CYP4A11 allele nomenclature

Allele

Protein

Nucleotide changes, 
Gene

Effect

Enzyme_activity

References

In_vivo

In vitro

CYP4A11*1

CYP4A11.1

None

None

 

 

 

Additional SNPs, where the haplotype has not yet been determined

 

 

4126T>C

W126R

 

 

NCBI dbSNP

 

 

4648G>A

G130S

 

 

NCBI dbSNP

 

 

4714T>A

Y152N

 

 

NCBI dbSNP

 

 

5829G>T

V185F

 

 

NCBI dbSNP

 

 

6911A>C

K276T

 

 

NCBI dbSNP

 

 

7227A>G

S353G

 

 

Cho et al., 2005

 

 

8447C>T

P428L

 

 

NCBI dbSNP

 

 

8610T>C

F434S

Incr. risk for hypertension

Decr.

Gainer et al., 2005
Mayer et al., 2005

  

  

11284C>T

L509F

 

 

NCBI dbSNP

Changes made since the last update (27-Mar-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