N-acetyltranferase 2 (NAT2); 8p22
|
|
|
|
|
|
X14672.1
/912
|
cagatccgggctgttccctttgagaaccttaacatgcattgtgggcaagccatggagttgggcttagaggctatttttgatcacattgtaagaagaaacc(G/A)gggtgggtggtgtctccaggtcaatcaacttctgtactgggctctgaccacaatcggttttcagaccacaatgttaggagggtatttttacatccctcc
|
191G>A
R64Q
|
0-0.016 Ca
|
Coding sequence (no introns for NAT2)
|
NAT2*14A, NAT2*14C, NAT2*14D, NAT2*14E, NAT2*14F, NAT2*14G
|
Decreased activity
Less stable protein
NAT2*14A=0.006, NAT2*14C=0.008, NAT2*14D=0.001, NAT2*14E=0.000, NAT2*14F=0.001, NAT2*14G=n/a
|
X14672.1
/1003
|
gaagaaaccggggtgggtggtgtctccaggtcaatcaacttctgtactgggctctgaccacaatcggttttcagaccacaatgttaggagggtattttta(C/T)atccctccagttaacaaatacagcactggcatggttcaccttctcctgcaggtgaccattgacggcaggaattacattgtcgatgctgggtctggaagc
|
282C>T
Y94
|
0.286 Ca
|
Coding sequence (no introns for NAT2)
|
NAT2*13, NAT2*6A, NAT2*6C, NAT2*7B, NAT2*12B, NAT2*14B, NAT2*14D, NAT2*14G
|
NAT2*13=0.019, lower activity, Decreased activity for NAT2*6 NAT2*6A=0.243, NAT2*6C=0.003, Decreased activity for NAT2*7 NAT2*7B=0.0185, NAT2*12B=0.002, Decreased activity
Less stable protein
NAT2*14B=0.00, NAT2*14D=0.001, NAT2*14G=n/a
|
X14672.1
/1062
|
caatcggttttcagaccacaatgttaggagggtatttttaCatccctccagttaacaaatacagcactggcatggttcaccttctcctgcaggtgacca(T/C)tgacggcaggaattacattgtcgatgctgggtctggaagctcctcccagatgtggcagcctctagaattaatttctgggaaggatcagcctcaggtgcct
|
341T>C
I114T
|
0.438 Ca
|
Coding sequence (no introns for NAT2)
|
NAT2*5D,
NAT2*5A, NAT2*5B,
NAT2*5C, NAT2*5E, NAT2*5F, NAT2*14C, NAT2*14F
|
- Decreased activity for NAT2*5 NAT2*5D=0.003, NAT2*5A=0.015, NAT2*5B=0.394, NAT2*5C=0.008, NAT2*5E=0.00, NAT2*5F=0.009, - Decreased activity
Less stable protein for NAT2*14
NAT2*14C=0.008, NAT2*14F=0.001
|
X14672.1
/1311
|
tcaggagagagcagtatattacaaacaaagaatttcttaattctcatctcctgccaaagaagaaacaccaaaaaatatacttatttacgcttgaacctc(G/A)aacaattgaagattttgagtctatgaatacatacctgcagacgtctccaacatcttcatttataaccacatcattttgttccttgcagaccccagaaggg
|
590G>A
R197Q
|
0.264 Ca
|
Coding sequence (no introns for NAT2)
|
NAT2*5E, NAT2*6A, NAT2*6B, NAT2*6C, NAT2*6D, NAT2*14D
|
- Decreased activity for NAT2*6 (NAT2*6A=0.236, NAT2*6B=0.02, NAT2*6C=0.003, NAT2*6D=n/a): increased expression level but higher instability of the protein
- Decreased activity, Less stable protein for NAT2*14D, NAT2*14D=0.001
NAT2*5E=0.00
|
X14672.1
/1524
|
tgggcttcatcctcacctatagaaaattcaattataaagacaatacagatctggtcgagtttaaaactctcactgaggaagaggttgaagaagtgctga(A/G)aaatatatttaagatttccttggggagaaatctcgtgcccaAacctggtgatggatcccttactatttagaataaggaacaaaataaacccttgtgtatg
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803A>G
L268R
|
0.448 Ca
|
Coding sequence (no introns for NAT2)
|
NAT2*5B, NAT2*5C, NAT2*5F, NAT2*12A, NAT2*12B, NAT2*12C, NAT2*14C, NAT2*14E, NAT2*14F, NAT2*14G
|
Increased activity for NAT2*12 allele
NAT2*12A=0.025, NAT2*12B=0.002, NAT2*12C=0.001, Decreased activity for NAT2*5 NAT2*5B=0.394, NAT2*5C=0.008, NAT2*5F=0.009, Decreased activity
Less stable protein for NAT2*14 NAT2*14C=0.008, NAT2*14E=0.00, NAT2*14F=0.001, NAT2*14G=n/a
|
