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Article

One amino acid makes a difference-Characterization of a new TPMT allele and the influence of SAM on TPMT stability.

Scientific reports - 2 May 2017

Iu Yan Ping Heidi, Helander Sara, Kahlin Anna Zimdahl, Cheng Chun Wah, Shek Chi Chung, Leung Moon Ho, Wallner Björn, Mårtensson Lars-Göran, Appell Malin Lindqvist

Abstract excerpt

Thiopurine induced toxicity is associated with defects in the thiopurine methyltransferase (TPMT) gene. TPMT is a polymorphic enzyme, with most of the single nucleotide polymorphisms (SNPs) causing an amino acid change, altering the enzymatic activity of the TPMT protein. In this study, we characterize a novel patient allele c.719A > C, named TPMT*41, together with the more common variant *3C c.719A > G,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28462921
DOI: 10.1038/srep46428
PMCID: PMC5411961

Genes

TPMT

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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