K | 0.50 | 0.00 | 0.00 | NA | 0.80 | 0.00 | 0.00 | 0.00 | 2.90 |
p.I306V | 0.00 | 0.00 | 0.00 | NA | 0.00 | 1.73 | 0.46 | 5.20 | 0.00 |
p.A403V | 0.13 | 0.20 | 0.00 | NA | 0.00 | 5.11 | 5.71 | 1.70 | 0.00 |
p.Y414C | 0.00 | 0.00 | 0.00 | NA | 0.00 | 1.58 | 4.57 | 1.70 | 10.10 |
IVS12 + 1G > A | 0.00 | 0.00 | 0.00 | NA | 0.00 | 2.48 | 10.27 | 2.60 | 37.30 |
