Table 5.
Important variant and allele frequencies of the human CYP3A gene family.
| Allele | Defining variants | Variant type | Functional consequence | European | AJ | Asian | AFR | AMR | ME | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall | SE | NWE | FIN | EAS | JP | KR | SAS | ||||||||
| CYP3A4 | |||||||||||||||
| *1 | None | Normal | 94.7 | 98.4 | 93.9 | 93.4 | 91 | 97.5 | 93.4 | 98.2 | 99.4 | 96.2 | 97.1 | 98.1 | |
| *2 | rs55785340 | Missense (S222P) | <0.1 | 0 | <0.1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| *3 | rs4986910 | Missense (M445T) | 0.7 | 0.6 | 0.7 | 1.8 | <0.1 | 0 | 0 | 0 | <0.1 | <0.1 | 0.2 | 0 | |
| *4 | rs55951658 | Missense (I118V) | 0 | 0 | 0 | 0 | 0 | 0.5 | 0 | 0.2 | <0.1 | 0 | <0.1 | 0 | |
| *8 | rs72552799 | Missense (R130Q) | Decreased | 0.1 | <0.1 | <0.1 | 0.2 | 0 | 0 | 0 | 0 | <0.1 | <0.1 | <0.1 | 0 |
| *15 | rs4986907 | Missense (R162Q) | <0.1 | <0.1 | <0.1 | 0 | <0.1 | 0 | 0 | 0 | <0.1 | 2.6 | 0.2 | 0.3 | |
| *16 | rs12721627 | Missense (T185S) | Decreased | 0 | 0 | 0 | 0 | 0 | <0.1 | 3.9 | 0.3 | 0 | 0 | 0 | 0 |
| *18 | rs28371759 | Missense (L293P) | Decreased | 0 | 0 | 0 | 0 | 0 | 1.9 | 2.6 | 1.4 | <0.1 | 0.1 | <0.1 | 0 |
| *22 | rs35599367 | Splicing defect | Decreased | 4.4 | 0.9 | 5.4 | 3.6 | 9 | 0 | 0 | 0 | 0.6 | 0.9 | 2.5 | 1.6 |
| CYP3A5 | |||||||||||||||
| *1 | None | Normal | 6.4 | 12.6 | 6.4 | 6.8 | 9.9 | 28.6 | 26 | 23.5 | 33.2 | 47 | 19.5 | 8.5 | |
| *2 | rs28365083 | Missense (T398N) | 0.6 | 0.4 | 0.6 | 0.2 | <0.1 | 0 | 0 | 0 | 0 | 0.1 | 0.1 | 0 | |
| *3 | rs776746 | Splicing defect | Inactive | 92.9 | 86.8 | 92.9 | 93 | 90 | 71.4 | 74 | 76.5 | 66.8 | 29.8 | 79.2 | 88 |
| *6 | rs10264272 | Splicing defect | Inactive | <0.1 | 0.2 | <0.1 | <0.1 | 0 | 0 | 0 | 0 | <0.1 | 12.9 | 0.8 | 3.5 |
| *7 | rs41303343 | Frameshift | Inactive | <0.1 | <0.1 | <0.1 | 0 | 0 | <0.1 | 0 | 0 | <0.1 | 10.2 | 0.5 | 0 |
AFR African, EAS East Asian, SAS South Asian, AMR admixed Americans, FIN Finnish, AJ Ashkenazi Jewish, ME Middle Eastern, SE South European, NWE Northwest European, JP Japanese, KR Korean.