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CYP19A1 allele nomenclature
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Allele
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Protein
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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
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Effect
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Enzyme activity
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References
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In_vivo
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In_vitro
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CYP19A1*1
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CYP19A1.1
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None
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Normal
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Normal
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Ma
et al., 2005
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CYP19A1*2
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CYP19A1.2
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-45965C>G; 115T>C; 15161_15163delTCT;
32266G>T
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W39R
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Decr?
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Miyoshi et al., 2000
Ma et al., 2005
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CYP19A1*3A
Predicted haplotype
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CYP19A1.3
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-80924C>A; 5845A>G; 5944A>G; 20538C>T; 24242T>G;
24408T>A; 26990T>G; 27602A>G; 32124C>T
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T201M
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Ma
et al., 2005
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CYP19A1*3B Predicted haplotype
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CYP19A1.3
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-96170G>A; -95726C>T; -45965C>G; 5845A>G; 5944A>G; 20538C>T; 24242T>G;
24408T>A; 26990T>G; 27602A>G; 32124C>T
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T201M
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Ma
et al., 2005
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CYP19A1*4A Predicted haplotype
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CYP19A1.4
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-96170G>A;
-81028C>G; -45965C>G; 27142C>T
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R264C
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Decr
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Watanabe et al., 1997
Ma et al., 2005
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CYP19A1*4B
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CYP19A1.4
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-81371C>T; 27142C>T
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R264C
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Ma
et al., 2005
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CYP19A1*4C
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CYP19A1.4
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27142C>T
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R264C
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Ma
et al., 2005
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CYP19A1*4D Predicted haplotype
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CYP19A1.4
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-96170G>A; -95726C>T; 27142C>T
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R264C
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Ma
et al., 2005
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CYP19A1*4F Predicted haplotype
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CYP19A1.4
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27142C>T;
32124C>T
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R264C
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Ma
et al., 2005
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CYP19A1*5 Predicted haplotype
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CYP19A1.5
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-95860C>T; -45965C>G;
-484_-483delGT; 15161_15163delTCT; 32124C>T; 32266G>T
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M364T
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Decr
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Ma
et al., 2005
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Additional SNPs, where the haplotype has not
yet been determined
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27142C>T/G/A
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R264C/G/S
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NCBI dbSNP
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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
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