|
Allele
|
Protein
|
Nucleotide changes
|
Trivial name
|
Effect
|
Enzyme activity
|
References
|
|
cDNA*
*To be
considered CYP2A6*1A, the cDNA reference sequence must be
changed to 51G.
|
Gene*
*To be
considered CYP2A6*1A, the genomic reference sequence must be
changed to 51G.
|
In vivo
|
In vitro
|
|
CYP2A6*1A
|
CYP2A6.1
|
None
|
None
|
|
|
Normal
|
Normal
|
Yamano
et al., 1990
|
|
CYP2A6*1B1 (formerly CYP2A6*1B, has also been called
CYP2A6*1E)
|
CYP2A6.1
|
gene conversion in 3 flanking region
|
|
|
Incr.?
|
|
Yamano et al., 1990
Nakajima et al., 2001
Pitarque et al., 2004
|
|
CYP2A6*1B2 (has also been called CYP2A6*1B)
|
CYP2A6.1
|
gene conversion in the 3' flanking region
|
-1013A>G; gene conversion in the 3' flanking region
|
|
|
|
|
Oscarson et al., 1999b
Ariyoshi et al., 2000
Pitarque et al., 2004
|
|
CYP2A6*1B3 (formerly CYP2A6*1C)
|
CYP2A6.1
|
gene conversion in 3 flanking region
|
-395G>A; gene conversion in 3 flanking region
|
|
|
|
|
Kiyotani et al., 2002
|
|
CYP2A6*1B4
|
CYP2A6.1
|
gene conversion in 3 flanking region
|
gene conversion in 3 flanking region, gene conversion at 7073-7082
|
|
|
|
|
Mwenifumbo et al., 2010
|
|
CYP2A6*1B5 Tentative allele
|
CYP2A6.1
|
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*1B6 Predicted haplotype/ Tentative allele
|
CYP2A6.1
|
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*1B7 Predicted haplotype/ Tentative allele
|
CYP2A6.1
|
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*1B8 Tentative allele
|
CYP2A6.1
|
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*1B9 Predicted haplotype/ Tentative allele
|
CYP2A6.1
|
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*1B10 Predicted haplotype/ Tentative allele
|
CYP2A6.1
|
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*1B11 Predicted haplotype/ Tentative allele
|
CYP2A6.1
|
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
flanking region
|
|
|
|
|
Haberl
et al., 2005
|
|
CYP2A6*1B12 Predicted haplotype/ Tentative allele
|
CYP2A6.1
|
51G>A; gene conversion in 3 flanking region
|
51G>A; gene conversion in 3 flanking region
|
|
|
|
|
Haberl
et al., 2005
|
|
CYP2A6*1B13
|
CYP2A6.1
|
22C>T; 1545C>G; gene conversion in 3 flanking region
|
-745A>G; 22C>T; 6691C>G; gene conversion in 3-UTR
|
|
|
|
|
Nakajima
et al., 2006
|
|
CYP2A6*1B14
|
CYP2A6.1
|
51G>A; gene conversion in 3'-UTR; 1636C>G
|
51G>A; 338T>C; gene conversion in 3'-UTR; 6782C>G;
6935_6936insCACTT; 7160A>G
|
|
|
|
|
Mwenifumbo
et al., 2007
|
|
CYP2A6*1B15
|
CYP2A6.1
|
gene conversion in 3'-UTR; 1636C>G
|
-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
|
|
|
|
|
Mwenifumbo
et al., 2007
|
|
CYP2A6*1B16
|
CYP2A6.1
|
22C>T; 1191T>C; gene conversion in 3'-UTR; 1636C>G
|
-1301A>C; -1289G>A;
-745A>G; 22C>T; 1630T>C; 5684T>C; gene conversion in 3'-UTR;
6782C>G; 6935_6936insCACTT; 6960_6961insGAAAAG; 6989A>G;
7008_7009TC>GCTCTA; 7160A>G
|
|
|
|
|
Mwenifumbo
et al., 2007
|
|
CYP2A6*1B17
|
CYP2A6.1
|
51G>A;
1005C>T; gene conversion in 3'-UTR
|
51G>A; 1620T>C; 1646C>T; 2296C>T; 2483G>A; 2994T>C;
3788C>T; 4071delA; 4636A>C; 4850C>T; 4977C>T; 5668A;
6143C>A; gene conversion in
3'-UTR; 6782C>G; 6832A>G; 6835C>A; 6935_6936insCACTT;
6960_6961insGAAAAG; 6989A>G; 7160A>G
|
|
|
|
|
Mwenifumbo et al., 2008
|
|
CYP2A6*1C
|
|
See CYP2A6*1B3
|
|
|
|
|
|
|
CYP2A6*1D Predicted haplotype
|
CYP2A6.1
|
-1013A>G
|
|
|
|
|
Pitarque et al., 2004
|
|
CYP2A6*1E
|
|
See CYP2A6*1B1
|
|
|
|
|
|
|
CYP2A6*1F
|
CYP2A6.1
|
1224C>T
|
5717C>T
|
|
|
|
|
Nakajima et al., 2004
|
|
CYP2A6*1G
|
CYP2A6.1
|
1224C>T
|
5717C>T; 5825A>G
|
|
|
|
|
Nakajima et al., 2004
|
|
CYP2A6*1H Predicted haplotype
|
CYP2A6.1
|
|
-745A>G
|
|
|
|
Decr.?
