|
|
|
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)
|
Normal (b, dx)
|
Johansson
et al., 1993
Panserat et al., 1994
Raimundo et al., 2000
Sakuyama et al., 2008
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
|
|
See CYP2D6*59
|
|
|
|
|
|
|
|
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_-749delGA;
-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
|
259Frameshift
|
None
(d, s)
|
None
(b)
|
Kagimoto et al., 1990
|
|
CYP2D6*3B
|
|
1749A>G;
2549delA
|
|
|
N166D;
259Frameshift
|
|
|
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
|
|
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
|
|
1707delT
|
29
|
CYP2D6T
|
118Frameshift
|
None
(d, dx)
|
|
Saxena et al., 1994
|
|
CYP2D6*6B
|
|
1707delT; 1976G>A
|
29
|
|
118Frameshift
|
None
(s, d)
|
|
Evert et al., 1994
Daly et al., 1995
|
|
CYP2D6*6C
|
|
1707delT; 1976G>A; 4180G>C
|
|
|
118Frameshift
|
None (s)
|
|
Marez et al., 1997
|
|
CYP2D6*6D
|
|
1707delT; 3288G>A
|
|
|
118Frameshift
|
|
|
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
|
G169X
|
None
(d, s)
|
|
Broly et al., 1995
|
|
CYP2D6*9
|
CYP2D6.9
|
2615_2617delAAG
|
29
|
CYP2D6C
|
K281del
|
Decr
(b,s,d)
|
Decr
(b,s,d)
|
Tyndale
et al., 1991
Broly & Meyer, 1993
|
|
CYP2D6*9x2
|
CYP2D6.9
|
2615_2617delAAG
|
|
|
K281del
|
|
|
Gaedigk
et al., 2011b
|
|
CYP2D6*10A
|
CYP2D6.10
|
100C>T; 1661G>C; 4180G>C
|
44, 29
|
CYP2D6J
|
P34S; S486T
|
Decr
(s)
|
Decr (b, dx)
|
Yokota et al., 1993
Sakuyama et al., 2008
|
|
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-Barceló 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*13A1
Originally called
CYP2D6*13
|
|
CYP2D7/2D6 hybrid gene with switch
region in intron 1
Can occur single as well as in tandem with CYP2D6*1 and CYP2D6*1xN
|
29
|
|
Frameshift
|
None
(dx)
|
|
Panserat et al., 1995
Black et al.,
2012
|
|
CYP2D6*13A2
Originally called
CYP2D6*77
|
|
CYP2D7/2D6 hybrid gene with switch
region in intron 1
Switch region further
downstream compared to CYP2D6*13A1
In
tandem with CYP2D6*2
|
|
|
Frameshift
|
|
|
Gaedigk
et al., 2010a
|
|
CYP2D6*13B
Originally called
CYP2D6*79
|
|
CYP2D7/2D6 hybrid gene with switch
region in exon 2
|
|
|
Frameshift
|
|
|
Gaedigk
et al., 2010b
|
|
CYP2D6*13C
Originally called
CYP2D6*80
|
|
CYP2D7/2D6 hybrid gene with switch
region in exon 3
|
|
|
Frameshift
|
|
|
Gaedigk
et al., 2010b
|
|
CYP2D6*13D
Originally called
CYP2D6*78
|
|
CYP2D7/2D6 hybrid gene with switch
region in intron 4
In tandem with CYP2D6*2
|
|
|
Frameshift
|
|
|
Gaedigk
et al., 2010a
|
|
CYP2D6*13E
Originally called
CYP2D6*67
|
|
CYP2D7/2D6 hybrid gene with switch
region in exon 5
|
|
|
Frameshift
|
|
|
Gaedigk
et al., 2010b
|
|
CYP2D6*13F
Originally called
CYP2D6*16 and CYP2D6*66
|
|
CYP2D7/2D6 hybrid gene with switch
region in intron 7 - intron 8
Due to homologies with
multiple CYP2D7 sequences, the exact crossover point is imprecise, but
