CYP8A1 allele nomenclature

Allele

Protein__

Nucleotide changes,
cDNA 

Effect

Enzyme activity

References________

In_vivo

In_vitro

CYP8A1*1A

CYP8A1.1

1117C>A
4 repeats: (CCAGCCCCG)4 in the promoter region

 

Normal

Normal

Nakayama et al. 1996
Yokoyama et al. 1996

CYP8A1*1B

CYP8A1.1

None

 

 

 

Chevalier et al. 2001

CYP8A1*1C

CYP8A1.1

768G>A

 

 

 

Chevalier et al. 2001

CYP8A1*1D

CYP8A1.1

5 repeats: (CCAGCCCCG)5 in the promoter region

 

 

Incr. activity after IL-6 exposure

Chevalier et al. 2001

CYP8A1*1E

CYP8A1.1

6 repeats: (CCAGCCCCG)6 in the promoter region

 

 

Incr. activity after IL-6 exposure

Chevalier et al. 2001

CYP8A1*1F

CYP8A1.1

6 repeats with 1 aberrant: CCAGCCCCG TCAGCCCCG (CCAGCCCCG)4 in the promoter region 

 

 

Incr. activity after IL-6 exposure

Chevalier et al. 2001

CYP8A1*1G

CYP8A1.1

7 repeats: (CCAGCCCCG)7 in the promoter region

 

 

 

Chevalier et al. 2002

CYP8A1*1H

CYP8A1.1

7 repeats with 1 aberrant: CCAGCCCCG TCAGCCCCG (CCAGCCCCG)5 in the promoter region

 

 

 

Chevalier et al. 2002

CYP8A1*1J

CYP8A1.1

8 repeats: (CCAGCCCCG)8 in the promoter region

 

 

 

Chevalier et al. 2002

CYP8A1*1K

CYP8A1.1

9 repeats with 1 aberrant: CCAGCCCCG TCAGCCCCG (CCAGCCCCG)7 in the promoter region

 

 

 

Chevalier et al. 2002

CYP8A1*1L

CYP8A1.1

3 repeats: (CCAGCCCCG)3 in the promoter region

 

 

 

Chevalier et al. 2002

CYP8A1*2

CYP8A1.2

113C>T

P38L

 

 

Chevalier et al. 2001

CYP8A1*3

CYP8A1.3

354T>A

S118R

 

 

Chevalier et al. 2001

CYP8A1*4

CYP8A1.4

1135C>A

R379S

 

 

Chevalier et al. 2001

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

 

 


Home Page Inclusion criteria
CYP1A1 CYP1A2 CYP1B1 CYP2A6 CYP2A13 CYP2B6 CYP2C8 CYP2C9 CYP2C19 CYP2D6 CYP2E1 CYP2F1 CYP2J2
CYP2R1 CYP2S1 CYP2W1 CYP3A4 CYP3A5 CYP3A7 CYP3A43 CYP4A11 CYP4A22 CYP4B1 CYP4F2 CYP5A1 CYP8A1 CYP19A1 CYP21A2 CYP26A1 POR

 This page was updated 17-Jan-2011 by Sarah C Sim
Questions and comments are always welcome