Table 2 of
Guo, Mol Vis 2012; 18:1874-1880. Table 2 of
Guo, Mol Vis 2012; 18:1874-1880.
Table 2. Human CRYGC mutations associated with congenital cataract.
| Mutation | Amino acid change | Protein domains | Cataract phenotype | Reference |
|---|---|---|---|---|
| c.13A>C | T5P | GKM1 | Coppock-like | [21] |
| c.123–128insGCGGC | 52 new aa | GKM2 | Zonular pulverulent | [22] |
| c.502C>T | R168W | GKM4 | Lamellar | [23] |
| c.502C>T | R168W | GKM4 | Nuclear | [24] |
| c.327C>A | C109X | GKM3 | Nuclear | [25] |
| c.470G>A | W157X | GKM4 | Nuclear + Microcornea | [26] |
| c.385G>T | G129C | GKM4 | Nuclear | [27] |
| c.471G>A | W157X | GKM4 | Nuclear + Microcornea | Present study |