Table 3.

Summary of prediction values for eight novel missense mutations identified in F8 gene. Prediction of the novel missense mutation effect was performed on factor VIII protein and biological function using multiple software. SIFT score ≤ 0.05 indicates the damaging/deleterious effect and SIFT score above than 0.05 indicates a tolerated effect. A PolyPhen2 score ranges from 0.0 (tolerated) to 1.0 (deleterious), while for PROVEAN score that is equal to or less than a predefined threshold of −2.5, the variant is predicted to have a “deleterious” effect.

Patients	Nucleotide Changes	Amino Acid Changes	Disease Severity	SIFT Score	PolyPhen2 Score	PROVEAN Score	Missense Prediction
HA18	c.1354 G > T	D452Y	Mild	<0.05	1.00	−7.71	Damaging
HA25	c.1016 T > G	M339R	Severe	<0.05	1.00	−5.35	Damaging
HA67	c.6986 C > G	P2329R	Severe	<0.05	1.00	−7.85	Damaging
HA70	c.6085 A > T	M2029L	Mild	0.05	0.106	−2.47	Neutral/Benign
HA76	c.2159 G > T	G720V	Severe	<0.05	1.00	−7.26	Damaging
HA77	c.5609 T > C	L1870P	Moderate	<0.05	1.00	−6.32	Damaging
HA80	c.6272 A > C	K2091T	Mild	0.01	1.00	−2.92	Damaging
HA86	c.6857 A > T	D2286V	Severe	<0.05	0.999	−6.23	Damaging

HA, Haemophilia A.