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Table 1 Most abundant TTR mutations and their clinical manifestations

From: THAOS: Gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease

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%)
  1. Mutations carried by ten individuals or more listed in a descending order.