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