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Article

Identification and functional analysis of two rare allelic variants of the thiopurine S-methyltransferase gene, TPMT16 and TPMT19.

Biochemical pharmacology - 1 Feb 2005

Hamdan-Khalil Rima, Gala Jean-Luc, Allorge Delphine, Lo-Guidice Jean-Marc, Horsmans Yves, Houdret Nicole, Broly Franck

Abstract excerpt

Human thiopurine S-methyltransferase (TPMT) catalyses the S-methylation of thiopurine drugs. TPMT is genetically polymorphic and is associated with large interindividual variations in thiopurine drug toxicity and therapeutic efficacy. During routine genotyping of patients with Crohn's disease, one novel missense mutation, 365A>C (TPMT*19, Lys(122)Thr), and a recently described missense mutation, 488G>A (TPMT*16,...

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Source

Identifiers

PMID: 15652243
DOI: 10.1016/j.bcp.2004.10.011

Genes

TPMT

Provenance

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.

Related research

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Identification and functional analysis of two rare allelic variants of the thiopurine S-methyltransferase gene, TPMT*16 and TPMT*19.PMID 15652243Read ↗

Characterisation of novel defective thiopurine S-methyltransferase allelic variants.Semantic proximity Read ↗

Four human thiopurine s-methyltransferase alleles severely affect protein structure and dynamics.Semantic proximity Read ↗

Functional characterization of 23 allelic variants of thiopurine S-methyltransferase gene (TPMT*2 - *24).Semantic proximity Read ↗

Characterization of a novel sequence variant, TPMT*28, in the human thiopurine methyltransferase gene.Semantic proximity Read ↗

Identification of two novel sequence variants affecting thiopurine methyltransferase enzyme activity.Semantic proximity Read ↗

Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22) - association with decreased enzyme function.Semantic proximity Read ↗

Identification of a novel thiopurine S-methyltransferase allele (TPMT*37).Semantic proximity Read ↗

Identification of rare defective allelic variants in cases of thiopurine S-methyltransferase deficient activity.Semantic proximity Read ↗

Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants.Semantic proximity Read ↗

Explaining TPMT genotype/phenotype discrepancy by haplotyping of TPMT*3A and identification of a novel sequence variant, TPMT*23.Semantic proximity Read ↗

Thiopurine S-methyltransferase pharmacogenetics: functional characterization of a novel rapidly degraded variant allozyme.Semantic proximity Read ↗

Genotypic and phenotypic analysis of the polymorphic thiopurine S-methyltransferase gene (TPMT) in a European population.Semantic proximity Read ↗

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