CYP2B6 allele nomenclature

Allele

Protein

Nucleotide changes

Effect

Enzyme activity

References

cDNA

Gene

In_vivo

In_vitro

CYP2B6*1A

CYP2B6.1

 

 

 

Normal

Normal

CYP2B6*1B

CYP2B6.1

 

-2320T>C

 

 

 

Lamba et al., 2003

CYP2B6*1C

CYP2B6.1

 

-2320T>C; 14593C>G; 15582C>T

 

 

 

Lamba et al., 2003

CYP2B6*1D

CYP2B6.1

 

-1778A>G; -1186C>G; 12917A>T

 

 

 

Lamba et al., 2003

CYP2B6*1E

CYP2B6.1

 

-1578C>T; -757C>T

 

 

 

Lamba et al., 2003

CYP2B6*1F

CYP2B6.1

 

-1224A>G

 

 

 

Lamba et al., 2003

CYP2B6*1G

CYP2B6.1

 

-750T>C

 

 

 

Lamba et al., 2003

CYP2B6*1H

CYP2B6.1

 

-2320T>C; -750T>C

 

 

 

Hesse et al., 2004

CYP2B6*1J

CYP2B6.1

 

-2320T>C; -1778A>G; -1186C>G; -750T>C

 

 

 

Hesse et al., 2004

CYP2B6*1K

CYP2B6.1

 

-1972C>T; -1578C>T; -750T>C

 

 

 

Hesse et al., 2004

CYP2B6*1L

CYP2B6.1

 

-1578C>T; -750T>C

 

 

 

Hesse et al., 2004

CYP2B6*1M

CYP2B6.1

 

-1578C>T

 

 

 

Hesse et al., 2004

CYP2B6*1N

CYP2B6.1

 

-1456T>C; -750T>C

 

 

 

Hesse et al., 2004

CYP2B6*2A

CYP2B6.2

64C>T 

64C>T

R22C

 

 

Lang et al., 2001

CYP2B6*2B

CYP2B6.2

64C>T; 216G>C

64C>T; 12740G>C

R22C

 

 

Lamba et al., 2003

CYP2B6*3

CYP2B6.3

777C>A

18045C>A

S259R

 

 

Lang et al., 2001

CYP2B6*4A

CYP2B6.4

785A>G

18053A>G

K262R

Incr.

 

Lang et al., 2001
Kirchheiner et al., 2003

CYP2B6*4B

CYP2B6.4

785A>G

-2320T>C; -1778A>G; -1186C>G; -750T>C; 18053A>G

K262R

 

 

Hesse et al., 2004

CYP2B6*4C

CYP2B6.4

785A>G

18053A>G; 12917A>T

K262R

 

 

Jacob et al., 2004

CYP2B6*4D

CYP2B6.4

785A>G

-1456T>C; -750T>C; 18053A>G

K262R

 

 

Zukunft et al., 2005

CYP2B6*5A

CYP2B6.5

1459C>T

25505C>T

R487C

 

 

Lang et al., 2001

CYP2B6*5B

CYP2B6.5

1459C>T

-2320T>C; -750T>C; 25505C>T

R487C

 

 

Hesse et al., 2004

CYP2B6*5C

CYP2B6.5

1459C>T

-591A>G; 25505C>T

R487C

 

 

Zukunft et al., 2005

CYP2B6*6A

CYP2B6.6

516G>T; 785A>G

15631G>T; 18053A>G

Q172H; K262R

Decr.

Decr. expr.

Lang et al., 2001
Tsuchiya et al., 2004
Hofmann et al., 2008

CYP2B6*6B

CYP2B6.6

516G>T; 785A>G

-1456T>C; -750T>C; 15631G>T; 18053A>G

Q172H; K262R

 

 

Hesse et al., 2004

CYP2B6*6C

CYP2B6.6

516G>T; 785A>G

-750T>C; 15631G>T; 18053A>G

Q172H; K262R

 

 

Zukunft et al., 2005

CYP2B6*7A

CYP2B6.7

516G>T; 785A>G 1459C>T

15631G>T; 18053A>G; 25505C>T  

Q172H; K262R; R487C

 

 

Lang et al., 2001

CYP2B6*7B

CYP2B6.7

516G>T; 785A>G 1459C>T

-1456 T>C; -750T>C; 15631G>T; 18053A>G; 25505C>T 

Q172H; K262R; R487C

 

 

Hesse et al., 2004

CYP2B6*8

CYP2B6.8

415A>G

13072A>G

K139E

 

Decr. expr.

Lamba et al., 2003
Lang et al., 2004

CYP2B6*9

CYP2B6.9

516G>T

-1456T>C; 15631G>T; 21563C>T

Q172H

 

 

Lamba et al., 2003

CYP2B6*10

CYP2B6.10

62A>T; 64C>T; 216G>C

62A>T; 64C>T; 12740G>C

Q21L; R22C

 

 

Lang et al., 2004

CYP2B6*11A

CYP2B6.11

136A>G

136A>G

M46V

 

Decr. expr.

