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Table 3 Association between clinical severity and in silico analysis of single nucleotide polymorphismsc

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

  Leader sequenced + Light chaine Gla Domain EGF-2 Domain Light chaine
χ2 P (two-tailed)a P (two-tailed)b χ2 P (two-tailed)a P (two-tailed)b χ2 P (two-tailed)a P (two-tailed)b χ2 P (two-tailed)a P (two-tailed)b
SIFT 6.610a 0.010 0.016 14.571a 0.000 0.002 5.296a 0.021 0.053 14.734a 0.000 0.000
PolyPhen-2 HumDiv 4.964a 0.026 0.049 10.767a 0.001 0.010 12.002a 0.001 0.005 10.339a 0.001 0.003
PolyPhen-2 HumVar 1.755a 0.185 0.206 0.129a 0.719 1.000 11.703a 0.001 0.004 3.401a 0.065 0.081
SNAP2 3.854a 0.050 0.070 10.767a 0.001 0.010 15.713a 0.000 0.002 7.927a 0.005 0.010
Mutation Assessor 12.300a 0.000 0.001 6.684a 0.010 0.034 5.296a 0.021 0.053 15.903 0.000 0.000
PANTHER 0.026a 0.872 0.826     0.080a 0.778 1.000 1.317a 0.251 0.272
PROVEAN 0.324a 0.569 0.545 3.896a 0.048 0.070 6.930a 0.008 0.018 1.809a 0.179 0.213
gP 1.128a 0.288 0.367 10.767a 0.001 0.010 4.749a 0.029 0.051 3.626a 0.057 0.084
wgP6 1.128a 0.288 0.367 10.767a 0.001 0.010 4.749a 0.029 0.051 3.626a 0.057 0.084
wgP4 5.745a 0.017 0.032 10.767a 0.001 0.010 7.318a 0.007 0.029 9.272a 0.002 0.008
  1. aBy Pearson’s χ2 test
  2. bBy Fisher’s exact test
  3. cSevere vs. non-severe phenotypes
  4. dSignal peptide + propeptide
  5. eGla + EGF-1 + EGF-2