|
von Richter et al., 2004
|
|
CYP2A6*1J Predicted haplotype
|
CYP2A6.1
|
|
-1013A>G; -745A>G
|
|
|
|
|
von Richter et al., 2004
|
|
CYP2A6*1K
|
CYP2A6.1
|
459G>A; 657C>T
|
-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
|
|
|
|
|
Mwenifumbo et al., 2008
|
|
CYP2A6*1L
|
CYP2A6.1
|
|
Gene conversion at
7073-7082
|
|
|
|
|
Mwenifumbo et al.,
2010
|
|
CYP2A6*1X2A
|
CYP2A6.1
|
Breakpoint at intron 8 - 3'-UTR
|
|
CYP2A6 gene duplication
|
|
|
Rao
et al., 2000
|
|
CYP2A6*1X2B
|
CYP2A6.1
|
Breakpoint at 5.2 - 5.6 kb downstream from stop codon
|
|
CYP2A6 gene duplication
|
|
|
Fukami
et al., 2007
|
|
CYP2A6*2
|
CYP2A6.2
|
51G>A; 479T>A
|
51G>A; 1799T>A
|
v1
|
L160H
|
None
|
None
|
Yamano et al., 1990
Hadidi et al., 1997
Oscarson et al., 1998
|
|
CYP2A6*3
|
CYP2A6.3
|
CYP2A6/CYP2A7 hybrid
|
v2
|
|
?
|
?
|
Fernandez-Salguero
et al., 1995
|
|
CYP2A6*4A
|
|
CYP2A6 deleted
|
CYP2A6del,
E-type
|
CYP2A6 deleted
|
None
|
|
Oscarson et al., 1999a
Nunoya et al., 1999a
Nunoya et al., 1999b
Ariyoshi et al., 2000
|
|
CYP2A6*4B
|
|
CYP2A6 deleted
|
|
CYP2A6 deleted
|
None
|
|
Nunoya
et al., 1998
Ariyoshi et al., 2002
Ariyoshi et al., 2004
|
|
CYP2A6*4C
|
Identical to the CYP2A6*4A allele (see above)
|
|
CYP2A6*4D
|
|
CYP2A6 deleted
|
|
CYP2A6 deleted
|
None
|
|
Oscarson
et al., 1999b
|
|
CYP2A6*4E
|
|
CYP2A6 deleted
|
|
CYP2A6 deleted
|
|
|
Mwenifumbo et al., 2008
|
|
CYP2A6*4F
|
|
CYP2A6 deleted
|
|
CYP2A6 deleted
|
|
|
Mwenifumbo et al., 2008
|
|
CYP2A6*4G
|
|
CYP2A6 deleted
|
|
CYP2A6 deleted
|
|
|
Mwenifumbo et al.,
2010
|
|
CYP2A6*4H
|
|
CYP2A6 deleted
|
|
CYP2A6 deleted
|
|
|
Mwenifumbo et al.,
2010
|
|
CYP2A6*5
|
CYP2A6.5
|
1436G>T; gene conversion in the 3 flanking region
|
6582G>T; gene conversion in the 3 flanking region
|
|
G479V
|
None
|
None
|
Oscarson
et al., 1999b
|
|
CYP2A6*6
|
CYP2A6.6
|
383G>A
|
1703G>A
|
|
R128Q
|
|
Decr.
