Table 2 of
Gupta, Mol Vis 2015; 21:1252-1260. Table 2 of
Gupta, Mol Vis 2015; 21:1252-1260.
Table 2. Details of mutations and variations identified in FECD and their in-silico prediction.
| Changes | Gene | Exon/ Intron | Cases (n=82) | Control (n=100) | P-value | SIFT Prediction | SIFT Score** | Mutation taster Prediction* |
|---|---|---|---|---|---|---|---|---|
| p.Glu733Lye | ZEB1 | Exon 7 | 1/82 | NC | NA | DAMAGING | 0.01 | D (0.9999) |
| p.Ala818Val | ZEB1 | Exon 7 | 1/82 | NC | NA | tolerated | 0.12 | D (0.9998) |
| p.Leu947stop | ZEB1 | Exon 8 | 1/82 | NC | NA | DAMAGING | 0 | D (1.0) |
| p.Gln840Pro | ZEB1 | Exon 7 | 1/82 | NC | NA | tolerated | 0.14 | D (0.9998) |
| p.Ser234Ser | ZEB1 | Exon 6 | 2/82 | NC | NA | tolerated | 1 | D (0.9998) |
| rs220060 | ZEB1 | Intron 5 | ~24%(19/82) | 4% (4/100) | 0.000743 | NA | NA | P (0.7116) |
| rs77516068 | ZEB1 | Intron 3 | ~3.0% (2/82) | NC | NA | NA | NA | P (0.9999) |
| rs7918614 | ZEB1 | Exon 2 | ~10% (8/82) | 11% (11/100) | 0.8131 | tolerated | 1 | P (1.7600 ) |
| rs161233 | ZEB1 | Intron3 | 17% (13/82) | 9% (9/100) | 0.087 | NA | NA | P (0.9999) |
| rs149166539 | ZEB1 | Exon 6 | ~3.0% (2/82) | NC | NA | tolerated | 1 | D (0.9999) |
| IVS2+276 | ZEB1 | Intron 3 | ~14% (11/82) | NC | NA | NA | NA | P (0.9999) |
| rs613872 | TCF4 | Intron 9 | ~34% (28/82) | ~17% (25/143) | 0.0117 | NA | NA | P (0.9999) |
| rs75864656 | COL8A2 | Exon 2 | ~17% (14/82) | 17% (17/100) | 1.000 | tolerated | 0.62 | NA |