PMID: 19571437

Vahab SA, Sen S, Ravindran N, Mony S, Mathew A, Vijayan N, Nayak G, Bhaskaranand N, Banerjee M, Satyamoorthy K
Analysis of genotype and haplotype effects of ABCB1 (MDR1) polymorphisms in the risk of medically refractory epilepsy in an Indian population.
Drug Metab Pharmacokinet. 2009;24(3):255-60., [PubMed]
Sentences
No. Mutations Sentence Comment
30 ABCC1 p.Ala893Ser
X
ABCC1 p.Ala893Ser 19571437:30:157
status: NEW
view ABCC1 p.Ala893Ser details
 These three coding region SNPs- synonymous c.1236CÀT (p.Gly412Gly) and c.3435CÀT (p.Ile1145Ile), as well as the non-synonymous c.2677GÀT/A (p.Ala893Ser/Thr) are in significant linkage disequilibrium and a few of their haplotypes have shown association to phenotypes with over-expression of the protein.7-10) However, for these three SNPs, ethnic differences have been reported in the pattern of linkage disequilibrium with an allele frequency of 45-55% in Whites and 5-10% in African Americans. Login to comment