CYP5A1 allele nomenclature

Allele

Protein__

Nucleotide changes,
cDNA

Effect

Enzyme activity

References________

In_vivo

In_vitro

CYP5A1*1A

CYP5A1.1

None

 

Normal

Normal

Miyata et al, 1994

CYP5A1*1B

CYP5A1.1

360G>A

 

 

 

Chevalier et al, 2001

CYP5A1*1C

CYP5A1.1

1425C>T

 

 

 

Chevalier et al, 2001

CYP5A1*1D

CYP5A1.1

1727A>G (outside area of reference sequence)

 

 

 

Chevalier et al, 2001

CYP5A1*2

CYP5A1.2

182G>A

R61H

 

 

Chevalier et al, 2001

CYP5A1*3

CYP5A1.3

483C>A

D161E

 

 

Chevalier et al, 2001

CYP5A1*4

CYP5A1.4

737A>G

N246S

 

 

Chevalier et al, 2001

CYP5A1*5

CYP5A1.5

1069C>G

L357V

 

Reduced

Chevalier et al, 2001

CYP5A1*6

CYP5A1.6

1249C>G

Q417E

 

Normal

Chevalier et al, 2001
Chen et al., 2012

CYP5A1*7

CYP5A1.7

1348G>A

E450K

 

Normal

Chevalier et al, 2001
Chen et al., 2012

CYP5A1*8

CYP5A1.8

1352C>A

T451N

 

Reduced

Chevalier et al, 2001
Chen et al., 2012

CYP5A1*9

CYP5A1.9

1397G>A

R466Q

 

 

Chevalier et al, 2001

Additional SNPs, where the haplotype has not yet been determined

 

 

 

K258E

 

Reduced

Chen et al., 2012

Changes made since the last update (02-Feb-2017) 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 website is maintained by Magnus Ingelman-Sundberg
Questions and comments are always welcome