Table 2 of Yao, Mol Vis 2008; 14:1272-1276.
Table 2 of Yao, Mol Vis 2008; 14:1272-1276.
Table 2. Human CRYGC mutations associated with congenital cataract.
| Cataract Phenotypes | Mutations | Exons | Effects | Protein domains | References |
| Coppock-like | c.13A>C | 1 | p.Thr5Pro | GKM 1 | [11] |
| Zonular pulverulent | c.123insGCGGC | 2 | p.Gly41delinsGlyfsX62 | C-td 3 GKM loss | [25] |
| Lamellar/nuclear | c.502C>T | 3 | p.Arg168Trp | GKM 4 | [26,27] |
| Nuclear | c.327C>A | 3 | p.Cys109X | C-td 1.5 GKM loss | this study |