CYP19A1 allele nomenclature

Allele

Protein

Nucleotide changes, 
Gene*

*Positions to be altered to represent the CYP19A1*1A allele: -45965G>C; -45671T>C;
-39196G>C; -35744C>T; -13201T>C and 32266T>G

Effect

Enzyme activity

References

In_vivo

In_vitro

CYP19A1*1

CYP19A1.1

None

 

Normal

Normal

Ma et al., 2005   

CYP19A1*2

CYP19A1.2

115T>C

W39R

 

Decr?

Miyoshi et al., 2000
Ma et al., 2005

CYP19A1*3

CYP19A1.3

20538C>T

T201M

 

 

Ma et al., 2005

CYP19A1*4

CYP19A1.4

27142C>T

R264C

 

Decr

Watanabe et al., 1997
Ma et al., 2005

CYP19A1*5

CYP19A1.5

30421T>C

M364T

 

Decr

Ma et al., 2005

Changes made since the last update (27-Mar-2007) are marked in red.

Allele frequencies: Ma et al., 2005

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 page was updated 13-Nov-2007 by Sarah C Sim
Questions and comments are always welcome