CYP2D6 allele nomenclature


 
Allele Protein Nucleotide changes, 
Gene M33388*

*Contains sequencing errors. AY545216 represents CYP2D6*1 without sequencing errors; positions after 600 in M33388 should be numbered with -1 nucleotide (601delC),  positions after 1330 with 0 nucleotides (1330_1331insG), and positions after 1439 with +1 nucleotide (1439_1440insC) as compared with AY545216. CG at position 1289-90 should read GC. All positions in the table are numbered according to M33388.

XbaI haplotype (kb)

 

 

Trivial name Effect
Enzyme activity References
In vivo In vitro
CYP2D6*1A CYP2D6.1 None 29 Wild-type  
Normal Normal Kimura et al., 1989
CYP2D6*1B CYP2D6.1 3828G>A 29  
 
Normal
(d, s)
 
Marez et al., 1997
CYP2D6*1C CYP2D6.1 1978C>T
M4  
Normal (s)  
Marez et al., 1997
CYP2D6*1D CYP2D6.1 2575C>A
M5
 
 
Marez et al., 1997
CYP2D6*1E CYP2D6.1 1869T>C  


 
 
Sachse et al., 1997
CYP2D6*1XN CYP2D6.1  
42  
N active
genes
Incr  
Dahl et al., 1995 
Sachse et al., 1997
CYP2D6*2A CYP2D6.2 -1584C>G; -1235A>G; -740C>T;
-678G>A; CYP2D7 gene conversion in intron 1; 1661G>C; 2850C>T; 4180G>C
29 CYP2D6L R296C; S486T Normal
(dx,d,s)
 
Johansson et al., 1993
Panserat et al., 1994
Raimundo et al., 2000
See also comment below the table.
CYP2D6*2B CYP2D6.2 1039C>T; 1661G>C; 2850C>T; 4180G>C  
 
R296C; S486T  
 
Marez et al., 1997
CYP2D6*2C CYP2D6.2 1661G>C; 2470T>C; 2850C>T; 4180G>C

R296C; S486T
 
Marez et al., 1997
Sachse et al., 1997
CYP2D6*2D CYP2D6.2 2850C>T; 4180G>C  
M10 R296C; S486T  
 
Marez et al., 1997
CYP2D6*2E CYP2D6.2 997C>G; 1661G>C; 2850C>T; 4180G>C  
M12 R296C; S486T
 
Marez et al., 1997
CYP2D6*2F CYP2D6.2 1661G>C; 1724C>T; 2850C>T; 4180G>C  
M14 R296C; S486T  
 
Marez et al., 1997
CYP2D6*2G CYP2D6.2 1661G>C; 2470T>C; 2575C>A; 2850C>T; 4180G>C  
M16 R296C; S486T
 
Marez et al., 1997
CYP2D6*2H CYP2D6.2 1661G>C; 2480C>T; 2850C>T; 4180G>C
M17 R296C; S486T  
 
Marez et al., 1997
CYP2D6*2J CYP2D6.2 1661G>C; 2850C>T; 2939G>A; 4180G>C
M18 R296C; S486T
 
Marez et al., 1997
CYP2D6*2K CYP2D6.2 1661G>C; 2850C>T; 4115C>T; 4180G>C
M21 R296C; S486T
 
Marez et al., 1997
CYP2D6*2L 

(formerly CYP2D6*41B)
CYP2D6.2 -1584C; -1298G>A; -1235A>G;
-740C>T; 310G>T; 746C>G; 843T>G; 1513C>T; 1661G>C; 1757C>T;
2850C>T; 3384A>C; 3584G>A; 3790C>T; 4180G>C
    R296C; S486T     Gaedigk et al., 2005a
CYP2D6*2M CYP2D6.2 -1584C; -1237_-1236insAA;
-1235A>G; -750_-749
delGA;
-740C>T; -678G>A; CYP2D7 gene conversion in intron 1; 310G>T; 746C>G; 843T>G; 1661G>C; 2850C>T; 2988G; 3384A>C; 3584G>A; 3790C>T; 4180G>C; 4481G>A
    R296C; S486T     Gaedigk et al., 2005b
CYP2D6*2XN
(N=2, 3, 4, 5 or 13)
CYP2D6.2 1661G>C; 2850C>T;  4180G>C 42-175  
R296C; S486T;
N active genes
Incr
(d)

