ABCMdb

PMID: 24325761

Chen P, Yan Q, Xu H, Lu A, Zhao P
The effects of ABCC2 G1249A polymorphism on the risk of resistance to antiepileptic drugs: a meta-analysis of the literature.
Genet Test Mol Biomarkers. 2014 Feb;18(2):106-11. doi: 10.1089/gtmb.2013.0362. Epub 2013 Dec 10., [PubMed]

Sentences

No. Mutations Sentence Comment

21 ABCC2 p.Val417Ile ABCC2 p.Val417Ile The G1249A (Val417Ile, rs2273697) polymorphism, which is associated with the substitution of Val with an Ile at position 417, is one of the most common polymorphisms in the ABCC2 gene, and its role in epilepsy pharmacoresistance has been the focus of recent research (Ito et al., 2001; Obata et al., 2006; Kim et al., 2010). Login to comment 100 ABCC2 p.Val417Ile The G1249A variant, a G to A base change that causes a substitution of isoleucine for valine at position 417 in the ABCC2 gene, has been suggested to influence ABCC2 function (Ito et al., 2001; Itoda et al., 2002; Suzuki and Sugiyama, 2002). Login to comment