|
|
CYP2C8 allele nomenclature
|
Allele
|
Protein
|
Nucleotide changes, cDNA*
*Position 1497 should read C.
|
Nucleotide changes,
Gene
(Now in the forward direction)
|
Effect
|
Enzyme activity
|
References
|
|
In_vivo
|
In_vitro
|
|
CYP2C8*1A
|
CYP2C8.1
|
None
|
|
|
Normal
|
Normal
|
Klose et al., 1999
|
|
CYP2C8*1B
|
CYP2C8.1
|
|
-271C>A
|
|
|
|
Bahadur et al., 2002
|
|
CYP2C8*1C
|
CYP2C8.1
|
|
-370T>G
|
|
|
|
Bahadur et al., 2002
|
|
CYP2C8*2
|
CYP2C8.2
|
805A>T
|
1675C>T; 2010G>A;
2040_2041insT; 11054A>T; 26562T>A;
32299C>T
|
I269F
|
|
Increased Km for
paclitaxel 6a-OH
|
Dai
et al., 2001
|
|
CYP2C8*3
|
CYP2C8.3
|
416G>A; 1196A>G
|
1675C>T; 2010G>A; 2130G>A;
26562T>A; 30411A>G; 32299C>T
|
R139K;
K399R
|
|
Decreased paclitaxel
turnover.
|
Dai
et al., 2001
|
|
CYP2C8*4
|
CYP2C8.4
|
792C>G
|
11041C>G
|
I264M
|
|
|
Bahadur et al., 2002
|
|
CYP2C8*5
|
|
475delA
|
2189delA
|
159Frameshift
|
None
|
|
Soyama et al., 2002
|
|
CYP2C8*6
|
CYP2C8.6
|
511G>A
|
4472G>A
|
G171S
|
|
|
Hichiya et al., 2005
|
|
CYP2C8*7
|
|
556C>T
|
4517C>T
|
R186X
|
None
|
|
Hichiya et al., 2005
|
|
CYP2C8*8
|
CYP2C8.8
|
556C>G
|
4517C>G
|
R186G
|
Decr
|
|
Hichiya et al., 2005
|
|
CYP2C8*9
|
CYP2C8.9
|
740A>G
|
10989A>G
|
K247R
|
|
|
Hichiya et al., 2005
|
|
CYP2C8*10
|
CYP2C8.10
|
1149G>T
|
26513G>T
|
K383N
|
|
|
Hichiya et al., 2005
|
|
CYP2C8*11
|
|
To be released.
|
|
|
|
|
|
|
CYP2C8*12
|
CYP2C8.12
|
1382_1384delTTG
|
32184_32186delTTG
|
461delV
|
|
|
Saito
et al., 2007
|
|
CYP2C8*13
|
CYP2C8.13
|
669T>G
|
10918T>G
|
I223M
|
|
|
Nakajima
et al., 2006
|
|
CYP2C8*14
|
CYP2C8.14
|
712G>C
|
10961G>C
|
A238P
|
|
|
Nakajima
et al., 2006
|
|
Additional SNPs,
where the haplotype has not yet been determined
|
|
|
|
|
730A>G
|
10979A>G
|
I244V
|
|
|
NCBI dbSNP
|
Changes
made since the last update (2-Oct-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
|