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

CYP2B6.31

937C>A

Rs 193922917

L313I

Röhrich et al., 2016

CYP2B6*32

CYP2B6.32

1219G>A

Rs 193922918

A407T

Röhrich et al., 2016

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 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