Professional Documents
Culture Documents
33 Varian Alel CYP2A6
33 Varian Alel CYP2A6
Allele
Protei
n
Nucleotide changes
cDNA*
Trivial Effect
name
Gene*
Enzyme activity
In vivo
Invit
ro
Normal
Norm
al
Referenc
es
*To be
*To be considered CYP2A6*1A, the
consideredCYP2A6*1A, genomic reference sequence must
the cDNA reference
be changed to 51G.
sequence must be
changed to 51G.
CYP2A6*1A
CYP2A
6.1
None
None
Yamano et
al., 1990
CYP2A6*1B1(fo CYP2A
rmerly CYP2A6*1B, 6.1
CYP2A6*1B2(h
Oscarson e
t al.,
1999b
Ariyoshi et
al., 2000
Pitarque et
al., 2004
gene conversion in 3
flanking region
Kiyotani et
al., 2002
CYP2A
6.1
CYP2A6*1B3(fo CYP2A
rmerly CYP2A6*1C) 6.1
Incr.?
Yamano et
al., 1990
Nakajima e
t al., 2001
Pitarque et
al., 2004
CYP2A
6.1
gene conversion in 3
flanking region
Mwenifum
bo et al.,
2010
CYP2A6*1B5Te CYP2A
ntative allele
6.1
gene conversion in 3
flanking region
-1680A>G; -1579T>C;
-1301A>C; -1289G>A;
-1013A>G; 1620T>C; gene
conversion in 3 flanking region
Haberl et
al., 2005
CYP2A6*1B6Pr CYP2A
edicted haplotype/
6.1
gene conversion in 3
flanking region
-1680A>G; -1579T>C;
-1301A>C; -1289G>A;
-1013A>G; 1620T>C; 6285A>G;
6293T>C; gene conversion in 3
flanking region
Haberl et
al., 2005
CYP2A6*1B7Pr CYP2A
edicted haplotype/
6.1
gene conversion in 3
flanking region
-1680A>G; -1579T>C;
-1464A>T; -1301A>C;
-1289G>A; 1620T>C; gene
conversion in 3 flanking region
Haberl et
al., 2005
CYP2A6*1B8Te CYP2A
ntative allele
6.1
gene conversion in 3
flanking region
-1680A>G; -1579T>C;
-1464A>T; -1301A>C;
-1289G>A; -1013A>G; 1620T>C;
gene conversion in 3 flanking
region
Haberl et
al., 2005
CYP2A6*1B9Pr CYP2A
edicted haplotype/
6.1
gene conversion in 3
flanking region
-1680A>G; -1579T>C;
-1464A>T; -1301A>C;
-1289G>A; -1013A>G; 1620T>C;
6390C>G; gene conversion in 3
flanking region
Haberl et
al., 2005
CYP2A6*1B10P CYP2A
redicted haplotype/
6.1
gene conversion in 3
flanking region
-1680A>G; -1579T>C;
-1464A>T; -1301A>C;
-1289G>A; -1013A>G; 1620T>C;
6389C>G; gene conversion in 3
flanking region
Haberl et
al., 2005
CYP2A6*1B11P CYP2A
redicted haplotype/
6.1
gene conversion in 3
flanking region
-1680A>G; -1579T>C;
-1464A>T; -1301A>C;
-1289G>A; -1013A>G; 1620T>C;
5628C>T; gene conversion in 3
Haberl et
al., 2005
CYP2A6*1B4
Tentative allele
Tentative allele
Tentative allele
Tentative allele
Tentative allele
flanking region
CYP2A6*1B12P CYP2A
redicted haplotype/
6.1
51G>A; gene
conversion in 3
flanking region
CYP2A6*1B13
CYP2A
6.1
Nakajima e
t al., 2006
CYP2A6*1B14
CYP2A
6.1
51G>A; gene
conversion in 3'-UTR;
1636C>G
Mwenifum
bo et al.,
2007
CYP2A6*1B15
CYP2A
6.1
-1301A>C; -1289G>A;
-967A>C; 1381_1382CT>TC;
1471_1476delCTCTCT; 1620T>C;
3225A>G; gene conversion in 3'UTR; 6782C>G;
6935_6936insCACTT;
6960_6961insGAAAAG;
7160A>G
Mwenifum
