Table 2. Position, effects, and... | American Society of Hematology

Table 2.

Position, effects, and frequencies of screened SNPs in the 28 subjects

Allele	Nucleotide change*	Effect of the mutant allele	Enzyme activity in vivo	Genotype frequency†	Allele frequency‡
CYP2C19*2	681G>A (rs4244285)	681A: cryptic splicing site	None	GG (20); GA (8); AA (0)	G (85.7); A (14.3)
CYP3A5*3	6986G>A (rs776746)	6986G: alternative splicing	None	GG (27); GA (1); AA (0)	G (98.2); A (1.8)
CYP2B6*5	1459C>T (rs3211371)	Amino acid substitution; Arg487Cys	Decreased	CC (23); CT (5); TT (0)	C (91.1); T (8.9)
CYP1A2*1F	-164A>C (rs762551)	Promoter regulation?	Decreased	AA (13); AC (13); CC (2)	A (69.7); C (30.3)

Allele	Nucleotide change*	Effect of the mutant allele	Enzyme activity in vivo	Genotype frequency†	Allele frequency‡
CYP2C19*2	681G>A (rs4244285)	681A: cryptic splicing site	None	GG (20); GA (8); AA (0)	G (85.7); A (14.3)
CYP3A5*3	6986G>A (rs776746)	6986G: alternative splicing	None	GG (27); GA (1); AA (0)	G (98.2); A (1.8)
CYP2B6*5	1459C>T (rs3211371)	Amino acid substitution; Arg487Cys	Decreased	CC (23); CT (5); TT (0)	C (91.1); T (8.9)
CYP1A2*1F	-164A>C (rs762551)	Promoter regulation?	Decreased	AA (13); AC (13); CC (2)	A (69.7); C (30.3)

Numbers in parentheses are dbSNP accession nos.

Number of patients is given parenthetically.

Numbers in parentheses are percentages.