TABLE 1

Summary of protein-altering variants in OATP1A2 identified in ethnically diverse populations Data are available at http://www.pharmgkb.org. The seven newly identified protein-altering variants are shown in italics. The four variants that exhibit a change in transport function compared with reference OATP1A2 are shown in boldface.

Single Nucleotide Polymorphism No.	Coding Sequence Position^a	Nucleotide Change	Amino Acid Position^a	Amino Acid Change	Loop/TMD^b	Allele Frequency^c
Single Nucleotide Polymorphism No.	Coding Sequence Position^a	Nucleotide Change	Amino Acid Position^a	Amino Acid Change	Loop/TMD^b						Total (n = 540)	AA (n = 160)	EA (n = 160)	AS (n = 120)	ME (n = 100)
								%
1.1	38	T→C	13	Ile→Thr	Loop	6.3	2.5	16.3	0	5.0
4.1	382	A→T	128	Asn→Tyr	Loop	0.5	1.3	0	0	1.0
4.2	404	A→T	135	Asn→Ile	Loop	0.4	1.3	0	0	0
5.1	502	C→T	168	Arg→Cys	TMD	0.2	0	0.6	0	0
5.2	516	A→C	172	Glu→Asp	TMD	1.1	0	1.9	0	2.0
7.3	830	C→A	277	Thr→Asn	Loop	0.2	0.6	0	0	0
7.4	833	A→ -	278	Asn→DEL	Loop	0.2	0.6	0	0	0
7.6	841	A→G	281	Ile→Val	Loop	0.2	0	0	0.8	0
8.2	968	T→C	323	Leu→Pro	TMD	0.2	0	0.6	0	0
8.3	1063	A→G	355	Ile→Val	TMD	0.5	0	1.9	0	0
14.2	2003	C→G	668	Thr→Ser	Loop	1.4	4.4	0	0	1.0

↵ a Positions are relative to the ATG start site and are based on the cDNA sequence from GenBank accession no. NM_021094
↵ b Loop/TMD indicates whether a variant is located in a predicted loop or transmembrane domain region
↵ c Allele frequencies were calculated from actual DNA samples sequenced. Total, entire sample; AA, African-American; EA, European-American; AS, Asian-American; ME, Mexican-American; n, number of chromosomes