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
|