CNGB3 disease causing mutations in families with achromatopsia
| Family | Mutation | ||
|---|---|---|---|
| Type | Nucleic acid change | Amino acid substitution | |
| Ht, heterozygous; Hm, homozygous, fs, frameshift. | |||
| Mutations in bold represent novel alterations. | |||
| *Substitution at non-conserved residue that is unlikely to be disease associated (see text). | |||
| 1 | Ht | 595delG, 1148delC | Glu199fs, Thr383fs |
| 19 | Ht | 919A→G | Ile307Val* |
| 2 | Hm | 1148delC | Thr383fs |
| 5 | Ht | 1148delC | Thr383fs |
| 11 | Hm | 1148delC | Thr383fs |
| 14 | Hm | 1148delC | Thr383fs |
| 16 | Hm | 1148delC | Thr383fs |
| 17 | Hm | 1148delC | Thr383fs |
| 13 | Hm | 1573/4TT→AA | Phe525Asn |