Johansson et al., 1993
Dahl et al., 1995 
Aklillu et al., 1996
CYP2D6*3A  
2549delA 29 CYP2D6A Frameshift None
(d, s)
None 
(b)
Kagimoto et al., 1990
CYP2D6*3B  
1749A>G; 2549delA
 
N166D; frameshift     Marez et al., 1997
CYP2D6*4A  
100C>T; 974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A; 4180G>C 44, 29, 16+9 CYP2D6B P34S; L91M; H94R;  Splicing defect; S486T None 
(d, s)
None 
(b)
Kagimoto et al., 1990
Gough et al., 1990
Hanioka et al., 1990
CYP2D6*4B  
100C>T; 974C>A; 984A>G; 997C>G; 1846G>A; 4180G>C 29 CYP2D6B P34S; L91M; H94R; Splicing defect; S486T None 
(d, s)
None 
(b)
Kagimoto et al., 1990
CYP2D6*4C  
100C>T; 1661G>C; 1846G>A; 3887T>C; 4180G>C 44/29 K29-1 P34S; Splicing defect; L421P; S486T None  
Yokota et al., 1993
CYP2D6*4D
100C>T; 1039C>T; 1661G>C; 1846G>A; 4180G>C
 
P34S; Splicing defect; S486T None (dx)  
Marez et al., 1997
CYP2D6*4E  
100C>T; 1661G>C; 1846G>A; 4180G>C
 
P34S; Splicing defect; S486T
 
Marez et al., 1997
CYP2D6*4F  
100C>T; 974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A; 1858C>T;  4180G>C
 
P34S; L91M; H94R; Splicing defect; R173C; S486T  
 
Marez et al., 1997
CYP2D6*4G
100C>T; 974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A; 2938C>T; 4180G>C   
 
P34S; L91M; H94R; Splicing defect;  P325L; S486T  

Marez et al., 1997
CYP2D6*4H  
100C>T; 974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A; 3877G>C; 4180G>C  

P34S; L91M; H94R; Splicing defect; E418Q; S486T

Marez et al., 1997
CYP2D6*4J  
100C>T; 974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A  

P34S; L91M; H94R; Splicing defect  
 
Marez et al., 1997
CYP2D6*4K  
100C>T; 1661G>C; 1846G>A; 2850C>T; 4180G>C  

P34S; Splicing defect; R296C; S486T None  
Sachse et al., 1997
CYP2D6*4L   100C>T; 997C>G; 1661G>C; 1846G>A; 4180G>C     P34S; Splicing defect; S486T     Shimada et al., 2001
CYP2D6*4M   -1235A>G; 746C>G; 843T>G 974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A; 2097A>G; 3384A>C; 3582A>G; 4401C>T     L91M; H94R; Splicing defect     Agundez at el., 1997
Fuselli et al., 2004

Gaedigk et al., 2006
CYP2D6*4N

Found in a gene duplication
  -1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T; 746C>G; 843T>G; 974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A; 2097A>G; 3384A>C; 3582A>G; gene conversion to CYP2D7 in exon 9; 4180G>C; 4401C>T     P34S; L91M; H94R; Splicing defect; P469A; T470A; H478S; G479A; F481V; A482S; S486T       Gaedigk et al., 2006
CYP2D6*4X2  

32+9  

None
L°vlie et al., 1997
Sachse et al., 1998
CYP2D6*5
CYP2D6 deleted 11.5 or 13 CYP2D6D CYP2D6 deleted None 
(d, s)
 
