Allele Protein Nucleotide _changes XbaI haplo- type (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>C29
 

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*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 . 2549A>del29
 

CYP2D6A Frameshift None
 

(d, s) None
 

(b) Kagimoto et al, 1990
 

CYP2D6*3B . 1749A>G; 2549A>del. . N166D; frameshift . . Marez et al, 1997
 

CYP2D6*4A . 100C>T; 974C>A; 984A>G; _997C>G; 1661G>C; 1846G>A; 4180G>C44, 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>C29
 

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>C44/29 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*4X2 . . 32+9 . . None . Løvlie 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 . 1707T>del29
 

CYP2D6T Frameshift None
 

(d, dx) . Saxena et al, 1994
 

CYP2D6*6B . 1707T>del; 1976G>A29 . Frameshift; G212E None
 

(s, d) . Evert et al, 1994
 

Daly et al, 1995
 

CYP2D6*6C . 1707T>del; 1976G>A; 4180G>C. . Frameshift; G212E; S486T None (s) . Marez et al, 1997
 

CYP2D6*6D . 1707T>del; 3288G>A. . Frameshift; G373S . . Marez et al, 1997
 

CYP2D6*7
 

CYP2D6.7 2935A>C29
 

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 2613-2615delAGA29
 

CYP2D6C K281delDecr
 

(b,s,d) Decr
 

(b,s,d) Tyndale et al, 1991
 

Broly & Meyer, 1993
 

CYP2D6*10A
 

CYP2D6.10 100C>T; 1661G>C; 4180G>C44, 29
 

CYP2D6J P34S; S486T Decr
 

(s) . Yokota et al, 1993
 

CYP2D6*10B
 

CYP2D6.10 100C>T; 1039C>T; 1661G>C; 4180G>C44, 29
 

CYP2D6Ch1 P34S; S486T Decr
 

(d) Decr
 

(b) Johansson et al, 1994
 

CYP2D6*10C see
 

CYP2D6*36
 

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

CYP2D6*15 . 138insT29 . Frameshift None
 

(d, dx) . Sachse et al, 1996
 

CYP2D6*16 .
 

CYP2D7P/
 

CYP2D6 hybrid. Exons1-7
 

CYP2D7P-related, exons 8-9
 

CYP2D6. 11
 

CYP2D6D2 Frameshift None
 

(d) . Daly et al, 1996
 

CYP2D6*17
 

CYP2D6.17 1023C>T; 1638G>C: 2850C>T; 4180G>C 2  9
 

CYP2D6Z T107I; R296C ; S486T Decr
 

(d) Decr
 

(b) Masimirembwa et al, 1996
 

Oscarson et al, 1997
 

CYP2D6*18
 

CYP2D6.18 4125-4133insGTGCCCACT29
 

CYP2D6(J9) 468-470VPT ins 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; 1973insG ;1978C>T; 1979T>C; 2850C>T; 4180G>C. . Frameshift ; L213S; R296C; S486T
 
 
 
 
 

None (m) . Marez-Allorge et al, 1999
 

CYP2D6*21
 

CYP2D6.21 -1584C>G; -1426C>T; -1258insAAAAA; -1235A>G; -740C>T; -678G>A; -629A>G; 214G>C; 221C>A; 223C>G; 227T>C; 310G>T; 601delC; 1661G>C; 2573insC; 2850C>T; 3584G>A; 4180G>C; 4653_4655delACA
 
 
 

Frameshift; R296C; S486T None
 

Chida et al, 1999
 

More detailed information submitted 7-May-2002 by Dr. Jae-Gook Shin.
 
 
 

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 ins 9bp rep; 2850C>T; 4180G>C. M15 172-174FRP rep; 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, in press
 

CYP2D6*35X2
 

CYP2D6.35 31G>A; 1661G>C; 2850C>T; 4180G>C. . V11M; R296C; S486T Incr . Griese et al, 1998
 

CYP2D6*36
 

CYP2D6.36 100C>T; 1039C>T; 1661G>C; 4180G>C;gene conversion to
 

CYP2D7 in exon 9 44, 29
 

CYP2D6Ch2 P34S; S486T Decr
 

(d) Decr
 

(b) Wang, 1992
 

Johansson et al, 1994
 

Leathart et al, 1998
 

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 ins(TTT CGC CCC)2; 2850 C>T; 4180G>C T107I; 172-174(FRP)3; R296C; S486T None (dx) Gaedigk et al, 2002a
 

CYP2D6*41
 

CYP2D6.2 -1584C; -1235A>G; -740C>T; -678G>A;
 

CYP2D7 gene conversion in intron 1; 1661G>C; 2850C>T; 4180G>C R296C; S486T Decr (s) Raimundo et al, 2000
 

This allele is being further characterised.
 

CYP2D6*42
 

-1584C; 1661G>C; 2850C>T; 3259insGT; 4180G>C R296C; Frameshift S486T None (dx) Gaedigk et al, 2002b
 

CYP2D6*43
 

CYP2D6.43 77G>A M1 R26H
 

Marez et al, 1997
 
 

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