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    E297GIntracellular
N.D.    C336SNormal
G1296C    R432TReduced
T1331C    V444ANormal/Reduced
A1445G    D482GNormal/Reduced
G2026T    D676YReduced
G2563A    G855RReduced
G2944A    G982RIntracellular
C3457T    R1153CIntracellular
G3803A    R1268QIntracellular