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