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