Table 1.
CYP2E1 alleles (www.pharmvar.org/gene/CYP2E1) (accessed 11 December 2019)
| Allele | Protein | Nucleotide changes, Gene |
Effect | Enzyme activity | |
|---|---|---|---|---|---|
| CYP2E1*1A | CYP2E1.1 | None | In vivo | In vitro | |
| CYP2E1*1B | CYP2E1.1 | 9896C>G | Normal | Normal | |
| CYP2E1*1C | CYP2E1.1 | 6 repeats in the 5’ flanking region | |||
| CYP2E1*1Cx2 | CYP2E1.1 | ||||
| CYP2E1*1D | CYP2E1.1 | 8 repeats in the 5’ flanking region | Increased activity after alcohol exposure and in obese subjects | ||
| CYP2E1*2 | CYP2E1.2 | 1132G>A | R76H | Reduced | |
| CYP2E1*3 | CYP2E1.3 | 10023G>A | V389I | Normal | |
| CYP2E1*4 | CYP2E1.4 | 4768G>A | V179I | Normal | |
| CYP2E1*5A | CYP2E1.1 | −1293G>C; −1053C>T (c1>c2); 7632T>A | |||
| CYP2E1*5B | CYP2E1.1 | −1293G>C; −1053C>T (c1>c2) | |||
| CYP2E1*6 | CYP2E1.1 | 7632T>A | |||
| CYP2E1*7A | CYP2E1.1 | −333T>A | |||
| CYP2E1*7B | CYP2E1.1 | −71G>T; −eeeT>A | |||
| CYP2E1*7C | CYP2E1.1 | −333T>A; −352A>G | |||
| Additional SNVs, where the haplotype has not yet been determined | |||||
| 6431C>A | |||||
| 9630T>G | |||||
| 1031C>T; 1199G>A; 1316C>T; 4451C>G; 4486G>T; 4529C>T; 4696G>A; 4845T>C; 4904T>C; 5625G>A; 6317C>T; 9745C>T; 9987C>G; 11024C>G; 11276T>C; 11356A>C | |||||
| 11112A>T | H457L | ||||