Table 2.

In silico analysis results of three web-based programs to predict the deleterious effect of detected nonsynonymous variations on the protein function and structure.

Mutations	Sequence variation database	SIFT		Polyphen-2		MutationTaster
		Score	Prediction	Score	Prediction	Score	Prediction
I158M	Novel	0.21	Tolerated	0.191	Benign	0.27	Polymorphism
E177V	Novel	0.02	Damaging	0.981	Probably damaging	3.30	Disease causing
K219R	Novel	0.71	Tolerated	0.002	Benign	0.71	Polymorphism
R736H	rs139293773 COSM133737	0.39	Tolerated	0.997	Probably damaging	0.79	Disease causing
R882H	rs147001633 COSM52946	0.03	Damaging	0.651	Possibly damaging	0.79	Disease causing

I: isoleucine; M: methionine; E: glutamate; V: valine; K: lysine; R: arginine; H: histidine.