Table 1.
SIFT | PolyPhen 2.0 | PROVEAN | PANTHER | ||||||
---|---|---|---|---|---|---|---|---|---|
SNPs ID | AA variant | Score | Prediction | Score | Prediction | Score | Prediction | PSPE | Prediction |
rs372272603 | R219C | 0 | Del | 1.000 | Pro Dam | -2.483 | Not Del | 750 | Pro Dam |
rs759590772 | R219H | 0 | Del | 0.988 | Pro Dam | -1.520 | Not Del | 750 | Pro Dam |
rs1396769231 | M383T | 0 | Del | 1.000 | Pro Dam | -4.797 | Del | 911 | Pro Dam |
rs762890235 | P389H | 0 | Del | 0.993 | Pro Dam | -7.862 | Del | 1037 | Pro Dam |
rs1316056737 | D427Y | 0 | Del | 0.970 | Pro Dam | -3.390 | Del | 176 | Not Del |
rs1352194082 | R514G | 0.02 | Del | 0.989 | Pro Dam | -6.483 | Del | 1037 | Pro Dam |
rs776995986 | R708W | 0.01 | Del | 1.000 | Pro Dam | -3.105 | Del | 361 | Pos Del |
rs901495523 | R710C | 0 | Del | 1.000 | Pro Dam | -2.936 | Del | 750 | Pro Dam |
rs370187012 | R710H | 0 | Del | 1.000 | Pro Dam | -1.788 | Not Del | 750 | Pro Dam |
rs144869363 | R716C | 0.01 | Del | 0.975 | Pro Dam | -1.638 | Not Del | 220 | Pos Del |
rs759590772 | L731F | 0 | Del | 0.995 | Pro Dam | -1.124 | Not Del | 750 | Pro Dam |
rs372272603 | R768W | 0 | Del | 1.000 | Pro Dam | -2.822 | Del | 750 | Pro Dam |
AA variant: amino acid variant; Del: deleterious; Not Del: not deleterious; Pro Dam: probably damaging; Pos Dam: possibly damaging; PSPE: position-specific evolutionary preservation.