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., in press
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 (13-Nov-2007) 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

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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 17-Oct-2012 by Sarah C Sim
Questions and comments are always welcome