AF253322.1
/34203
|
gccattacaaccctgccaatctcaagcacctgcctctacaggtacctttcttgggaccaatttacaatctctgggatccccaactatagaacctggaagctagtggggacagaaagacggggagcctgggctaggtgtagggg(T/G)cctgagttccgggctttgctacccagctcttgacttctgtttcccgattttaaatgagcagtttggactaagccatttttaaggagagcgatgggg
|
-740T>G
|
0.0817 As
< 0.0817 Ca
|
Intron 1
|
CYP1A2*1E
|
n/a
|
AF253322.1
/34779
|
ccagaagtggaaactgagatgatgtgtggaggagagagccagcgttcatgttgggaatcttgaggctcctttccagctctcagattctgtgatgctcaaagggtgagctctgtgggc(C/A)caggacgcatggtagatggagcttagtctttctggtatccagctgggagccaagcacagaacacgcatcagtgtttatcaaatgactgaggaaatgaatgaatgaatgtctccatctca
|
-164C>A
|
0.6132 As
> 0.6132 Ca
|
Intron 1
|
CYP1A2*1F
|
Increased activity and inducibility
|
AF253322.1
/35004
|
accctcagcctggtccctccttttttccctgcagttggtacagatggcattgtcccagtctgttcccttctcggccacagagcttctcctggcctctgccatctt(C/G)tgcctggtattctgggtgctcaagggtttgaggcctcgggtccccaaaggcctgaaaagtccaccagagccatggggctggcccttgctcgggcatgtgctgaccctggggaagaacccgcacctggcactgtc
| 63C>G
F21L
|
0.0061 As
0 Ca
|
Exon 2
|
CYP1A2*2
|
n/a
|
AF253322.1
/40288
|
gcaactggagttcagcgtgccgccgggcgtgaaagtcgacctgacccccatctacgggctgaccatgaagcacgcccgctgtgaacatgtccaggcgcggctgcgcttctccatcaa(T/C)tgaagaagacaccaccattctgaggccagggagcgagtgggggccagccacggggactcagcccttgtttctcttcctttctttttttaaaaaaatagcagctttagccaagtgcagggc
| 1545T>C
N516N
|
0.26-0.35 Ca
|
Exon 7
|
CYP1A2*1B
CYP1A2*1G
CYP1A2*1H
CYP1A2*3
|
Normal activity
|
AF253322.1
/40031
|
tcacacttgtgttctcaacagaagtctccctcccccaggcacctcctcccagggcctctccagccctgaggtcccatctcctctgttcctcttgcagagagctgtgggaggacccctctgagttccggcctgag(C/T)ggttcctcaccgccgatggcactgccattaacaagcccttgagtgagaagatgatgctgtttggcatgggcaagcgccggtgtatcggggaagtcctggccaagtgggagatcttcctcttcctggccatcctgctacagcaactggagttcagcgtgccgccg
|
1291C>T
R431W
|
0.005 Ca
|
Exon 7
|
CYP1A2*6
|
n/a
|
AF253322.1
/38438
|
Tggatggggtggaggtaggagcaacacatgccccagctttccagccctgagcctcacagtgccctcttccctcctcagcacaacaagggacacaacgctgaatggcttctacatccccaagaaatgct(G/A)tgtcttcgtaaaccagtggcaggtcaaccatgacccgtgagtacatacccctcacgaaaaaatgtgtgcaggttcagcagtcaggaaggctgtttgtccctgctaggaactgtttatataatgaaaggagggacctcaatgctata
|
1217G>A
C406Y
|
0.005 Ca
|
Exon 6
|
CYP1A2*5
|
n/a
|
AF253322.1
/37440
|
tctgtgttctacagacactgtgattggcagggagcggcggccccggctctctgacagaccccagctgccctacttggaggccttcatcctggagaccttccgacactcctccttcttgcccttcacc(A/T)tcccccacaggtgaggcctgccggttctgccctcccacctctaaagtgcttgccatgttttctcttcctggcttctcagccctggccctggctcagcatctccttcccgacctcgttccccacagatcccggcctcagtctgcccccatccagtccaaacataatctaacccc
|
1156A>T
I386F
|
0.005 Ca
|
Exon 5
|
CYP1A2*4
|
n/a
|
AF253322.1
/37057
|
atacatacatagcagatacttgggaaatgatggtttccttgtttctgtcttccttctttcctcaccttacactacacggttcaggatttgacacagtcaccacagccatctcctggagcctcatgtaccttgtgaccaagcctgagatacagaggaagatccagaaggagctg(G/A)gtacatgggggcccccaaccctatagccaggagaagccttgaaacccaggttgtttgttcagtctacaaacacctgttatgtgcctgctgtgtgcaagccctgggcacacagtagtgcctgcccttgcctagaagatgtgggaggttagtggggtcgcagacttgtgaatagacagtcttacataa
|
1042G>A
D348N
|
0.01 Ca
|
Exon 4
|
CYP1A2*3
|
n/a
|
AF253322.1
/36511
|
Gttcagcctttgaccttggaagtgccagagtgcccctaagcttctgccccctcagaacagtgtccgggacatcacgggtgccctgttcaagcacagcaagaaggggcctagagccagcggcaacctcatcccacaggagaagattgtcaaccttgtcaatgacatctttggagc(A/C)ggtaggaaccagaaccttgcccctccatccacatgcctgctgttcacccacagccttgcccagcccctcagtccatgaaataacccaccaaccctacatcagatggtacacatactgagatctgg
|
951A>C
A317A
|
0.005 Ca
|
Exon 3
|
CYP1A2*1H
|
n/a
|
Cytochrome P450, subfamily I, polypeptide 1 (CYP1B1); 2p22-p21
|
|
|
|
|
|
|
U56438.1
/3947
|
gctaaacccgctgtccatccagcagaccacgctcctgctactcctgtcggtgctggccactgtgcatgtgggccagcggctgctgaggcaacggaggcggcagctc(C/G)ggtccgcgcccccgggcccgtttgcgtggccactgatcggaaacgcggcggcggtgggccaggcggctcacctctcgttcgctcgcctggcgcggcgctacggcgacgttttccagatccgcctgggcagctg
|
142C>G
R48G
|
0.09 Ca
|
Exon 2
|
CYP1B1*2
|
Higher catalytic efficiency
|
U56438.1
/3793
|
Agagtgggttggggatgggaaggggcgtcttcggccatttctccagagagtcagctccgacctctccacccaacggcactcagtccccagaggctggggtaggggcgtggggcgcccgctcctgtctctgcacccctgagtgtcacgccttctcct(C/T)tctgtccccagcatgggcaccagcctcagcccgaacgacccttggccgctaaacccgctgtccatccagcagaccacgctcctgctactcctgtcggtgctggccactgtgcatgtgggccagcggctgctgaggcaacggag
|
-13C>T
|
0.09 Ca
|
5’ UTR
|
n/a
|
n/a
|
U56438.1
/4160
|
ctcgttcgctcgcctggcgcggcgctacggcgacgttttccagatccgcctgggcagctgccccatagtggtgctgaatggcgagcgcgccatccaccaggccctggtgcagcagggctcggccttcgccgaccggccg(G/T)ccttcgcctccttccgtgtggtgtccggcggccgcagcatggctttcggccactactcggagcactggaaggtgcagcggcgcgcagcccacagcatgat
