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

Messina-Baas, Mol Vis 2006; 12:995-1000 <http://www.molvis.org/molvis/v12/a111/>
©2006 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535