|
|
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
|