|
355G>T
A119S
|
0.09 Ca
|
Exon 2
|
CYP1B1*2
|
Higher catalytic efficiency
|
U56438.1
/8131
|
tattcctcatgccaccactgccaacacctctgtcttgggctaccacattcccaaggacactgtggtttttgtcaaccagtggtctgtgaatcatgaccca(G/C)tgaagtggcctaacccggagaactttgatccagctcgattcttggacaaggacggcctcatcaacaaggacctgaccagcagagtgatgattttttcagtgggcaaaaggcggtgcattggcgaagaactttctaagat
|
4326C>G
V432L
|
0.54 Ca
|
Exon 3
|
CYP1B1*3
|
Higher catalytic efficiency
|
U56438.1
/8184
|
gtcaaccagtggtctgtgaatcatgacccactgaagtggcctaacccggagaactttgatccagctcgattcttggacaagga(C/G)ggcctcatcaacaaggacctgaccagcagagtgatgattttttcagtgggcaaaaggcggtgcattggcgaagaactttctaagatgcagctttttctcttcatctccatcctggctcaccagtgcgatttcagggccaacccaaatgagcctgcgaaaatgaatttcagttatggtctaaccattaaacccaagtcatttaaagtcaatgtcact
|
D449D
|
0.51 Ca
|
Exon 3
|
n/a
|
n/a
|
U56438.1
/8195
|
gtcaaccagtggtctgtgaatcatgacccactgaagtggcctaacccggagaactttgatccagctcgattcttggacaaggacggcctcatca(A/G)caaggacctgaccagcagagtgatgattttttcagtgggcaaaaggcggtgcattggcgaagaactttctaagatgcagctttttctcttcatctccatcctggctcaccagtgcgatttcagggccaacccaaatgagcctgcgaaaatgaatttcagttatggtctaaccattaaacccaagtcatttaaagtcaatgtcact
|
4390A>G
N453S
|
0.07 Ca
|
Exon 3
|
CYP1B1*4
|
Higher catalytic efficiency
|
Cytochrome P450, subfamily IIA, polypeptide 6 (CYP2A6); 19q13.2
|
|
|
|
|
|
|
U22027.1
/2177
|
ctgatcgactaggcgtggtattcagcaacggggagcgcgccaagcagctcctgcgctttgccatcgccaccctg(C/A)gggacttcggggtgggcaagcgaggcatcgaggagcgcatccaggaggagtcgggcttcctcatcgaggccatccggagcacgcacggtgagcaggggaccccgagtgcgggggcaggagaaggaaaacacccaggac
|
R136R
v2
CYP2A6/A7 hybrid
DdeI
|
0.10 Ca
0.007 As
|
Exon 3
|
CYP2A6*3
|
No activity in vivo and in vitro
|
AC008537.5
/71707
|
Agaattccaggaggcagggccttgttgagccaaattcccagcgccagactccagggctggaagtgcgggcgcctttccccacctagtccccatccccaggcagaacgcgcgcgggttcctcgtcctgggtgttttccttctcctgcccccgcactcggggtcccctgctcaccgccagtgccccgg(A/T)gggcgtcgatgaggaagcccgcctcctcctggatgcgctcctcgatgcctcgcttgcccaccccgaagtcccgcagggtggcgatggagaagcgccggagctgcttggcgcgctccccgttgctgaataccacgcctggggaggtgaacgcgggaatggagacaggccagggggcggcaggggcaggagcggagcagctccaaggggctcccc
|
L160H
v1
XcmI
T479A
|
0.10-0.23 Ca
0.07 As
|
Exon 3
|
CYP2A6*2
|
No activity in vivo and in vitro
|
AC008537.5
|
LOCUS DELETION
|
CYP2A6del
| -
Ca
0.15 As
|
|
CYP2A6*4
|
No activity
|
NG_000008.2
/66924
|
Gccgcttctgtttcttctcttccctctagccaccacgccccttcctttccgccatcctgcccccagtcttagctgcgcccctctcccaagcccggtcttggccctgccctttccctggccccgcccaccagacctgcaccggcacagccctcgctcagcggggcaggaagctcatggtgtagtttcgtgggatcgtggcaaag(C/A)ccacgtgtttgggggacacgtcaatgtccttaggtgactgggaggacttgaggcggaagttctgcatgacggtggtgaagaagagaaagagctccattctggccaggccttctccgaaacagttccgctttcctgaggaggagaggcgggaggggtggaggtgaagcccactctcagtgcagcctcgccccagtac
|
1436G>T
G479V
|
0.00 Ca
0.01 As
|
Exon 9
|
CYP2A6*5
|
Lack of 7-hydroxylation activity in vitro and in vivo
|
NG_000008.2
/71803
|
Acctagtccccatccccaggcagaacgcgcgcgggttcctcgtcctgggtgttttccttctcctgcccccgcactcggggtcccctgctcaccgccagtgccccggagggcgtcgatgaggaagcccgcctcctcctggatgcgctcctcgatgcctcgcttgcccaccccgaagtcccgcagggtggcgatggagaagcgc(C/T)ggagctgcttggcgcgctccccgttgctgaataccacgcctggggaggtgaacgcgggaatggagacaggccagggggcggcaggggcaggagcggagcagctccaaggggctccccaagggtggaggagagagggagtagggtgggagagagatggattcagcgccattgcccagcagagctgcaaactcagtcag
|
383G>A
R128Q
|
0.002 As
|
Exon 3
|
CYP2A6*6
|
Decrease of coumarin 7-hydroxylase activity in vitro
|
NG_000008.2
/66948
|
Gccgcttctgtttcttctcttccctctagccaccacgccccttcctttccgccatcctgcccccagtcttagctgcgcccctctcccaagcccggtcttggccctgccctttccctggccccgcccaccagacctgcaccggcacagccctcgctcagcggggcaggaagctcatggtgtagtttcgtgggatcgtggcaaagcccacgtgtttgggggacacgtca(A/G)tgtccttaggtgactgggaggacttgaggcggaagttctgcatgacggtggtgaagaagagaaagagctccattctggccaggccttctccgaaacagttccgctttcctgaggaggagaggcgggaggggtggaggtgaagcccactctcagtgcagcctcgccccagtac
|
1412T>C
I471T
|
0.157 As
|
Exon 9
|
CYP2A6*7
|
Lack of nictine C-oxidase activity in vitro
|
NG_000008.2
/66906
|
Gccgcttctgtttcttctcttccctctagccaccacgccccttcctttccgccatcctgcccccagtcttagctgcgcccctctcccaagcccggtcttggccctgccctttccctggccccgcccaccagacctgcaccggcacagccctcgctcagcggggcaggaagctcatggtgtagttt(C/A)gtgggatcgtggcaaagcccacgtgtttgggggacacgtcaatgtccttaggtgactgggaggacttgaggcggaagttctgcatgacggtggtgaagaagagaaagagctccattctggccaggccttctccgaaacagttccgctttcctgaggaggagaggcgggaggggtggaggtgaagcccactctcagtgcagcctcgccccagtac
