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Table 6 Pearson’s linear correlation coefficients between the vIP of the wild type base surrounded by its flanking sequence and the difference in normalized frequency Δν between pathogenic and benign substitutions

From: Relation between DNA ionization potentials, single base substitutions and pathogenic variants

  Doublets XN Triplets NXN Quadruplets NXNN
Missense mutations in exons
All -0.35 -0.18 -0.15 (<0.001)
Transitions -0.32 -0.10 -0.06 (<0.05)
Transversions -0.39 -0.35 (<0.0005)) -0.27 \(\phantom {\dot {i}\!}{~}_{(<10^{-6})}\)
Synonymous mutations in exons
All -0.41 -0.20 (<0.05) -0.11
Transitions -0.37 -0.16 -0.08
Transversions -0.46 -0.21 -0.15
Mutations in introns
All 0.20 0.17 0.06
Transitions 0.00 0.27 0.08
Transversions 0.10 -0.09 -0.02
  1. See legend of Table 3 for further details