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
| Â | 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 |