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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