Mutations of MECP2 identified in patients with RTT
| Mutation type | DNA change | Predicted protein change | No of patients |
| Missense | C391T | R106W | 1 |
| G447C | L124F | 1 | |
| C472T | R133C | 3 | |
| C476G | S134C | 1 | |
| C530G | P152R | 3 | |
| C548T | T158M | 5 | |
| C991T | R306C | 5 | |
| Nonsense | C577T | R168X | 5 |
| C883T | R270X | 3 | |
| C956T | R294X | 4 | |
| Frameshift and stop | 450(C) | 1 bp deletion | 1 |
| 770(G) | 1 bp deletion | 1 | |
| 771(C) | 1 bp deletion | 1 | |
| 829-832(GGCA) | 4 bp deletion | 1 | |
| 882(C) | 1 bp deletion | 1 |
DNA sequence cited from Gen Bank accession number AJ132917.