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Table 2 In silico analysis of 215 single nucleotide polymorphisms at F9 exons 1–5

From: In silico analysis of missense mutations in exons 1–5 of the F9 gene that cause hemophilia B

Program

Variants predicted as deleterious (%)

Variants predicted as benign (%)

Accuracy

Weighte

SIFT

194 (90.2)

21 (9.8)

90.2

1

PolyPhen-2 HumDiv

189 (87.9)

26 (12.1)

87.9

0.974

PolyPhen-2 HumVar

179 (83.3)

36 (16.7)

  

SNAP2

184 (58.6)

31 (14.4)

85.6

0.924

MutationAssessora

188 (87.4)

27 (12.6)

87.4

0.896

PANTHER

184 (85.6)

31 (14.4)

85.6

0.850

PROVEAN

176 (81.9)

39 (18.1)

81.9

0.772

gP b

184 (85.6)

31 (14.4)

  

wgP6c

184 (85.6)

31 (14.4)

  

wgP4d

187 (87.0)

28 (13.0)

  
  1. aMutationAssessor scores mutational impact as neutral, low, medium, and high. Neutral and low impact were considered benign, while medium and high impact were considered deleterious
  2. bCombined prediction
  3. cWeighted combined prediction from six programs
  4. dWeighted combined prediction from four programs
  5. eThe program with highest accuracy was weighted 1, and all other programs were weighted proportionally