Table 2.
Important variant and allele frequencies of the human CYP2B6 gene
| Allele | Defining variants | Variant type | Allele frequencies in indicated populations, % | Functional consequence | ||||
|---|---|---|---|---|---|---|---|---|
| EUR | AFR | EAS | SAS | AMR | ||||
| *1 | None | 61.1 | 37.9 | 75.5 | 45 | 57.8 | Normal | |
| *2 | rs8192709 | Missense (R22C) | 4.9 | 3.7 | 4.5 | 3.0 | 2.9 | |
| *3 | rs45482602 | Missense (S259R) | <0.1 | <0.1 | 0 | 0.3 | 0.1 | |
| *4 | rs2279343 | Missense (K262R) | 0.4 | 0.6 | 0.3 | 1.8 | 0.3 | Increasedb |
| *5 | rs3211371 | Missense (R487C) | 12.8 | 2.6 | 0.1 | 8.2 | 4.5 | |
| *6 | rs2279343, rs3745274 | Missense (K262R, Q172H) | 3.4 | 5.8 | 2.7 | 15.8 | 3 | Decreased |
| *7 | rs2279343, rs3745274, rs3211371 | Missense (K262R, Q172H, R487C) | 0 | 0 | 0 | 0 | 0 | |
| *8 | rs12721655 | Missense (K139E) | <0.1 | <0.1 | 0 | <0.1 | <0.1 | Decreaseda |
| *9 | rs3745274 | Missense (Q172H) | 15.6 | 30.9 | 16 | 23.2 | 29 | |
| *10 | rs8192709, rs34883432 | Missense (R22C, Q21L) | <0.1 | <0.1 | 0 | 0.1 | 0.3 | |
| *11 | rs35303484 | Missense (M46V) | <0.1 | 0.1 | 0 | 0.2 | 0.1 | Decreaseda |
| *12 | rs36060847 | Missense (G99E) | 0 | <0.1 | 0 | 0 | <0.1 | Decreaseda |
| *13 | rs2279343, rs3745274, rs12721655 | Missense (K262R, Q172H, K139E) | <0.1 | <0.1 | 0 | <0.1 | <0.1 | |
| *14 | rs35773040 | Missense (R140Q) | 0.5 | <0.1 | <0.1 | 0.3 | <0.1 | Decreaseda |
| *15 | rs35979566 | Missense (I391N) | 0.2 | 0.2 | 0 | <0.1 | 0.2 | Decreaseda |
| *16 | rs2279343 & rs28399499 | Missense (I328T) | 0 | 6.5 | 0 | <0.1 | 0.3 | Decreased |
| *17 | rs33973337, rs33980385, rs33926104 | Missense (T26S, D28G, R29T) | 0 | <0.1 | 0 | 0 | 0 | |
| *18 | rs28399499 | Missense (I328T) | 0 | 7.1 | 0 | <0.1 | 0.3 | Decreaseda |
| *19 | rs34826503 | Missense (R336C) | 0 | 0.3 | <0.1 | 0 | <0.1 | Decreaseda |
| *20 | rs36056539 | Missense (T168I) | 0 | 0.1 | 0 | 0 | <0.1 | Decreaseda |
| *21 | rs35010098 | Missense (P428T) | 0 | <0.1 | 0 | 0 | 0 | Decreaseda |
| *22 | rs34223104 | Regulatory | 0.9 | 3.6 | 0.2 | 1.8 | 0.7 | Increaseda |
| *23 | rs3211369 | Missense (M459V) | 0 | 0 | <0.1 | <0.1 | 0 | |
| *26 | rs2279343, rs3745274, rs3826711 | Missense (K262R, Q172H, P167A) | 0 | 0 | 0.5 | 0 | 0 | Decreasedb |
| *27 | rs36079186 | Missense (M198T) | 0 | 0.2 | 0 | 0.1 | <0.1 | Decreaseda |
| *28 | rs34097093 | Stop‐gain (R378X) | 0 | <0.1 | 0 | 0 | <0.1 | Inactive |
AFR, Africans; AMR, admixed Americans; CYP, cytochrome P450; EAS, East Asians; EUR, Europeans; SAS, South Asians.
For references describing the functional characterization of the indicated alleles, see http://www.cypalleles.ki.se.
a
Indicates alleles whose functionality assessment is based solely on in vitro data.
b
Indicates alleles whose functionality assessment is based solely on in vivo data.