Gaedigk et al., 1991
Steen et al., 1995
CYP2D6*6A
1707delT 29 CYP2D6T Frameshift None 
(d, dx)

Saxena et al., 1994
CYP2D6*6B
1707delT; 1976G>A 29  
Frameshift; G212E None
(s, d)
 
Evert et al., 1994
Daly et al., 1995
CYP2D6*6C
1707delT; 1976G>A; 4180G>C    
Frameshift; G212E; S486T None (s)
Marez et al., 1997
CYP2D6*6D  
1707delT; 3288G>A  

Frameshift; G373S

Marez et al., 1997
CYP2D6*7 CYP2D6.7 2935A>C 29 CYP2D6E H324P None
(s)

Evert et al., 1994
CYP2D6*8  
1661G>C; 1758G>T; 2850C>T; 4180G>C  
CYP2D6G Stop codon; R296C; S486T None 
(d, s)

Broly et al., 1995
CYP2D6*9 CYP2D6.9 2613_2615delAGA 29 CYP2D6C K281del Decr
(b,s,d)
Decr
(b,s,d)
Tyndale et al., 1991
Broly & Meyer, 1993
CYP2D6*10A CYP2D6.10 100C>T; 1661G>C; 4180G>C 44, 29 CYP2D6J P34S; S486T Decr
(s)
  Yokota et al., 1993
CYP2D6*10B CYP2D6.10 -1426C>T; -1237_-1236insAA;
-1235A>G; -1000G>A; 100C>T; 1039C>T; 1661G>C; 4180G>C
44, 29 CYP2D6Ch1 P34S; S486T Decr
(d)
Decr
(b)
Johansson et al., 1994
CYP2D6*10C see CYP2D6*36
CYP2D6*10D CYP2D6.10 100C>T; 1039C>T; 1661G>C; 4180G>C, CYP2D7-like 3'-flanking region 46   P34S; S486T     Ishiguro et al., 2004
CYP2D6*10X2 CYP2D6.10   42     Decr         (dx)   Garcia-Barcelˇ et al., 2000
Ji et al., 2002
             
Mitsunaga et al., 2002
 
Ishiguro et al., 2004
CYP2D6*11  
883G>C; 1661G>C; 2850C>T; 4180G>C 29 CYP2D6F Splicing defect; R296C; S486T None 
(s)

Marez et al., 1995
CYP2D6*12 CYP2D6.12 124G>A; 1661G>C; 2850C>T; 4180G>C 29  
G42R; R296C; S486T None 
(s)

Marez et al., 1996
CYP2D6*13  
CYP2D7P/CYP2D6 hybrid. 
Exon 1 CYP2D7, exons 2-9 CYP2D6 .
29  
Frameshift None 
(dx)
 
Panserat et al., 1995
CYP2D6*14A CYP2D6.14A 100C>T; 1758G>A; 2850C>T; 4180G>C 29   P34S; G169R; R296C; S486T None 
(d)
 
Wang, 1992
Wang et al., 1999
CYP2D6*14B CYP2D6.14B intron 1 conversion with CYP2D7 (214-245); 1661G>C; 1758G>A; 2850C>T; 4180G>C     G169R; R296C; S486T    
 
Ji et al., 2002
CYP2D6*15  
138_139insT 29  
Frameshift None
(d, dx)
 
Sachse et al., 1996
CYP2D6*16   CYP2D7P/CYP2D6 hybrid. Exons 1-7 CYP2D7P-related, exons 8-9 CYP2D6. 11 CYP2D6D2 Frameshift None
(d)
 
