Table 3.

CYP3A4 variants detected in the three South African populations.

Position in gene	Allele	rs number	Region	Amino acid substitution	Allele frequencies (%)
(ENSG00000160868)					Khoisan (n = 29)	Xhosa (n = 65)	MA (n = 65)
−392 A>GG>A	CYP3A4*1B	rs2740574	5′-flanking		76.79	73.02	45.90
−292 T>G		Novel	5′-flanking		7.14	0.00	0.81
−215 T>A		rs144721069	5′-flanking		0.00	0.81	0.85
3847 A>G		Novel	Intron 1		0.00	8.59	0.00
5916 T>C		rs12721625	Intron 2		0.00	1.56	1.56
13969 G>A		Novel	Intron 5		0.00	0.00	2.31
14268 C>T	CYP3A4*23	rs57409622	Exon 6	R162W	3.57	0.77	0.00
14269 G>A	CYP3A4*15	rs4986907	Exon 6	R162Q	0.00	2.38	0.00
15619 A>G		rs111768354	Exon 7	G190G	1.72	3.85	3.17
15628 C>T		rs4987159	Exon 7	I193I	0.00	4.62	3.17
15649 A>T	CYP3A4*24	rs113667357	Exon 7	Q200H	10.34	3.08	3.17
15753 T>G		rs2687116	Intron 7		75.86	77.69	45.38
15783 T>C		rs4987160	Intron 7		10.34	3.85	3.85
15804 T>G		rs28988584	Intron 7		0.00	3.85	2.38
15837 T>A		rs12721622	Intron 7		10.34	10.00	3.85
17024 C>T*		rs12721624	Intron 8		0.00	0.00	3.33
17829 T>C		Novel	Intron 9		8.62	0.78	0.78
20230 G>A	CYP3A4*1G	rs2242480	Intron 10		91.38	93.85	60.00
20309 G>C		rs4986911	Intron 10		15.52	9.68	6.35
20327 T>C		rs34738177	Intron 10		0.00	1.61	0.78
21896 C>T	CYP3A4*12	rs12721629	Exon 11	L373F	0.00	2.34	0.00
23081 C>T		rs12721620	Intron 11		1.92	20.31	10.83
25721 A>G		rs3735451	Intron 12		76.92	87.70	50.00
25739 C>T*		rs147972695	Intron 12		0.00	3.33	0.00

Allele frequencies are given for the variant allele.

^*Due to RFLP genotyping failure, these SNPs were only genotyped in the 45 sequenced individuals.