|
Kitagawa
et al., 2001
|
|
CYP2A6*7
|
CYP2A6.7
|
1412T>C; gene
conversion in the 3' flanking region
|
6558T>C; gene
conversion in the 3' flanking region
|
|
I471T
|
(Decr.)
|
Decr.
|
Ariyoshi et al., 2001
Xu et al., 2002
|
|
CYP2A6*8
|
CYP2A6.8
|
1454G>T; gene
conversion in the 3' flanking region
|
6600G>T; gene
conversion in the 3' flanking region
|
|
R485L
|
Normal
|
|
Ariyoshi et al., 2001
Xu et al., 2002
|
|
CYP2A6*9A
|
CYP2A6.1
|
|
-1013A>G; -48T>G
|
|
TATA box
|
Decr .
|
Decr.
|
Pitarque et al., 2001
Yoshida et al., 2003
Kiyotani et al., 2003
von Richter et al., 2004
|
|
CYP2A6*9B
|
CYP2A6.1
|
1547C>G
|
-1680A>G: -1301A>C;
-1289G>A; -1013A>G;
-48T>G; 1620T>C;
1836G>T; 6354T>C; 6692C>G
|
|
TATA box
|
|
|
Haberl
et al., 2005
|
|
CYP2A6*10
|
CYP2A6.10
|
1412T>C; 1454G>T; gene
conversion in the 3' flanking region
|
6558T>C; 6600G>T; gene
conversion in the 3' flanking region
|
|
I471T; R485L
|
Decr.
|
|
Yoshida et al., 2002
Xu et al., 2002
|
|
CYP2A6*11
|
CYP2A6.11
|
670T>C
|
3391T>C
|
|
S224P
|
Decr.
|
Decr.
|
Daigo
et al., 2002
|
|
CYP2A6*12A
|
CYP2A6.12
|
exons 1-2 of CYP2A7 origin; exons 3-9 of CYP2A6
origin
|
|
10 aa
substitutions
|
Decr.
|
Decr.
|
Oscarson
et al., 2002
|
|
CYP2A6*12B
|
CYP2A6.12
|
exons 1-2 of CYP2A7 origin; exons 3-9 of CYP2A6
origin; 1547C>G
|
exons 1-2 of CYP2A7 origin; exons 3-9 of CYP2A6
origin; 1620T>C; 3396G>A; 4489C>T; 5163G>A; 5545G>C;
5717C>G; 6692C>G
|
|
10 aa
substitutions
|
|
|
Haberl
et al., 2005
|
|
CYP2A6*12C
|
CYP2A6.12
|
exons 1-2 of CYP2A7 origin; exons 3-9 of CYP2A6
origin; 1547C>G
|
exons 1-2 of CYP2A7 origin; exons 3-9 of CYP2A6
origin; 1620T>C; 1630G>C; 3396G>A; 4489C>T; 5163G>A;
5545G>C; 5717C>G; 6692C>G
|
|
10 aa
substitutions
|
|
|
Haberl
et al., 2005
|
|
CYP2A6*13
|
CYP2A6.13
|
13G>A
|
-48T>G;
13G>A
|
|
G5R
|
|
|
Kiyotani et al., 2002
|
|
CYP2A6*14
|
CYP2A6.14
|
51G>A; 86G>A
|
51G>A; 86G>A
|
|
S29N
|
|
|
Kiyotani et al., 2002
|
|
CYP2A6*15
|
CYP2A6.15
|
580A>G
|
-48T>G;
2134A>G
|
|
K194E
|
|
|
Kiyotani et al., 2002
|
|
CYP2A6*16
|
CYP2A6.16
|
607C>A
|
2161C>A
|
|
R203S
|
|
|
Kiyotani et al., 2002
|
|
CYP2A6*17
|
CYP2A6.17
|
459G>A; 1093G>A;
1224C>T
|
209C>T; 1779G>A; 4489C>T; 5065G>A; 5163G>A;
5717C>T; 5825A>G
|
|
V365M
|
Decr.
