CYP1A1 allele nomenclature

Allele

Protein

Nucleotide changes,
Gene

Trivial name

Effect

Enzyme activity

References

In vivo

In vitro

CYP1A1*1

CYP1A1.1

None

Wild-type

 

Normal

Normal

Jaiswal et al., 1985a
Jaiswal et al., 1985b
Kawajiri et al., 1986

CYP1A1*2A

CYP1A1.1

3798T>C (MspI)

m1

 

 

 

Bale et al., 1987
Spurr et al., 1987

CYP1A1*2B

CYP1A1.2

2454A>G; 3798T>C (MspI)

 

I462V

 

 

Hayashi et al., 1991

CYP1A1*2C

CYP1A1.2

2454A>G

m2

I462V

 

Normal

Hayashi et al., 1991
Zhang et al., 1996
Persson et al., 1997

CYP1A1*3

CYP1A1.1

3204T>C

m3

 

 

 

Crofts et al., 1993 

CYP1A1*4

CYP1A1.4

2452C>A

m4

T461N

 

 

Cascorbi et al., 1996

CYP1A1*5

CYP1A1.5

2460C>A

 

R464S

 

 

Chevalier et al., 2001

CYP1A1*6

CYP1A1.6

1635G>T

 

M331I

 

 

Chevalier et al., 2001

CYP1A1*7

 

2345_2346insT

 

426Frameshift

 

 

Saito et al., 2003

CYP1A1*8

CYP1A1.8

2413T>A

 

I448N

 

 

Saito et al., 2003

CYP1A1*9

CYP1A1.9

2460C>T

 

R464C

 

 

Saito et al., 2003

CYP1A1*10

CYP1A1.10

2499C>T

 

R477W

 

 

Saito et al., 2003

CYP1A1*11

CYP1A1.11

2545C>G

 

P492R

 

 

Saito et al., 2003

Additional SNPs, where the haplotype has not yet been determined

 

 

-33T>C; 513A>C; 2216C>T;

2958C>T; 3324G>T; 3325G>C; 3422C>A

 

 

 

 

Solus et al., 2004

 

 

233T>C

 

I78T

 

 

Solus et al., 2004

 

 

18C>G

 

T173R

 

 

Solus et al., 2004

 

 

2515G>A

 

V482M

 

 

Solus et al., 2004

 

 

322C>A

 

D108Y

 

 

Jorge-Nebert et al., 2010

 

 

262C>T

 

G88S

 

 

Jorge-Nebert et al., 2010

 

 

134C>T

 

G45D

 

 

Jorge-Nebert et al., 2010

Changes made since the last update (5-Dec-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.

OMIM GeneCards

 

Note about CYP1A1 nomenclature
Unfortunately two different nomenclature systems were developed for the CYP1A1 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. More information has been published in
Cancer Epidemiology Biomarkers and Prevention.

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

CYP1A1*1

CYP1A1*1

CYP1A1*2A

CYP1A1*2

CYP1A1*2C

CYP1A1*3

CYP1A1*3

CYP1A1*4

CYP1A1*4

CYP1A1*5


 


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 22-Dec-2009 by Sarah C Sim
Questions and comments are always welcome