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