CYP1A2 allele nomenclature

Allele	Protein	Nucleotide changes, Gene* *Position 5347 should have a T instead of a C to be considered *1A.	Trivial name	Effect	Enzyme activity		References
					In vivo	In vitro
CYP1A2*1A	CYP1A2.1	None	Wild-type		Normal	Normal	Ikeya et al, 1989 Quattrochi and Tukey, 1989
CYP1A2*1B	CYP1A2.1	5347T>C					Nakajima et al, 1994 Welfare et al, 1999
CYP1A2*1C	CYP1A2.1	-3860G>A			Decreased		Nakajima et al, 1999
CYP1A2*1D	CYP1A2.1	-2467delT					Japanese patent number 05719026 Chida et al, 1999
CYP1A2*1E	CYP1A2.1	-739T>G					Japanese patent number 05719026 Chida et al, 1999
CYP1A2*1F	CYP1A2.1	-163C>A There is confusion about the definition of the CYP1A2*1F allele in the literature. Please observe that according to the Human CYP-allele Nomenclature Committee the CYP1A2*1F allele is defined as having -163A.			Higher inducibility		Japanese patent number 05719026 Sachse et al, 1999 Chida et al, 1999 Han et al., 2002 Sim et al., 2013
CYP1A2*1G	CYP1A2.1	-739T>G; 5347T>C					Chevalier et al, 2001
CYP1A2*1H	CYP1A2.1	2025A>C; 5347T>C					Chevalier et al, 2001
CYP1A2*1J	CYP1A2.1	-739T>G; -163C>A					Aklillu et al, 2003
CYP1A2*1K	CYP1A2.1	-739T>G; -729C>T; -163C>A			Decr		Aklillu et al, 2003
CYP1A2*1L Predicted haplotype	CYP1A2.1	-3860G>A; -2467delT; -163C>A; 5347T>C					Soyama et al., 2005
CYP1A2*1M Predicted haplotype	CYP1A2.1	-163C>A; 2159G>A					Soyama et al., 2005
CYP1A2*1N Predicted haplotype	CYP1A2.1	-3594T>G; -2467delT; -163C>A; 2321G>C; 5521A>G; 5347T>C					Soyama et al., 2005
CYP1A2*1P Predicted haplotype	CYP1A2.1	-3594T>G; -2467delT; -733G>C; -163C>A; 2321G>C; 5521A>G; 5347T>C					Soyama et al., 2005
CYP1A2*1Q Predicted haplotype	CYP1A2.1	-2808A>C; -163C>A; 2159G>A					Soyama et al., 2005
CYP1A2*1R Predicted haplotype	CYP1A2.1	-3594T>G; -2467delT; -367C>T; -163C>A; 2321G>C; 5521A>G; 5347T>C					Soyama et al., 2005
CYP1A2*1S Predicted haplotype	CYP1A2.1	-3053A>G; 5347T>C					Soyama et al., 2005
CYP1A2*1T Predicted haplotype	CYP1A2.1	-2667T>G; 5347T>C					Soyama et al., 2005
CYP1A2*1U Predicted haplotype	CYP1A2.1	678C>T; 5347T>C					Soyama et al., 2005
CYP1A2*1V Predicted haplotype	CYP1A2.1	-2467delT; -163C>A					Ghotbi et al., 2007
CYP1A2*1W Predicted haplotype	CYP1A2.1	-3113A>G; -2467delT; -739T>G; -163C>A					Ghotbi et al., 2007
CYP1A2*2	CYP1A2.2	63C>G		F21L			Huang et al, 1999
CYP1A2*3	CYP1A2.3	2116G>A; 5347T>C		D348N	Decr expr		Chevalier et al, 2001 Zhou et al., 2004
CYP1A2*4	CYP1A2.4	2499A>T		I386F	Decr expr		Chevalier et al, 2001 Zhou et al., 2004
CYP1A2*5	CYP1A2.5	3496G>A		C406Y			Chevalier et al, 2001
CYP1A2*6	CYP1A2.6	5090C>T		R431W	Abolished expr		Chevalier et al, 2001 Zhou et al., 2004
CYP1A2*7		3533G>A		Splicing defect	Decr		Allorge et al, 2003
CYP1A2*8	CYP1A2.8	5166G>A; 5347T>C		R456H		Decr	Soyama et al., 2005 Saito et al., 2005
CYP1A2*9	CYP1A2.9	248C>T		T83M			Murayama et al, 2004
CYP1A2*10	CYP1A2.10	502G>C		E168Q			Murayama et al, 2004
CYP1A2*11	CYP1A2.11	558C>A		F186L		Decr	Murayama et al, 2004
CYP1A2*12	CYP1A2.12	634A>T		S212C			Murayama et al, 2004
CYP1A2*13	CYP1A2.13	1514G>A		G299S			Murayama et al, 2004
CYP1A2*14	CYP1A2.14	5112C>T		T438I			Murayama et al, 2004
CYP1A2*15	CYP1A2.15	125C>G; 5347T>C		P42R		Decr	Soyama et al., 2005 Saito et al., 2005
CYP1A2*16	CYP1A2.16	2473G>A; 5347T>C		R377Q		Decr	Soyama et al., 2005 Saito et al., 2005
CYP1A2*17	CYP1A2.17	-163C>A; 2159G>A; 3463C>T; 5347T>C		T395M			Browning et al., 2010
CYP1A2*18	CYP1A2.18	3468A>C; 5347T>C		N397H			Browning et al., 2010
CYP1A2*19	CYP1A2.19	5328G>A; 5347T>C		R510Q			Browning et al., 2010
CYP1A2*20	CYP1A2.20	5105G>A; 5347T>C		D436N			Browning et al., 2010
CYP1A2*21		-163C>A; 1513C>A; 5284C>A; 5347T>C		S298R; Y495X			Browning et al., 2010
Additional SNPs, where the haplotype has not yet been determined
		-1051T>C; -733G>C; 1590C>T; 2570G>A; 2646C>T; 2694A>C; 5010C>T; 5521A>G					Solus et al., 2004
		53C>G		S18C			Solus et al., 2004
		1559A>G		I314V			Solus et al., 2004
		5253C>G		P485R			Browning et al., 2010
		5094T>C		F432S			Browning et al., 2010

Changes made since the last update (12-Nov-2007) are marked in red.

Allele frequencies: Solus et al., 2004

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.

GenBank OMIM GeneCards

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