Table 4 of Khordadpoor-Deilamani, Mol Vis 2015; 21:730-735.


Table 4. Results of the analysis of the novel missense mutations with the bioinformatics tools.

Novel missense mutations Polyphen-2 SIFT I Mutant 2 Mutation Taster
Prediction Score Prediction Score Prediction (sign of DDG)
p.G47S Probably damaging 1.000 damaging 0 Decrease stability disease causing
p.P301L Probably damaging 1.000 damaging 0 Decrease stability disease causing