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

BMC Genomics

Table 1 Normalized SBS frequencies, defined as the ratio between the frequencies of mutations in the nucleobase motifs and the observation frequencies of the same motifs in exons (with a distinction between missense and synonymous SBSs), introns and UTRs

Missense		Synonymous		Intron		UTR
G:C	1.27	G:C	1.39	G:C	1.53	G:C	1.31
CpG	3.33	CpG	5.40	CpG	8.70	CpG	4.10
GpG	1.74	GpG	2.75	GpG	1.97	GpG	1.69
CGT	4.87	ACG	6.62	CGC	12.80	CGT	5.58
CGG	4.35	CCG	6.54	CGG	12.48	ACG	4.81
CCG	4.21	CGG	6.20	CCG	11.70	CCG	4.67
A:T	0.70	A:T	0.57	A:T	0.64	A:T	0.71
ApG	0.54	TpC	0.40	ApA	0.53	TpG	0.59
ApA	0.50	ApC	0.39	TpA	0.51	TpC	0.49
CAA	0.44	GAT	0.24	CTA	0.40	CAA	0.43
TTG	0.33	GAC	0.19	CAA	0.37	TTC	0.39
GAA	0.30	GAA	0.15	GAA	0.32	GAA	0.33
R _All	2.0	R _All	4.7	R _All	2.0	R _All	2.0
R _CpG	4.9	R _CpG	9.4	R _CpG	4.5	R _CpG	3.3

The nucleotide at which the substitution occurs is in bold. The mutations that are more frequent than expected are shown in the upper section of the Table, those that are less frequent in the middle section, and the ratio of transitions to transversions (noted R) in the lower section. Exhaustive results are given in Additional file 2: Table S4

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