Table 3 of Roshan, Mol Vis 2010; 16:887-896.

Table 3. Mutation spectrum of human CRYGD and cataract phenotypes in different childhood cataract families.

Exon Nucleotide Amino acid Inheritance Phenotype Ethnicity Ref
Ex2 c.43C>T p.Arg15Cys (R15C) AD Punctate cataract, juvenile progressive Caucasian [10]
Ex2 c.43C>T p.Arg15Cys (R15C) AD Coralliform/nuclear Chinese [23]
Ex2 c.43C>A p.Arg15Ser (R15S) AD Coralliform Chinese [32]
Ex2 c.70C>A p.Pro24Thr (P24T) AD Lamellar Indian [15]
Ex2 c.70C>A p.Pro24Thr (P24T) AD Cerulean Moroccan [24]
Ex2 c.70C>A p.Pro24Thr (P24T) AD Coral-shaped, coralliform Caucasian [25]
Ex2 c.70C>A p.Pro24Thr (P24T) AD Flaky, silica-like nuclear cataract Australian pedigrees of European ancestry [26]
Ex2 c.70C>A p.Pro24Thr (P24T) AD Fasciculiform Chinese [27]
Ex2 c.70C>A p.Pro24Thr (P24T) AD Coralliform Chinese [32]
Ex2 c.70C>A p.Pro24Thr (P24T) AD Cerulean and Coralliform Saudi Arabian [33]
Ex2 c.109C>A p.Arg37Ser (R37S) AD with protein crystallization Czech boy [28]
Ex2 c.109C>A p.Arg37Ser (R37S) AD Nuclear golden crystal Chinese [29]
Ex2 c.168C>G p.Tyr56Stop (Y56X) AD Nuclear Brazilian [34]
Ex2 c.176G>A p.Arg59His (R59H) AD Aculeiform Macedonian [38]
Ex2 c.181G>T p.Gly61Cys (G61C) AD Coralliform Chinese [30]
Ex2 c.229C>A p.Arg77Ser (R77S) AD Anterior polar, Coronary Indian This study
Ex3 c.320A>C p.Glu107Ala (E107A) AD Nuclear Hispanic [31]
Ex3 c.403C>A p.Tyr134Stop (Y134X) AD No data Danish [35]
Ex3 c.418C>T p.Arg140Stop (R140X) AD Nuclear Indian [36]
Ex3 c.470G>A p.Trp157Stop (W157X) AD Nuclear Indian [15]
Ex3 c.494delG p.Gly165fs AD Nuclear Chinese [37]