CYP1A2 allele nomenclature

 

Allele

Protein

Nucleotide changes, Gene*

*Position 5347 should have a T instead of a C to be considered *1A.

Trivial name

Effect

Enzyme activity

References

In vivo

In vitro

CYP1A2*1A

CYP1A2.1

None

Wild-type

 

Normal

Normal

Ikeya et al, 1989
Quattrochi and Tukey, 1989 

CYP1A2*1B

CYP1A2.1

5347T>C

 

 

 

 

Nakajima et al, 1994
Welfare et al, 1999

CYP1A2*1C

CYP1A2.1

-3860G>A

 

 

Decreased

 

Nakajima et al, 1999

CYP1A2*1D

CYP1A2.1

-2467delT

 

 

 

 

Japanese patent number 05719026
Chida et al, 1999

CYP1A2*1E

CYP1A2.1

-739T>G

 

 

 

 

Japanese patent number 05719026
Chida et al, 1999

CYP1A2*1F

CYP1A2.1

-163C>A

There is confusion about the definition of the CYP1A2*1F allele in the literature. Please observe that according to the Human CYP-allele Nomenclature Committee the CYP1A2*1F allele is defined as having -163A.

 

 

Higher inducibility

 

Japanese patent number 05719026
Sachse et al, 1999
Chida et al, 1999
Han et al., 2002
Sim et al., 2013

CYP1A2*1G

CYP1A2.1

-739T>G; 5347T>C

 

 

 

 

Chevalier et al, 2001

CYP1A2*1H

CYP1A2.1

2025A>C; 5347T>C

 

 

 

 

Chevalier et al, 2001

CYP1A2*1J

CYP1A2.1

-739T>G; -163C>A 

 

 

 

 

Aklillu et al, 2003

CYP1A2*1K

CYP1A2.1

-739T>G; -729C>T;
-163C>A 

 

 

Decr

 

Aklillu et al, 2003

CYP1A2*1L Predicted haplotype

CYP1A2.1

-3860G>A; -2467delT;
-163C>A; 5347T>C

 

 

 

 

Soyama et al., 2005

CYP1A2*1M Predicted haplotype

CYP1A2.1

-163C>A; 2159G>A

 

 

 

 

Soyama et al., 2005

CYP1A2*1N Predicted haplotype

CYP1A2.1

-3594T>G; -2467delT;
-163C>A; 2321G>C; 5521A>G; 5347T>C

 

 

 

 

Soyama et al., 2005

CYP1A2*1P Predicted haplotype

CYP1A2.1

-3594T>G; -2467delT;
-733G>C; -163C>A; 2321G>C; 5521A>G; 5347T>C

 

 

 

 

Soyama et al., 2005

CYP1A2*1Q Predicted haplotype

CYP1A2.1

-2808A>C; -163C>A; 2159G>A

 

 

  

 

Soyama et al., 2005

CYP1A2*1R Predicted haplotype

CYP1A2.1

-3594T>G; -2467delT;
-367C>T; -163C>A; 2321G>C; 5521A>G; 5347T>C

 

 

 

 

Soyama et al., 2005

CYP1A2*1S Predicted haplotype

CYP1A2.1

-3053A>G; 5347T>C

 

 

 

 

Soyama et al., 2005

CYP1A2*1T Predicted haplotype

CYP1A2.1

-2667T>G; 5347T>C

 

 

 

 

Soyama et al., 2005

CYP1A2*1U Predicted haplotype

CYP1A2.1

678C>T; 5347T>C

 

 

 

 

Soyama et al., 2005

CYP1A2*1V Predicted haplotype

CYP1A2.1

-2467delT; -163C>A

 

 

 

 

Ghotbi et al., 2007

CYP1A2*1W Predicted haplotype

CYP1A2.1

-3113A>G; -2467delT;
-739T>G; -163C>A
 

 

 

 

 

Ghotbi et al., 2007

CYP1A2*2

CYP1A2.2

63C>G

 

F21L

 

 

Huang et al, 1999

CYP1A2*3

CYP1A2.3

2116G>A; 5347T>C

 

D348N

Decr expr

 

Chevalier et al, 2001
Zhou et al., 2004

CYP1A2*4

CYP1A2.4

2499A>T

 

I386F

Decr expr

 

Chevalier et al, 2001
Zhou et al., 2004

CYP1A2*5

CYP1A2.5

3496G>A

 

C406Y

 

 

Chevalier et al, 2001

CYP1A2*6

CYP1A2.6

5090C>T

 

R431W

Abolished expr

 

Chevalier et al, 2001
Zhou et al., 2004

CYP1A2*7

 

3533G>A

 

Splicing defect 

Decr

 

Allorge et al, 2003

CYP1A2*8

CYP1A2.8

5166G>A; 5347T>C

 

R456H

 

Decr

Soyama et al., 2005
Saito et al., 2005

CYP1A2*9

CYP1A2.9

248C>T

 

T83M

 

 

Murayama et al, 2004

CYP1A2*10

CYP1A2.10

502G>C

 

E168Q

 

 

Murayama et al, 2004

CYP1A2*11

CYP1A2.11

558C>A

 

F186L

 

 Decr

Murayama et al, 2004

CYP1A2*12

CYP1A2.12

634A>T

 

S212C

 

 

Murayama et al, 2004

CYP1A2*13

CYP1A2.13

1514G>A

 

G299S

 

 

Murayama et al, 2004

CYP1A2*14

CYP1A2.14

5112C>T

 

T438I

  

 

Murayama et al, 2004

CYP1A2*15

CYP1A2.15

125C>G; 5347T>C

 

P42R

 

Decr

Soyama et al., 2005
Saito et al., 2005

CYP1A2*16

CYP1A2.16

2473G>A; 5347T>C

 

R377Q

 

Decr

Soyama et al., 2005
Saito et al., 2005

CYP1A2*17

CYP1A2.17

-163C>A; 2159G>A; 3463C>T; 5347T>C

 

T395M

 

 

Browning et al., 2010

CYP1A2*18

CYP1A2.18

3468A>C; 5347T>C

 

N397H

 

 

Browning et al., 2010

CYP1A2*19

CYP1A2.19

5328G>A; 5347T>C

 

R510Q

 

 

Browning et al., 2010

CYP1A2*20

CYP1A2.20

5105G>A; 5347T>C

 

D436N

 

 

Browning et al., 2010

CYP1A2*21

 

-163C>A; 1513C>A; 5284C>A; 5347T>C

 

S298R; Y495X

 

 

Browning et al., 2010

Additional SNPs, where the haplotype has not yet been determined  

 

 

-1051T>C; -733G>C; 1590C>T; 2570G>A; 2646C>T; 2694A>C; 5010C>T; 5521A>G

 

 

 

 

Solus et al., 2004

 

 

53C>G

 

S18C

 

 

Solus et al., 2004

 

 

1559A>G

 

I314V

 

 

Solus et al., 2004

 

 

5253C>G

 

P485R

 

 

Browning et al., 2010

 

 

5094T>C

 

F432S

 

 

Browning et al., 2010

Changes made since the last update (12-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.

GenBank OMIM GeneCards

 

 


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 This page was updated 23-Nov-2010 by Sarah C Sim
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