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Article

A missense mutation in exon 6 of the CYP2D6 gene leading to a histidine 324 to proline exchange is associated with the poor metabolizer phenotype of sparteine.

Naunyn-Schmiedeberg's archives of pharmacology - 1 Oct 1994

Evert B, Griese E U, Eichelbaum M

Abstract excerpt

The sparteine/debrisoquine polymorphism is a clinically important genetic deficiency of cytochrome P4502D6-catalyzed oxidative drug metabolism. 5-10% of Caucasians designated as poor metabolizers have a severely impaired capacity to metabolize more than 30 therapeutically used drugs. Genotyping of a random Caucasian population for the known cytochrome P4502D6 mutations A, B and D which are associated with the...

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Identifiers

PMID: 7845481
DOI: 10.1007/BF00178963

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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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A missense mutation in exon 6 of the CYP2D6 gene leading to a histidine 324 to proline exchange is associated with the poor metabolizer phenotype of sparteine.PMID 7845481Read ↗

An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine.Semantic proximity Read ↗

Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism.Semantic proximity Read ↗

Debrisoquine/sparteine hydroxylation genotype and phenotype: analysis of common mutations and alleles of CYP2D6 in a European population.Semantic proximity Read ↗

Multiple mutations of the human cytochrome P450IID6 gene (CYP2D6) in poor metabolizers of debrisoquine. Study of the functional significance of individual mutations by expression of chimeric genes.Semantic proximity Read ↗

Elucidation of the genetic basis of the common 'intermediate metabolizer' phenotype for drug oxidation by CYP2D6.Semantic proximity Read ↗

Cytochrome P450 2D6: overview and update on pharmacology, genetics, biochemistry.Semantic proximity Read ↗

Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype.Semantic proximity Read ↗

Identification of a new variant CYP2D6 allele lacking the codon encoding Lys-281: possible association with the poor metabolizer phenotype.Semantic proximity Read ↗

Interpretation of a simple PCR analysis of the CYP2D6(A) and CYP2D6(B) null alleles associated with the debrisoquine/sparteine genetic polymorphism.Semantic proximity Read ↗

Genetic polymorphisms of drug metabolism.Semantic proximity Read ↗

Pharmacogenetics of cytochrome P4502D6: genetic background and clinical implicationSemantic proximity Read ↗

The human CYP2D locus associated with a common genetic defect in drug oxidation: a G1934----A base change in intron 3 of a mutant CYP2D6 allele results in an aberrant 3' splice recognition site.Semantic proximity Read ↗

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