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)

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; 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>T4180G>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; H94Rsplicing 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>T4180G>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 defectP325L; 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*4P

 

-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; 2576C>T; 3384A>C; 3435C>A; 3582A>G; 4180G>C; 4401C>T

 

 

P34S; L91M; H94R; splicing defect; P268S; S486T

 

 

Dodgen et al., 2013

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*13 alleles

 

All CYP2D6*13 alleles share a CYP2D7/2D6 hybrid gene structure, with CYP2D7 sequence in exon 1 leading to an insertion (137_138insT) and frameshift of the open reading frame, thereby obliterating enzyme activity.

The following GenBank entries of CYP2D7/2D6 hybrid allelic variants all share a CYP2D7-derived exon 1 with the detrimental T-insertion, but differ in respect to the region in which CYP2D7 switches to CYP2D6.

Some switch regions contain sequences that may be interrelated as CYP2D6 or CYP2D7; therefore, exact switch regions cannot be determined or remain open to interpretation.

There is no diagnostic SNP for CYP2D6*13, and thus assigning it is best done by sequencing the entire gene region.

See Sim et al., 2012 for more information.

Frameshift

None 

 

Panserat et al., 1995

 

 

Genbank accession number

Sequence description

 

 

 

EU098008

(Originally called CYP2D6*13, temporarily called CYP2D6*13A1)

CYP2D7/2D6 hybrid gene with switch region in intron 1.

Found as a single gene or in tandem arrangements with one or multiple CYP2D6*1.

Panserat et al., 1995
Black et al., 2012

 

 

GQ162807

(Originally called CYP2D6*77, temporarily called CYP2D6*13A2)

CYP2D7/2D6 hybrid gene with switch region in intron 1.

Switch region downstream compared to that of EU098008. Found in a tandem arrangement with CYP2D6*2.

Gaedigk et al., 2010a

 

 

HM641839

(Originally called CYP2D6*79, temporarily called CYP2D6*13B)

CYP2D7/2D6 hybrid gene with switch region in exon 2.

Found as a single gene and in a tandem arrangement with CYP2D6*2.

Gaedigk et al., 2010b

 

 

HM641840

(Originally called CYP2D6*80, temporarily called CYP2D6*13C)

CYP2D7/2D6 hybrid gene with switch region in intron 2-exon 3.

Found as a single gene. 

Gaedigk et al., 2010b

 

 

GQ162808

(Originally called CYP2D6*78, temporarily called CYP2D6*13D)

CYP2D7/2D6 hybrid gene with switch region in intron 4.

Found in tandem arrangement with CYP2D6*2.

Gaedigk et al., 2010a

 

 

EU098009

(Originally called CYP2D6*67, temporarily called CYP2D6*13E)

CYP2D7/2D6 hybrid gene with switch region in exon 5.

Found as a single gene. 

Gaedigk et al., 2010b

 

 

EU093102

(Originally called CYP2D6*16 and CYP2D6*66, temporarily called CYP2D6*13F)

CYP2D7/2D6 hybrid gene with switch region in exon 7-intron 8.

Variants of this hybrid exist which have the same switch region characteristics, but differ by one or a few nucleotides.

Found as a single gene. 

Daly et al., 1996

Gaedigk et al., 2008a

 

 

JN618990

(Temporarily called CYP2D6*13G1)

CYP2D7/2D6 hybrid gene with switch region in intron 7.

Found as a single gene. 

Black et al., 2012

 

 

HQ670229

(Temporarily called CYP2D6*13G2)

CYP2D7/2D6 hybrid gene with switch region in intron 7.

Found as a single gene. 

Black et al., 2012

 

 

GQ162806

(Originally called CYP2D6*76, temporarily called CYP2D6*13H)

CYP2D7/2D6 hybrid gene with switch region in exon 9.

Found in tandem arrangement with CYP2D6*1.

Gaedigk et al., 2010a

Continuing…

 

Allele

Protein

Nucleotide changes

XbaI hap

Trivial name

Effect

In vivo

In vitro

 

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

 

See CYP2D6*13 for details

 

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_2574ins
C;
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_1864insTTTCGCCCCx2; 2850C>T; 4180G>C

 

  

T107I; 174_175insFRPx2; 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; 363Frameshift

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., unpublished


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

See CYP2D6*13 for details

 

 

 

 

CYP2D6*67

See CYP2D6*13 for details

 

 

 

 

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

See CYP2D6*13 for details

 

 

 

 

 

CYP2D6*77

See CYP2D6*13 for details

 

 

 

 

CYP2D6*78

See CYP2D6*13 for details

 

 

 

 

CYP2D6*79

 

See CYP2D6*13 for details

 

 

 

 

CYP2D6*80

 

See CYP2D6*13 for details

 

 

 

 

CYP2D6*81

CYP2D6.81

2579C>T; 2606G>A; 2610T>A

 

 

R269X; E278K; M279K

 

 

Chua et al., 2013

CYP2D6*82

CYP2D6.82

CYP2D7 gene conversion in exon 2:
974C>A; 984A>G; 997C>G; 1014T>C; 1022A>T; 1023C>A; 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

CYP2D6.84

-1740C>T; -1235A>G; -740C>T; -678A>G; 18G>A;  intron 1 conversion with CYP2D7 (214-245); 310G>T; 746C>G; 843T>G; 1661G>C; 2574C>A; 2850C>T; 3384A>C; 3491G>A; 3584G>A; 3790C>T; 4180G>C; 4481G>A

 

 

P267H; R296C; S486T

 

 

