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Article

Novel CYP2B6 enzyme variants in a Rwandese population: functional characterization and assessment of in silico prediction tools.

Human mutation - 1 May 2013

Radloff Robert, Gras Alain, Zanger Ulrich M, Masquelier Cécile, Arumugam Karthik, Karasi Jean-Claude, Arendt Vic, Seguin-Devaux Carole, Klein Kathrin

Abstract excerpt

Cytochrome P450 CYP2B6 is a highly polymorphic enzyme that metabolizes numerous drugs, pesticides, and environmental toxins. Sequence analysis of a Rwandese population identified eight functionally uncharacterized nonsynonymous variants c.329G>T (p.G110V), c.341T>C (p.I114T), c.444G>T (p.E148D), c.548T>G (p.V183G), c.637T>C (p.F213L), c.758G>A (p.R253H), c.835G>C (p.A279P), and c.1459C>A (p.R487S), and five novel...

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PMID: 23418033
DOI: 10.1002/humu.22295

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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