Mutations in the amon gene
| Mutant | Mutation | cDNA bp | Predicted effect |
|---|---|---|---|
| Q178st | CAG → TAG | 968 | Gln 178 → Stop |
| Q507sa | ag → aa (intron) | NA | Incorrect splicing |
| E601sa | ag → aa (intron) | NA | Incorrect splicing |
| C241Y | TGT → TAT | 1158 | Cys 241 → Tyr |
| C245Y | TGC → TAC | 1197 | Cys 254 → Tyr |
| G367V | GGC → GTC | 1536 | Gly 367 → Val |
| G473R | GGG → AGG | 1853 | Gly 473 → Arg |
| S557L1 | TCG → TTG | 2106 | Ser 557 → Leu |
| S557L2 | TCG → TTG | 2106 | Ser 557 → Leu |
NA, not applicable.