CYP2A13 allele nomenclature

Allele

Protein

Nucleotide changes,
Gene

Effect

Enzyme activity

References

In vivo

In vitro

CYP2A13*1A

CYP2A13.1

None

 

Normal

Normal

Fernandez-Salguero et al., 1995
Su et al., 2000

CYP2A13*1B

CYP2A13.1

-12C>A

 

 

 

Fujieda et al., 2003

CYP2A13*1C

CYP2A13.1

187T>C

 

 

 

Fujieda et al., 2003

CYP2A13*1D

CYP2A13.1

1757A>G

 

 

 

Fujieda et al., 2003

CYP2A13*1E

CYP2A13.1

1894G>T

 

 

 

Fujieda et al., 2003

CYP2A13*1F

CYP2A13.1

6461T>A

 

 

 

Fujieda et al., 2003

CYP2A13*1G

CYP2A13.1

7571G>C

 

 

 

Fujieda et al., 2003

CYP2A13*1H

CYP2A13.1

-1479T>C; -1240A>G; -411G>A; 1757A>G; 2366C>T; 6424C>T; 6432C>T; 7233T>G; 7520C>G

 

 

 

Fujieda et al., 2003

CYP2A13*1J

CYP2A13.1

523C>T

 

 

 

Cauffiez et al., 2004

CYP2A13*1K

CYP2A13.1

1991C>A

 

 

 

Cauffiez et al., 2004

CYP2A13*1L

CYP2A13.1

7365T>C

 

 

 

Cauffiez et al.., 2004

CYP2A13*2A

CYP2A13.2

-1479T>C; -1429A>G; -1240A>G; -411G>A; 74G>A; 1757A>G; 2211T>C; 3375C>T

R25Q; R257C

 

 

Fujieda et al., 2003

CYP2A13*2B

CYP2A13.2

-1479T>C; -1429A>G; -1240A>G; -411G>A; 74G>A; 1757A>G; 2211T>C; 3375C>T; 6424C>T; 6432C>T; 7233T>G; 7571G>C

R25Q; R257C

 

 

Fujieda et al., 2003

CYP2A13*3

CYP2A13.3

-1479T>C; -729C>T; -411G>A; 1634_1635insACC; 1706C>G; 1757A>G; 1801G>C; 1970A>C; 2211T>C; 5530T>C; 5578A>C; 6424C>T; 7233T>G; 7520C>G

133_134insT; D158E

 

 

Fujieda et al., 2003

CYP2A13*4

CYP2A13.4

579G>A

R101Q

 

 

Fujieda et al., 2003

CYP2A13*5

CYP2A13.5

7343T>A

F453Y

 

 

Fujieda et al., 2003

CYP2A13*6

CYP2A13.6

7465C>T

R494C

 

 

Fujieda et al., 2003

CYP2A13*7

CYP2A13.7

578C>T

R101X

 

 

Cauffiez et al., 2004
Zhang et al., 2003

CYP2A13*8

CYP2A13.8

1706C>G

D158E

 

 

Cauffiez et al., 2004

CYP2A13*9

CYP2A13.9

5294G>T

V323L

 

 

Cauffiez et al., 2004

CYP2A13*10

CYP2A13.10

74G>A; 3375C>T; 5792T>C

R25Q; R257C; I331T

 

 

Tamaki et al., 2011

Changes made since the last update (13-Nov-2007) are marked in red.

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

 


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 This page was updated 22-Nov-2011 by Sarah C Sim
Questions and comments are always welcome