Table 2.
Mutations in 538 EC patients
| Gene variation | n | Proportion % | Amino acid variation | Domain |
|---|---|---|---|---|
| 375 nt: A → G | 21 | 3.90 | 88 aa: I → V | 8kD domain |
| 454 nt: T → C | 19 | 3.53 | 114 aa: F → S | Thumb domain |
| 462 nt: G → T | 12 | 2.23 | 117 aa: E → termination mutation | Thumb domain |
| 466 nt: G → A | 32 | 5.95 | 118 aa: G → E | Thumb domain |
| 613 nt: A → T | 18 | 3.35 | 167 aa: K → I | Palm domain |
| 648 nt: G → C | 20 | 3.72 | 179 aa: G → R | Palm domain |
| 660 nt: A → G | 27 | 5.02 | 183 aa: R → G | Palm domain |
| 665 nt: T → C | 8 | 1.49 | 184 aa: G → G | Palm domain |
| 676 nt: G → A | 15 | 2.79 | 188 aa: S → N | Palm domain |
| 737 nt: A → T | 6 | 1.12 | 208 aa: P → P | Palm domain |
| 740 nt: A → G | 9 | 1.67 | 209 aa: K → K | Palm domain |
| 832 nt: A → G | 11 | 2.04 | 240 aa: Q → R | Palm domain |
| 853 nt: A → G | 7 | 1.30 | 247 aa: E → G | Palm domain |
| 854nt: A → C, and 855nt: A → C | 12 | 2.23 | 247 aa: E → D, and 248 aa: K → Q | Palm domain |
| 177–234 nt: deletion | 12 | 2.23 | 22 aa: frameshift mutation; 26 aa: termination mutation |
8kD domain |
| Total | 229 | 42.57 | – | – |
GenBank Acc# M13140.1