Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population

Table 3 Pathogenicity score of missense mutations

Missense Mutations	Polyphen- 2		Provean		MUpro		SNP&GO		Sift
Missense Mutations	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

ISSN: 1477-9560