|
1454G>T
R485L
|
0.023 As
|
Exon 9
|
CYP2A6*8
|
n/a
|
NG_000008.2
/71780
|
Acctagtccccatccccaggcagaacgcgcgcgggttcctcgtcctgggtgttttccttctcctgcccccgcactcggggtcccctgctcaccgccagtgccccggagggcgtcgatgaggaagcccgcctcctcctggatgcgctcctcgatgcctcgcttgcccaccccgaagtccc(G/T)cagggtggcgatggagaagcgccggagctgcttggcgcgctccccgttgctgaataccacgcctggggaggtgaacgcgggaatggagacaggccagggggcggcaggggcaggagcggagcagctccaaggggctccccaagggtggaggagagagggagtagggtgggagagagatggattcagcgccattgcccagcagagctgcaaactcagtcag
|
406C>A
R136R
|
0.001 As
|
Exon 3
|
n/a
|
n/a
|
NG_000008.2
/66829
|
aatgtaagggtttccttcctctcatcccagctcggaagcaccttatcaaggtgaactgagccgcttctgtttcttctcttccctctagccaccacgccccttcctttcccgcatcttccccccattcttatacccgcctcttccgcgaaccccgccctgaccccgcc(delC)tttccctggccccgcccaccagacctgcaccggcacagccctcgctcagcggggcaggaagctcatggtgtagtttcgtgggatcgtggcaaagcccacgtgtttgggggacacgtcaatgtccttaggtgactgggaggacttgaggcggaagttctgcatgacggtggtgaagaagagaaagagctccattctggccaggccttctccg
|
CYP2A6/CYP2A7 conversion in 3’
|
0.30 Ca
0.406 As
|
3’flanking region
|
CYP2A6*1B
|
n/a
|
NG_000008.2
/66755
|
Tgtggcaattaggtgagcgtgcaatggtttttgaacaaaggtgacacgggggtacgtgctcaggaaataagagctgctattattactactcttcatagcataatgtaagggtttccttcctctcatcccagctcggaagcaccttatcaaggtgaactgagccgcttctgtttcttctcttccctctagccacc(delA)cgccccttcctttcccgcatcttccccccattcttatacccgcctcttccgcgaaccccgccctgaccccgcctttccctggccccgcccaccagacctgcaccggcacagccctcgctcagcggggcaggaagctcatggtgtagtttcgtgggatcgtggcaaagcccacgtgtttgggggacacgtcaatgtccttaggtga
|
CYP2A6/CYP2A7 conversion in 3’
|
0.30 Ca
0.406 As
|
3’flanking region
|
CYP2A6*1B
|
n/a
|
NG_000008.2
/73553
|
gacaccttcatgagggagttgtacatctgctctgtgttcagctgcaggtagtttccaatgaagggcaatggggtgggtcccggaggcagcttccccttgctcttcctctgctgccaaacagacatcaagaccatcacagtcaggcagaccagcaaggccaccagaagcatccctgaggccagcatggtggtagtgggatgatagatggtgacggctggggtggtttgccttt(A/C)tactgcctgaaaaagagggatggactttggctgattacataattacctcatttcacctcccaactacatgccccaccatgaatcctgcctagcttgggacacagccagcaagggaggataaggggaccccagggcagctgaacagagagggggcctccagactaaatctgtggtacttcaggagggg
|
-48T>G
|
0.05-0.7 Ca
0.157 As
|
Promoter
(TATA-box)
|
CYP2A6*9
|
Decreased enzyme activity in vitro
|
Cytochrome P450, subfamily IIC, polypeptide 9 (CYP2C9); 10q24
|
|
|
|
|
|
|
AL359672.17
/60682
|
ggaattgttttcagcaatggaaagaaatggaaggagatccggcgtttctccctcatgacgctgcggaattttgggatggggaagaggagcattgaggac(C/T)gtgttcaagaggaagcccgctgccttgtggaggagttgagaaaaaccaagggtgggtgaccctactccatatcactgaccttactggactactatcttctctactgacat
|
416C>T
R430C
|
0.10 Ca
|
Exon 3
|
CYP2C9*2
|
Decreased activity
(-88%)
|
AL359672.17
/43401
|
gagattgaacgtgtgattggcagaaaccggagcccctgcatgcaagacaggagccacatgccctacacagatgctgtggtgcacgaggtccagagatac(A/C)ttgaccttctccccaccagcctgccccatgcagtgacctgtgacattaaattcagaaactatctcattcccaaggtaagtttgtttctcctacactgcaa
|
1075A>C
I359L
|
0.047 Ca
|
Exon 7
|
CYP2C9*3
|
Decreased activity
(-95%)
High Km
|
AL359672.17
/43402
|
gagattgaacgtgtgattggcagaaaccggagcccctgcatgcaagacaggagccacatgccctacacagatgctgtggtgcacgaggtccagagataca(T/C)tgaccttctccccaccagcctgccccatgcagtgacctgtgacattaaattcagaaactatctcattcccaaggtaagtttgtttctcctacactgcaa
|
1076T>C
I359T
|
0-0.08 As
|
Exon 7
|
CYP2C9*4
|
Decreased activity
Low Vmax
|
Cytochrome P450, subfamily IIC, polypeptide 19 (CYP2C19); 10q24.1-q24.3
|
|
|
|
|
|
|
NT_008769.5
/242837
|
attacaaccagagcttggcatattgtatctatacctttattaaatgcttttaatttaataaattattgttttctcttagatatgcaataattttcccactatcattgattatttccc(G/A)ggaacccataacaaattacttaaaaaccttgcttttatggaaagtgata
|
681G>A
m1
|
0.13 Ca
0.30 As
|
Exon 5
|
CYP2C19*2A
CYP2C19*2B
|
Splicing defect,
no activity
|
NT_008769.5
/244043
|
gctccattattttccagaaacgtttcgattataaagatcagcaatttcttaacttgatggaaaaattgaatgaaaacatcaggattgtaagcaccccctg(G/A)atccaggtaaggccaagttttttgcttcctgagaaaccacttacagtctttttttctgggaaatccaaaattctatattgaccaagccctgaagt
|
636G>A
m2
|
0.003 Ca
0.05 As
|
Exon 4
|
CYP2C19*3
|
No activity because the creation of a stop codon
|
NT_008769.5
/261789
|
tcatccatcaaagaggcacacacacttaattagcatggagtgttataaaaagcttggagtgcaagctcacggttgtcttaacaagaggagaaggcttca(A/G)tggatccttttgtggtccttgtgctctgtctctcatgtttgcttctcctttcaatctggagacagagctctgggagaggaaaactccctcctggcccca
|
A1G
m3
|
0.006 Ca
0.004 As
|
Exon 1
|
CYP2C19*4
|
No expression in vitro and in vivo
|
NT_008769.5
/171958
|
