Summary of the effects of missense mutations in the MBD
| Mutation | Transcriptional repressive activity in SL2 cells | Nuclear staining in L929 cells | Phenotype | Reference |
|---|---|---|---|---|
| wt | Strong | Focal | Normal | |
| D97E | Moderate | Diffuse | RTT | 20 |
| D97Y | Moderate | Diffuse | RTT | 27 |
| L100V | Strong | Focal | RTT | 31 |
| P101H | Strong | Focal | RTT | 21 |
| P101L | Strong | Focal | RTT | 21 |
| P101R | Strong | Focal | RTT | 25 |
| P101S | Strong | Focal | RTT | 22 |
| P101T | Strong | Focal | RTT | 21 |
| R106Q | Weak | Diffuse | RTT | 26 |
| R106W | Weak | Diffuse | RTT | 2 |
| R111G | Weak | Diffuse | RTT | 29 |
| Y120D | Moderate | Focal + diffuse | RTT | 28 |
| L124F | Moderate | Diffuse | RTT | 24 |
| P127L | Strong | Focal | RTT | 30 |
| R133C | Strong | Focal | RTT | 2 |
| R133H | Strong | Focal | RTT | 27 |
| R133L | Moderate | Focal + diffuse | RTT | 23 |
| S134C | Strong | Focal | RTT | 19, 21 |
| K135E | Moderate | Focal + diffuse | RTT | 29 |
| E137G | Moderate | Focal | X linked mental retardation | 17 |
| A140V | Strong | Focal | X linked mental retardation | 16, 17 |
| P152R | Strong | Focal | RTT | 19 |
| F155I | Strong | Focal + diffuse | RTT | 20 |
| F155S | Weak | Diffuse | RTT | 2 |
| D156E | Weak | Diffuse | RTT | 18 |
| D156G | Weak | Diffuse | RTT | 29 |
| T158A | Strong | Focal + diffuse | RTT | 22 |
| T158M | Moderate | Focal + diffuse | RTT | 2, 32 |
| Encephalopathy in boy |