TABLE 14

Summary of nonsynonymous polymorphisms in OATP-C (Tirona et al., 2001)

Exon	Region	Nucleic Acid Substitution	Amino Acid Substitution	Allelic Frequency				[³H]Estrone Sulfate Transport Activity by OATP-C Variants
Exon	Region	Nucleic Acid Substitution	Amino Acid Substitution	European-American (n = 49)	African-American (n = 44)	Japanese^a (n = 267)	Japanese^b (n = 120)	K_m (μM)	V_max (pmol/min/mg)	V_max/K_m (μl/min/mg)
			Wild type					0.54 ± 0.21	19.8 ± 3.4	41 ± 9.7
2	TM	T217C	Phe73Leu	0.02	0.00	NE	0.00	5.9 ± 1.5^*	20 ± 2.8	4.3 ± 1.1^*
3	TM	T245C	Val82Ala	0.02	0.00	NE	0.00
4		A388G	Asn130Asp	0.30	0.74^††	0.54	0.63	0.33 ± 0.12	18 ± 2.2	90 ± 25
4		A452G	Asn151Ser	0.00	0.00	NE	0.04
4		C463A	Pro155Thr	0.16	0.02^†	NE	0.00	0.72 ± 0.28	17 ± 3.7	30 ± 5.4
4		A467G	Glu156Gly	0.02	0.00	NE	0.00
5	TM	T521C	Val174Ala	0.14	0.02^†	0.11	0.16	0.34 ± 0.089	5.7 ± 0.75^**	20 ± 3.2
8	TM	C1007G	Pro336Arg	0.00	0.00	NE	0.01
8	TM	T1058C	Ile353Thr	0.02	0.00	NE	0.00	2.4 ± 0.9^*	20 ± 5.5	9.4 ± 1.4^*
9	Ex loop5	A1294G	Asn432Asp	0.01	0.00	NE	0.00	0.37 ± 0.18	12 ± 0.94^**	51 ± 16
10	Ex loop5	A1385G	Asp462Gly	0.01	0.00	NE	0.00	0.14 ± 0.073	8.3 ± 1.7^*	116 ± 38
10	Ex loop5	G1454T	Cys485Phe	0.00	0.00	NE	0.01
10	Ex loop5	G1463C	Gly488Ala	0.00	0.09^†	NE	0.00	4.3 ± 2.2	13 ± 4.9	5.9 ± 2.1^*
14		A1964G	Asp655Gly	0.02	0.00	NE	0.00	2.7 ± 0.56^*	19 ± 3.3	8.8 ± 2.2^*
14		A2000G	Glu667Gly	0.02	0.34^††	NE	0.00	0.63 ± 0.21	16 ± 3.2	33 ± 3.3

NE, not examined.

^*P < 0.05; ^** P < 0.01 relative to wild type (GenBank accession numbers AB02657, AJ132573).

^†P < 0.05; ^†† P < 0.01 relative to European-American using Fisher's exact test.
↵ a Adapted from Nozawa et al., 2002.
↵ b Adapted from Nishizato et al., 2003.