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    S14F↑N.D.
    C181T    R61C↓Reduced
    T262C    C88R↓N.D.
    C480G    F160L↔Normal
    C566T    S189L↔N.D.
    G659T    G220V↓N.D.
    C848T    P283L↓Normal
    C859G    R287G↓Normal
    C1022T    P341L↓↔Normal
    G1201A    G401S↓N.D.
    A1222G    M408V↔N.D.
    1258del    Met420STOP↓↔N.D.
    G1393A    G465R↓Reduced
SLC22A2OCT2
    C160T    P54S↔N.D.
    T481C    F161L↔N.D.
    A493G    M165V↓↔N.D.
    G495A    M165I↓↔N.D.
    C596T    T199I↓Normal
    C602T    T201M↓Normal
    G808T    A270S↓Normal
    C890G    A297G↔N.D.
    C1198T    R400C↓N.D.
    A1294C    K432Q↓↔N.D.

  • ↓, reduced function; ↑; increased function; ↔, no change in function; N.D. not determined.