Lang et al., 2004

CYP2B6*11B

CYP2B6.11

136A>G

136A>G; 18273G>A

M46V

 

Decr. expr.

Lang et al., 2004

CYP2B6*12 Tentative allele

CYP2B6.12

296G>A

12820G>A; 18273G>A

G99E

 

Decr. expr.

Lang et al., 2004

CYP2B6*13A

CYP2B6.13

415A>G; 516G>T; 785A>G

13072A>G; 15631G>T; 18053A>G; 18273G>A; 21563C>T

K139E; Q172H; K262R

 

Decr.?

Lang et al., 2004

CYP2B6*13B

CYP2B6.13

415A>G; 516G>T; 785A>G

13072A>G; 15582C>T; 15631G>T; 18053A>G; 18273G>A; 21563C>T

K139E; Q172H; K262R

 

Decr.?

Lang et al., 2004

CYP2B6*14 Tentative allele

CYP2B6.14

419G>A

13076G>A; 18273G>A

R140Q

 

Decr. act.

Lang et al., 2004

CYP2B6*15A

CYP2B6.15

1172T>A

15582C>T; 21388T>A

I391N

 

Decr. expr.

Lang et al., 2004

CYP2B6*15B

CYP2B6.15

1172T>A

15582C>T; 18273G>A; 21388T>A

I391N

 

Decr. expr.

Lang et al., 2004

CYP2B6*16

CYP2B6.16

785A>G; 983T>C

18053A>G, 21011T>C

K262R; I328T

Decr.

Decr. expr.

Wang et al., 2006

CYP2B6*17A

CYP2B6.17

76A>T; 83A>G; 85C>A; 86G>C; 933C>T

76A>T; 83A>G; 85C>A; 86G>C; 18273G>A; 18799C>T

T26S; D28G; R29T

 

 

Klein et al., 2005 

CYP2B6*17B

CYP2B6.17

76A>T; 83A>G; 85C>A; 86G>C

76A>T; 83A>G; 85C>A; 86G>C; 18273G>A

T26S; D28G; R29T

 

 

Klein et al., 2005

CYP2B6*18

CYP2B6.18

983T>C

17897C>T; 18273G>A; 18627G>A; 21011T>C

I328T

 

Decr. expr.

Klein et al., 2005

CYP2B6*19

CYP2B6.19

516G>T; 785A>G; 1006C>T

15631G>T; 18053A>G; 18273G>A; 21034C>T; 21563C>T

Q172H; K262R; R336C

 

Decr. expr.

Klein et al., 2005

CYP2B6*20

CYP2B6.20

503C>T; 516G>T; 785A>G;

15618C>T; 15631G>T; 18053A>G; 18273G>A

T168I; Q172H; K262R

 

Decr. expr.

Klein et al., 2005  

CYP2B6*21

CYP2B6.21

1282C>A

18273G>A; 21498C>A

P428T

 

Decr. expr.

Klein et al., 2005

CYP2B6*22

CYP2B6.1

 

-1848C>A; -801G>T; -750T>C, -82T>C

Incr. transcr.

 

Incr. expr.

Zukunft et al., 2005

CYP2B6*23

CYP2B6.23

1375A>G 

25421A>G 

M459V

 

 

Hiratsuka et al., 2004

CYP2B6*24

CYP2B6.24

1427G>A 

25473G>A 

G476D

 

 

Hiratsuka et al., 2004

CYP2B6*25

CYP2B6.25

1454A>T 

25500A>T

Q485L

 

 

Hiratsuka et al., 2004

CYP2B6*26

CYP2B6.26

499C>G; 516G>T; 785A>G

15614C>G; 15631G>T; 18053A>G

P167A; Q172H; K262R

Decr.

 

Gatanaga et al., 2007

CYP2B6*27

CYP2B6.27

593T>C

15708T>C; 18273G>A

M198T

 

Decr

Rotger et al., 2007a

CYP2B6*28

 

917C>G; 1132C>T

-1456T>C; -750T>C; 15837C>T; 18273G>A; 18627G>A; 18783C>G; 18912G>C; 21160C>T

T306S; R378X

 

None

Rotger et al., 2007a

CYP2B6*29

CYP2B6.29

CYP2B7/CYP2B6 hybrid (crossover in intron 4)

6A>G; 42A>C; 66C>T;
76A>T; 83A>G; 85C>A; 86G>C; 123A>G; 141T>C; 264T>G; 273G>C; 305C>T; 309G>C; 310G>A; 312C>G; 319T>G; 323T>A; 326G>A; 336T>C; 337G>A; 340A>C; 393T>C; 444G>C; 468G>A; 486G>A; 493A>G; 516G>T; 547G>A; 561A>C; 593T>C; 608A>G; 614C>G; 618T>C; 620C>T; 634G>A; 638T>C; 640G>A

