Frequency of CYP2B6 Alleles
Allele frequency (percentage of individuals with at least one variant allele). Alleles deposited: http://www.imm.ki.se/CYPalleles/.
Position in Reference Sequence | Position in Gene | Position in mRNA | Sequence | Region | Caucasians | African-Americans | Hispanics | Asians | Lang et al., 2001: Caucasians | Corresponding CYP2B6 Allele Nomenclature |
|---|---|---|---|---|---|---|---|---|---|---|
| NG_000008 | NG_000008a | NM_000767a | (n = 86) | (n = 14) | (n = 2) | |||||
| 205958 | -8427 | ttgcc(T/C)gtgtc | 5′UTR | 0 (0%) | 0.22 (31.03%)c | 0.14 (28.57%) | 0 (0%) | |||
| 206178 | -8207 | ggaca(G/C)gctca | 5′UTR | 0.21 (39.54%) | 0.33 (51.72%)c | 0.43 (71.43%) | 0 (0%) | |||
| 212065 | -2320 | cgata(T/C)ctggc | 5′UTR(HNF4) | 0.27 (51.2%) | 0.17 (31.03%)c | 0.21 (28.57%) | 1 (100%) | CYP2B6*1B | ||
| 212607 | -1778 | agcac(A/G)gcaag | 5′UTR | 0.07 (13.95%) | 0 (0%)b | 0.14 (28.57%) | 1 (100%) | |||
| 212807 | -1578 | tcagg(C/T)gt agg | 5′UTR | 0 (0%) | 0.25 (33.33%)b | 0.14 (28.57%) | 0 (0%) | |||
| 212929 | -1456 | tccag(T/C) agaca | 5′UTR | 0.22 (41.9%) | 0.5 (83.33%)b | 0.43 (71.43%) | 0 (0%) | |||
| 213161 | -1224 | tgacc(A/G)cctct | 5′UTR | 0.01 (2.33%) | 0 (0%)b | 0 (0%) | 0 (0%) | CYP2B6*1F | ||
| 213199 | -1186 | tcttg(C/G) tcctc | 5′UTR | 0.07 (13.95%) | 0 (0%)b | 0.14 (28.57%) | 1 (100%) | |||
| 213628 | -757 | catca(C/T)gcccg | 5′UTR(Sp1) | 0 (0%) | 0.25 (33.33%)b | 0.07 (14.29%) | 0 (0%) | |||
| 213635 | -750 | cccgg(T/C)taatt | 5′UTR(HNF1) | 0.48 (74.42%) | 0.83 (100%)b | 0.79 (85.71%) | 1 (100%) | CYP2B6*1G | ||
| 214448 | 64 | 64 | ttcag(C/T)gccac | Exon 1 (R22C) | 0.09 (18.6%) | 0 (0%)b | 0.14 (28.6%) | 0 (0%) | 5.3% | CYP2B6*2A |
| 227124 | 12740 | 216 | ggacc(G/C)aggcc | Exon 2 | 0.09 (18.6%) | 0 (0%)b | 0.14 (28.6%) | 0 (0%) | 7.1% | |
| 227301 | 12917 | ggagt(A/T)tatgg | Intron 2 | 0.08 (16.3%) | 0 (0%)b | 0.14 (28.6%) | 1 (100%) | |||
| 227456 | 13072 | 415 | tggga(A/G)agcgg | Exon 3 (K139E) | 0.01 (2.3%) | 0 (0%)b | 0 (0%) | 0 (0%) | CYP2B6*8 | |
| 228977 | 14593 | agaga(C/G)agaca | Intron 3 | 0.27 (51.2%) | 0.08 (16.7%)b | 0.21 (28.6%) | 1 (100%) | |||
| 229966 | 15582 | cttga(C/T)ctgct | Intron 3 | 0.27 (48.8%) | 0.19 (34.5%)c | 0.21 (28.7%) | 1 (100%) | |||
| 230015 | 15631 | 516 | ttcca(G/T)tccat | Exon 4 (Q172H) | 0.22 (41.9%) | 0.28 (48.3%)c | 0.43 (71.4%) | 0 (0%) | 28.6% | CYP2B6*9 |
| (38.6)d | ||||||||||
| 232054 | 17670 | gaaag(G/A)agaga | Intron 4 | 0 (0%) | 0.33 (33.3%)b | 0.14 (14.3%) | 0 (0%) | |||
| 232139 | 17755 | agata(G/C)atcaa | Intron 4 | 0 (0%) | 0.33 (33.3%)b | 0.14 (14.3%) | 0 (0%) | |||
| 232281 | 17897 | cacca(C/T)ccctt | Intron 4 | 0 (0%) | 0.33 (33.3%)b | 0.14 (14.3%) | 0 (0%) | |||
| 232384 | 18000 | 732 | gctta(C/T)attgg | Exon 5 | 0.01 (2.3%) | 0 (0%)b | 0 (0%) | 0 (0%) | ||
| 232437 | 18053 | 785 | cccca(A/G)ggacc | Exon 5 (K262R) | 0.04 (4.7%) | 0.17 (16.7%)b | 0.14 (14.3%) | 0 (0%) | 32.6% | CYP2B6*4 |
| 233011 | 18627 | tgggc(G/A)tatac | Intron 5 | 0 (0%) | 0.17 (33.3%)b | 0.07 (14.3%) | 0 (0%) | |||
| 235587 | 21203 | cccat(A/G)gccct | Intron 7 | 0.05 (9.3%) | 0 (0%)b | 0.07 (14.3%) | 0 (0%) | |||
| 235947 | 21563 | tatcc(C/T)caact | Intron 8 | 0.21 (39.5%) | 0.50 (83.3%)b | 0.43 (71.4%) | 0 (0%) | |||
| 239625 | 25241 | tgcaa(A/G)tctgt | Intron 8 | 0.09 (18.6%) | 0.02 (3.5%)c | 0.14 (28.6%) | 0 (0%) | |||
| 239889 | 25505 | 1459 | agatc(C/T)gcttc | Exon 9 (R487C) | 0.13 (25.6%) | 0.09 (17.2%)c | 0 (0%) | 0 (0%) | 14% |
CYP2B6*5
|
↵ a Position is with respect to the translation start site of the CYP2B6 gene; the A in ATG is +1 and the base immediately 5′ is -1.
↵ b,c Number of alleles screened: b58; c12.
↵ d Ariyoshi et al., 2001: G516T had a frequency of 0.20 (38.6%) in a Japanese population.