|
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
|