CYP1A2 allele nomenclature
Allele Protein Nucleotide changes, Gene
 Trivial name Effect Enzyme activity References
In vivo In vitro
CYP1A2*1A CYP1A2.1 None Wild-type   Normal Normal Ikeya et al, 1989
Quattrochi and Tukey, 1989 
CYP1A2*1B CYP1A2.1 5347T>C         Nakajima et al, 1994
Welfare et al, 1999
CYP1A2*1C CYP1A2.1 -3860G>A     Decreased   Nakajima et al, 1999
CYP1A2*1D CYP1A2.1 -2467delT         Japanese patent number 05719026
Chida et al, 1999
CYP1A2*1E CYP1A2.1 -739T>G         Japanese patent number 05719026
Chida et al, 1999
CYP1A2*1F CYP1A2.1 -163C>A     Higher inducibility   Japanese patent number 05719026
Sachse et al, 1999
Chida et al, 1999
CYP1A2*1G CYP1A2.1 -739T>G; 5347T>C         Chevalier et al, 2001
CYP1A2*1H CYP1A2.1 2025A>C; 5347T>C         Chevalier et al, 2001
CYP1A2*1J CYP1A2.1 -739T>G ; -163C>A          Aklillu et al, 2003
CYP1A2*1K CYP1A2.1 -739T>G; -729C>T; -163C>A      Decreased   Aklillu et al, 2003
CYP1A2*1L Predicted haplotype CYP1A2.1 -3860G>A; -2467delT; -163C>A         Soyama et al., 2005
CYP1A2*1M Predicted haplotype CYP1A2.1 -163C>A; 2159G>A; 5347C>T         Soyama et al., 2005
CYP1A2*1N Predicted haplotype CYP1A2.1 -3594T>G; -2467delT; -163C>A; 2321G>C; 5521A>G         Soyama et al., 2005
CYP1A2*1P Predicted haplotype CYP1A2.1 -3594T>G; -2467delT; -733G>C; -163C>A; 2321G>C; 5521A>G         Soyama et al., 2005
CYP1A2*1Q Predicted haplotype CYP1A2.1 -2808A>C; -163C>A; 2159G>A; 5347C>T         Soyama et al., 2005
CYP1A2*1R Predicted haplotype CYP1A2.1 -3594T>G; -2467delT; -367C>T; -163C>A; 2321G>C; 5521A>G         Soyama et al., 2005
CYP1A2*1S Predicted haplotype CYP1A2.1 -3053A>G         Soyama et al., 2005
CYP1A2*1T Predicted haplotype CYP1A2.1 -2667T>G         Soyama et al., 2005
CYP1A2*1U Predicted haplotype CYP1A2.1 678C>T         Soyama et al., 2005
CYP1A2*2 CYP1A2.2 63C>G   F21L     Huang et al, 1999
CYP1A2*3 CYP1A2.3 2385G>A; 5347T>C   D348N     Chevalier et al, 2001
CYP1A2*4 CYP1A2.4 2499A>T   I386F     Chevalier et al, 2001
CYP1A2*5 CYP1A2.5 3497G>A   C406Y     Chevalier et al, 2001
CYP1A2*6 CYP1A2.6 5090C>T   R431W     Chevalier et al, 2001
CYP1A2*7   3534G>A   Splicing defect  Decreased   Allorge et al, 2003
CYP1A2*8 CYP1A2.8 5166G>A   R456H     Soyama et al., 2005
CYP1A2*9 CYP1A2.9 248C>T   T83M     Murayama et al, 2004
CYP1A2*10 CYP1A2.10 502G>C   E168Q     Murayama et al, 2004
CYP1A2*11 CYP1A2.11 558C>A   F186L    Decreased Murayama et al, 2004
CYP1A2*12 CYP1A2.12 634A>T   S212C     Murayama et al, 2004
CYP1A2*13 CYP1A2.13 1514G>A   G299S     Murayama et al, 2004
CYP1A2*14 CYP1A2.14 5112C>T   T438I     Murayama et al, 2004
CYP1A2*15 CYP1A2.15 125C>G   P42R     Soyama et al., 2005
CYP1A2*16 CYP1A2.16 2473G>A   R377Q     Soyama et al., 2005
Additional SNPs, where the haplotype has not yet been determined
    -1051T>C; -733G>C; 1590C>T; 2570G>A; 2646C>T; 2694A>C; 5010C>T; 5521A>G         Solus et al., 2004
    53C>G   S18C     Solus et al., 2004
    1513C>A   S298R     Solus et al., 2004
    1559A>G   I314V     Solus et al., 2004

Changes made since the last update (27-Feb-2006) are marked in red.

Allele frequencies: Solus et al., 2004

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.

GenBank OMIM GeneCards
 
Home Page 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 17-May-2006 by Sarah C Sim
Questions and comments are always welcome