|
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
|