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.

@article{Chaudhry2015TheCI,
  title={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.},
  author={Amarjit Singh Chaudhry and Bhagwat Prasad and Yoshiyuki Shirasaka and Alison E Fohner and David B. Finkelstein and Yiping Fan and Shuoguo Wang and Gang Wu and Eleni Aklillu and Sarah C. Sim and Kenneth E. Thummel and Erin G. Schuetz},
  journal={Drug metabolism and disposition: the biological fate of chemicals},
  year={2015},
  volume={43 8},
  pages={
          1226-35
        }
}
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 alone on CYP2C19*35 in Blacks. Minigenes containing rs12769205 transfected into… CONTINUE READING