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Table 1 Numbers of C → T and G → A mutations found in CpG dinucleotides and CpHpG trinucleotides in a dataset of 54,625 missense and nonsense mutations in 2,113 different human genes (HGMD) and the numbers of possible C → T and G → A mutations in CpG dinucleotides and CpHpG trinucleotides within the coding regions of the mutated genes.

From: Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

Di/trinucleotide

Dataset

Number of mutations in

p-value

  

in di/trinucleotide

not in di/trinucleotide

 

CpG

HGMD

9,947

44,678

< 10-230

 

Possible

292,147

13,269,850

 

CpHpG

HGMD

5,402

49,223

< 10-230

 

Possible

610,714

12,951,283