gagcagccagaccatctgtgcttcttcagacaggaatgaagcacagctgatagaagggcgggacagaagcaaatccattgacaacaggagttgtgtcaaggtcctttgggtcaatcagagatttcaggttaaagttctgtaaaatgaaggtcaggaataaaaacagctccatgcgggccaggccctctcccacacaaatcc(G/A)ttttcctgaaaataacaaacatagggagaagttactcctcatgtgtaactgtgagagtgacaaacactgtctctataactggcacagacagaatatgc
|
1297C>T
R433W
m4
|
0.009 Ca
|
Exon 9
|
CYP2C19*5
|
Lack of protein activity n vivo and in vitro
|
NT_008769.5
/249243
|
ggaatcgttttcagcaatggaaagagatggaaggagatccggcgtttctccctcatgacgctgc(G/A)gaattttgggatggggaagaggagcattgaggaccgtgttcaagaggaagcccgctgccttgtggaggagttgagaaaaaccaagg
|
395G>A
m5
R132Q
|
0.009 Ca
|
Exon 3
|
CYP2C19*6
|
Lack of protein activity n vivo and in vitro
|
NT_008769.5
/242697
|
aaaccttgcttttatggaaagtgatattttggagaaagtaaaagaacaccaagaatcgatggacatcaacaaccctcgggactttattgattgcttcctgatcaaaatggagaagg(T/A)aaAatgttaacaaaagcttagttatgtgactgcttgcgtatttgtgattcattgactagttttgtgtttactacggatgtttaacaggtcaaggagtaat
|
IVS5
|
0.011 Ca
|
Exon 5
|
CYP2C19*7
|
Change in the intron donor site of intron 5
|
NT_008769.5
/82478
|
gaggatggaaaacagagacttacagagctcctcgggcagagcttggcccatccacatggctgcccagtgtcagcttcctctttcttgcctgggatctccctcctagtttcgtttctcttcctgttaggaattgttttcagcaatggaaagaaa(T/C)ggaaggagatccggcgtctctccctcatgacgctgcggaattttgggatggggaagaggagcattgaggaccgtgttcaagaggaagcccgctgccttgtggaggagttgagaaaaaccaagggtgggtgaccctactccatatcactgaccttactggactactatcttctctactgacattcttggaaacatttcaggggtggccatatctttcattatgagtcctg
|
358T>C
W120R
|
0.011 Ca
|
Exon 3
|
CYP2C19*8
|
Lack of protein
activity n vivo
and decreased in vitro
|
Cytochrome P450, subfamily IID polypeptide 6 (CYP2D6)22q13.1
|
|
|
|
|
|
|
M33388/
1638
|
agtgtcctgcctggtcctctgtgcctggtggggtgggggtgccaggtgtgtccagaggagcccatttggtagtgaggcaggtatggggctagaagcactg(G/A)tgcccctggccgtgatagtggccatcttcctgctcctggtggacctgatgcaccggcgccaacgctgggctgcacgctacccaccaggccccctgccact
|
V7M
19G>A
|
0.004 Ca
|
Exon 1
|
CYP2D6*28
|
n/a
|
M33388/
1650
|
ggtcctctgtgcctggtggggtgggggtgccaggtgtgtccagaggagcccatttggtagtgaggcaggtatggggctagaagcactggtgcccctggcc(G/A)tgatagtggccatcttcctgctcctggtggacctgatgcaccggcgccaacgctgggctgcacgctacccaccaggccccctgccactgcccgggctgGg
|
31G>A
V11M
|
0.067 Ca
|
Exon 1
|
CYP2D6*35
|
n/a
|
M33388/
1696
|
agcccatttggtagtgaggcaggtatggggctagaagcactggtgcccctggccgtgatagtggccatcttcctgctcctggtggacctgatgcaccggc(G/A)ccaacgctgggctgcacgctacccaccaggccccctgccactgcccgggctgGgcaacctgctgcatgtggacttccagaacacaccatactgcttcgac
|
77G>A
R26H
|
0.001 Ca
|
Exon 1
|
CYP2D6*21
|
n/a
|
M33388/
1701
|
atttggtagtgaggcaggtatggggctagaagcactggtgcccctggccgtgatagtggccatcttcctgctcctggtggacctgatgcaccggcgccaa(C/T)gctgggctgcacgctacccaccaggccccctgccactgcccgggctgGgcaacctgctgcatgtggacttccagaacacaccatactgcttcgaccaggt
|
82C>T
R28C
|
0.002 Ca
|
Exon 1
|
CYP2D6*22
|
n/a
|
M33388/
1719
|
tatggggctagaagcactggtgcccctggccgtgatagtggccatcttcctgctcctggtggacctgatgcaccggcgccaacgctgggctgcacgctac(C/T)caccaggccccctgccactgcccgggctgGgcaacctgctgcatgtggacttccagaacacaccatactgcttcgaccaggtgagggaggaggtcctgga
|
100C>T
P34S
|
0.184 Ca
|
Exon 1
|
CYP2D6*4A, CYP2D6*4B, CYP2D6*4C, CYP2D6*4D, CYP2D6*4E, CYP2D6*4F, CYP2D6*4G, CYP2D6*4H, CYP2D6*4J, CYP2D6*4K, CYP2D6*4L, CYP2D6*10A, CYP2D6*10B, CYP2D6*14, CYP2D6*37
|
Either:
Splicing defect and no activity
(CYP2D6*4= 0.156);
decreased activity (CYP2D6*10=0.014);
no activity
(CYP2D6*14=rare);
n/a
(CYP2D6*37=rare)
|
M33388/
1743
|
cctggccgtgatagtggccatcttcctgctcctggtggacctgatgcaccggcgccaacgctgggctgcacgctacccaccaggccccctgccactgccc(G/A)ggctgGgcaacctgctgcatgtggacttccagaacacaccatactgcttcgaccaggtgagggaggaggtcctggagggcggcagaggtgctgaggctcc
|
124G>A
G42R
|
0.001 Ca
|
Exon 1
|
CYP2D6*12
|
No activity
|
M33388/
2502
|
ctcctggtagccccgggggtcgtccaaggttcaaataggactaggacctgtagtctggggtgatcctggcttgacaagaggccctgaccctccctctgca(G/C)ttgcggcgccgcttcggggacgtgttcagcctgcagctggcctggacgccggtggtcgtgctcaatgggctggcggccgtgcgcgaggcgctggtgaccc
|
883G>C
CYP2D6F
|
0.001 Ca
|
Intron 1
|
CYP2D6*11
|
No activity
|
M33388/
2576
|
caagaggccctgaccctccctctgcagttgcggcgccgcttcggggacgtgttcagcctgcagctggcctggacgccggtggtcgtgctcaatgggctgg(C/T)ggccgtgcgcgaggcgctggtgacccacggcgaggacaccgccgaccgcccgcctgtgcccatcacccagatcctgggtttcgggccgcgttcccaaggc
|
957C>T
A85V
M3
|
0.001 Ca
|
Exon 2
|
CYP2D6*23
|
n/a
|
M33388/
2593
|
ccctctgcagttgcggcgccgcttcggggacgtgttcagcctgcagctggcctggacgccggtggtcgtgctcaatgggctggcggccgtgcgcgaggcg(C/A)tggtgacccacggcgaggacaccgccgaccgcccgcctgtgcccatcacccagatcctgggtttcgggccgcgttcccaaggcaagcagcggtggggaca
|
974C>A
L91M
|
0.158 Ca
|
Exon 2
|
CYP2D6*4A, CYP2D6*4B, CYP2D6*4F, CYP2D6*4G, CYP2D6*4H, CYP2D6*4J
