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 Change	Amino Acid Change	In Vitro Function	Protein Expression/Localization
SLC22A1	OCT1
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
SLC22A2	OCT2
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.