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Article

The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.

Human mutation - 1 Feb 2009

Christensen Karen E, Rohlicek Charles V, Andelfinger Gregor U, Michaud Jacques, Bigras Jean-Luc, Richter Andrea, Mackenzie Robert E, Rozen Rima

Abstract excerpt

Methylenetetrahydrofolate dehydrogenase)methenyltetrahydrofolate cyclohydrolase)formyltetrahydrofolate synthetase (MTHFD1) is a trifunctional enzyme that interconverts tetrahydrofolate (THF) derivatives for nucleotide synthesis. A common variant in MTHFD1, p.Arg653Gln (c.1958G>A), may increase the risk for neural tube defects (NTD). To examine the biological impact of this variant on MTHFD1 function, we measured...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Heart Defects, Congenital

Share to Methylenetetrahydrofolate Dehydrogenase (NADP)

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Source

Identifiers

PMID: 18767138
DOI: 10.1002/humu.20830

Genes

MTHFD1

Variants

Provenance

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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