bo et al.,
2007
CYP2A6*1B16
CYP2A
6.1
Mwenifum
bo et al.,
2007
CYP2A6*1B17
CYP2A
6.1
51G>A; 1005C>T;
gene conversion in 3'UTR
Mwenifum
bo et al.,
2008
Tentative allele
Haberl et
al., 2005
6960_6961insGAAAAG;
6989A>G; 7160A>G
CYP2A6*1C
CYP2A6*1DPre
dicted haplotype
See CYP2A6*1B3
CYP2A
6.1
CYP2A6*1E
-1013A>G
Pitarque et
al., 2004
See CYP2A6*1B1
CYP2A6*1F
CYP2A
6.1
1224C>T
5717C>T
Nakajima e
t al., 2004
CYP2A6*1G
CYP2A
6.1
1224C>T
5717C>T; 5825A>G
Nakajima e
t al., 2004
CYP2A6*1HPre
CYP2A
6.1
dicted haplotype
-745A>G
von
Decr.? Richter et
al., 2004
-1013A>G; -745A>G
CYP2A6*1JPred CYP2A
icted haplotype
6.1
von
Richter et
al., 2004
-1301A>C; -1289G>A;
-1199_-1198ins316bpAlu; 686A>G; 51G; 431C>T; 1620T>C;
1779G>A; 2483G>A; 2994T>C;
3378C>T; 3904G>A 4074delA;
5668A; 6354T>C; 7160A>G
Mwenifum
bo et al.,
2008
Mwenifum
bo et al.,
2010
CYP2A6*1K
CYP2A
6.1
CYP2A6*1L
CYP2A
6.1
CYP2A6*1X2A
CYP2A
6.1
CYP2A6 gene
duplication
CYP2A6*1X2B
CYP2A
6.1
CYP2A6 gene
duplication
459G>A; 657C>T
Rao et al.,
2000
Fukami et
al., 2007
CYP2A6*2
CYP2A
6.2
51G>A; 479T>A
CYP2A6*3
CYP2A
6.3
CYP2A6/CYP2A7 hybrid
v2
CYP2A6*4A
CYP2A6 deleted
CYP2A6
del,
E-type
CYP2A6*4B
CYP2A6 deleted
CYP2A6*4C
51G>A; 1799T>A
v1
L160H
None
None
Yamano et
al., 1990
Hadidi et
al., 1997
Oscarson e
t al., 1998
FernandezSalgueroet
al., 1995
Oscarson e
t al., 1999a
Nunoya et
al., 1999a
Nunoya et
al., 1999b
Ariyoshi et
al., 2000
Nunoya et
al.,
1998
Ariyoshi et
al., 2002
Ariyoshi et
al., 2004
CYP2A6*4D
CYP2A6 deleted
Oscarson et
al., 1999b
CYP2A6*4E
CYP2A6 deleted
CYP2A6 deleted
Mwenifumb
o et al., 2008
CYP2A6*4F
CYP2A6 deleted
CYP2A6 deleted
Mwenifumb
o et al., 2008
CYP2A6*4G
CYP2A6 deleted
CYP2A6 deleted
Mwenifumb
o et al., 2010
CYP2A6*4H
CYP2A6 deleted
CYP2A6 deleted
Mwenifumb
o et al., 2010
CYP2A6*5
CYP2A
6.5
1436G>T; gene
conversion in the 3
flanking region
flanking region
CYP2A6*6
CYP2A
6.6
383G>A
CYP2A6*7
CYP2A
6.7
1412T>C; gene
conversion in the 3'
flanking region
CYP2A6*8
CYP2A
6.8
1454G>T; gene
conversion in the 3'
flanking region
1703G>A
6558T>C; gene conversion in the 3'
flanking region
G479V
None
CYP2A
6.1
CYP2A6*9B
CYP2A
6.1
1547C>G
Kitagawa et
al., 2001
Decr.
I471T
(Decr.)
Ariyoshi et
al., 2001
Decr.
Xu et al.,
2002
Normal
Ariyoshi et
al., 2001
Xu et al.,
2002
R485L
TATA box
-1680A>G: -1301A>C;
-1289G>A; -1013A>G;
-48T>G; 1620T>C; 1836G>T;
6354T>C; 6692C>G
Oscarson et
al., 1999b
R128Q
-1013A>G; -48T>G
CYP2A6*9A
None
TATA box
Decr .
Pitarque et
al., 2001
Yoshida et
al., 2003
Decr. Kiyotani et
al., 2003
von
Richter et
al., 2004
Haberl et al.,
2005
CYP2A6*10
CYP2A
6.10
1412T>C;1454G>T;
gene conversion in the
3' flanking region
CYP2A6*11
CYP2A
6.11
670T>C
CYP2A6*12A
CYP2A
6.12
3391T>C
Yoshida et
al., 2002
Xu et al.,
2002
I471T; R485L
Decr.
S224P
Decr.
Decr.
