CYP2F1 allele nomenclature

Allele

Protein

Nucleotide changes,
Gene

Effect

Enzyme activity

References

In vivo

In vitro

CYP2F1*1

CYP2F1.1

None

 

 

 

Tournel et al., 2007

CYP2F1*2A

CYP2F1.2

-2041G>A; -2033delC; -1675G>A; 14_15insC; 96G>A; 5773G>A; 5921G>C; 6584T>G; 9322C>A

5Frameshift

 

 

Tournel et al., 2007

CYP2F1*2B

CYP2F1.2

-2041G>A; -2033delC; -1675G>A; 14_15insC; 96G>A; 5773G>A; 5921G>C; 6584T>G; 9310C>T; 9322C>A

5Frameshift

 

 

Tournel et al., 2007

CYP2F1*3

CYP2F1.3

-2343A>G; -2244C>T; -1684G>A; 96G>A; 5455G>A; 5457A>G; 5460G>C; 5773G>A; 5921G>C; 9322C>A; 11887C>T

D218N; Q266H; P490L

 

 

Tournel et al., 2007

CYP2F1*4

CYP2F1.4

96G>A; 112T>C; 174G>A; 5773G>A; 6584T>G

S38P; D218N

 

 

Tournel et al., 2007

CYP2F1*5A

CYP2F1.5

9324T>C

L391P

 

 

Tournel et al., 2007

CYP2F1*5B

CYP2F1.5

6593_6595CTC>TCA; 9324T>C

L391P

 

 

Tournel et al., 2007

CYP2F1*6

CYP2F1.6

388G>C

R98P

 

 

Tournel et al., 2007

 

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