PMID: 18627414

Loscher W, Klotz U, Zimprich F, Schmidt D
The clinical impact of pharmacogenetics on the treatment of epilepsy.
Epilepsia. 2009 Jan;50(1):1-23. Epub 2008 Jul 8., [PubMed]
Sentences
No. Mutations Sentence Comment
60 ABCC1 p.Ala893Ser
X
ABCC1 p.Ala893Ser 18627414:60:381
status: NEW
view ABCC1 p.Ala893Ser details
ABCC1 p.Ala893Thr
X
ABCC1 p.Ala893Thr 18627414:60:394
status: NEW
view ABCC1 p.Ala893Thr details
 The synonymous 3435C>T polymorphism is in linkage disequilibrium with a synonymous SNP in exon 13 (1236C>T) and a nonsynonymous SNP in exon 22 (2677G>TA), suggesting that the observed functional differences in Pgp, initially attributed to the exon 27 synonymous SNP, may be the result of the associated nonsynonymous polymorphism in exon 22, which results in amino acid exchanges (Ala893Ser or Ala893Thr) (Marzolini et al., 2004). Login to comment