CYP2E1 allele nomenclature

Allele Protein Nucleotide changes,
gene
RFLP Effect Enzyme activity References
In_vivo In_vitro
CYP2E1*1A CYP2E1.1 None     Normal Normal Umeno et al, 1988
CYP2E1*1B CYP2E1.1 9896C>G TaqI-       McBride et al, 1987
Brockmöller et al, 1996
CYP2E1*1C CYP2E1.1 6 repeats in the 5' flanking region         Hu et al, 1999
CYP2E1*1D CYP2E1.1 8 repeats in the 5' flanking region DraI and XbaI   Incr. activity after alcohol exposure and in obese subjects   Hu et al, 1999
McCarver et al, 1998
CYP2E1*2 CYP2E1.2 1132G>A   R76H   Reduced Hu et al, 1997
CYP2E1*3 CYP2E1.3 10023G>A   V389I   Normal Hu et al, 1997
CYP2E1*4 CYP2E1.4 4768G>A   V179I   Normal Fairbrother et al, 1998
CYP2E1*5A CYP2E1.1 -1293G>C; -1053C>T (c1>c2); 7632T>A PstI+ RsaI- DraI-       Watanabe et al, 1990
Hayashi et al, 1991
Persson et al, 1993
CYP2E1*5B CYP2E1.1 -1293G>C; -1053C>T (c1>c2) PstI+ RsaI-        Watanabe et al, 1990
Hayashi et al, 1991
CYP2E1*6 CYP2E1.1 7632T>A DraI-       Persson et al, 1993
CYP2E1*7A CYP2E1.1 -333T>A         Fairbrother et al, 1998
CYP2E1*7B CYP2E1.1 -71G>T; -333T>A         Fairbrother et al, 1998
CYP2E1*7C CYP2E1.1 -333T>A; -352A>G         Fairbrother et al, 1998
Additional SNPs, where the haplotype has not yet been determined
    6431C>A         Itoga et al., 1999
    9630T>G         Saito et al., 2003
    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         Solus et al., 2004
    11112A>T   H457L     Solus et al., 2004

Changes made since the last update (27-Feb-2006) are marked in red.

Allele frequencies: Solus et al., 2004

Links to the NCBI dbSNP homepage are available for functional SNPs when present in NCBI's database.
Nucleotide variations in bold are the major SNPs/alterations responsible for the phenotype of the corresponding allele.

Note about CYP2E1 nomenclature
Unfortunately two different nomenclature systems were developed for the CYP2E1 alleles simultaneously. The authors of both nomenclature systems have agreed in July 2000 that the nomenclature system given in this homepage should be the recommended one, see Ingelman-Sundberg et al. 2001.

Below is a table which will facilitate conversion between the two systems.

Recommended nomenclature on the homepage 
(see above)
Nomenclature proposed by 
Garte and Crosti, 1999
CYP2E1*1A CYP2E1*1
CYP2E1*1B CYP2E1*2
CYP2E1*5B CYP2E1*3
CYP2E1*6 CYP2E1*4
not included CYP2E1*5
not included CYP2E1*6

OMIM GeneCards

Home Page Inclusion criteria CYP1A1 CYP1A2 CYP1B1 CYP2A6 CYP2A13 CYP2B6 CYP2C8 CYP2C9 CYP2C19 CYP2D6 CYP2E1 CYP2J2 CYP2R1 CYP2S1 CYP3A4 CYP3A5 CYP3A7 CYP3A43 CYP4A11 CYP4A22 CYP4B1 CYP5A1 CYP8A1 CYP19A1 CYP21A2

 This page was updated 17-May-2006 by Sarah C Sim
Questions and comments are always welcome