Polymorphisms and mutations found in nine unrelated patients
| Position in the cDNA | Position in the protein | Already described | Present in patients (No) | Present in homologues |
|---|---|---|---|---|
| Polymorphisms | ||||
| A759G | P253P | No | Control | Yes |
| T1119C | L373L | Yes8 | 6 and 8 | Yes |
| A2214G | Q738R | No | 5 | No |
| G2700A | P900P | Yes14,15 | 4 | No |
| C2730T | D910D | Yes14,15 | 4 | No |
| T3063C | G1021G | Yes14,15 | 3 | Yes |
| T4195C | W1399R | Yes14 | 3 | Yes |
| C4335A | V1445V | No | 4 | No |
| A4665C | A1555A | Yes14,15 | 3, 4, 5 | Yes |
| C6299T | S2029L | No | 7 | No |
| T7165C | L2389L | Yes15–17 | 3, 4, 5 | Yes |
| C7441T | L2472L | Yes15 | 3, 4 | No |
| T7708C | L2570L | Yes15 | 3 | Yes |
| G8545C | A2848A | No | 8 | No |
| A12130G | I4044V | Yes13,18–20,22 | 3, 4, 5 | No |
| IVS 44+19 delG | Yes13,18,19,22 | 6 | No | |
| A12273G | A4091A | Yes13,18,19 | 3, 4, 5 | No |
| Mutations | ||||
| IVS13-2 A>T | Frameshift L1054fsx1074 | Yes12 | 1 | No |
| IVS 44 +2 T>C | Del 4001-4045. 4001del46 | No | 4 | No |
| IVS 45 -14 T>C | Insertion 30 AA 4148-4149ins30 | No | 5 | No |
| 2986 Ins 4bp | Frameshift (1099) S995fsx1099 | No | 6 | No |
| G3961T | Q987H | No | 7 | No |
| 9412del3 | 3138 delV | No | 11 | No |