CYP2C9 allele nomenclature

Allele	Protein	Nucleotide changes		Effect	Enzyme activity		References
		cDNA	Gene		In_vivo	In_vitro
CYP2C9*1A	CYP2C9.1	None	None		Normal	Normal	Romkes et al., 1991
CYP2C9*1B Predicted haplotype	CYP2C9.1		-2665_-2664delTG, -1188T>C				King et al., 2004
CYP2C9*1C Predicted haplotype	CYP2C9.1		-1188T>C				Shintani et al., 2001 King et al., 2004
CYP2C9*1D Predicted haplotype	CYP2C9.1		-2665_-2664delTG				King et al., 2004
CYP2C9*2A Predicted haplotype	CYP2C9.2	430C>T	-1188T>C, -1096A>G; -620G>T; -485T>A; -484C>A; 3608C>T	R144C		Decr	Rettie et al., 1994 Crespi et al., 1997 Takahashi et al., 2004 Sandberg et al., 2004 King et al., 2004
CYP2C9*2B Predicted haplotype	CYP2C9.2	430C>T	-2665_-2664delTG, -1188T>C; -1096A>G; -620G>T; -485T>A; -484C>A; 3608C>T	R144C		Decr	King et al., 2004
CYP2C9*2C Predicted haplotype	CYP2C9.2	430C>T	-1096A>G; -620G>T; -485T>A; -484C>A; 3608C>T	R144C		Decr	King et al., 2004
CYP2C9*3A Predicted haplotype	CYP2C9.3	1075A>C	-1911T>C; -1885C>G; -1537G>A; -981G>A; 42614A>C	I359L	Decr	Decr	Sullivan-Klose et al., 1996 Haining et al., 1996 Aithal et al., 1999 Kidd et al., 1999 Takanashi et al., 2000 Shintani et al., 2001 King et al., 2004
CYP2C9*3B Predicted haplotype	CYP2C9.3	1075A>C	-1911T>C; -1885C>G; -1537G>A; -1188T>C; -981G>A; 42614A>C	I359L	Decr	Decr	Shintani et al., 2001 King et al., 2004
CYP2C9*4	CYP2C9.4	1076T>C	42615T>C	I359T			Imai et al., 2000
CYP2C9*5	CYP2C9.5	1080C>G	42619C>G	D360E	Decr?	Decr	Dickmann et al., 2001 Allabi et al., 2004 Allabi et al., 2005
CYP2C9*6		818delA	10601delA	273Frame shift	None		Kidd et al., 2001 Allabi et al., 2005
CYP2C9*7	CYP2C9.7	55C>A	55C>A	L19I			Blaisdell et al., 2004
CYP2C9*8	CYP2C9.8	449G>A	3627G>A	R150H	Decr	Incr	Blaisdell et al., 2004 Allabi et al., 2005
CYP2C9*9	CYP2C9.9	752A>G	10535A>G	H251R			Blaisdell et al., 2004
CYP2C9*10	CYP2C9.10	815A>G	10598A>G	E272G			Blaisdell et al., 2004
CYP2C9*11A  Predicted haplotype	CYP2C9.11	1003C>T	42542C>T	R335W	Decr	Decr	Higashi et al., 2002 Blaisdell et al., 2004 King et al., 2004 Allabi et al., 2005
CYP2C9*11B Predicted haplotype	CYP2C9.11	1003C>T	-2665_-2664delTG; -1188T>C; 42542C>T	R335W		Decr	King et al., 2004
CYP2C9*12	CYP2C9.12	1465C>T	50338C>T	P489S		Decr	Blaisdell et al., 2004
CYP2C9*13	CYP2C9.13	269T>C	3276T>C	L90P	Decr	Decr	Si et al., 2004 Guo et al., 2005a Guo et al., 2005b
CYP2C9*14	CYP2C9.14	374G>A	3552G>A	R125H		Decr	Zhao et al., 2004 Delozier et al., 2005
CYP2C9*15	CYP2C9.15	485C>A	9100C>A (linkage with -1188T>C can not be excluded)	S162X		None	Zhao et al., 2004 Delozier et al., 2005
CYP2C9*16	CYP2C9.16	895A>G	-1188T>C; 33497A>G	T299A		Decr	Zhao et al., 2004 Delozier et al., 2005
CYP2C9*17	CYP2C9.17	1144C>T	42683C>T	P382S			Zhao et al., 2004 Delozier et al., 2005
