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/Decr

Blaisdell et al., 2004
Allabi et al., 2005
Liu et al., 2012

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

485C>A 

9100C>A (linkage with
-1188T>C cannot 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

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

CYP2C9*35

CYP2C9.35

374G>T; 430C>T

3552G>T; 3608C>T

R125L; R144C

 

None

Ciccacci et al., 2011
Lee et al., 2013

 

CYP2C9*36

CYP2C9.36

1A>G

1A>G

START1V

 

 

Dai et al., 2013

CYP2C9*37

CYP2C9.37

146A>G

146A>G

D49G

 

 

Dai et al., 2013

CYP2C9*38

CYP2C9.38

287G>C

3294G>C

G96A

 

 

Dai et al., 2013

CYP2C9*39

CYP2C9.39

293G>T

3300G>T

G98V

 

 

Dai et al., 2013

CYP2C9*40

CYP2C9.40

329T>C

3336T>C

F110S

 

 

Dai et al., 2013

CYP2C9*41

CYP2C9.41

356A>G

3534A>G

K119R

 

 

Dai et al., 2013

CYP2C9*42

CYP2C9.42

371G>A

3549G>A

R124Q

 

 

Dai et al., 2013

CYP2C9*43

CYP2C9.43

370C>T

3548C>T

R124W

 

 

Dai et al., 2013

CYP2C9*44

CYP2C9.44

389C>T

3567C>T

T130M

 

 

Dai et al., 2013

CYP2C9*45

CYP2C9.45

394C>T

3572C>T

 R132W

 

 

Dai et al., 2013

CYP2C9*46

CYP2C9.46

445G>A

3623G>A

A149T

 

 

Dai et al., 2013

CYP2C9*47

CYP2C9.47

488C>T

9103C>T

P163L

 

 

Dai et al., 2013

CYP2C9*48

CYP2C9.48

620T>C

9235T>C

I207T

 

 

Dai et al., 2013

CYP2C9*49

CYP2C9.49

664A>G

10447A>G

I222V

 

 

Dai et al., 2013

CYP2C9*50

CYP2C9.50

679C>T

10462C>T

P227S

 

 

Dai et al., 2013

CYP2C9*51

CYP2C9.51

850A>G

33452A>G

I284V

 

 

Dai et al., 2013

CYP2C9*52

CYP2C9.52

896C>G

33498C>G

T299R

 

 

Dai et al., 2013

CYP2C9*53

CYP2C9.53

949C>T

33551C>T

P317S

 

 

Dai et al., 2013

CYP2C9*54

CYP2C9.54

1029C>A

42568C>A

S343R

 

 

Dai et al., 2013

CYP2C9*55

CYP2C9.55

1081C>A

42620C>A

L361I

 

 

Dai et al., 2013

CYP2C9*56

CYP2C9.56

1159A>G

47360A>G

I387V

 

 

Dai et al., 2013

CYP2C9*57

CYP2C9.57

610A>C

9225A>C

N204H

 

 

Nahar et al., 2013

CYP2C9*58

CYP2C9.58

1009C>A

42548C>A

P337T

 

 

Luo et al., submitted

 

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

Changes made since the last update (13-Nov-2013) 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
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This page was updated 17-Dec-2013 by Sarah C Sim
Questions and comments are always welcome