Table 1.
Mutation | Frequency (%), all | Frequency (%), Australia | Frequency (%), InterRett |
---|---|---|---|
C-terminal deletions | 79 (9.5%) | 19 (10.6%) | 60 (9.2%) |
Early truncation | 36 (4.3%) | 6 (3.3%) | 30 (4.5%) |
Large deletions | 44 (5.2%) | 14 (7.8%) | 30 (4.5%) |
Other | 100 (12.0%) | 20 (11.2%) | 80 (12.2%) |
p.R106W | 31 (3.7%) | 7 (3.9%) | 24 (3.6%) |
p.R133C | 56 (6.7%) | 13 (7.3%) | 43 (6.5%) |
p.R168X | 91 (10.9%) | 19 (10.6%) | 72 (11%) |
p.R255X | 99 (11.8%) | 14 (7.8%) | 85 (12.9%) |
p.R270X | 64 (7.6%) | 15 (8.4%) | 49 (7.4%) |
p.R294X | 62 (7.4%) | 18 (10.1%) | 44 (6.7%) |
p.R306C | 62 (7.4%) | 12 (6.7%) | 50 (7.6%) |
p.T158M | 108 (12.9%) | 21 (11.7%) | 87 (13.3%) |
Total | 832 | 178 | 654 |