Daly et al., 1996
CYP2D6*17 CYP2D6.17 1023C>T; 1661G>C; 2850C>T; 4180G>C 29 CYP2D6Z T107I; R296C; S486T Decr
(d)
Decr
(b)
Masimirembwa et al., 1996
Oscarson et al., 1997
CYP2D6*18 CYP2D6.18 4125_4133dupGTGCCCACT 29 CYP2D6(J9) 468_470dupVPT None (s) Decr (b) Yokoi et al., 1996
CYP2D6*19  
1661G>C; 2539_2542delAACT; 2850C>T; 4180G>C     Frameshift; R296C; S486T None  
Marez et al., 1997
CYP2D6*20   1661G>C; 1973_1974insG; 1978C>T; 1979T>C; 2850C>T; 4180G>C     Frameshift; L213S; R296C; S486T None (m)   Marez-Allorge et al., 1999
CYP2D6*21A
-1584C>G; -1426C>T; -1258_-1257insAAAAA;
-1235A>G; -740C>T; -678G>A; -629A>G; 214G>C; 221C>A; 223C>G; 227T>C; 310G>T; 601delC; 1661G>C; 2573_2574ins
C; 2850C>T; 3584G>A; 4180G>C

   
 
  
Frameshift; R296C; S486T None
Chida et al., 1999
More detailed information submitted 7-May-2002 by
Dr. Jae-Gook Shin.
CYP2D6*21B   -1584C>G; -1235A>G;
-740C>T; -678G>A; intron 1 conversion with CYP2D7 (214-245); 1661G>C; 2573_2574insC; 2850C>T; 4180G>C
    Frameshift; R296C; S486T None    Yamazaki et al., 2003
CYP2D6*22 CYP2D6.22 82C>T  
M2 R28C  

Marez et al., 1997
CYP2D6*23 CYP2D6.23 957C>T  
M3 A85V

Marez et al., 1997
CYP2D6*24 CYP2D6.24 2853A>C  
M6 I297L
 
Marez et al., 1997
CYP2D6*25 CYP2D6.25 3198C>G  
M7 R343G
 
Marez et al., 1997
CYP2D6*26 CYP2D6.26 3277T>C  
M8 I369T

Marez et al., 1997
CYP2D6*27 CYP2D6.27 3853G>A   M9 E410K  
 
 
Marez et al., 1997
CYP2D6*28 CYP2D6.28 19G>A; 1661G>C; 1704C>G; 2850C>T; 4180G>C   M11 V7M; Q151E; R296C; S486T  
  
Marez et al., 1997
CYP2D6*29 CYP2D6.29 1659G>A; 1661G>C; 2850C>T; 3183G>A; 4180G>C  
M13 V136M; R296C; V338M; S486T  
 
Marez et al., 1997
CYP2D6*30 CYP2D6.30 1661G>C; 1863_1864insTTTCGCCCC; 2850C>T; 4180G>C  
M15 174_175insFRP; R296C; S486T  

Marez et al., 1997
CYP2D6*31 CYP2D6.31 1661G>C; 2850C>T; 4042G>A; 4180G>C  
M20 R296C; R440H; S486T
 
Marez et al., 1997
CYP2D6*32 CYP2D6.32 1661G>C; 2850C>T; 3853G>A; 4180G>C  
M19 R296C; E410K; S486T  
 
Marez et al., 1997
CYP2D6*33 CYP2D6.33 2483G>T
CYP2D6*1C A237S Normal (s)  
Marez et al., 1997
CYP2D6*34 CYP2D6.34 2850C>T  
CYP2D6*1D R296C  
 
Marez et al., 1997
CYP2D6*35 CYP2D6.35 -1584C>G; 31G>A; 1661G>C; 2850C>T; 4180G>C
CYP2D6*2B V11M; R296C; S486T Normal (s)   Marez et al., 1997
Gaedigk et al., 2003
CYP2D6*35X2 CYP2D6.35 31G>A; 1661G>C; 2850C>T; 4180G>C  

