Table 1.

Coding region SNPs in CYP3A4.

Allele	variant (cDNA)	Amino acid change	Key SNP rs#	Gene location	MAF				In vitro effect	In vivo effect	Ref
					Caucasian	African American	Asian	All (ESP)
*2	664 T>C	S222P	rs55785340	Exon 7	0.027	0	0		Decreased activity		[44]
*3	1334 T>C	M445T	rs4986910	Exon 12	0–0.04	0–0.033	0		No change		[43,45,46,47]
*4	352 A>G	I118V	rs55951658	Exon 5			0.015–0.033			Decreased activity, associated with LDL	[50,51]
*5	653 C>G	P218R	rs55901263	Exon 7	0	0	0.006			Decreased activity	[50]
*6	830_831 insA	277 frameshift	rs4646438	Exon 9			0.005			No activity	[50]
*7	167 G>A	G56D	rs56324128	Exon 3	0.014				Decreased activity		[43,44]
*8	389 G>A	R130Q	rs72552799	Exon 5	0.0033				No protein		[43]
*9	508 G>A	V170I	rs72552798	Exon 6	0.0024				No change		[43]
*10	520 G>C or G>A	D174H or D174N	rs4986908	Exon 6	0.003 for C		0.012 for A		No change		[21,43]
*11	1088 C>T	T363M	rs67784355	Exon 11	0.0034		0.002	0.001	Decreased protein level and activity		[43,49]
*12	I117 C>T	L373F	rs12721629	Exon 11	0–0.004	0.004–0.007	0	0.001	Decreased protein level and activity		[43]
*13	1247 C>T	P416L	rs4986909	Exon 11	0–0.004	0–0.021	0–0.012		No protein		[43]
*14	44 T>C	L15P	rs12721634	Exon 1				0–0.003			[21]
*15	485 G>A	R162Q	rs4986907	Exon 6	0	0–0.042	0	0.014			[21]
*16	554 C>G	T185S	rs12721627	Exon 7			0.014	0.005	Decreased protein level and activity		[44,48,49]
*17	566 T>C	F189S	rs4987161	Exon 7	0–0.017	0	0		Decreased activity		[45]
*18	878 T>C	L293P	rs28371759	Exon 10			0.028	0.01	No change or increased activity	Low midazolam clearance, associated with bone density	[44,45,48,49,52,53,54,55]
*19	1399 C>T	P467S	rs4986913	Exon 12	0–0.022	0	0–0.012		No change		[45]
*20	1461_1462 insA	488 frameshift	rs7666821	Exon 13	<0.006				No activity	Low midazolam clearance	[56]
*21	956 A>G	Y319C		Exon 10			0.005				[21]