Table 1

Coding region polymorphisms, defined during DNMT mutation screening. Nucleotide numbering refers to cDNA sequence AF012128 (DNMT2) or AF194032 (DNMT3L).

Gene

nt change (cDNA)

Exon

Effect

Frequency


DNMT2

G175→A

2

silent

A = 6, G = 4

DNMT2

T217→C

3

silent

T = 8, C = 2

DNMT2

C308→T

4

His101→Tyr

T = 6, C = 4

DNMT2

G556→T

8

silent

G = 8, T = 2

DNMT3L

A1316→G

9

Arg278→Gly

A = 34, G = 8


Frequencies were those observed among 10 alleles sequenced (DNMT2) or assessed by diagnostic restriction digest (DNMT3L).

Hayward et al. BMC Genetics 2003 4:2   doi:10.1186/1471-2156-4-2

Open Data