Table 4 of
Xiang, Mol Vis 2014; 20:939-946. Table 4 of
Xiang, Mol Vis 2014; 20:939-946.
Table 4. Mutations of ZNF644 identified in high myopia patients up to now and the functional and conservation prediction for these mutations.
| Variants | AAChange | ExonicFunc | dbSNP137 | SIFTa | PolyPhen2b | PhyloPc | GERP++ | Studyd |
|---|---|---|---|---|---|---|---|---|
| c.+12C>G | - | UTR3 | Novel | NA | NA | NA | NA | Shi, et al. [20] |
| c.+592G>A | - | UTR3 | Novel | NA | NA | NA | NA | Shi, et al. [20] |
| c.3833A>G | p.E1278G | Missense | Novel | D | D | C | 4.42 | This study |
| c.2867C>G | p.T956S | Missense | Novel | T | B | C | 4.7 | This study |
| c.2565A>G | p.T855T | Synonymous | Novel | NA | NA | NA | NA | This study |
| c.2096G>A | p.C699Y | Missense | Novel | T | D | C | 4.72 | Shi, et al. [20] |
| c.2038C>G | p.R680G | Missense | Novel | D | D | C | 4.27 | Shi, et al. [20] |
| c.2014A>G | p.S672G | Missense | Novel | D | P | N | 1.31 | Shi, et al. [20] |
| c.1759A>T | p.I587L | Missense | Novel | T | B | N | −8.99 | Shi, et al. [20] |
| c.1201A>G | p.T401A | Missense | Novel | T | B | C | 4.01 | This study |
| c.821A>T | p.E274V | Missense | Novel | D | B | C | 5.44 | Tran-Viet, et al.[ 21] |
| c.-219C>A | - | UTR5 | Novel | NA | NA | NA | NA | This study |