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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).