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
CYP2C9*6   818delA  10601delA Frame shift  None    Kidd et al., 2001
CYP2C9*7 CYP2C9.7 55C>A 55C>A L19I      Blaisdell et al., 2004
CYP2C9*8 CYP2C9.8 449G>A   3627G>A  R150H   Incr Blaisdell et al., 2004
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 Higashi et al., 2002
Blaisdell et al., 2004
         
King et al., 2004     
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
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