|
Splicing defect and no activity (CYP2D6*4)
|
M33388/
2603
|
ttgcggcgccgcttcggggacgtgttcagcctgcagctggcctggacgccggtggtcgtgctcaatgggctggcggccgtgcgcgaggcgctggtgaccc(A/G)cggcgaggacaccgccgaccgcccgcctgtgcccatcacccagatcctgggtttcgggccgcgttcccaaggcaagcagcggtggggacagagacagatt
|
984A>G
H94R
|
0.158 Ca
|
Exon 2
|
CYP2D6*4A, CYP2D6*4B, CYP2D6*4F, CYP2D6*4G, CYP2D6*4H, CYP2D6*4J
|
Splicing defect and no activity (CYP2D6*4)
|
M33388/
2616
|
tcggggacgtgttcagcctgcagctggcctggacgccggtggtcgtgctcaatgggctggcggccgtgcgcgaggcgctggtgacccacggcgaggacac(C/G)gccgaccgcccgcctgtgcccatcacccagatcctgggtttcgggccgcgttcccaaggcaagcagcggtggggacagagacagatttccgtgggacccg
|
997C>G
T98T
|
0.159 Ca
|
Exon 2
|
CYP2D6*2E, CYP2D6*4A, CYP2D6*4B, CYP2D6*4F, CYP2D6*4G, CYP2D6*4H, CYP2D6*4J, CYP2D6*4L
|
Either:
Splicing defect,
no activity (CYP2D6*4=0.156);
n/a (CYP2D6*2E=rare)
|
M33388/
2642
|
gcctggacgccggtggtcgtgctcaatgggctggcggccgtgcgcgaggcgctggtgacccacggcgaggacaccgccgaccgcccgcctgtgcccatca(C/T)ccagatcctgggtttcgggccgcgttcccaaggcaagcagcggtggggacagagacagatttccgtgggacccgggtgggtgatgaccgtagtccgagct
|
1023C>T
T107I
CYP2D6Z
|
0.001 Ca
|
Exon 2
|
CYP2D6*17
|
Decreased
|
M33388/
2658
|
tcgtgctcaatgggctggcggccgtgcgcgaggcgctggtgacccacggcgaggacaccgccgaccgcccgcctgtgcccatcacccagatcctgggttt(C/T)gggccgcgttcccaaggcaagcagcggtggggacagagacagatttccgtgggacccgggtgggtgatgaccgtagtccgagctgggcagagagggcgcg
|
F112F
1039C>T
|
0.025 Ca
|
Exon 2
|
CYP2D6*2C, CYP2D6*4D, CYP2D6*10B, CYP2D6*36, CYP2D6*37
|
Either:
no activity (CYP2D6*4D=0.01);
decreased (CYP2D6*36, CYP2D6*10B=0.01);
normal (CYP2D6*2C=rare, CYP2D6*37=rare)
|
M33388/
3280
|
gctaatgccttcatggccacgcgcacgtgcccgtcccacccccaggggtgttcctggcgcgctatgggcccgcgtggcgcgagcagaggcgcttctccgt(G/C)tccaccttgcgcaacttgggcctgggcaagaagtcgctggagcagtgggtgaccgaggaggccgcctgcctttgtgccgccttcgccaaccactccggtg
|
1661G>C
V136V
|
0.526 Ca
|
Exon 3
|
CYP2D6*2A, CYP2D6*2B, CYP2D6*2C, CYP2D6*2E, CYP2D6*2F, CYP2D6*2G, CYP2D6*2H, CYP2D6*2J, CYP2D6*2K, CYP2D6*2XN, CYP2D6*4A, CYP2D6*4C, CYP2D6*4D, CYP2D6*4E, CYP2D6*4F, CYP2D6*4G, CYP2D6*4H, CYP2D6*4J, CYP2D6*4K, CYP2D6*4L, CYP2D6*8, CYP2D6*10A, CYP2D6*10B, CYP2D6*10C, CYP2D6*11, CYP2D6*12, CYP2D6*19, CYP2D6*20,
CYP2D6*28, CYP2D6*29, CYP2D6*30, CYP2D6*31, CYP2D6*32, CYP2D6*35, CYP2D6*35X2 CYP2D6*36, CYP2D6*37, CYP2D6*39
|
Either:
normal
(CYP2D6*2+
CYP2D6*35=0.32);
splicing defect,
no activity (CYP2D6*4=0.16);
decreased (CYP2D6*10=0.014,
CYP2D6*36=rare);
no activity (CYP2D6*11+ CYP2D6*12+
CYP2D6*19+
CYP2D6*20<0.02);
n/a
(CYP2D6*28+
CYP2D6*29+
CYP2D6*30+
CYP2D6*31+
CYP2D6*32+
CYP2D6*37+
CYP2D6*39<0.02);
increased
(CYP2D6*35X2 rare)
|
M33388/
3278
|
gggctaatgccttcatggccacgcgcacgtgcccgtcccacccccaggggtgttcctggcgcgctatgggcccgcgtggcgcgagcagaggcgcttctcc(G/A)tgtccaccttgcgcaacttgggcctgggcaagaagtcgctggagcagtgggtgaccgaggaggccgcctgcctttgtgccgccttcgccaaccactccgg
|
1659G>A
V136M
M13
|
0.001 Ca
|
Exon 3
|
CYP2D6*29
|
n/a
|
M33388/
3323
|
aggggtgttcctggcgcgctatgggcccgcgtggcgcgagcagaggcgcttctccgtgtccaccttgcgcaacttgggcctgggcaagaagtcgctggag(C/G)agtgggtgaccgaggaggccgcctgcctttgtgccgccttcgccaaccactccggtgggtgatgggcagaagggcacaaagcgggaactgggaaggcggg
|
1704C>G
Q151E
M11
|
0.003 Ca
|
Exon 3
|
CYP2D6*28
|
n/a
|
M33388/
3326
|
ggtgttcctggcgcgctatgggcccgcgtggcgcgagcagaggcgcttctccgtgtccaccttgcgcaacttgggcctgggcaagaagtcgctggagcag(Tdel)gggtgaccgaggaggccgcctgcctttgtgccgccttcgccaaccactccggtgggtgatgggcagaagggcacaaagcgggaactgggaaggcggggga
|
1707T(del)
CYP2D6T
|
0.012 Ca
|
Exon 3
|
CYP2D6*6A, CYP2D6*6B, CYP2D6*6C, CYP2D6*6D
|
Frameshift,
no activity
|
M33388/
3343
|
atgggcccgcgtggcgcgagcagaggcgcttctccgtgtccaccttgcgcaacttgggcctgggcaagaagtcgctggagcagtgggtgaccgaggaggc(C/T)gcctgcctttgtgccgccttcgccaaccactccggtgggtgatgggcagaagggcacaaagcgggaactgggaaggcgggggacggggaaggcgacccct
|
1724C>T
M14
|
0.001 Ca
|
Exon 3
|
CYP2D6*2F
|
n/a
|
M33388/
3368
|
gcgcttctccgtgtccaccttgcgcaacttgggcctgggcaagaagtcgctggagcagtgggtgaccgaggaggccgcctgcctttgtgccgccttcgcc(A/G)accactccggtgggtgatgggcagaagggcacaaagcgggaactgggaaggcgggggacggggaaggcgaccccttacccgcatctcccacccccaggac
|
1749A>G
N166D
|
0.001 Ca
|
Exon 3
|
CYP2D6*3B
|
Frameshift,
no activity
|
M33388/
3377
|
cgtgtccaccttgcgcaacttgggcctgggcaagaagtcgctggagcagtgggtgaccgaggaggccgcctgcctttgtgccgccttcgccaaccactcc(G/T)gtgggtgatgggcagaagggcacaaagcgggaactgggaaggcgggggacggggaaggcgaccccttacccgcatctcccacccccaggacgcccctttc
|
1758G>T
