Skip to main content

Table 1 Coding region polymorphisms, defined during DNMT mutation screening. Nucleotide numbering refers to cDNA sequence AF012128 (DNMT2) or AF194032 (DNMT3L).

From: Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline

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

  1. Frequencies were those observed among 10 alleles sequenced (DNMT2) or assessed by diagnostic restriction digest (DNMT3L).
Back to article page

BMC Genomic Data

ISSN: 2730-6844

Contact us