|
Decr.
|
Fukami et al., 2004
|
|
CYP2A6*18A
|
CYP2A6.18
|
1175A>T
|
5668A>T
|
|
Y392F
|
|
Decr
|
Fukami
et al., 2005a
|
|
CYP2A6*18B
|
CYP2A6.18
|
51G>A; 1175A>T; 1191T>C; 1209T>C
|
51G>A; 5668A>T; 5684T>C; 5702T>C
|
|
Y392F
|
|
Decr.
|
Fukami
et al., 2005a
|
|
CYP2A6*18C Predicted haplotype
|
CYP2A6.18
|
1175A>T; 1546C>G
|
-1680A>G: -1579T>C;
-1464A>T; -1301A>C;
-1289G>A; -1013A>G; 1620T>C; 5668A>T; 6692C>G
|
|
Y392F
|
|
|
Haberl
et al., 2005
|
|
CYP2A6*19
|
CYP2A6.19
|
1175A>T; 1412T>C; gene
conversion in the 3' flanking region
|
5668A>T; 6354T>C: 6558T>C; gene
conversion in the 3' flanking region
|
|
Y392F; I471T
|
|
Decr.
|
Fukami
et al., 2005a
|
|
CYP2A6*20
|
CYP2A6.20
|
51G>A; 587_588delAA; 1191T>C; 1546C>G
|
51G>A; 2141_2142delAA; 2296C>T; 5684T>C; 6692C>G
|
|
196Frameshift
|
Decr.
|
None
|
Fukami et al., 2005b
Mwenifumbo et al.,
2008
|
|
CYP2A6*21 Predicted haplotype
|
CYP2A6.21
|
51G>A; 1427A>G
|
51G>A; 6573A>G
|
|
K476R
|
Decr.
|
|
Haberl et al., 2005
Mwenifumbo et al.,
2008
|
|
CYP2A6*22 Predicted haplotype
|
CYP2A6.22
|
51G>A; 474C>G;
478C>A
|
51G>A; 1794C>G;
1798C>A
|
|
D158E; L160I
|
|
|
Haberl
et al., 2005
|
|
CYP2A6*23
|
CYP2A6.23
|
607C>T
|
2161C>T
|
|
R203C
|
Decr.
|
Decr.
|
Ho et al.,
2008
|
|
CYP2A6*24A
|
CYP2A6.24
|
312A>G; 328G>C;
1312A>T
|
-1301A>C; -1289G>A;
-1013A>G; 51G; 578A>G; 594G>C; 720G>A;
1137C>G; 1620T>C; 2483G>A; 3225A>G; 5668A; 6218A>G;
6282A>G; 6293T>C; 6354T>C; 6458A>T; gene
conversion in 3'-UTR; 6782C>G; 7160A>G
|
|
V110L;
N438Y
|
Decr.
|
|
Mwenifumbo et al., 2008
|
|
CYP2A6*24B
|
CYP2A6.24
|
312A>G; 328G>C;
1312A>T
|
-1301A>C; -1289G>A;
-1013A>G; 51G; 578A>G; 594G>C; 720G>A;
1137C>G; 1381_1382CT>TC; 1481_1486delCTCTCT; 1620T>C; 2483G>A;
3225A>G; 5668A; 6218A>G; 6282A>G; 6293T>C; 6354T>C; 6458A>T; gene
conversion in 3'-UTR; 6782C>G; 7160A>G
|
|
V110L;
N438Y
|
|
|
Mwenifumbo et al., 2008
|
|
CYP2A6*25
|
CYP2A6.25
|
22C>T; 352T>C; 1440T>C
|
-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
|
|
F118L
|
|
|
Mwenifumbo et al., 2008
|
|
CYP2A6*26
|
CYP2A6.26
|
22C>T; 352T>C; 383G>T;
390C>T; 391T>G;
1440T>C
|
-1301A>C; -1289G>A; -745A>G; 22C>T; 51G; 1165G>A;
1620T>C; 1672T>C; 1703G>T;
1710C>T; 1711T>G;
2296C>T; 2483G>A; 2994T>C; 4071delA; 4636A>C; 5668A;
6115C>T; 6586T>C; 6692C>G; 7160A>G
|
|
F118L; R128L;
S131A
|
Decr.
