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Article

Structural basis of ICF-causing mutations in the methyltransferase domain of DNMT3B.

Protein engineering - 1 Dec 2002

Lappalainen Ilkka, Vihinen Mauno

Abstract excerpt

Mutations in the gene encoding for a de novo methyltransferase, DNMT3B, lead to an autosomal recessive Immunodeficiency, Centromeric instability and Facial anomalies (ICF) syndrome. To analyse the protein structure and consequences of ICF-causing mutations, we modelled the structure of the DNMT3B methyltransferase domain based on Haemophilus haemolyticus protein in complex with the cofactor AdoMet and the target...

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Source

Identifiers

PMID: 12601140
DOI: 10.1093/protein/15.12.1005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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