CYP2B7/CYP2B6 hybrid (crossover in intron 4)

6A>G; 42A>C; 66C>T;
76A>T; 83A>G; 85C>A; 86G>C; 123A>G; 141T>C; 12788T>G; 12797G>C; 12829C>T; 12833G>C; 12834G>A; 12836C>G; 12843T>G; 12847T>A; 12850G>A; 12993T>C; 12994G>A; 12997A>C;
13050T>C; 13101G>C; 13125G>A; 15601G>A; 15608A>G;
15631G>T; 15662G>A; 15676A>C; 15708T>C; 15723A>G; 15729C>G; 15733T>C; 15735C>T; 15749G>A; 15753T>C; 15755G>A

T26S; D28G; R29T; K91N; A102V; M103I; V104M; F107V; F108Y; R109Q; V113M; I114L; E148D; M165V; Q172H; V183I; M198T; Y203C; T205S; S207L; V212I; F213S; G214S

 

 

Rotger et al., 2007b

CYP2B6*30

CYP2B6.30

CYP2B6/CYP2B7 hybrid (crossover in intron 4)

 

 

 

 

Martis et al., 2012

CYP2B6*31

 

To be released.

 

 

 

 

 

CYP2B6*32

 

To be released.

 

 

 

 

 

CYP2B6*33

CYP2B6.33

1459C>A

25505C>A

R487S

 

 

Radloff et al., 2013

CYP2B6*34

CYP2B6.34

516G>T; 785A>G; 1459C>A

-82T>C; 15631G>T; 18053A>G; 25505C>A

Q172H; K262R; R487S

 

 

Radloff et al., 2013

CYP2B6*35

CYP2B6.35

201G>A; 264T>G; 329G>T; 341T>C; 444G>T; 465G>A; 593T>C; 835G>C

-82T>C; 12725G>A; 12788T>G; 12853G>T; 12998T>C; 13101G>T; 13122G>A; 15708T>C; 18701G>C

G110V; I114T; E148D; M198T; A279P

 

 

Radloff et al., 2013

CYP2B6*36

CYP2B6.6

516G>T; 785A>G

-82T>C; 15631G>T; 18053A>G

Q172H; K262R

 

 

Radloff et al., 2013

CYP2B6*37

CYP2B6.37

516G>T; 548T>G; 785A>G

15631G>T; 15663T>G; 18053A>G

Q172H; V183G; K262R

 

 

Radloff et al., 2013

CYP2B6*38

CYP2B6.38

186T>A; 516G>T; 785A>G

12710T>A; 15631G>T; 18053A>G; 18273G>A; 21563C>T

Y62X; Q172H; K262R

 

 

Anagnostopoulos et al., 2013

Additional SNPs, where the haplotype has not yet been determined

 

 

 

18000C>T

 

 

 

Lang et al., 2001

 

 

 

17808G>A; 18273A>G; 18604G>A

 

 

 

Saito et al., 2003

 

 

 

297C>T; 365T>A; 12940delAG; 13198T>A; 15290T>G; 15414G>A; 15415C>A; 15482C>T; 15577C>G; 15794G>A; 17522A>T; 17670G>A; 17755G>C; 18166G>C; 18674C>T; 25548G>A; 25660C>A; 25866T>A; 25867A>G; 25883A>G; 26147C>G; 26594G>T; 26777G>A; 26921A>C; 26922G>A

 

 

 

Solus et al., 2004

 

 

 

18026G>A

R253H

 

 

Radloff et al., 2013

 

 

 

15752T>C

F213L

 

 

Radloff et al., 2013

 

 

 

There exists a haplotype with both the characteristic CYP2B6*6 and CYP2B6*14 SNPs, although allele designations of such a haplotype awaits additional gene sequencing.

A yet not fully characterized haplotype of Q172H, K262R, and R140Q exists

 

 

Guo-Avrutin et al., personal communication

Changes made since the last update (28-Nov-2013) 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.

OMIM GeneCards

 


Home Page Inclusion criteria
CYP1A1 CYP1A2 CYP1B1 CYP2A6 CYP2A13 CYP2B6 CYP2C8 CYP2C9 CYP2C19 CYP2D6 CYP2E1 CYP2F1 CYP2J2
CYP2R1
CYP2S1 CYP2W1 CYP3A4 CYP3A5 CYP3A7 CYP3A43 CYP4A11 CYP4A22 CYP4B1 CYP4F2 CYP5A1 CYP8A1 CYP19A1 CYP21A2 CYP26A1 POR

 This page was updated 11-Feb-2013 by Sarah C Sim
Questions and comments are always welcome