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 (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

 


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This page was updated 4-Sep-2012 by Sarah C Sim
Questions and comments are always welcome