|
Decr.
|
Mwenifumbo et al., 2008
|
|
CYP2A6*27
|
CYP2A6.27
|
22C>T; 352T>C; 608_609GC>A;
1440T>C
|
-1301A>C; -1289G>A;
-745A>G; 22C>T; 51G;1620T>C; 1672T>C; 2162_2163GC>A;
2296C>T; 2483G>A; 2994T>C; 3872G>A; 4071delA; 4636A>C;
5668A; 5857T>A; 6586T>C; 6692C>G; 7160A>G
|
|
F118L; R203Frameshift
|
|
Decr.
|
Mwenifumbo et al., 2008
|
|
CYP2A6*28A
|
CYP2A6.28
|
51G>A; 1245C>T; 1252A>G; 1257G>C
|
-1269T>C; 51G>A; 656G>T; 1620T>C; 4681T>G; 5668A;
5738C>T; 5745A>G; 5750G>C;
6354T>C; 6361C>A; 6385G>T; 6389C>G; 6390T>C; gene conversion in 3'-UTR;
6782C>G; 7160A>G
|
|
N418D; E419D
|
|
|
Mwenifumbo et al., 2008
|
|
CYP2A6*28B
|
CYP2A6.28
|
51G>A; 1245C>T; 1252A>G;
1257G>C
|
-1269T>C; 51G>A; 656G>T; 1381_1382CT>TC;
1481_1486delCTCTCT; 1620T>C; 4681T>G; 5668A; 5738C>T; 5745A>G; 5750G>C;
6354T>C; 6361C>A; gene conversion in 3'-UTR; 6960_6961insGAAAAG; 7160A>G
|
|
N418D; E419D
|
|
|
Mwenifumbo et al., 2008
|
|
CYP2A6*29
|
|
Submission terminated
|
|
|
|
|
|
|
|
CYP2A6*30
|
|
Submission terminated
|
|
|
|
|
|
|
|
CYP2A6*31A
|
CYP2A6.31
|
16A>C
|
-1289G>A; -1013A>G;
-492_-470delCCCCTTCCTGAGACCCTTAACCC
insAATCCATATGTGGAATCTG; 16A>C; 51G; 1339C>G;
1620T>C; 2721G>A; 2994T>C; 3255A>G; 3315C>T; 5668A;
6692C>G; 7160A>G; 7568C>T
|
|
M6L
|
|
|
Mwenifumbo et al., 2008
|
|
CYP2A6*31B
|
CYP2A6.31
|
16A>C;
201C>T
|
-1289G>A; -1013A>G;
-492_-470delCCCCTTCCTGAGACCCTTAACCC
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
|
|
|
Mwenifumbo et al., 2008
|
|
CYP2A6*32
|
|
Submission terminated
|
|
|
|
|
|
|
|
CYP2A6*33
|
|
Submission terminated
|
|
|
|
|
|
|
|
CYP2A6*34
|
CYP2A6.34
|
Exons 1-4 of CYP2A7 origin; exons 5-9 of CYP2A6 origin (breakpoint
in intron 4)
|
|
M6L; V13A; K30R; Q53H; M54I; Y55C; N56D; L58I; I61F; R64C; V117A; R128L;
S131A; A153S; D158E; L160I; G162S; G164H; K194E; R203S; M204V
|
|
|
Iulio
et al., 2009
|
|
CYP2A6*35A
|
CYP2A6.35
|
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
|
CYP2A6.35
|
22C>T; 1312A>T
|
-1301A>C; -1289G>A; -745A>G; 22C>T; 1620T>C;
4084delA; 6458A>T; gene
conversion in the 3 flanking region; 6782C>G; 6835C>A; 6999T>C;
7160A>G
|
|
N438Y
|
Decr.
|
Decr.
