Position in Gene | Position in mRNA | Nucleotide Change | Amino Acid Change | Koreans | Japanese (Hiratsuka et al., 2002) | Caucasians | African-Americans (Lamba et al., 2003) | Hispanics (Lamba et al., 2003) | ||
---|---|---|---|---|---|---|---|---|---|---|
Lamba et al. (2003) | Hesse et al. (2004) | |||||||||
NG_000008a | NM_000767a | (n = 530) | (n = 86) | (n = 96) | (n = 14) | |||||
-8427 | T>C | 0b | 0 | 0.22 | 0.14 | |||||
-8207 | G>C | 0.14b | 0.21 | 0.33 | 0.43 | |||||
-2320 | T>C | 0.47c,* | 0.27 | 0.31 | 0.17 | 0.21 | ||||
-1778 | A>G | 0.21c,* | 0.07 | 0.08 | 0 | 0.14 | ||||
-1456 | T>C | 0.15c | 0.22 | 0.25 | 0.5 | 0.43 | ||||
-1186 | C>G | 0.21c,* | 0.07 | 0.08 | 0 | 0.14 | ||||
-750 | T>C | 0.62b,* | 0.48 | 0.57 | 0.83 | 0.79 | ||||
64 | 64 | C>T | R22C | 0.03c,* | 0.05 | 0.09 | 0 | 0.14 | ||
13072 | 415 | A>G | K139E | 0c | 0.01 | 0 | 0 | |||
15582 | C>T | 0.47b,* | 0.27 | 0.19 | 0.21 | |||||
15631 | 516 | G>T | Q172H | 0.14c,* | 0.16 | 0.22 | 0.25 | 0.28 | 0.43 | |
18045 | 777 | C>A | S259R | 0d | 0 | 0 | 0 | 0 | ||
18053 | 785 | A>G | K262R | 0.19c,*,† | 0.26 | 0.04 | 0.26 | 0.17 | 0.14 | |
25505 | 1459 | C>T | R487C | 0.01c,* | 0.01 | 0.13 | 0.11 | 0.09 | 0 |
*p < 0.05, compared to Caucasians (Lamba et al., 2003); † p < 0.05, compared to Japanese (Hiratsuka et al., 2002). n = total number of alleles evaluated.
↵ a Nucleotide numbering starts from the translation start site of the CYP2B6 gene, the A in ATG being +1 and the immediate 5′ base from A in ATG being -1.
↵ b Number of alleles screened: 316
↵ c Number of alleles screened: 716
↵ d Number of alleles screened: 400.