TABLE 13

In vitro characterization of genetic polymorphisms in human OCT1 and -2

In vitro function was assessed using prototypical substrates for OCT1 and 2 (1-methyl-4-phenylpyridinium, tetraethylammonium, metformin). Nucleotide position was confirmed by PharmGKB (Hewett et al., 2002). OCT1 data from Kerb et al. (2002); Shu et al. (2003); Takeuchi et al. (2003); Sakata et al. (2004); Kang et al. (2007); Shu et al., 2007). OCT2 data from Leabman et al. (2002); Fukushima-Uesaka et al. (2004); Fujita et al. (2006); Lazar et al. (2006); Kang et al. (2007); Song et al. (2008); Wang et al., (2008e).

Nucleotide ChangeAmino Acid ChangeIn Vitro FunctionProtein Expression/Localization
SLC22A1OCT1
C41T    S14FN.D.
C181T    R61CReduced
T262C    C88RN.D.
C480G    F160LNormal
C566T    S189LN.D.
G659T    G220VN.D.
C848T    P283LNormal
C859G    R287GNormal
C1022T    P341L↓↔Normal
G1201A    G401SN.D.
A1222G    M408VN.D.
1258del    Met420STOP↓↔N.D.
G1393A    G465RReduced
SLC22A2OCT2
C160T    P54SN.D.
T481C    F161LN.D.
A493G    M165V↓↔N.D.
G495A    M165I↓↔N.D.
C596T    T199INormal
C602T    T201MNormal
G808T    A270SNormal
C890G    A297GN.D.
C1198T    R400CN.D.
A1294C    K432Q↓↔N.D.
• ↓, reduced function; ↑; increased function; ↔, no change in function; N.D. not determined.