Table 2 of
Sun, Mol Vis 2011; 17:2197-2206. Table 2 of
Sun, Mol Vis 2011; 17:2197-2206.
Table 2. Summary of mutations detected in patients with congenital cataracts in this study.
| Gene | Nucleotide change | Amino acid change | Effect prediction | Frequency in | Note | References | ||
|---|---|---|---|---|---|---|---|---|
| PolyPhen-2 | SIFT | patients | controls | |||||
| CRYAA | c.292G>A | p.Gly98Arg | probably damaging | damaging | 1/25 | N/A | reported* | [7] |
| CRYAA | c.350_352 delGCT | p.[Arg117His, Tyr118del] | N/A | N/A | 1/25 | 0/96 | novel | |
| CRYAB | c.205 C>T | p.Arg69Cys | probably damaging | damaging | 1/25 | 0/96 | novel | |
| CRYBA1 | c.215+1G>A | splicing donor abolished | N/A | N/A | 1/25 | N/A | reported | [10,10,19,20,63] |
| CRYBA1 | c.272_274 delGAG | p.Gly91del | N/A | N/A | 2/25 | N/A | reported | [18,21-23] |
| CRYGD | c.106G>C | p.Ala36Pro | benign | damaging | 1/25 | 0/96 | novel | |
| CRYGS | c.77 A>G | p.Asp26Gly | probably damaging | damaging | 1/25 | 0/96 | novel | |
| GJA3 | c.1143_1165del23 | p.381fs*48 | N/A | N/A | 1/25 | 0/96 | novel | |
| GJA3 | c.176 C>T | p.Pro59Leu | probably damaging | damaging | 1/25 | N/A | reported | [36,50] |