Table 2 of
Messina-Baas, Mol Vis 2006;
12:995-1000.
Table 2.
Mutations in CRYGD causing cataract.
Codon Nucleotide Amino acid Phenotype Reference ------- ---------- ---------- ----------------------- --------- 14 cCGC-TGC Arg-Cys Punctate cataract, [30] Juvenile progressive cataract 23 cCCC-ACC Pro-Thr Lamellar cataract, [32-36] Cerulean cataract, Fasciculiform cataract, Coralliform cataract, Nuclear cataract 36 gCGC-AGC Arg-Ser Cataract with [31,37] protein crystallization, Congenital nuclear cataract 58 CGC-CAC Arg-His Aculeiform cataract [23] 107 GAG-GCG Glu-Ala Nuclear cataract This paper 156stop TGG-TAG Trp-Term Central nuclear [32] cataract |