|
Koudsi
et al., 2009
|
|
CYP2A6*36
|
CYP2A6.36
|
22C>T; 1312A>T;
1412T>C
|
-1301A>C; -1289G>A; -745A>G; 22C>T; 1620T>C;
4084delA; 6458A>T; 6558T>C; gene
conversion in the 3 flanking region; 6782C>G; 6835C>A; 6999T>C;
7160A>G
|
|
N438Y;
I471T
|
|
|
Koudsi
et al., 2009
|
|
CYP2A6*37
|
CYP2A6.37
|
22C>T; 1312A>T;
1412T>C;
1454G>T
|
-1301A>C; -1289G>A; -745A>G; 22C>T; 1620T>C;
4084delA; 6354T>C; 6458A>T; 6558T>C; 6600G>T; gene
conversion in the 3 flanking region; 6782C>G; 6835C>A;
6936_6937insCACTT; 6961_6962insGAAAAG; 6989A>G; 6999T>C; 7160A>G
|
|
N438Y;
I471T;
R485L
|
|
|
Koudsi
et al., 2009
|
|
CYP2A6*38
|
CYP2A6.38
|
1051T>C
|
5023A>G
|
|
Y351H
|
|
|
Bloom et al., 2011
|
|
CYP2A6*39
|
CYP2A6.39
|
171C>A; 202G>A;
459G>A; 1224C>T
|
171C>A; 468G>A;
1779G>A; 5717C>T
|
|
V68M
|
Decr. expr./Decr. activity per pmol
|
|
Piliguan et al.,
2014
|
|
CYP2A6*40
|
CYP2A6.40
|
144G>A; 447C>G; 771C>T; 1237C>T
|
144G>A; 1767C>G; 3492C>T; 5738C>T
|
|
I149M
|
Decr. expr./Decr. activity per pmol
|
|
Piliguian et al.,
2014
|
|
CYP2A6*41
|
CYP2A6.41
|
51G>A; 241C>T; 794G>A
|
51G>A; 507C>T; 3515G>A
|
|
R265Q
|
None
|
Decr.
|
Piliguian et al.,
2014
|
|
CYP2A6*42
|
CYP2A6.42
|
51G>A; 803T>C; 1191T>C
|
51G>A; 3524T>C; 5684T>C
|
|
I268T
|
Decr. expr./Incr. activity per pmol
|
|
Piliguian et al.,
2014
|
|
CYP2A6*43
|
CYP2A6.43
|
908C>T
|
4406C>T
|
|
T303I
|
Decr.
expr./Unchanged activity per pmol
|
|
Piliguian et al.,
2014
|
|
CYP2A6*44
|
CYP2A6.44
|
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 pmol
|
|
Piliguian et al.,
2014
|
|
CYP2A6*45
|
CYP2A6.45
|
51G>A; 956G>A; 1385T>C
|
51G>A; 4464G>A; 6531T>C
|
|
L462P
|
Decr. expr./Decr. activity per pmol
|
|
Piliguian et al.,
2014
|
|
Additional
SNPs, present in characterized haplotypes
|
|
|
|
|
-1890C>T;
-1643C>T;
-1569T>C; -1162G>A;
-745A>G; 144G>A; 3492C>T; 3570C>G; 4932C>T; 5684T>C;
5738C>T; 5823C>T; 5843G>C
|
|
|
|
|
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
|
|
|
|
|
237G>A;
388C>G; 413T>G; 618delG; 3332G>A; 4350G>A; 4636A>C;
5142C>T; 5437C>T; 5521A>T; 5525G>C; 5545G>C; 5573A>C;
5684T>C; 5717C>T; 6361C>A; 6389C>G; 6681A>G; 6685C>T;
6688A>G; 6690A>G; 6696C>T; 6698T>C; 6699insC; 6703delG;
6706G>A; 6710C>G; 6712A>G; 6713G>T; 6714C>A; 6720C>A;
6726C>G; 6729G>A; 6734G>C; 6735C>G
|
|
|
|
|
Solus et al.,
2004
|
|
|
|
|
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
|
|
|
|
|
-1126C>A; 467C>T;
557G>A; 578A>G; 1710C>T; 2035G>T; 2039T>C; 2158T>C;
2274G>C; 3315C>T; 4193G>C; 4561G>A; 5162C>T; 5636A>C;
5660C>T; 5732C>T; 6586T>C
|
|
|
|
|
Haberl et al., 2005
|