Identification of genetic variations of the human organic cation transporter hOCT1 and their functional consequences

R Kerb, U Brinkmann, N Chatskaia… - Pharmacogenetics …, 2002 - journals.lww.com
By systematic mutation screening of the polyspecific organic cation transporter hOCT1
(SLC22A1) in 57 Caucasians, 25 genetic variations were identified and further analysed for
population frequency. Five mutations resulting in the amino acid changes Arg61Cys,
Cys88Arg, Phe160Leu, Gly401Ser, and Met420del, with respective allele frequencies of 9.1,
0.6, 22, 3.2, and 16%, were functionally characterized upon expression in Xenopus oocytes.
Phe160Leu and Met420del exhibited substrate affinities and selectivites identical to hOCT1 …