Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects

Matimba, Alice; Del-Favero, Jurgen; Van Broeckhoven, Christine; Masimirembwa, Collen

doi:10.1186/1479-7364-3-2-169

Human Genomics

Table S1 CYP2C9 single nucleotide polymorphism (SNP) frequencies

From: Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects

NC_000010.9	mRNA position	SNP	mRNA feature	Effect	dbSNP	Hausa (13)	Luo (12)	Maasai (11)	San (13)	Shona (23)	Venda (9)	TZ Bantu (12)	Total (93)
96829291	-375	T > C	5' UTR		rs9332103	0.04	nd	0	0	0	nd	nd	0.01
96829916	251	T > C	Intron		rs9332104	0.08	0.10	0.27	0.12	0.22	0.17	0.11	0.16
96833076	3411	T > C	Intron		rs9332120	0	0.10	0	0.04	0.13	0.17	0.14	0.08
96833152	3487	A > G	Intron	splice site	rs12769205	0	0.04	0	0.17	0.11	0.06	0.09	0.07
96833165	3499	T > A	Intron	splice site	rs9332121	0	0	0	0	0.03	0	0	0.01
96838628	8963	T > C	Intron		nrs	0	0.05	0	0	0	0	0	0.01
96838697	9032	G > C	Intron		nrs	0	0.10	0.14	0.15	0.15	0.13	0.14	0.12
96838734	9069	G > A	Intron		Novel	0	0.05	0.05	0	0	0	0.05	0.02
96839116	9451	T > C	Intron		rs17443251	0	0.05	0	0	0	0	0.06	0.01
96839976	10311	A > G	Intron		rs9332129	0	0.17	0.15	0.15	0.14	0.13	0.19	0.13
96840012	10347	T > C	Intron		Novel	0	0	0	0	0.03	0	0	0.01
96840200	10535	A > G	Exon 5	H251R (*9)	rs2256871	0.18	0.17	0.05	0.15	0.11	0.06	0	0.11
96840266	10601	wt > delA	Exon 5	K273 fs (*6)	nrs	0.04	0	0	0	0	0.07	0	0.01
96863014	33349	A > G	Intron		rs9332172	0.17	0.23	0.23	0.15	0.28	0.25	0.50	0.26
96863323	33658	A > G	Intron		rs9332174	0.13	0.14	0.27	0.12	0.20	0.19	0.10	0.17
96872080	42415	C > T	Intron		Novel	0	0	0.06	0	0	0	0	0.01
96872134	42469	T > C	Intron		rs9332197	0	0	0.05	0	0	0	0	0.01
96872184	42519	T > C	Exon 7	I327T (*31)	Novel	0.04	0	0	0	0	0	0	0.01
96872284	42619	G > C	Exon 7	D360E (*5)	rs28371686	0	0	0	0	0.02	0.06	0	0.01
96877210	47545	A > T	Intron		rs9332230	0	0	0	0	0	0	0.05	0.01
96877258	47593	T > C	Intron		rs9332232	0.07	0.14	0.05	0.04	0.18	0.17	0.05	0.11
96877304	47639	C > T	Intron		rs2298037	0	0	0	0	0.03	0.06	0	0.01
96879721	50056	A > T	Intron		rs1934969	0.67	0.50	0.50	0.40	0.24	0.13	0.32	0.38
96879790	50125	C > T	Intron		Novel	0	0	0	0	0	0	0.05	0.01
96879861	50196	C > T	Exon 9	A441A	rs2017319	0.04	0.14	0.05	0.04	0.20	0.17	0.05	0.10
96879959	50294	A > G	Exon 9	N474S	Novel	0	0.05	0	0	0	0	0.00	0.01
96879963	50298	A > T	Exon 9	G475G	rs1057911	0	0	0	0	0	0	0.05	0.01
96880006	50341	G > T	Exon 9	V490F (*32)	Novel	0	0	0	0	0	0	0.05	0.01
96880078	50413	C > T	3' UTR		rs9332240	0	0.05	0	0	0.03	0	0.00	0.01
96880099	50434	C > T	3' UTR		rs9332241	0.08	0.05	0	0	0.02	0.13	0.14	0.05
96880166	50501	C > T	3' UTR		rs9332243	0	0.05	0	0	0.03	0.00	0.00	0.01

mRNA position = relative to A of ATG start codon; wt = wild type; del = deletion; UTR = untranslated region; fs = frameshift; (*) = described alleles carrying that particular mutation; nrs = rs number not yet assigned; nd = not determined. Number of individual samples studied per population is indicated in bold in parenthesis.

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ISSN: 1479-7364

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