Table 1 of
Gonzalez-Huerta, Mol Vis 2007;
13:1333-1338.Table 1 of
Gonzalez-Huerta, Mol Vis 2007;
13:1333-1338.
Table 1. Human CRYGC mutations associated with congenital cataract
Clinical heterogeneity is evident with the presence of different phenotypes with CRYGC mutations, specially in Arg168Trp.
Nucleotide defect Codon Phenotype Protein effect Reference ----------------- ----- ------------------- -------------- ---------- A13C 5 Coppock-like Thr5Pro [16] 123-128insGCGGC 52 Zonular pulverulent New amino acid [33] C502T 168 Lamellar Arg168Trp [13] C502T 168 Nuclear Arg168Trp This paper |