Table 3.

Pathogenicity score of missense mutations

Missense Mutations	Polyphen- 2		Provean		MUpro		SNP&GO		Sift
	Score	prediction	Score	prediction	SVM score	Protein structure stability	Score	Prediction	Score	Prediction
p.Pro302Ala	0.028	Benign	−4.257	Deleterious	−0.797	Decrease stability	(0.4)	Neutral	0.00	Benign
p.Thr 305 Ala	0.00	Benign	−0.387	Neutral	0.134	Increase stability	(0.05)	Neutral	0.00	Benign
p.Thr331Ala	0.025	Benign	−1.100	Neutral	0.122	Increase stability	(0.03)	Neutral	0.00	Benign
p.Thr331Ala	0.025	Benign	−1.100	Neutral	0.122	Increase stability	(0.03)	Neutral	0.00	Benign
p.Ser325Gly	0.014	Benign	−2.331	Neutral	−0.063	Decrease stability	(0.1)	Neutral	0.00	Benign
p.Trp 432Arg	1.00	Damaging	−12.18	Deleterious	−0.411	Decrease stability	(0.8)	Disease	Na	Na

Pathogenecity of missense mutations was calculated by five different softwares to check for the protein structure stability and deleterious effects. Na not available