CYP2C9*18	CYP2C9.18	1075A>C; 1190A>C;  1425A>T	-1911T>C; -1885C>G; -1537G>A; -1188T>C; -981G>A; 42614A>C; 47391A>C; 50298A>T	I359L; D397A		Decr	Zhao et al., 2004 Delozier et al., 2005
CYP2C9*19	CYP2C9.19	1362G>C	-1188T>C; 50235G>C	Q454H			Zhao et al., 2004 Delozier et al., 2005
CYP2C9*20	CYP2C9.20	208G>C	-1188T>C; 3215G>C	G70R			Zhao et al., 2004
CYP2C9*21	CYP2C9.21	89C>T	89C>T	P30L			Veenstra et al., 2005
CYP2C9*22	CYP2C9.22	121A>G	121A>G	N41D			Veenstra et al., 2005
CYP2C9*23	CYP2C9.23	226G>A	3233G>A	V76M			Veenstra et al., 2005
CYP2C9*24	CYP2C9.24	1060G>A  Existence of the CYP2C9*2 polymorphism 430C>T on the same allele can not be excluded	42599G>A	E354K			Herman et al., 2006
CYP2C9*25	CYP2C9.25	353_362delAGAAATGGAA	3531_3540delAGAAATGGAA	118Frameshift		None	Maekawa et al., 2006
CYP2C9*26 Predicted haplotype	CYP2C9.26	389C>G	1565C>T; -1188T>C; 3567C>G; 3856G>A; 8763C>T; 9032G>C; 10311A>G; 33349A>G; 50056A>T	T130R		Decr	Maekawa et al., 2006
CYP2C9*27 Predicted haplotype	CYP2C9.27	449G>T	-3089G>A; -2665_-2664delTG; -1188T>C; 3627G>T; 3898C>T; 47639C>T; 50056A>T	R150L			Maekawa et al., 2006
CYP2C9*28	CYP2C9.28	641A>T	9256A>T	Q214L		Decr	Maekawa et al., 2006
CYP2C9*29 Predicted haplotype	CYP2C9.29	835C>A	251T>C; 3411T>C; 33437C>A; 33658A>G; 50056A>T	P279T			Maekawa et al., 2006
CYP2C9*30	CYP2C9.30	1429G>A	50302G>A	A477T		Decr	Maekawa et al., 2006
CYP2C9*31	CYP2C9.31	980T>C	42519T>C	I327T			Matimba et al., 2009
CYP2C9*32	CYP2C9.32	1468G>T	50341G>T	V490F			Matimba et al., 2009
CYP2C9*33	CYP2C9.33	395G>A	3573G>A	R132Q		Decr	Yin et al., 2008
CYP2C9*34	CYP2C9.34	1004G>A	42543G>A	R335Q			Yin et al., 2008
Additional SNPs, where the haplotype has not yet been determined
			96C>G; 251T>C; 2191T>A; 2340G>A; 2638G>T; 2737T>C; 3162G>C; 3235G>A; 3898C>T; 3924T>C; 4033A>G; 4157C>T; 4309A>G; 4628T>A; 4670G>T; 9032G>C; 9069G>A; 10682T>C; 10787G>A; 10814G>T; 33658A>G; 42469T>C; 42726C>T; 47545A>T; 47593T>C; 50053G>A; 50066G>A; 50081G>C; 50434C>T; 50454C>G; 50566A>G; 50658A>G; 50742T>A; 52104C>A; 52175T>C; 52236C>T; 52319G>C; 53194insTGACAT; 53403C>T; 53498delT; 53538G>C; 53557T>C				Solus et al., 2004
			49C>A	L17I			Maekawa et al., 2006
			47439T>C	L413P			Solus et al., 2004
			42612A>G	Y358C			NCBI dbSNP
			-8897C>A; -8553C>A; -8422A>G; -8416T>G; -7419A>G; -7336G>A; -5813A>G; -5661C>A; -5146G>C; -5143A>C; -5140A>T; -4877G>A; -4302C>T; -3597A>G; -3579G>A; -3360T>C				Kramer et al., 2008
			50294A>G	N474S			Matimba et al., 2009
		8C>A		S3Y			Goldstein et al., 2009
		1078G>A		D360N			Goldstein et al., 2009

Changes made since the last update (1-Jan-2009) are marked in red.

Allele frequencies: Xie et al., 2001; Mizutani, 2003; Solus et al., 2004; Suarez-Kurtz, 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 22-Jun-2009 by Sarah C Sim
Questions and comments are always welcome