identical, for CYP2D6*16 and CYP2D6*66
|
11
|
CYP2D6D2
|
Frameshift
|
None
(d)
|
|
Daly
et al., 1996
Gaedigk
et al., 2008a
|
|
CYP2D6*13G1
|
|
CYP2D7/2D6 hybrid gene with switch
region in intron 7
Contains a 9-bp insertion
identical to CYP2D6 in intron 4
|
|
|
Frameshift
|
|
|
Black
et al. 2011
|
|
CYP2D6*13G2
|
|
CYP2D7/2D6 hybrid gene with switch
region in intron 7
Contains a 9-bp insertion
identical to CYP2D6 in intron 4
Contains one CYP2D7-like SNP in exon 8
|
|
|
Frameshift
|
|
|
Black
et al. 2011
|
|
CYP2D6*13H
Originally called CYP2D6*76
|
|
CYP2D7/2D6 hybrid gene with switch
region in exon 9
In
tandem with CYP2D6*1
|
|
|
Frameshift
|
|
|
Gaedigk
et al., 2010a
|
|
CYP2D6*14A
|
CYP2D6.14A
|
100C>T;
1758G>A; 2850C>T; 4180G>C
|
29
|
|
P34S; G169R; R296C; S486T
|
None
(d)
|
None (b, dx)
|
Wang, 1992
Wang et al., 1999
Sakuyama et al., 2008
|
|
CYP2D6*14B
|
CYP2D6.14B
|
intron 1 conversion with
CYP2D7 (214-245); 1661G>C; 1758G>A; 2850C>T; 4180G>C
|
|
|
G169R; R296C; S486T
|
|
Decr (b)
|
Ji et al., 2002
Sakuyama et al., 2008
|
|
CYP2D6*15
|
|
137_138insT
|
29
|
|
46Frameshift
|
None
(d, dx)
|
|
Sachse et al., 1996
|
|
CYP2D6*16
|
|
Renamed to CYP2D6*13F, see above
|
|
|
|
|
|
|
|
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*17XN
|
CYP2D6.17
|
|
|
|
|
|
|
Cai et al., 2006
|
|
CYP2D6*18
|
CYP2D6.18
|
4125_4133dupGTGCCCACT
|
29
|
CYP2D6(J9)
|
468_470dupVPT
|
None (s)
|
Decr (b, dx)
|
Yokoi et al., 1996
Sakuyama et al., 2008
|
|
CYP2D6*19
|
|
1661G>C; 2539_2542delAACT; 2850C>T; 4180G>C
|
|
|
255Frameshift
|
None
|
|
Marez et al., 1997
|
|
CYP2D6*20
|
|
1661G>C; 1973_1974insG; 1978C>T; 1979T>C; 2850C>T; 4180G>C
|
|
|
211Frameshift
|
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_2574insC;
2850C>T; 3584G>A; 4180G>C
|
|
|
267Frameshift
|
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
|
|
|
267Frameshift
|
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
|
|
Normal (b, dx)
|
Marez et al., 1997
Sakuyama et al., 2008
|
|
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
|
V136I; R296C; V338M; S486T
|
Decr.
|
Decr.
|
Marez et al., 1997
Wennerholm et al., 2001
Wennerholm et al., 2002
|
|
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
|
-1770G>A; -1584C>G;
-1253A>G;
-740C>T; -678G>A; CYP2D7 gene conversion in intron 1;
310G>T; 746C>G; 843T>G; 1661G>C; 2850C>T; 3384A>C;
3584G>A; 3790C>T; 4042G>A; 4180G>C; 4481G>A
|
|
M20
|
R296C; R440H; S486T
|
None
|
None
|
Marez et al., 1997
Allorge et al., 2005
Gaedigk et al., 2010a
|
|
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*35A
|
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., 2003a
|
|
CYP2D6*35B
|
CYP2D6.35
|
-1584C>G; CYP2D7 conversion upstream of exon 1; 31G>A; 1661G>C; 2850C>T; 4180G>C
|
|
|
V11M; R296C; S486T
|
|
|
Gaedigk
et al., 2010b
|
|
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
|
Negligible
(d)
|
