Table 1.
Most abundant TTR mutations and their clinical manifestations
| Mutation | Sensory neuropathy | Motor neuropathy | Gastrointestinal symptoms | Cardiac complications |
|---|---|---|---|---|
| V30M |
707 (89.5%) |
305 (38.6%) |
547 (69.3%) |
212 (26.9%) |
| V122I |
35 (60.3%) |
11 (19.0%) |
16 (27.1%) |
57 (96.6%) |
| S50R |
26 (89.7%) |
16 (55.2%) |
19 (65.5%) |
13 (44.8%) |
| E89Q |
21 (95.5%) |
10 (45.5%) |
13 (68.4%) |
13 (65.0%) |
| T60A |
16 (80.0%) |
5 (25.0%) |
8 (40.0%) |
19 (90.5%) |
| F64L |
18 (90.0%) |
11 (55.0%) |
10 (50.0%) |
7 (35.0%) |
| S77Y |
16 (94.1%) |
8 (47.1%) |
12 (70.6%) |
9 (52.9%) |
| I68L |
7 (46.7%) |
6 (40.0%) |
2 (13.3%) |
13 (86.7%) |
| I107V |
10 (83.3%) |
9 (75.0%) |
7 (58.3%) |
8 (66.7%) |
| G47A |
8 (72.7%) |
2 (18.2%) |
2 (18.2%) |
1 (9.1%) |
| L111M | 1 (10.0%) | 0 (0.0%) | 1 (10.0%) | 7 (70.0%) |
Mutations carried by ten individuals or more listed in a descending order.