Table 1.
Mechanistic classification of studied mutations
| Mutation | n | Mechanistic classification | Evidence | Reference |
|---|---|---|---|---|
| SRSF2 | ||||
| S54A | 1 | Partial phenocopy of P95 | Cell line + patient | This study |
| S54F | 1 | Partial phenocopy of P95 | Cell line + patient | This study |
| R86_G93dup | 1 | Phenocopy of P95 | Cell line | This study |
| R94_P95insR | 11 | Phenocopy of P95 | Cell line + patient | This study |
| P95H | 448 | Hotspot | Cell line + patient | (Previously studied) |
| P95L | 280 | Hotspot | Cell line + patient | (Previously studied) |
| P95R | 168 | Hotspot | Cell line + patient | (Previously studied) |
| P95_R102del | 79 | Phenocopy of P95 | Cell line + patient | This study |
| P05_R102del + P107H | 7 | Phenocopy of P95 | Cell line | This study |
| P107H | 7 | Silent | Cell line | This study |
| H99L | 2 | Silent | Cell line | This study |
| U2AF1 | ||||
| I24T | 5 | Dual phenocopy of S34 and Q157 (likely) | Cell line + patient | This study |
| I24V | 1 | Phenocopy of S34 (likely) | Cell line | This study |
| S34F | 308 | Hotspot | Cell line + patient | (Previously studied) |
| S34Y | 92 | Hotspot | Cell line + patient | (Previously studied) |
| R156H | 30 | Phenocopy of Q157 | Cell line + patient | This study |
| R156Q | 2 | Silent | Cell line | This study |
| Q157R | 66 | Hotspot | Cell line + patient | (Previously studied) |
| Q157P | 121 | Hotspot | Cell line + patient | (Previously studied) |
| E159_M160insYE | 8 | Phenocopy of Q157 | Cell line + patient | This study |
| S34F + Q157R | 1 | Dual phenocopy of S34 and Q157 | Cell line | This study |
Classification inferred from exonic splicing enhancer preferences and 3′ splice site preferences associated with each mutation. The consequences of hotspot (bold) SRSF2 and U2AF1 mutations were previously studied by several groups.20-23,54
n, number of times that each mutation has been reported in COSMIC.