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Article

Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation.

Human mutation - 1 Oct 2007

Gherasim Carmen, Rosenblatt David S, Banerjee Ruma

Abstract excerpt

Methionine synthase reductase (MTRR) is the locus of the cblE class of inborn errors of cobalamin metabolism that is characterized by megaloblastic anemia and homocystinuria. Two highly prevalent SNPs, c.66A>G (p.Ile22Met) and c.524C>T (p.Ser175Leu), are found in the MTRR gene. On the basis of the allele frequency of these amino acids and sequence comparison with members of the same family of proteins, the...

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Source

Identifiers

PMID: 17554763
DOI: 10.1002/humu.20563

Genes

MTRR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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