Dodgen et al., 2013

CYP2D6*85

CYP2D6.85

-1740C>T; -1298G>A; -1235A>G; -740C>T; 102A>G; 310G>T; 607G>A; 746C>G; 843T>G; 1513C>T; 1661G>C; 2308G>A; 2850C>T; 3384A>C; 3584G>A; 3790C>T; 4157T>G; 4180G>C

 

 

R296C; H478Q; S486T

 

 

Dodgen et al., 2013

CYP2D6*86

CYP2D6.86

2606G>A; 2610T>A

 

 

E278K; M279K

 

 

Dodgen et al., 2013

CYP2D6*87

CYP2D6.87

14C>T; 100C>T; 310G>T; 843T>G; 1039C>T; 1661G>C; 4180G>C

 

 

A5V; P34S; S486T

 

 

Qian et al., 2013

CYP2D6*88

CYP2D6.88

746C>G; intron 1 conversion with CYP2D7(214-247); 843T>G; 1014T>C; 1661G>C; 3384A>C; 3584G>A; 3790C>T; 4180G>C

 

 

V104A; S486T

 

 

Qian et al., 2013

CYP2D6*89

CYP2D6.89

1678T>C

 

 

L142S

 

 

Qian et al., 2013

CYP2D6*90

CYP2D6.90

1693A>G

 

 

K147R

 

 

Qian et al., 2013

CYP2D6*91

CYP2D6.91

1735G>C; 2850C>T; 2988G>A

 

 

C161S; R296C; splicing defect

 

 

Qian et al., 2013

CYP2D6*92

CYP2D6.92

1995delC

 

 

218Frameshift

 

 

Qian et al., 2013

CYP2D6*93

CYP2D6.93

2519A>C

 

 

T249P

 

 

Qian et al., 2013

CYP2D6*94A

CYP2D6.94

100C>T; 310G>T; 843T>G; 1039C>T; 1661G>C; 3181A>G; 4180G>C

 

 

P34S; D337G; S486T

 

 

Qian et al., 2013

CYP2D6*94B

CYP2D6.94

100C>T; 843T>G; 1039C>T; 1661G>C; 3181A>G; 3384A>C; 4180G>C

 

 

P34S; D337G; S486T

 

 

Qian et al., 2013

CYP2D6*95

CYP2D6.95

100C>T; 843T>G; 1039C>T; 1661G>C; 3334G>A; 3384A>C; 4180G>C

 

 

P34S; R388H; S486T

 

 

Qian et al., 2013

CYP2D6*96

CYP2D6.96

3895C>T

 

 

Q424X

 

 

Qian et al., 2013

CYP2D6*97

CYP2D6.97

4094C>A

 

 

F457L

 

 

Qian et al., 2013

CYP2D6*98

CYP2D6.98

746C>G; 843T>G intron 1 conversion with CYP2D7(214-247); 1661G>C; 2850C>T; 3384A>C; 3584G>A; 3790C>T; 4110C>G; 4180G>C

 

 

R296C; H463D; S486T

 

 

Qian et al., 2013

CYP2D6*99

 

To be released

 

 

 

 

 

 

CYP2D6*100

 

-1426C>T; -1235A>G;
-1109C>T; -1000G>A;
100C>T; 310G>T; 843T>G; 1039C>T;1661G>C; 2097A>G; 2828delC; 3384A>C; 3582A>G; 4180G>C; 4401C>T

 

 

P34S; 288Frameshift

 

 

Montane-Jaime et al., 2013

CYP2D6*101

 

-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T; 843T>G; 1039C>T; 1661G>C; 2097A>G; 2927_2945delGATCCTACATCCGGATGTG; 3384A>C; 3582A>G; 4180G>C; 4401C>T

 

 

P34S; 321Frameshift

 

 

Montane-Jaime et al., 2013

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

 

 

Qumsieh et al., 2011

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

 

 

Qumsieh et al., 2011

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

 

 

Qumsieh et al., 2011

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

 

 

Qumsieh et al., 2011

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

 

 

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.

 

 

2610T>A*

M279

 

 

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

 

 

74G>A

 

 

R25Q

 

 

Qian et al., 2013

 

 

1745C>G

 

 

F164L

 

 

Qian et al., 2013

 

 

1984G>A

 

 

E215K

 

 

Qian et al., 2013

 

 

1997T>C

 

 

 

F219S

 

 

Qian et al., 2013

 

 

2943G>A

 

 

V327M

 

 

Qian et al., 2013

 

 

3177G>A

 

 

D336N

 

 

Qian et al., 2013

 

 

3195G>A

 

 

V342M

 

 

Qian et al., 2013

 

 

3202G>A

 

 

R344Q

 

 

Qian et al., 2013

 

 

4041C>T

 

 

R440C

 

 

Qian et al., 2013

 

 

4212C>T

 

 

R497C

 

 

Qian et al., 2013

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

Changes made since the last update (27-May-2013) are marked in red.

Allele frequencies: Xie et al., 2001; Bradford, 2002; Mizutani, 2003; Solus et al., 2004, Raimundo et al., 2004;
Sistonen et al., 2007

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.

 

Due to the dominant effect of a CYP2D6 gene conversion to CYP2D7 in exon 1, which results in a nucleotide insertion and frameshift of the open reading frame, all CYP2D6 alleles containing this conversion have been consolidated under a single allele designation, i.e. CYP2D6*13, which is the allele number that was assigned to the first CYP2D7 exon 1-containing allele.

See Sim et al., 2012 for more information.

 

 


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

 

 

 

 

 

 

 

 

 

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This page was updated 21-Jan-2014 by Sarah C Sim
Questions and comments are always welcome