G169STOP
|
0.001 Ca
|
Exon 3
|
CYP2D6*8, CYP2D6*14
|
Non sense mutation,
no activity
|
M33388/
3465
|
gccaaccactccggtgggtgatgggcagaagggcacaaagcgggaactgggaaggcgggggacggggaaggcgaccccttacccgcatctcccaccccca(G/A)gacgcccctttcgccccaacggtctcttggacaaagccgtgagcaacgtgatcgcctccctcacctgcgggcgccgcttcgagtacgacgaccctcgctt
|
1846G>A
CYP2D6B
|
0.171 Ca
|
Intron 3
|
CYP2D6*4A, CYP2D6*4B, CYP2D6*4C, CYP2D6*4D, CYP2D6*4E, CYP2D6*4F, CYP2D6*4G, CYP2D6*4H, CYP2D6*4J, CYP2D6*4K, CYP2D6*4L
|
Splicing defect,
no activity
|
M33388/
3477
|
ggtgggtgatgggcagaagggcacaaagcgggaactgggaaggcgggggacggggaaggcgaccccttacccgcatctcccacccccaggacgccccttt(C/T)gccccaacggtctcttggacaaagccgtgagcaacgtgatcgcctccctcacctgcgggcgccgcttcgagtacgacgaccctcgcttcctcaggctgct
|
1858C>T
R173C
|
0.001 Ca
|
Exon 4
|
CYP2D6*4F
|
n/a
|
M33388/
3474
|
tccggtgggtgatgggcagaagggcacaaagcgggaactgggaaggcgggggacggggaaggcgaccccttacccgcatctcccacccccaggacgcccc(tttcgcccc)aacggtctcttggacaaagccgtgagcaacgtgatcgcctccctcacctgcgggcgccgcttcgagtacgacgaccctcgcttcctcaggctgctggacc
|
1863 ins 9bp rep
|
0.001 Ca
|
Exon 4
|
CYP2D6*30
|
n/a
|
M33388/
3562
|
ccaggacgcccctttcgccccaacggtctcttggacaaagccgtgagcaacgtgatcgcctccctcacctgcgggcgccgcttcgagtacgacgaccctc(G/A)cttcctcaggctgctggacctagctcaggagggactgaaggaggagtcgggctttctgcgcgaggtgcggagcgagagaccgaggagtctctgcagggcg
|
1943G>A
R201H
|
0.001 Ca
|
Exon 4
|
CYP2D6*37
|
n/a
|
M33388/
3595
|
gacaaagccgtgagcaacgtgatcgcctccctcacctgcgggcgccgcttcgagtacgacgaccctcgcttcctcaggctgctggacctagctcaggagg(G/A)actgaaggaggagtcgggctttctgcgcgaggtgcggagcgagagaccgaggagtctctgcagggcgagctcccgagaggtgccggggctggactggggc
|
1976G>A
G212E
|
0.009 Ca
|
Exon 4
|
CYP2D6*6B, CYP2D6*6C
|
Frameshift,
no activity
|
M33388/
3597
|
caaagccgtgagcaacgtgatcgcctccctcacctgcgggcgccgcttcgagtacgacgaccctcgcttcctcaggctgctggacctagctcaggaggga(C/T)tgaaggaggagtcgggctttctgcgcgaggtgcggagcgagagaccgaggagtctctgcagggcgagctcccgagaggtgccggggctggactggggcct
|
1978C>T
L213L
|
0.001 Ca
|
Exon 4
|
CYP2D6*1C, CYP2D6*20
|
Either:
normal (CYP2D6*1C=0.001)
no activity
(CYP2D6*20=rarer)
|
M33388/
4089
|
ctggggcctgagacttgtccaggtgaacgcagagcacaggagggattgagaccccgttctgtctggtgtaggtgctgaatgctgtccccgtcctcctgca(T/C)atcccagcgctggctggcaaggtcctacgcttccaaaaggctttcctgacccagctggatgagctgctaactgagcacaggatgacctgggacccagccc
|
2470T>C
H232H
|
0.009 Ca
|
Exon 5
|
CYP2D6*2C, CYP2D6*2G
|
normal
|
M33388/
4099
|
agacttgtccaggtgaacgcagagcacaggagggattgagaccccgttctgtctggtgtaggtgctgaatgctgtccccgtcctcctgcatatcccagcg(C/T)tggctggcaaggtcctacgcttccaaaaggctttcctgacccagctggatgagctgctaactgagcacaggatgacctgggacccagcccagcccccccg
|
2480C>T
L236L
M17
|
0.001 Ca
|
Exon 5
|
CYP2D6*2H
|
normal
|
M33388/
4102
|
cttgtccaggtgaacgcagagcacaggagggattgagaccccgttctgtctggtgtaggtgctgaatgctgtccccgtcctcctgcatatcccagcgctg(G/T)ctggcaaggtcctacgcttccaaaaggctttcctgacccagctggatgagctgctaactgagcacaggatgacctgggacccagcccagcccccccgaga
|
2843G>T
A237S
(old name CYP2D6*1C)
|
0.006 Ca
|
Exon 5
|
CYP2D6*33
|
normal
|
M33388/
4158
|
aggtgctgaatgctgtccccgtcctcctgcatatcccagcgctggctggcaaggtcctacgcttccaaaaggctttcctgacccagctggatgagctgct(AACTdel)gagcacaggatgacctgggacccagcccagcccccccgagacctgactgaggccttcctggcagagatggagaaggtgagagtggctgccacggtggggg
|
2539-delAACT
|
0.001 Ca
|
Exon 5
|
CYP2D6*19
|
Frameshift,
no activity
|
M33388/
4168
|
tgctgtccccgtcctcctgcatatcccagcgctggctggcaaggtcctacgcttccaaaaggctttcctgacccagctggatgagctgctaactgagcac(Adel)ggatgacctgggacccagcccagcccccccgagacctgactgaggccttcctggcagagatggagaaggtgagagtggctgccacggtggggggcaaggg
|
2549(Adel)
(old name CYP2D6A)
|
0.017 Ca
|
Exon 5
|
CYP2D6*3A, CYP2D6*3B
|
Frameshift,
no activity
|
M33388/
4194
|
cagcgctggctggcaaggtcctacgcttccaaaaggctttcctgacccagctggatgagctgctaactgagcacaggatgacctgggacccagcccagcc(C/A)ccccgagacctgactgaggccttcctggcagagatggagaaggtgagagtggctgccacggtggggggcaagggtggtgggttgagcgtcccaggaggaa
|
2575C>A
P268P
|
0.004 Ca
|
Exon 5
|
CYP2D6*1D (M5), CYP2D6*2G
|
Normal
|
M33388/
4232
|
ttcctgacccagctggatgagctgctaactgagcacaggatgacctgggacccagcccagcccccccgagacctgactgaggccttcctggcagagatgg(AGAdel)aggtgagagtggctgccacggtggggggcaagggtggtgggttgagcgtcccaggaggaatgaggggaggctgggcaaaaggttggaccagtgcatcacc
|
2613(AGA del)
CYP2D6C
|
0.027 Ca
|
Exon 5
|
CYP2D6*9
|
Decreased
|
M33388/
4472
|
gtcatttgggggctaccccgttctgtcccgagtatgctctcggccctgctcaggccaaggggaaccctgagagcagcttcaatgatgagaacctgcgc(A/C)tagtggtggctgacctgttctctgccgggatggtgaccacctcgaccacgctggcctggggcctcctgctcatgatcctacatccggatgtgcagcgtga
