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) |
The PolyPhen (Polymorphism Phenotyping) tool predicts the possible impact of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations. The SIFT (Sorting Intolerant From Tolerant) tool predicts whether an amino acid substitution will affect the protein function; based on sequence homology and the physical properties of amino acids it calculates the potential impact of the amino acid change (score lower than 0.05 is considered potentially damaging).