CYP2C9 allele nomenclature

*Allele*	*Protein*	*Nucleotide changes*		*Effect*	*Enzyme activity*		*References*
*Allele*	*Protein*	*cDNA*	Gene	*Effect*	*In_vivo*	*In_vitro*	*References*
CYP2C91A*	CYP2C9.1	None	None		Normal	Normal	Romkes et al., 1991
CYP2C91B Predicted haplotype*	CYP2C9.1		-2665-2664delTG, -1188T>C				King et al., 2004
CYP2C91C Predicted haplotype*	CYP2C9.1		-1188T>C				Shintani et al., 2001 King et al., 2004
CYP2C91D Predicted haplotype*	CYP2C9.1		-2665-2664delTG				King et al., 2004
CYP2C92A 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
CYP2C92B 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
CYP2C92C Predicted haplotype*	CYP2C9.2	430C>T	-1096A>G; -620G>T; -485T>A; -484C>A; 3608C>T	R144C		Decr	King et al., 2004
CYP2C93A 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
CYP2C93B 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
CYP2C94*	CYP2C9.4	1076T>C	42615T>C	I359T			Imai et al., 2000
CYP2C95*	CYP2C9.5	1080C>G	42619C>G	D360E	Decr?	Decr	Dickmann et al., 2001 Allabi et al., 2004
CYP2C96*		818delA	10601delA	Frame shift	None		Kidd et al., 2001
CYP2C97*	CYP2C9.7	55C>A	55C>A	L19I			Blaisdell et al., 2004
CYP2C98*	CYP2C9.8	449G>A	3627G>A	R150H		Incr	Blaisdell et al., 2004
CYP2C99*	CYP2C9.9	752A>G	10535A>G	H251R			Blaisdell et al., 2004
CYP2C910*	CYP2C9.10	815A>G	10598A>G	E272G			Blaisdell et al., 2004
CYP2C911A Predicted haplotype*	CYP2C9.11	1003C>T	42542C>T	R335W		Decr	Higashi et al., 2002 Blaisdell et al., 2004 King et al., 2004
CYP2C911B Predicted haplotype*	CYP2C9.11	1003C>T	-2665-2664delTG, -1188T>C, 42542C>T	R335W		Decr	King et al., 2004
CYP2C912*	CYP2C9.12	1465C>T	50338C>T	P489S		Decr	Blaisdell et al., 2004
CYP2C913*	CYP2C9.13	269T>C	3276T>C	L90P	Decr	Decr	Si et al., 2004 Guo et al., 2005a Guo et al., 2005b
CYP2C914*	CYP2C9.14	374G>A	3552G>A	R125H		Decr	Zhao et al., 2004 Delozier et al., 2005
CYP2C915*	CYP2C9.15	485C>A	9100C>A (linkage with -1188T>C can not be excluded)	S162X		None	Zhao et al., 2004 Delozier et al., 2005
CYP2C916*	CYP2C9.16	895A>G	-1188T>C; 33497A>G	T299A		Decr	Zhao et al., 2004 Delozier et al., 2005
CYP2C917*	CYP2C9.17	1144C>T	42683C>T	P382S			Zhao et al., 2004 Delozier et al., 2005
CYP2C918*	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
CYP2C919*	CYP2C9.19	1362G>C	-1188T>C; 50235G>C	Q454H			Zhao et al., 2004 Delozier et al., 2005
CYP2C920*	CYP2C9.20	208G>C	-1188T>C; 3215G>C	G70R			Zhao et al., 2004
CYP2C921*	CYP2C9.21	89C>T	89C>T	P30L			Veenstra et al., 2005
CYP2C922*	CYP2C9.22	121A>G	121A>G	N41D			Veenstra et al., 2005
CYP2C923*	CYP2C9.23	226G>A	3233G>A	V76M			Veenstra et al., 2005
CYP2C924*	CYP2C9.24	1060G>A Existence of the CYP2C92* polymorphism 430C>T on the same allele can not be excluded	42599G>A	E354K			Herman et al., 2006
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; 33349A>G; 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
			47439T>C	L413P			Solus et al., 2004
			42612A>G	Y358C			NCBI dbSNP

Changes made since the last update (17-May-2006) 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

Inclusion criteria CYP1A1 CYP1A2 CYP1B1 CYP2A6 CYP2A13 CYP2B6 CYP2C8 CYP2C9 CYP2C19 CYP2D6 CYP2E1 CYP2J2 CYP2R1 CYP2S1 CYP3A4 CYP3A5 CYP3A7 CYP3A43 CYP4A11 CYP4A22 CYP4B1 CYP5A1 CYP8A1 CYP19A1 CYP21A2

This page was updated 23-May-2006 by Sarah C Sim
Questions and comments are always welcome