|
2853A>C
I297L
M6
|
0.001 Ca
|
Exon 6
|
CYP2D6*24
|
n/a
|
M33388/
4554
|
aatgatgagaacctgcgcatagtggtggctgacctgttctctgccgggatggtgaccacctcgaccacgctggcctggggcctcctgctcatgatcctac(A/C)tccggatgtgcagcgtgagcccatctgggaaacagtgcaggggccgagggaggaagggtacaggcgggggcccatgaactttgctgggacacccggggct
|
2935A>C
H324P
(old name CYP2D6E)
|
0.001 Ca
|
Exon 6
|
CYP2D6*7
|
No activity
|
M33388/
4557
|
gatgagaacctgcgcatagtggtggctgacctgttctctgccgggatggtgaccacctcgaccacgctggcctggggcctcctgctcatgatcctacatc(C/T)ggatgtgcagcgtgagcccatctgggaaacagtgcaggggccgagggaggaagggtacaggcgggggcccatgaactttgctgggacacccggggctcca
|
2938C>T
P325L
|
0.001 Ca
|
Exon 6
|
CYP2D6*4G
|
Splicing defect,
no activity
|
M33388/
4558
|
atgagaacctgcgcatagtggtggctgacctgttctctgccgggatggtgaccacctcgaccacgctggcctggggcctcctgctcatgatcctacatcc(G/A)gatgtgcagcgtgagcccatctgggaaacagtgcaggggccgagggaggaagggtacaggcgggggcccatgaactttgctgggacacccggggctccaa
|
2939G>A
P325P
M18
|
0.002 Ca
|
Exon 6
|
CYP2D6*2J
|
Normal
|
M33388/
4469
|
tggaggtcatttgggggctaccccgttctgtcccgagtatgctctcggccctgctcaggccaaggggaaccctgagagcagcttcaatgatgagaacctg(C/T)gcatagtggtggctgacctgttctctgccgggatggtgaccacctcgaccacgctggcctggggcctcctgctcatgatcctacatccggatgtgcagcg
|
2850C>T
R296C
|
0.343 Ca
|
Exon 6
|
CYP2D6*2A, CYP2D6*2B, CYP2D6*2C, CYP2D6*2D, CYP2D6*2E, CYP2D6*2F, CYP2D6*2G, CYP2D6*2H, CYP2D6*2J, CYP2D6*2K, CYP2D6*2XN CYP2D6*4K, CYP2D6*8, CYP2D6*11, CYP2D6*12, CYP2D6*14, CYP2D6*17, CYP2D6*19, CYP2D6*20, CYP2D6*28, CYP2D6*29, CYP2D6*30, CYP2D6*31, CYP2D6*32, CYP2D6*34, CYP2D6*35, CYP2D6*35X2
|
Either:
normal
(CYP2D6*2+
CYP2D6*35=0.32);
increased (CYP2D6*2XN+
CYP2D6*35X2=rare);
no activity (CYP2D6*4K+
CYP2D6*8+
CYP2D6*11+
CYP2D6*12+
CYP2D6*14+
CYP2D6*19+
CYP2D6*20<0.02);
decreased (CYP2D6*17=0.001);
n/a
(CYP2D6*28+ CYP2D6*29+ CYP2D6*30+ CYP2D6*31+ CYP2D6*32+ CYP2D6*34<0.01)
|
M33388/
4802
|
ataggaggcaagaaggagtgtcagggccggaccccctgggtgctgacccattgtggggacgcatgtctgtccaggccgtgtccaacaggagatcgacgac(G/A)tgatagggcaggtgcggcgaccagagatgggtgaccaggctcacatgccctacaccactgccgtgattcatgaggtgcagcgctttggggacatcgtccc
|
3183G>A
V338M
M13
|
0.001 Ca
|
Exon 7
|
CYP2D6*29
|
n/a
|
M33388/
4817
|
gagtgtcagggccggaccccctgggtgctgacccattgtggggacgcatgtctgtccaggccgtgtccaacaggagatcgacgacgtgatagggcaggtg(C/G)ggcgaccagagatgggtgaccaggctcacatgccctacaccactgccgtgattcatgaggtgcagcgctttggggacatcgtccccctgggtgtgaccca
|
3198C>G
R343G
M7
|
0.001 Ca
|
Exon 7
|
CYP2D6*25
|
n/a
|
M33388/
4896
|
gacgacgtgatagggcaggtgcggcgaccagagatgggtgaccaggctcacatgccctacaccactgccgtgattcatgaggtgcagcgctttggggaca(T/C)cgtccccctgggtgtgacccatatgacatcccgtgacatcgaagtacagggcttccgcatccctaaggtaggcctggcgccctcctcaccccagctcagc
|
3277T>C
I369T
M8
|
0.001 Ca
|
Exon 7
|
CYP2D6*26
|
n/a
|
M33388/
4907
|
agggcaggtgcggcgaccagagatgggtgaccaggctcacatgccctacaccactgccgtgattcatgaggtgcagcgctttggggacatcgtccccctg(G/A)gtgtgacccatatgacatcccgtgacatcgaagtacagggcttccgcatccctaaggtaggcctggcgccctcctcaccccagctcagcaccagcacctg
|
3288G>A
G373S
|
0.001 Ca
|
Exon 7
|
CYP2D6*6D
|
Framseshift,
no activity
|
M33388/
5472
|
catcctagagtccagtccccactctcaccctgcatctcctgcccagggaacgacactcatcaccaacctgtcatcggtgctgaaggatgaggccgtctgg(G/A)agaagcccttccgcttccaccccgaacacttcctggatgcccagggccactttgtgaagccggaggccttcctgcctttctcagcaggtgcctgtgggga
|
3853G>A
E8K
|
0.003 Ca
|
Exon 8
|
CYP2D6*27, CYP2D6*32
|
n/a
|
M33388/
5496
|
tcaccctgcatctcctgcccagggaacgacactcatcaccaacctgtcatcggtgctgaaggatgaggccgtctgggagaagcccttccgcttccacccc(G/C)aacacttcctggatgcccagggccactttgtgaagccggaggccttcctgcctttctcagcaggtgcctgtggggagcccggctccctgtccccttccgt
|
3877G>C
E418Q
|
0.001 Ca
|
Exon 8
|
CYP2D6*4H
|
Splicing defect,
no activity
|
M33388/
5447
|
gtgtgtttggtggcaggggtcccagcatcctagagtccagtccccactctcaccctgcatctcctgcccagggaacgacactcatcaccaacctgtcatc(G/A)gtgctgaaggatgaggccgtctgggagaagcccttccgcttccaccccgaacacttcctggatgcccagggccactttgtgaagccggaggccttcctgc
|
3828G>A
S401S
|
0.012 Ca
|
Exon 8
|
CYP2D6*1B
|
Normal
|
M33388/
5661
|
tgcctgtggggagcccggctccctgtccccttccgtggagtcttgcaggggtatcacccaggagccaggctcactgacgcccctcccctccccacaggcc(G/A)ccgtgcatgcctcggggagcccctggcccgcatggagctcttcctcttcttcacctccctgctgcagcacttcagcttctcggtgcccactggacagccc
|
4042G>A
R440H
M20
|
0.001 Ca
|
Exon 9
|
CYP2D6*31
|
n/a
|
M33388/
5734
|
ctgacgcccctcccctccccacaggccgccgtgcatgcctcggggagcccctggcccgcatggagctcttcctcttcttcacctccctgctgcagcactt(C/T)agcttctcggtgcccactggacagccccggcccagccaccatggtgtctttgctttcctggtgagcccatccccctatgagctttgtgctgtgccccgct
