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