TABLE 14

In vitro characterization of genetic polymorphisms/mutations in BSEP

In vitro function was assessed using the prototypical substrate for BSEP (taurocholate). Some nucleotide positions were confirmed by PharmGKB (Hewett et al., 2002). Data from Strautnieks et al. (1998); Wang et al. (2002b); Hayashi et al. (2005); Noe et al. (2005); Lang et al. (2007).

Nucleotide ChangeAmino Acid ChangeIn Vitro FunctionProtein Expression/Localization
ABCB11BSEP
    N.D.    G238VN.D.Intracellular
    A890G    E297G↓Intracellular
    N.D.    C336S↔Normal
    G1296C    R432T↓Reduced
    T1331C    V444A↔Normal/Reduced
    A1445G    D482G↓Normal/Reduced
    G2026T    D676Y↓Reduced
    G2563A    G855R↓Reduced
    G2944A    G982R↓Intracellular
    C3457T    R1153C↓Intracellular
    G3803A    R1268Q↓Intracellular