|
4115C>T
F464F
M21
|
0.001 Ca
|
Exon 9
|
CYP2D6*2K
|
n/a
|
M33388/
5799
|
ctcttcctcttcttcacctccctgctgcagcacttcagcttctcggtgcccactggacagccccggcccagccaccatggtgtctttgctttcctggtga(G/C)cccatccccctatgagctttgtgctgtgccccgctagaatggggtacctagtccccagcctgctccctagccagaggctctaatgtacaataaagcaatg
|
4180G>C
S486T
|
0.529 Ca
|
Exon 9
|
CYP2D6 *2A (CYP2D6L), CYP2D6*2B, CYP2D6*2C, CYP2D6*2D, CYP2D6*2E, CYP2D6*2F, CYP2D6*2G, CYP2D6*2H, CYP2D6*2J, CYP2D6*2K, CYP2D6*2XN, CYP2D6*4A, CYP2D6*4B, CYP2D6*4C, CYP2D6*4D, CYP2D6*4E, CYP2D6*4F, CYP2D6*4G, CYP2D6*4H, CYP2D6*4K, CYP2D6*4L, CYP2D6*6C, CYP2D6*8, CYP2D6*10A, CYP2D6*10B, CYP2D6*11, CYP2D6*12, CYP2D6*14, CYP2D6*17, CYP2D6*19, CYP2D6*20, CYP2D6*28, CYP2D6*29, CYP2D6*30, CYP2D6*31, CYP2D6*32, CYP2D6*35, CYP2D6*35X2 CYP2D6*36, CYP2D6*37, CYP2D6*39
|
Either:
normal
(CYP2D6*2+ CYP2D6*35=0.32),
increased
(CYP2D6*2XN+ CYP2D6*35X2=rare),
decreased
(CYP2D6*10A+ CYP2D6*10B+ CYP2D6*17+ CYP2D6*36<0.02);
n/a
(CYP2D6*28+ CYP2D6*29+ CYP2D6*30+ CYP2D6*31+ CYP2D6*32+ CYP2D6*37+ CYP2D6*39<0.01);
no activity
(CYP2D6*4=0.17, CYP2D6*6C+ CYP2D6*8+ CYP2D6*11+ CYP2D6*12+ CYP2D6*14+ CYP2D6*19+ CYP2D6*20<0.01)
|
Cytochrome P450, subfamily IIE (CYP2E1); 10q24.3-qter
|
|
|
|
|
|
|
AL161645.12
/52172
|
tgccacacccagccaacagcagacgtgatggaagcctgaagaacaccctgc(cacgggcacaggcagaggcacaggcaccctgtcgtcctgattatttcaccttgtcacggg)rep1(cagaggcacaggcaccctgtcgtcctgattatttcaccttgt)rep5(cacaggcacaggcaccctgtcgtcctgattatttcaccttgt)rep6(cacaggcacaggcactctgtcgtcctgattatttcaccttgtcacggg)rep7(cagaggcacaggcactctgtcatcctgattatttcaccttgt)rep8cctagagtgtcctgccaatgggacagatgcaaaacaaataaaagccccggcttctgaaaagaagcac
|
5 repeats
|
n/a
|
5’-flanking region
|
CYP2E1*1A
|
wild-type
|
AL161645.12
/52172
|
tgccacacccagccaacagcagacgtgatggaagcctgaagaacaccctgc(cacgggcacaggcagaggcacaggcaccctgtcgtcctgattatttcaccttgtcacggg)rep1(cagaggcacaggcaccctgtcgtcctgattatttcaccttgtcacgga)rep2(cagaggcacaggcaccctgtcgtcctgattatttcaccttgt)rep5(cacaggcacaggcaccctgtcgtcctgattatttcaccttgt)rep6(cacaggcacaggcactctgtcgtcctgattatttcaccttgtcacggg)rep7(cagaggcacaggcactctgtcatcctgattatttcaccttgt)rep8cctagagtgtcctgccaatgggacagatgcaaaacaaataaaagccccggcttctgaaaagaagcac
|
6 repeats
|
n/a
|
5’-flanking region
|
CYP2E1*1C
|
n/a
|
AL161645.12
/52172
|
tgccacacccagccaacagcagacgtgatggaagcctgaagaacaccctgc(cacgggcacaggcagaggcacaggcaccctgtcgtcctgattatttcaccttgtcacggg)rep1(cagaggcacaggcaccctgtcgtcctgattatttcaccttgtcacgga)rep2(cagaggcacaggcaccctgtcgtcctgattatttcaccttgtcacggg)rep3(cagaggcacaggcaccctgtcgtcctgattatttcaccttgtcacgga)rep4(cagaggcacaggcaccctgtcgtcctgattatttcaccttgt)rep5(cacaggcacaggcaccctgtcgtcctgattatttcaccttgt)rep6(cacaggcacaggcactctgtcgtcctgattatttcaccttgtcacggg)rep7(cagaggcacaggcactctgtcatcctgattatttcaccttgt)rep8cctagagtgtcctgccaatgggacagatgcaaaacaaataaaagccccggcttctgaaaagaagcac
|
8 repeats
|
0.226 As
0.011 Ca
|
5’-flanking region
|
CYP2E1*1D
|
Increased activity after alcohol exposure.
|
AL161645.12
/39668
|
ctggggttaatcctgtgagaagattagggctttcatcttcatttagacctgacccctgactgctttctatctaatccttcactaagcaactccttcaact(C/G)gaaatatactatcctatatagcataatattcaaaacaacattcttcactgggggtttccagatgaaagcccacattttgttaacatgactcactgagac
|
9893C>G
TaqI
|
0.085 Ca
|
Intron 7
|
CYP2E1*1B
|
n/a
|
AL161645.12
/48771
|
gcacctcctcgccgcgcggcgggcctgacttctagccacgggtctccgcagttggcccagcgcttcgggccggtgttcacgctgtacgtgggctcgcagc(G/A)catggtggtgatgcacggctacaaggcggtgaaggaagcgctgctggactacaaggacgagttctcgggcagaggcgacctccccgcgttccatgcgca
|
1132G>A
R76H
|
0.013 As
0 Ca
|
Exon 2
|
CYP2E1*2
|
Reduced
|
AL161645.12
/39541
|
caacattcttcactgggggtttccagatgaaagcccacattttgttaacatgactcactgagacagtctttgtttctcctagggcacagtc(G/A)tagtgccaactctggactctgttttgtatgacaaccaagaatttcctgatccagaaaagtttaagccagaacacttcctgaatgaaaatggaaagttcaagtacagtg
|
10023G>A
V389I
|
0 As
0-0.012 Ca
|
Exon 8
|
CYP2E1*3
|
Normal
|
AL161645.12
/45130
|
ggaggagtctcctcacccccatcttctggttgccctgactgcctgttttgtaggccagcctttcgaccccaccttcctcatcggctgcgcgccctgcaac(G/A)tcatagccgacatcctcttccgcaagcattttgactacaatgatgagaagtttctaaggctgatgtatttgtttaatgagaacttccacctactcagcactccctggct
|
4768G>A
V179I
|
0.013 Ca
|
Exon 4
|
CYP2E1*4
|
Normal
|
AL161645.12
/51200
|
cattgtcagttctcacctcgaggggtgccaaaaaccagagggaagcaaaggcccctgaagcctctgccagaggccaacgccccttcttggttcaggagag(G/C)tgcagtgttaggtgcagcacaaccaatgacttgcttatgtggctaataaattgtcaagagaaaaactgggttagaatgcaatatatagtatgtagtctc
| |