Negligible
(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
|
Negligible
(d)
|
Negligible (b, dx)
|
Gaedigk et al., 2006
Sakuyama et al., 2008
|
|
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
|
271Frameshift
|
None
|
|
Leathart et al., 1998
|
|
CYP2D6*39
|
CYP2D6.39
|
1661G>C;
4180G>C
|
|
|
S486T
|
|
Normal
(b, dx)
|
Shimada et al., 2001
Sakuyama et al., 2008
|
|
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., 2002
|
|
CYP2D6*41
|
CYP2D6.2
|
-1584C;
-1235A>G; -740C>T;
-678G>A; CYP2D7 gene conversion in intron 1; 1661G>C; 2850C>T; 2988G>A;
4180G>C
|
|
|
R296C; splicing
defect; S486T
|
Decr (s)
|
Decr
|
Raimundo et al., 2000
Raimundo et al., 2004
Toscano et al., 2006
Rau et al., 2006
|
|
CYP2D6*42
|
|
-1584C; 1661G>C; 2850C>T; 3259_3260insGT; 4180G>C
|
|
|
R296C; 365Frameshift
|
None (dx)
|
|
Gaedigk
et al., 2003b
|
|
CYP2D6*43
|
CYP2D6.43
|
77G>A
|
|
M1
|
R26H
|
|
|
Marez et al, 1997
|
|
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. 2005a)
|
|
|
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
|
|
Negligible (b, dx)
|
Soyama et al.,
2004
Sakuyama et al., 2008
|
|
CYP2D6*48
|
CYP2D6.48
|
972C>T
|
|
|
A90V
|
|
Normal (b, dx)
|
Soyama et al.,
2004
Sakuyama et al., 2008
|
|
CYP2D6*49
|
CYP2D6.49
|
-1426C>T; -1235A>G; -1000G>A; 100C>T; 1039C>T; 1611T>A; 1661G>C; 4180G>C
|
|
|
P34S; F120I; S486T
|
|
Decr. (b, dx)
|
Soyama et al.,
2004
Matsunaga et al., 2009
Sakuyama et al., 2008
|
|
CYP2D6*50
|
CYP2D6.50
|
1720A>C
|
|
|
E156A
|
|
Decr (b, dx)
|
Soyama et al.,
2004
Sakuyama et al., 2008
|
|
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
|
|
Negligible (b, dx)
|
Soyama et al.,
2004
Sakuyama et al., 2008
|
|
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; S486T
|
|
|
Lee
et al., 2009
|
|
CYP2D6*53
|
CYP2D6.53
|
1598A>G; 1611T>A;
1617G>T
|
|
|
F120I; A122S
|
|
Incr (b, dx)
|
Ebisawa et al., 2005
Sakuyama et al., 2008
|
|
CYP2D6*54
|
CYP2D6.54
|
100C>T;
1039C>T; 1661G>C; 2556C>T; 4180G>C
|
|
|
P34S;
T261I; S486T
|
|
Decr (b, dx)
|
Ebisawa et al., 2005
Sakuyama et al., 2008
|
|
CYP2D6*55
|
CYP2D6.55
|
1661G>C; 2850C>T; 3790C>T; 3835A>C; 4180G>C
|
|
|
R296C; K404Q; S486T
|
|
Decr (b, dx)
|
Ebisawa et al., 2005
Sakuyama et al., 2008
|
|
CYP2D6*56A
|
|
-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; R344X
|
|
None
|
Li
et al., 2006
|
|
CYP2D6*56B
|
|
-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T;
843T>G; 1039C>T; 1661G>C; 2097A>G; 3201C>T;
3384A>C; 3582A>G, 4180G>C
|
|
|
P34S; R344X
|
|
|
Gaedigk
et al., 2007
|
|
CYP2D6*57
In tandem with CYP2D6*10
|
CYP2D6.57
|
100C>T;
310G>T; 843T>G; 887C>T; 1039C>T; 1661G>C; 3384A>C;
3582A>G; gene conversion to CYP2D7 in exon 9; 4180G>C
|
|
|
P34S; R62W; P469A; T470A; H478S;
G479A; F481V; A482S; S486T
|
|
Negligible (b, dx)
|
Soyama et al., 2006
Sakuyama et al., 2008
|
|
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 prep.
