Table 7 of Štabuc-Šilih, Mol Vis 2009; 15:2848-2860.
Table 7. Prediction of effect of substitution polymorphisms found in KC and healthy population.
COL4A3 polymorphism |
PolyPhen prediction (score) |
SIFT prediction (score) |
---|---|---|
G43R | possibly damaging (1.800) | not tolerated (0.00) |
P141L | probably damaging (2.250) | tolerated (0.40) |
E162G | benign(0.024) | tolerated (0.64) |
D326Y | probably damaging (2.025) | tolerated (0.08) |
H451R | benign (1.426) | tolerated (0.54) |
P574L | probably damaging (2.250) | tolerated (0.19) |
COL4A4 polymorphism |
PolyPhen prediction (score) |
SIFT prediction (score) |
P482S | benign (1.125) | tolerated (0.71) |
G545A | benign (1.350) | not tolerated (0.01) |
M1327V | benign(0.017) | tolerated (0.13) |