TABLE 18.

In vitro characterization of genetic polymorphisms in human OCTN1 and -2

In vitro function was assessed using prototypical substrates for OCTN1 (tetraethylammonium) and OCTN2 (tetraethylammonium, carnitine). Nucleotide position was confirmed by PharmGKB (Hewett et al. (2002). OCTN1 data from Kawasaki et al. (2004); Gazouli et al. (2005); Babusukumar et al. (2006); Russell et al. (2006); Urban et al. (2007, 2008). OCTN2 data from Urban et al., 2006).

Nucleotide Change	Amino Acid Change	In Vitro Function	Protein Expression/Localization
SLC22A4	OCTN1
G475A	V159M	↔	N.D.
A494G	D165G	↓	Normal
G615A	M205I	↓	Normal
C844T	Arg282STOP	↓	N.D.
C917T	T306I	↔	Normal
G1385A	G462E	↓	Normal
C1507T	L503F	↑	Normal
SLC22A5	OCTN2
C51G	F17L	↓	Intracellular
C430T	L144F	↔	Normal
T1345G	Y449D	↓	N.D.
G1441T	V481F	↓	N.D.
G1441A	V481I	↔	N.D.
T1522C	F508L	↔	N.D.
A1588G	M530V	↔	N.D.
C1645T	P549S	↔	Normal

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