Gaedigk and Phillips, unpublished
|
|
CYP2D6*59
|
CYP2D6.2
|
1661G>C; 2291G>A;
2850C>T; 2939G>A; 4180G>C
|
|
|
R296C; S486T
|
|
Decr
|
Marez et al., 1997
Toscano
et al., 2006
|
|
CYP2D6*60
|
CYP2D6.60
|
1887insTA; 2303C>T
|
|
|
S183X
|
|
|
Lee
et al., 2009
|
|
CYP2D6*61
|
CYP2D6.61
|
3384A>C; CYP2D7
sequence from intron 7 onwards
|
|
|
P469A; T470A; H478S; G479A; F481V; A482S; S486T
|
|
|
Kramer
et al., 2009
|
|
CYP2D6*62
|
CYP2D6.62
|
4044C>T
|
|
|
R441C
|
|
None
|
Klein et al., 2007
|
|
CYP2D6*63
|
CYP2D6.63
|
-1584C>G; -1235A>G;
-740C>T;
-678G>A; intron 1 conversion with CYP2D7 (214-245); 310G>T;
746C>G; 843T>G; 1661G>C; 2850C>T;
3384A>C; 3584G>A; 3790C>T; CYP2D7 sequence from exon 8 onwards
|
|
|
R296C; P469A; T470A; H478S; G479A;
F481V; A482S; S486T
|
|
|
Kramer
et al., 2009
|
|
CYP2D6*64
|
CYP2D6.64
|
-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T;
843T>G; 1023C>T; 1661G>C;
2097A>G; 3384A>C; 3582A>G; 4180G>C; 4401C>T
|
|
|
P34S; T107I; S486T
|
|
|
Gaedigk
et al., 2008a
|
|
CYP2D6*65
|
CYP2D6.65
|
100C>T; 310G>T;
843T>G; 1661G>C; 2850C>T; 3384A>C; 3584G>A;
3790C>T; 4180G>C; 4481G>A
|
|
|
P34S; R296C; S486T
|
|
|
Gaedigk
et al., 2008a
|
|
CYP2D6*66
|
|
Renamed to CYP2D6*13F, see above
|
|
|
|
|
|
|
|
CYP2D6*67
|
|
Renamed to CYP2D6*13E, see above
|
|
|
|
|
|
|
|
CYP2D6*68A
|
CYP2D6.68
|
-1426C>T;
-1235A>G; -1000G>A; 100C>T;
310G>T; CYP2D7 sequence from intron 1 onwards
|
|
|
P34S; CYP2D7 sequence from amino acid 61
|
|
|
Kramer
et al., 2009
|
|
CYP2D6*68B
|
CYP2D6.68
|
Similar but not identical
switch region compared
to CYP2D6*68A
|
|
|
|
|
|
Gaedigk et al.,
2011
|
|
CYP2D6*69
|
|
-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T;
746C>G; 843T>G; 1062A>G; 1661G>C; 2850C>T; 2988G>A;
3384A>C; 3584G>A; 3790C>T; 4180G>C; 4401C>T;
4481G>A
|
|
|
P34S; R296C; splicing
defect; S486T
|
Decr.
|
|
Gaedigk
et al., 2008b
|
|
CYP2D6*70
|
CYP2D6.70
|
-175G>A; 310G>T;
843T>G; 1608G>A; 1659G>A; 1661G>C; 3183G>A; 3384A>C; 4180G>C
|
|
|
V119M; V136I; V338M; S486T
|
|
|
Matimba et al., 2009
|
|
CYP2D6*71
|
CYP2D6.71
|
-1584C>G; 125G>A;
1494 T>C
|
|
|
G42E
|
|
|
Zhou
et al., 2009
|
|
CYP2D6*72
|
CYP2D6.72
|
-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T;
843T>G; 1039C>T; 1661G>C; 2097A>G; 3318G>A; 3384A>C;
3582A>G; 4180G>C; 4401C>T
|
|
|
P34S; E383K; S486T
|
|
Decr.
