Table 2 of
Zhang, Mol Vis 2016; 22:1514-1521. Table 2 of
Zhang, Mol Vis 2016; 22:1514-1521.
Table 2. Mutations in known candidate genes of Stargardt disease identified by whole-exome sequencing.
| Gene | Chromosome Position | Mutation | 1000G (%) | ESP6500si (%) | ExAC# (%) | Online Prediction | |||
|---|---|---|---|---|---|---|---|---|---|
| PolyPhen2 | SIFT | MutationTaster | SNPs&GO | ||||||
| ABCA4 | chr1:94,476,424 | NM_000350.2:c.G5646A:p.M1882I | 0 | 0 | 0.035 | + | + | + | + |
| chr1:94,505,685 | NM_000350.2:c.3523–2A>G: | 0 | 0 | 0 | NA | NA | NA | NA | |
| chr1:94,505,659 | NM_000350.2:c.G3547T:p.G1183C | 0.34 | 0 | 1.34 | - | - | - | - | |
| chr1:94,544,234 | NM_000350.2:c.A1268G:p.H423R | 30.26 | 30.94 | 24.77 | - | - | - | - | |
| ELOVL4 | chr6:80,626,375 | NM_022726.3:c.A895G:p.M299V | 24.16 | 10.92 | 21.16 | - | - | - | - |
| PRPH2 | chr6:42,666,061 | NM_000322.4:c.A1013G:p.D338G | 75.74 | 19.88 | 86.02 | Unknown | - | - | - |
| chr6:42,666,145 | NM_000322.4:c.G929A:p.R310L | 94.13 | 9.46 | 99.82 | - | - | - | - | |
| chr6:42,666,164 | NM_000322.4:c.C910G:p.Q304E | 75.66 | 19.90 | 85.85 | + | - | - | - | |