CYP2C8 allele nomenclature

Allele

Protein

Nucleotide changes, cDNA* 

*Position 1497 should read C

Nucleotide changes,
Gene


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

 

Decreased

Dai et al., 2001
Gao et al., 2010

CYP2C8*3

CYP2C8.3

416G>A; 1196A>G

1675C>T; 2010G>A; 2130G>A;  26562T>A; 30411A>G; 32299C>T

R139K; K399R

 

Decreased

Dai et al., 2001
Gao et al., 2010

CYP2C8*4

CYP2C8.4

792C>G

11041C>G

I264M

 

Decreased

Bahadur et al., 2002
Gao et al., 2010
Jian et al., 2011

CYP2C8*5

 

475delA

2189delA

159Frameshift

None

 

Soyama et al., 2002

CYP2C8*6

CYP2C8.6

511G>A

4472G>A

G171S

 

Unchanged

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

Decreased

Hichiya et al., 2005

CYP2C8*9

CYP2C8.9

740A>G

10989A>G

K247R

 

Unchanged

Hichiya et al., 2005

CYP2C8*10

CYP2C8.10

1149G>T

26513G>T

K383N

 

Unchanged

Hichiya et al., 2005

CYP2C8*11

 

820G>T

23452G>T

E274X

 

None

Yeo et al., 2011

CYP2C8*12

CYP2C8.12

1382_1384delTTG

32184_32186delTTG

461delV

 

 

Saito et al., 2007

CYP2C8*13

CYP2C8.13

669T>G

10918T>G

I223M

 

Unchanged

Nakajima et al., 2006
Hanioka et al., 2010

CYP2C8*14

CYP2C8.14

712G>C

10961G>C

A238P

 

Decreased

Nakajima et al., 2006
Hanioka et al., 2010

Changes made since the last update (30-Nov-2011) 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

 

 


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 This page was updated 26-Jan-2012 by Sarah C Sim
Questions and comments are always welcome