|
Matsunaga et al., 2009
|
|
CYP2D6*73
|
CYP2D6.73
|
-740C>T, CYP2D7 gene
conversion intron 1 (214-245), 310G>T, 746C>G, 843T>G, 1013G>A,
1661G>C, 2850C>T, 3384A>C,
3584G>A, 3790C>T, 4180G>C, 4535insT
|
|
|
V104M, R296C, S486T
|
|
|
Wright et al.,
2010
|
|
CYP2D6*74
|
CYP2D6.74
|
974C>A,
3609G>T
|
|
|
L91M
|
|
|
Wright et al.,
2010
|
|
CYP2D6*75
|
CYP2D6.75
|
4045G>A
|
|
|
R441H
|
|
|
Qin
et al., 2008
|
|
CYP2D6*76
|
|
Renamed to CYP2D6*13H, see above
|
|
|
|
|
|
|
|
CYP2D6*77
|
|
Renamed to CYP2D6*13A2, see above
|
|
|
|
|
|
|
|
CYP2D6*78
|
|
Renamed to CYP2D6*13D, see above
|
|
|
|
|
|
|
|
CYP2D6*79
|
|
Renamed to CYP2D6*13B, see above
|
|
|
|
|
|
|
|
CYP2D6*80
|
|
Renamed to CYP2D6*13C, see above
|
|
|
|
|
|
|
|
CYP2D6*81
|
|
To be released
|
|
|
|
|
|
|
|
CYP2D6*82
|
CYP2D6.82
|
CYP2D7 gene conversion in exon 2:
974C>A; 984A>G; 997C>G; 1014T>C;
1022_1023AC>TA; 1028A>G; 1036T>C
|
|
|
L91M; H94R; V104A; T107Y; I109V
|
|
|
Contreras et al., 2011
|
|
CYP2D6*83
|
CYP2D6.83
|
843T>G; gene
conversion to CYP2D7 in exon 9; 4180G>C
|
|
|
P469A; T470A; H478S; G479A; F481V; A482S; S486T
|
|
|
Gaedigk et al.,
2011
|
|
CYP2D6*84-101
|
|
To be released
|
|
|
|
|
|
|
|
CYP2D6*102
|
|
Intron 1 conversion with
CYP2D7 (214-245); 310G>T; 972C>T; 1661G>C; 2850C>T;
3384A>C; 3790C>T; 4180G>C;
4481G>A
|
|
|
A90V; R296C; S486T
|
|
|
Bastaki et al., in press
|
|
CYP2D6*103
|
|
Intron 1 conversion with
CYP2D7 (214-245); 310G>T; 972C>T; 1661G>C; 1749A>G;
2850C>T; 3384A>C;
3790C>T; 4180G>C;
4481G>A
|
|
|
A90V; N166D;
R296C; S486T
|
|
|
Bastaki et al., in press
|
|
CYP2D6*104
|
|
Intron 1 conversion with
CYP2D7 (214-245); 310G>T; 843T>G; 1661G>C; 1720A>T; 2850C>T; 3384A>C;
3790C>T; 4180G>C;
4481G>A
|
|
|
E156A; R296C; S486T
|
|
|
Bastaki et al., in press
|
|
CYP2D6*105
|
|
Intron 1 conversion with
CYP2D7 (214-245); 310G>T; 746C>G; 843T>G; 1661G>C; 2850C>T; 3268T>C;
3384A>C; 3790C>T; 4180G>C;
4481G>A
|
|
|
R296C; F366S; S486T
|
|
|
Bastaki et al., in press
|
|
Additional SNPs, where the haplotype has not
yet been determined
|
|
|
|
-98C>T; -43insG; 1923C>T; 1998T>C;
2303C>T; 2663G>A; 2760T>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
|
|
|
|
CYP2D7 gene conversion in
intron 4 (2050-2392)
|
|
|
|
|
|
Tandon et al., manuscript in prep.
|
|
|
|
2466T>C
|
|
|
L231P
|
|
|
Tandon et al., manuscript in prep.
|
|
|
|
2606G>A*
|
*Part of novel CYP2D7 gene
conversion in exon 5 (2470-2610) that includes 2470T>C and 2575C>A
|
E278K
|
|
|
Tandon et al., manuscript in prep.
|
|
|
|
2610A>T*
|
M279K
|
|
|
Tandon et al., manuscript in prep.
|
|
|
|
1621 G>T
|
|
|
R123L
|
|
|
Matimba et al., 2009
|
|
|
|
4057 G>A
|
|
|
G445E
|
|
|
Matimba et al., 2009
|
|
|
|
2452T>C
|
|
|
|
|
|
Wright et al.,
2010
|
|
|
|
4069C>A
*Predicted
on a *4 background
|
|
|
A449D
|
|
|
Contreras et al., 2011
|
|
|
|
3160G>C
|
|
|
R330P
|
|
|
Contreras et al., 2011
|
|
|
|
4083T>G
|
|
|
F454V
|
|
|
Fuselli
et al., 2010
|
|
|
|
4176G>C
|
|
|
V485L
|
|
|
Fuselli
et al., 2010
|
|
|
|
3180G>A
|
|
|
D337N
|
|
|
Fuselli
et al., 2010
|
|
|
|
4174T>G
|
|
|
L484R
|
|
|
Fuselli
et al., 2010
|
|
|
|
2818A>G
|
|
|
N285S
|
|
|
Fuselli
et al., 2010
|