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 Change | Amino Acid Change | In Vitro Function | Protein Expression/Localization |
---|---|---|---|
ABCB11 | BSEP | ||
N.D. | G238V | N.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 |