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*1Cx2

CYP2E1.1

 

 

 

 

 

Martis et al., 2013

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 (17-Oct-2012) 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 CYP2F1 CYP2J2
CYP2R1
CYP2S1 CYP2W1 CYP3A4 CYP3A5 CYP3A7 CYP3A43 CYP4A11 CYP4A22 CYP4B1 CYP4F2 CYP5A1 CYP8A1 CYP19A1 CYP21A2 CYP26A1 POR

This page was updated 21-Jan-2014 by Sarah C Sim
Questions and comments are always welcome