V11M; R296C; S486T Incr  
Griese et al., 1998
CYP2D6*36

Dupl. or tandem
CYP2D6.36 -1426C>T; -1237_-1236insA;
-1235A>G; -1000G>A; 100C>T; 1039C>T; 1661G>C; gene conversion to CYP2D7 in exon 9; 4180G>C
44, 29 CYP2D6Ch2 P34S; P469A; T470A; H478S; G479A; F481V; A482S; S486T Decr
(d)
Decr
(b)
Wang, 1992
Johansson et al., 1994
Leathart et al., 1998
CYP2D6*36

Single
CYP2D6.36 -1426C>T;  -1235A>G; 
-1000G>A; 100C>T; 310G>T; 843T>G; 1039C>T; 1661G>C; 2097A>G; 3384A>C; 3582A>G; gene conversion to CYP2D7 in exon 9; 4180G>C
    P34S; P469A; T470A; H478S; G479A; F481V; A482S; S486T Decr
(d)
    Gaedigk et al., 2006
CYP2D6*37 CYP2D6.37 100C>T; 1039C>T; 1661G>C; 1943G>A; 4180G>C;  
  
CYP2D6*10D P34S; R201H; S486T  
 
Marez et al., 1997
CYP2D6*38   2587_2590delGACT  
N2 Frameshift None  
Leathart et al., 1998
CYP2D6*39 CYP2D6.39 1661G>C; 4180G>C     S486T     Shimada et al., 2001
CYP2D6*40 CYP2D6.40 1023C>T; 1661G>C; 1863_1864ins(TTT CGC CCC)2; 2850C>T; 4180G>C      T107I; 174_175ins(FRP)2; R296C; S486T None (dx)    Gaedigk et al., 2002a
CYP2D6*41A CYP2D6.2 -1584C; -1235A>G; -740C>T;
-678G>A; CYP2D7 gene conversion in intron 1; 1661G>C; 2850C>T; 2988G>A; 4180G>C
    R296C; S486T Decr (s)   Raimundo et al., 2000 Raimundo et al., 2004
Toscano et al., manuscript in preparation
CYP2D6*41B   See CYP2D6*2L           
CYP2D6*42 CYP2D6.42 -1584C; 1661G>C; 2850C>T; 3259_3260insGT; 4180G>C      R296C; Frameshift; S486T None (dx)    Gaedigk et al., 2002b
CYP2D6*43 CYP2D6.43 77G>A   M1 R26H  
 
  Marez et al, 1997
CYP2D6*44 CYP2D6.44 82C>T; 2950G>C     Splicing defect  None    Yamazaki et al., 2003
CYP2D6*45A CYP2D6.45 -1601_-1600GA>TT; -1584C; -1238_-1237delAA;
-1094_-1093insA;
-1011T>C; 310G>T; 746C>G; 843T>G; 1661G>C; 1716G>A; 2129A>C; 2575C>A; 2661G>A; 2850C>T; 3254T>C; 3384A>C; 3584G>A; 3790C>T; 4180G>C
    E155K; R296C; S486T     Gaedigk et al., 2005a
CYP2D6*45B CYP2D6.45 -1584C; -1543G>A; -1298G>A;
-1235A>G; -1094_-1093insA;
-740C>T; -695_-692delTGTG;
310G>T; 746C>G; 843T>G; 1661G>C; 1716G>A; 2575C>A; 2661G>A; 2850C>T; 3254T>C; 3384A>C; 3584G>A; 3790C>T; 4180G>C
    E155K; R296C; S486T     Gaedigk et al., 2005a
CYP2D6*46 CYP2D6.46 -1584C; -1543G>A; -1298G>A;
-1235A>G; -740C>T; 77G>A; 310G>T; 746C>G; 843T>G; 1661G>C; 1716G>A; 2575C>A; 2661G>A; 2850C>T; 3030G>G/A*; 3254T>C; 3384A>C; 3491G>A; 3584G>A; 3790C>T; 4180G>C

*Both haplotypes have been described (Gaedigk et al. 2005)

