Table 2.
hPRCD sequence changes observed in heterozygous (het) or homozygous (hom) state in patients with RP, Leber Congenital Amaurosis (LCA), cone-rod dystrophy (CRD), Usher syndrome (USH), and normal Caucasian (NML) and India/Pakistan (I/P NML) control populations.
| Disorder | RP | LCA | CRD | USH | NML | I/P NML | ||
|---|---|---|---|---|---|---|---|---|
| Patient/control numbers | 1,241 | 283 | 224 | 115 | 166 | 49 | ||
| Position | Sequence change | aa change | ||||||
| −106 het | C→T | 1 | 0 | 0 | 0 | 0 | 0 | |
| −40U het | T→C | 1 | 0 | 0 | 0 | 0 | 0 | |
| 5 hom | TGC→TAC | Cys2Tyr | 1 | 0 | 0 | 0 | 0 | 0 |
| 49 het | CGC→TGC | Arg17Cys | 1 | 0 | 0 | 0 | 0 | 5 |
| 88 het | GTG→ATG | Val30Met | 1 | 0 | 0 | 0 | 0 | 0 |
| *57U het | C→G | 1 | 0 | 0 | 0 | 0 | 0 | |
| *80 het | G→A | 1 | 0 | 0 | 0 | 0 | 0 | |