Article
The CYP2C19 Intron 2 Branch Point SNP is the Ancestral Polymorphism Contributing to the Poor Metabolizer Phenotype in Livers with CYP2C19*35 and CYP2C19*2 Alleles.
Drug metabolism and disposition: the biological fate of chemicals - 1 Aug 2015
Chaudhry Amarjit S, Prasad Bhagwat, Shirasaka Yoshiyuki, Fohner Alison, Finkelstein David, Fan Yiping, Wang Shuoguo, Wu Gang, Aklillu Eleni, Sim Sarah C, Thummel Kenneth E, Schuetz Erin G
Abstract excerpt
CYP2C19 rs12769205 alters an intron 2 branch point adenine leading to an alternative mRNA in human liver with complete inclusion of intron 2 (exon 2B). rs12769205 changes the mRNA reading frame, introduces 87 amino acids, and leads to a premature stop codon. The 1000 Genomes project (http://browser.1000genomes.org/index.html) indicated rs12769205 is in linkage disequilibrium with rs4244285 on CYP2C19*2, but found...
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