CYP2B6 variants
CYP2B6 Allele | Variant | cDNA Sequence Mutation | Protein Sequence Mutationa | Allele Frequency (%) |
---|---|---|---|---|
CYP2B6*1 | Wild-type | Wild-type | ||
CYP2B6*4 | rs2279343 | 785A>G | K262R | 2-4 Ca |
CYP2B6*5 | rs3211371 | 1459C>T | R487C | 12 Ca |
CYP2B6*6 | rs3745274, rs2279343 | 516G>T, 785A>G | Q172H/K262R | 33 Af, 28 Ca |
CYP2B6*7 | rs3745274, rs2279343, rs3211371 | 515G>T, 785A>G, 1459C>T | Q172H/K262R/R487C | 3 Ca |
CYP2B6*9 | rs3745274 | 516G>T | Q172H | |
CYP2B6*16 | rs2279343, rs28399499 | 785A>G, 983T>C | K262R/I328T | 6.9 Af |
CYP2B6*17 | rs33973337, rs33980385, rs33926104 | 76A>T, 83A>G, 85C>A, 86G>C | T26S/D28G/R29T | 6.3 Af |
CYP2B6*18 | rs28399499 | 983T>C | I328T | 9.4 Af |
CYP2B6*19 | rs34826503 | 516G>T, 785A>G, 1006C>T | Q172H/K262R/R336C | 1.6 Af |
CYP2B6*26 | rs3826711, rs2279343, rs3745274 | 499C>G, 516G>T, 785A>G | P167A/Q172H/K262R | 1.3 As |
Af, African; As, Asian; Ca, Caucasian.
↵a All CYP2B6 variants result in missense mutations.