    R26H; E155K; R296C; S486T     Gaedigk et al., 2005a
CYP2D6*47 CYP2D6.47 -1426C>T; -1235A>G; -1000G>A; 73C<T; 100C>T; 1039C>T; 1661G>C; 4180G>C     R25W; P34S; S486T     Soyama et al., 2004
CYP2D6*48 CYP2D6.48 972C>T     A90V     Soyama et al., 2004
CYP2D6*49 CYP2D6.49 -1426C>T; -1235A>G; -1000G>A; 100C>T; 1039C>T; 1611T>A; 1661G>C; 4180G>C     P34S; F120I; S486T     Soyama et al., 2004
CYP2D6*50 CYP2D6.50 1720A>C     E156A     Soyama et al., 2004
CYP2D6*51 CYP2D6.51 -1584C>G; -1235A>G;  -740C>T; -678G>A; CYP2D7 gene conversion in intron 1; 1661G>C; 2850C>T; 3172A>C; 4180G>C     R296C; E334A; S486T     Soyama et al., 2004
CYP2D6*52 CYP2D6.52 -1426C>T; -1245_-1244insGA;
-1235A>G; -1028T>C; -1000G>A; -377A>G; 100C>T; 1039C>T; 1661G>C; 3877G>A; 4180G>C; 4388C>T; 4401C>T
    P34S; E418K     Shin et al., manuscript in preparation
CYP2D6*53 CYP2D6.53 1598A>G; 1611T>A; 1617G>T     F120I; A122S     Ebisawa et al., 2005
CYP2D6*54 CYP2D6.54 100C>T; 1039C>T; 1661G>C; 2556C>T; 4180G>C     P34S; T261I; S486T     Ebisawa et al., 2005
CYP2D6*55 CYP2D6.55 1661G>C; 2850C>T; 3790C>T; 3835A>C; 4180G>C     R296C; K404Q; S486T     Ebisawa et al., 2005
CYP2D6*56   -1584C>G; -1235A>G; -740C>T; -678G>A; CYP2D7 gene conversion in intron 1; 1661G>C; 2850C>T; 3201C>T; 3384A>C; 3584G>A; 3790C>T; 4180G>C       R296C; R344Stop; S486T   None Li et al., 2006
CYP2D6*57               To be released
CYP2D6*58 CYP2D6.58 -1426C>T; -1235A>G; -740C>T; CYP2D7 gene conversion in intron 1; 310G>T; 843T>G; 1023C>T; 1661G>T; 1863_1864insTTTCGCCCC; 2850C>T; 3384A>C; 3584G>A; 3790C>T; 4180G>C      T107I; 174_175insFRP; R296C; S486T     Koch et al., manuscript in preparation

Gaedigk and Phillips, unpublished
Additional SNPs, where the haplotype has not yet been determined
    -98C>T; -43insG; 1923C>T; 1998T>C; 2303C>T; 2663G>A; 2760T>A; 2988G>A; 3408T>C; 3435C>A; 4172C>T           Solus et al., 2004
    4155C>T     H478Y     Solus et al., 2004
    1707T>G/C/A     W152G/R/R     NCBI dbSNP
    1847G>A     G169E     NCBI dbSNP
       3265G>A     R365H     NCBI dbSNP

b, bufuralol; d, debrisoquine; dx, dextromethorphan; s, sparteine 

Changes made since the last update (12-Jun-2006) are marked in red.

Allele frequencies: Xie et al., 2001; Bradford, 2002; Mizutani, 2003; 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.

Note: The -1584C>G; -1235A>G;  -740C>T and -678G>A polymorphisms are probably found in most alleles of the CYP2D6*2 series 
(Raimundo et al, 2000). The CYP2D7 gene conversion in intron 1 is probably also found in most alleles of the CYP2D6*2 series 
(Johansson et al, 1993; Raimundo et al, 2000).  

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 21-Jun-2006 by Sarah C Sim
Questions and comments are always welcome