TABLE 2.
Frequencies and putative functional consequences of other important CYP allelesa
| Allele | Defining variant(s) | Variant type (mutation[s]) | Allele frequency (%) |
Functional consequence | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Gabon | Africa | ESN | GWD | LWK | MSL | YRI | Global | ||||
| CYP2A6 | |||||||||||
| *1 | None | None | 55.2 | Neutral | |||||||
| *17 | rs28399454 | Missense (V365M) | 7.3 | 10.5 | 12.6 | 14.6 | 5.6 | 11.2 | 13.4 | 3.2 | Decreased |
| *18 | rs1809810 | Missense (Y392F) | 1 | 0.5 | 0 | 0.4 | 1 | 1.8 | 5 | 1.4 | Decreased |
| *20 | rs568811809 | Frameshift | 4.2 | 1.5 | 2.0 | 2.7 | 0 | 0.6 | 1.4 | 0.3 | Loss of function |
| *23 | rs56256500 | Missense (R203C) | 1 | 1.2 | 4.5 | 0.4 | 1 | 0.6 | 1.4 | 0.5 | Decreased |
| *25 | rs28399440 | Missense (F118L) | 1 | 1.3 | 2.5 | 0.9 | 0 | 1.2 | 3.7 | 0.5 | Unknown |
| *28 | rs8192730, rs28399463 | Missense (N418D, E419D) | 3.1 | 2.4 | NA | NA | NA | NA | NA | 0.7 | Unknown |
| *31 | rs72549432 | Missense (M6L) | 7.3 | 1.4 | 1 | 0.4 | 2 | 0.6 | 0.5 | 0.3 | Unknown |
| *35 | rs143731390 | Missense (N438Y) | 4.2 | 1.8 | NA | NA | NA | NA | NA | 5.5 | Decreased |
| Novel alleles | Various combinations | 15.6 | NA | Unknown | |||||||
| CYP2B6 | |||||||||||
| *1 | None | None | 54 | Neutral | |||||||
| *2 | rs8192709 | Missense (R22C) | 6.3 | 3.8 | 1 | 4.9 | 8.1 | 3.5 | 4.6 | 4.8 | Neutral |
| *4 | rs2279343 | Missense (K262R) | 0 | 2.4 | NA | NA | NA | NA | NA | 1.5 | Increased |
| *5 | rs3211371 | Missense (R487C) | 1 | 2.6 | 0 | 1.3 | 0 | 2.4 | 0.9 | 5.4 | Neutral |
| *6 | rs3745274, rs2279343 | Missense (Q172H, K262R) | 23 | 21.7 | NA | NA | NA | NA | NA | 13.2 | Decreased |
| *9 | rs3745274 | Missense (Q172H) | 0 | 15.4 | NA | NA | NA | NA | NA | 13.9 | Decreased |
| *17 | rs33973337, rs33980385, rs33926104, rs34284776 | Missense (T26S, D28G, R29T) | 1 | 6.5 | NA | NA | NA | NA | NA | NA | Decreased |
| *18 | rs2279343, rs28399499 | Missense (K262R, I328T) | 6.3 | 6.5 | NA | NA | NA | NA | NA | NA | Decreased |
| Novel alleles | Various combinations | 5.2 | NA | Unknown | |||||||
| CYP2C8 | |||||||||||
| *1 | None | None | 82.3 | Neutral | |||||||
| *2 | rs11572103 | Missense (I269F) | 16.7 | 14.6 | 19.7 | 23.5 | 13.6 | 17.1 | 19.9 | 5.5 | Decreased |
| *7 | rs72558195 | Stop-gain (R186X) | 1 | <0.1 | 0 | 0 | 0 | 0 | 0 | <0.1 | Loss of function |
| CYP2C19 | |||||||||||
| *1 | None | None | 78b | Neutral | |||||||
| *2 | rs4244285 | Splicing defect | 14.6 | 17 | 20.7 | 13.3 | 21.2 | 17.7 | 16.7 | 22.2 | Loss of function |
| *9 | rs17884712 | Missense (R144H) | 4.2 | 1.4 | 1 | 1.3 | 1 | 1.8 | 0.5 | 0.3 | Decreased |
| *13 | rs17879685 | Missense (R410C) | 3.1 | 1.7 | 0 | 2.7 | 4.0 | 0.6 | 1.9 | 0.6 | Neutral |
| *30 | rs145328984 | Missense (R73C) | 1 | 0.1 | 0.5 | 0 | 0 | 0 | 0 | 0 | Unknown |
| CYP3A4 | |||||||||||
| *1 | None | None | 95.9 | Neutral | |||||||
| *10 | rs4986908 | Missense (D174H) | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0.2 | Unknown |
| *12 | rs12721629 | Missense (L373F) | 1 | 0.4 | 0.5 | 0 | 2 | 0 | 0 | 0.1 | Unknown |
| *15 | rs4986907 | Missense (R162Q) | 2.1 | 1.7 | 0.5 | 2.2 | 0.5 | 1.8 | 4.2 | 0.5 | Unknown |
a
All star alleles identified in the Gabonese population are shown. YRI, Yoruba in Ibadan in Nigeria; LWK, Luhya in Webuye in Kenya; GWD, Gambians in Western Divisions in the Gambia; MSL, Mende in Sierra Leone; ESN, Esan in Nigeria; NA, no information available in the 1000 Genomes Project data set.
b
CYP2C19*1 frequencies are likely overestimated due to the lack of CYP2C19*17 data.