Daigo et al.,
2002
10 aa
substitutions
Decr.
Decr.
Oscarson et
al., 2002
CYP2A6*12B
CYP2A
6.12
exons 1-2
ofCYP2A7 origin;
exons 3-9
ofCYP2A6 origin;
1547C>G
10 aa
substitutions
Haberl et al.,
2005
CYP2A6*12C
CYP2A
6.12
exons 1-2
ofCYP2A7 origin;
exons 3-9
ofCYP2A6 origin;
1547C>G
10 aa
substitutions
Haberl et al.,
2005
CYP2A6*13
CYP2A
6.13
13G>A
-48T>G; 13G>A
G5R
Kiyotani et
al., 2002
CYP2A6*14
CYP2A
6.14
51G>A; 86G>A
51G>A; 86G>A
S29N
Kiyotani et
al., 2002
CYP2A6*15
CYP2A
6.15
580A>G
-48T>G; 2134A>G
K194E
Kiyotani et
al., 2002
CYP2A6*16
CYP2A
6.16
607C>A
2161C>A
R203S
Kiyotani et
al., 2002
CYP2A6*17
CYP2A
6.17
459G>A;1093G>A;
1224C>T
209C>T; 1779G>A;
4489C>T; 5065G>A; 5163G>A;
5717C>T; 5825A>G
V365M
CYP2A6*18A
CYP2A
6.18
1175A>T
5668A>T
Y392F
Decr.
Decr. Fukami et
al., 2004
Decr
Fukami et
al., 2005a
CYP2A6*18B
CYP2A
6.18
51G>A;1175A>T;
1191T>C; 1209T>C
Y392F
Decr. Fukami et
al., 2005a
CYP2A6*18CPr CYP2A
edicted haplotype
6.18
1175A>T; 1546C>G
-1680A>G: -1579T>C;
-1464A>T; -1301A>C;
-1289G>A; -1013A>G;
1620T>C; 5668A>T; 6692C>G
Y392F
CYP2A6*19
CYP2A
6.19
1175A>T;1412T>C;
gene conversion in the
3' flanking region
Y392F; I471T
CYP2A6*20
CYP2A
6.20
51G>A;587_588delAA
; 1191T>C; 1546C>G
51G>A; 2141_2142delAA;
2296C>T; 5684T>C; 6692C>G
196Frameshift
Decr.
CYP2A6*21Pred CYP2A
icted haplotype
6.21
51G>A; 1427A>G
51G>A; 6573A>G
K476R
Decr.
CYP2A6*22Pred CYP2A
icted haplotype
6.22
51G>A; 474C>G;478C
>A
D158E; L160I
CYP2A6*23
CYP2A
6.23
607C>T
2161C>T
R203C
Decr.
CYP2A6*24A
CYP2A
6.24
V110L; N438Y
Decr.
Haberl et al.,
2005
Decr. Fukami et
al., 2005a
None
Fukami et
al., 2005b
Mwenifumb
o et al., 2008
Haberl et al.,
2005
Mwenifumb
o et al., 2008
Haberl et al.,
2005
Decr. Ho et al.,
2008
Mwenifumb
o et al., 2008
CYP2A6*24B
CYP2A
6.24
V110L; N438Y
Mwenifumb
o et al., 2008
CYP2A6*25
CYP2A
6.25
22C>T; 352T>C;
1440T>C
F118L
Mwenifumb
o et al., 2008
CYP2A6*26
CYP2A
6.26
Decr. Mwenifumb
o et al., 2008
CYP2A6*27
CYP2A
6.27
22C>T; 352T>C;608_6
09GC>A; 1440T>C
-1301A>C; -1289G>A;
-745A>G; 22C>T;
51G;1620T>C; 1672T>C;2162_21
63GC>A; 2296C>T; 2483G>A;
2994T>C; 3872G>A; 4071delA;
4636A>C; 5668A; 5857T>A;
6586T>C; 6692C>G; 7160A>G
F118L;R203Fra
meshift
Decr. Mwenifumb
o et al., 2008
CYP2A6*28A
CYP2A
6.28
51G>A;
1245C>T;1252A>G;12
57G>C
N418D; E419D
Mwenifumb
o et al., 2008
-1301A>C; -1289G>A;
-745A>G; 22C>T; 51G; 768A>T;
1620T>C;1672T>C; 2296C>T;
2483G>A; 2605G>A; 2921G>A;
2994T>C; 4636A>C; 5668A;
6586T>C; 6692C>G; 7160A>G
CYP2A6*28B
CYP2A
6.28
51G>A;
1245C>T;1252A>G;12
57G>C
N418D; E419D
Mwenifumb
o et al., 2008
CYP2A6*29
To be
released
CYP2A6*30
To be
released
CYP2A6*31A
