Identified mutations in the XLRS1 pedigrees
| Pedigree | Exon | Mutation | Protein |
|---|---|---|---|
| *New mutation. | |||
| 70 | 5 | 336 G->T | Trp 112Cys |
| 140 | 5 | 336 G->T | Trp 112Cys |
| 80 | 6 | 533 G->A | Gly178Asp |
| 93 | 4 | 214 G->A | Glu 72 Lys |
| 180 | 4 | 214 G->A | Glu 72 Lys |
| 101 | 5 | 366 G->C | Trp 122 Cys* |
| 173 | 4 | 305 G->A | Arg 102 Gln |
| 201 | 4 | 242 T->A | Ile 81 Asp* |