Fig. 3.

The difference in the C > T polymorphism rate according to the resulting amino acid changes. a Among the cytosines at the CpG dinucleotide sequence contexts in the coding sequences, the methylation of which is ≥67%, the proportions of reported C > T substitutions in the ExAC (inner circle) and the 1000 Genomes and the PCAWG (outer ring) database are illustrated. Nonsense-primed C > T mutations are negatively selected compared to missense and synonymous substitutions. b The distribution of the allele counts of C > T substitutions at the CpG contexts in the coding sequences in the ExAC database. Nonsense-primed C > T genomic loci have a singleton of more than 40%. As the effect of the amino acid change becomes smaller, the more the number of humans who have a C > T substitution on a specific locus increases, wherever a certain cytosine or guanine is located