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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