Table 3 of Zhang, Mol Vis 2007; 13:2096-2104.

Table 3. γD-crystallin mutations, related phenotypes and functional changes

Seven disease-causing mutations of GRYGD have been identified for congenital cataract with different phenotypes. Unlike most of the missense mutations without causing any protein conformation changes, the novel truncated G165fs showed altered protein properties.

acid                     Origin of   Structural and functional changes
change     Phenotype     patients            of mutant protein             Reference
------   -------------   ---------   ---------------------------------   --------------
R14C     Progressive     USA         Formation of disulfide-linked       [7],[8],[24]
         punctuate                   oligomers by reactive cysteine;
                                     No overall conformation change.
         Coralliform     Chinese

P23T     Lamellar        India       Formation of mutant protein         [9],[10],[11],
         Cerulean        Morocco     clusters by an attractive patch     [12],[13],
         Nuclear         Australia   at or near the mutation site; No    [25],[26]
         Fasciculiform   Chinese     overall conformation change
         Coralliform     USA

R36S     Crystal         Czech       Spontaneous crystallization by      [14],[15],[28]
                         Chinese     local charge alteration; No
                                     overall conformation change

R58H     Aculeiform      Swiss       Spontaneous crystallization by      [16],[17],[28]
                         Mexico      local charge alteration; No
                                     overall conformation change

E107A    Nuclear         Mexico      Not available                       [18]

W156X    Nuclear         India       Not available                       [9]

G165fs   Nuclear         Chinese     Reduced detergent solubility and    Present
                                     nuclear mislocalization; Protein    study

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©2007 Molecular Vision <>
ISSN 1090-0535