CYP2A
6.31
16A>C
-1289G>A; -1013A>G;
-492_470delCCCCTTCCTGAGACCCT
TAACCC
insAATCCATATGTGGAATCTG;
16A>C; 51G; 1339C>G; 1620T>C;
2721G>A; 2994T>C; 3255A>G;
3315C>T; 5668A; 6692C>G;
7160A>G; 7568C>T
M6L
Mwenifumb
o et al., 2008
CYP2A6*31B
CYP2A
6.31
16A>C; 201C>T
-1289G>A; -1013A>G;
-492_470delCCCCTTCCTGAGACCCT
TAACCC
insAATCCATATGTGGAATCTG;
-975T>C; 16A>C; 51G; 467C>T;
1339C>G; 1620T>C; 2721G>A;
2994T>C; 3225A>G; 3315C>T;
4074delA; 5668A; 6692C>G;
7160A>G
M6L
Mwenifumb
o et al., 2008
CYP2A6*32
To be
released
CYP2A6*33
To be
released
CYP2A6*34
CYP2A
6.34
M6L; V13A;
K30R; Q53H;
M54I; Y55C;
N56D; L58I;
I61F; R64C;
V117A; R128L;
S131A; A153S;
D158E; L160I;
G162S; G164H;
K194E; R203S;
M204V
CYP2A6*35A
CYP2A
6.35
1312A>T
-1301A>C; -1289G>A;
-1013A>G; 720G>A;
1137C>G; 1620T>C;
2483G>A; 3225A>G;
6218A>G; 6282A>G;
6293T>C;
6354T>C; 6458A>T; gene
conversion in the 3 flanking
region; 6782C>G; 7160A>G
N438Y
Decr.
Decr. Koudsi et
al., 2009
CYP2A6*35B
CYP2A
6.35
22C>T; 1312A>T
N438Y
Decr.
Decr. Koudsi et
al., 2009
CYP2A6*36
CYP2A
6.36
N438Y; I471T
Iulio et al.,
2009
Koudsi et
al., 2009
CYP2A6*37
CYP2A
6.37
N438Y; I471T;R
485L
Koudsi et
al., 2009
CYP2A6*38
CYP2A
6.38
1051T>C
5023A>G
Y351H
Bloom et al.,
2011
CYP2A6*39
CYP2A
6.39
171C>A; 202G>A;
459G>A; 1224C>T
V68M
Decr.
expr./Decr.
activity per
pmol
Piliguan et
al., 2014
CYP2A6*40
CYP2A
6.40
I149M
Decr.
expr./Decr.
activity per
pmol
Piliguian et
al., 2014
CYP2A6*41
CYP2A
6.41
R265Q
None
CYP2A6*42
CYP2A
6.42
I268T
Decr.
expr./Incr.
activity per
pmol
Piliguian et
al., 2014
CYP2A6*43
CYP2A
6.43
908C>T
4406C>T
T303I
Decr.
expr./Uncha
nged
activity per
pmol
Piliguian et
al., 2014
CYP2A6*44
CYP2A
6.44
51G>A; 1168G>A;
1245C>T;1252A>G; 1257G
>C
51G>A; 5661G>A;
5738C>T; 5745A>G;5750G>
C
E390K; N418D;
E419D
Decr.
expr./Incr.
activity per
Piliguian et
al., 2014
Decr. Piliguian et
al., 2014
pmol
CYP2A6*45
CYP2A
6.45
L462P
Decr.
expr./Decr.
activity per
pmol
Piliguian et
al., 2014
Haberl et al.,
2005
Additional SNPs, where the haplotype has not yet been determined
1620T>C; 1836G>T; 1874G>T;
1890G>C;
2026C>T; 3396G>A; 3570C>G;
4489C>T; 4932C>A; 5336G>A;
6282A>G; 6354T>C; 6692C>G;
6832A>G; 6835C>A
Kiyotani et
al., 2002
209C>T
Saito et al.,
2003
Solus et al.,
2004
6734G>C; 6735C>G
567C>T
R101X
Haberl et al.,
2005
2061T>G
D169E
Haberl et al.,
2005
3515G>A
R265Q
Haberl et al.,
2005
5661G>A
E390K
Haberl et al.,
2005
Haberl et al.,
2005
Changes made since the last update (27-Jan-2012) are marked in red.
Allele frequencies: Mizutani, 2003; 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
http://www.cypalleles.ki.se/cyp2a6.htm