CYP2C9 等位基因查詢表

*等位基因*	*蛋白質(zhì)*	*核苷酸變化*		影響	*酶活性變化*		*參考文獻(xiàn)*
*等位基因*	*蛋白質(zhì)*	*cDNA*	*Gene*	影響	*體內(nèi)*	體外	*參考文獻(xiàn)*
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 Allabi et al., 2005
CYP2C96*		818delA	10601delA	273Frame shift	None		Kidd et al., 2001 Allabi et al., 2005
CYP2C97*	CYP2C9.7	55C>A	55C>A	L19I			Blaisdell et al., 2004
CYP2C98*	CYP2C9.8	449G>A	3627G>A	R150H	Decr	Incr/Decr	Blaisdell et al., 2004 Allabi et al., 2005 Liu et al., 2012
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	Decr	Higashi et al., 2002 Blaisdell et al., 2004 King et al., 2004 Allabi et al., 2005
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*		485C>A	9100C>A (linkage with -1188T>C cannot 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 cannot be excluded	42599G>A	E354K			Herman et al., 2006
CYP2C925*		353_362delAGAAATGGAA	3531_3540delAGAAATGGAA	118Frameshift		None	Maekawa et al., 2006
CYP2C926* 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
CYP2C927* 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
CYP2C928*	CYP2C9.28	641A>T	9256A>T	Q214L		Decr	Maekawa et al., 2006
CYP2C929* Predicted haplotype	CYP2C9.29	835C>A	251T>C; 3411T>C; 33437C>A; 33658A>G; 50056A>T	P279T			Maekawa et al., 2006
CYP2C930*	CYP2C9.30	1429G>A	50302G>A	A477T		Decr	Maekawa et al., 2006
CYP2C931*	CYP2C9.31	980T>C	42519T>C	I327T			Matimba et al., 2009
CYP2C932*	CYP2C9.32	1468G>T	50341G>T	V490F			Matimba et al., 2009
CYP2C933*	CYP2C9.33	395G>A	3573G>A	R132Q		Decr	Yin et al., 2008
CYP2C934*	CYP2C9.34	1004G>A	42543G>A	R335Q			Yin et al., 2008
CYP2C935*	CYP2C9.35	374G>T; 430C>T	3552G>T; 3608C>T	R125L; R144C		None	Ciccacci et al., 2011 Lee et al., 2013

CYP2C936*	CYP2C9.36	1A>G	1A>G	START1V			Dai et al., 2013
CYP2C937*	CYP2C9.37	146A>G	146A>G	D49G			Dai et al., 2013
CYP2C938*	CYP2C9.38	287G>C	3294G>C	G96A			Dai et al., 2013
CYP2C939*	CYP2C9.39	293G>T	3300G>T	G98V			Dai et al., 2013
CYP2C940*	CYP2C9.40	329T>C	3336T>C	F110S			Dai et al., 2013
CYP2C941*	CYP2C9.41	356A>G	3534A>G	K119R			Dai et al., 2013
CYP2C942*	CYP2C9.42	371G>A	3549G>A	R124Q			Dai et al., 2013
CYP2C943*	CYP2C9.43	370C>T	3548C>T	R124W			Dai et al., 2013
CYP2C944*	CYP2C9.44	389C>T	3567C>T	T130M			Dai et al., 2013
CYP2C945*	CYP2C9.45	394C>T	3572C>T	R132W			Dai et al., 2013
CYP2C946*	CYP2C9.46	445G>A	3623G>A	A149T			Dai et al., 2013
CYP2C947*	CYP2C9.47	488C>T	9103C>T	P163L			Dai et al., 2013
CYP2C948*	CYP2C9.48	620T>C	9235T>C	I207T			Dai et al., 2013
CYP2C949*	CYP2C9.49	664A>G	10447A>G	I222V			Dai et al., 2013
CYP2C950*	CYP2C9.50	679C>T	10462C>T	P227S			Dai et al., 2013
CYP2C951*	CYP2C9.51	850A>G	33452A>G	I284V			Dai et al., 2013
CYP2C952*	CYP2C9.52	896C>G	33498C>G	T299R			Dai et al., 2013
CYP2C953*	CYP2C9.53	949C>T	33551C>T	P317S			Dai et al., 2013
CYP2C954*	CYP2C9.54	1029C>A	42568C>A	S343R			Dai et al., 2013
CYP2C955*	CYP2C9.55	1081C>A	42620C>A	L361I			Dai et al., 2013
CYP2C956*	CYP2C9.56	1159A>G	47360A>G	I387V			Dai et al., 2013
CYP2C957*	CYP2C9.57	610A>C	9225A>C	N204H			Nahar et al., 2013
CYP2C958*	CYP2C9.58	1009C>A	42548C>A	P337T			Luo et al., 2014
CYP2C959*	CYP2C9.59	1300A>T	50173A>T	I434F	Decr	Found in an outlier	Dai et al., 2015a
CYP2C960*	CYP2C9.60	1400T>C	50273T>C	L467P	Decr	Found in an outlier	Dai et al., 2015b

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
		-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
	1253A>C		N418T	Dai et al., 2013