X14672.1
/1578
|
tcgagtttaaaactctcactgaggaagaggttgaagaagtgctgaaaaatatatttaagatttccttggggagaaatctcgtgcccaaacctggtgatg(G/A)atcccttactatttagaataaggaacaaaataaacccttgtgtatgtatcacccaactcactaattatcaacttatgtgctatcagatatcctctctacc
|
857G>A
G286E
|
0.02-0.03 Ca
0.12-0.18 As
|
Coding sequence (no introns for NAT2)
|
NAT2*7A, NAT2*7B
|
Decreased activity
NAT2*7A=0.009, NAT2*7B=0.025
|
X14672.1
/1155
|
tgaccattgacggcaggaattacattgtcgatgctgggtctggaagctcctcccagatgtggcagcctctagaattaatttctgggaaggatcagcctc(A/C)ggtgccttgcattttctgcttgacagaagagagaggaatctggtacCtggaccaaatcaggagagagcagtatattacaaacaaagaatttcttaattct
|
434A>C
Q145P
|
0.004
|
Coding sequence (no introns for NAT2)
|
NAT2*17
|
Decreased activity
|
X14672.1
/1566
|
atacagatctggtcgagtttaaaactctcactgaggaagaggttgaagaagtgctgaaaaatatatttaagatttccttggggagaaatctcgtgccca(A/C)acctggtgatgGatcccttactatttagaataaggaacaaaataaacccttgtgtatgtatcacccaactcactaattatcaacttatgtgctatcagat
|
845A>C
L282T
|
0.004
|
Coding sequence (no introns for NAT2)
|
NAT2*18
|
Decreased activity
Less stable
|
X14672.1
/1201
|
ctcctcccagatgtggcagcctctagaattaatttctgggaaggatcagcctcaggtgccttgcattttctgcttgacagaagagagaggaatctggtac(C/T)tggaccaaatcaggagagagcagtatattacaaacaaagaatttcttaattctcatctcctgccaaagaagaaacaccaaaaaatatacttatttacgc
|
481C>T
L161L
|
0.427 Ca
|
Coding sequence (no introns for NAT2)
|
NAT2*5A,
NAT2*5B, NAT2*5F, NAT2*12C, NAT2*14C
|
NAT2*5: decreased activity and protein is less expressed
NAT2*5A=0.015,
NAT2*5B=0.394, NAT2*5F=0.009, Increased activity for NAT2*12 allele NAT2*12C=0.001, Decreased activity
Less stable protein for NAT2*14 NAT2*14C=0.008
|
X14672.1
/1480
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atcattttgttccttgcagaccccagaaggggtttactgtttggtgggcttcatcctcacctatagaaaattcaattataaagacaatacagatctggt(C/T)gagtttaaaactctcactgaggaagaggttgaagaagtgctgaaaaatatatttaagatttccttggggagaaatctcgtgcccaaacctggtgatggat
|
759C>T
V253V
|
0.009
|
Coding sequence (no introns for NAT2)
|
NAT2*5F
|
Decreased activity
|
X14672.1
/832
|
agcatattttgaaagaattggctataagaactctaggaacaaattggacttggaaacattaactgacattcttgagcaccagatccgggctgttccctt(T/C)gagaaccttaacatgcattgtgggcaagccatggagttgggcttagaggctatttttgatcacattgtaagaagaaaccggggtgggtggtgtctccag
|
111T>C
F37F
|
n/a
|
Coding sequence (no introns for NAT2)
|
NAT2*6D
|
Decreased activity and protein stability (more expressed but more instable)
|
X14672.1
/911
|
cagatccgggctgttcccttTgagaaccttaacatgcattgtgggcaagccatggagttgggcttagaggctatttttgatcacattgtaagaagaaac(C/T)Ggggtgggtggtgtctccaggtcaatcaacttctgtactgggctctgaccacaatcggttttcagaccacaatgttaggagggtatttttacatccctcc
|
190C>T
R64W
|
n/a
|
Coding sequence (no introns for NAT2)
|
NAT2*19
|
n/a
|
NAD(P)H dehydrogenase, quinone 1 (NQO1); 6q22.1
|
|
|
|
|
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M81600.1
/191
|
Gaattggttgacttacctctctgtgctttctgtatcctcagagtggcattctgcatttctgtggcttccaagtcttagaa(C/T)ctcaactgacatatagcattgggcacactccagcagacgcccgaattcaaatcctggaaggatggaagaaacgcctgga
|
P187S
|
0.13 Ca
|
Exon 6
|
|
No activity
|
AC012321.5
/135583
|
Atctcaaacaaacaaacaaacaaacacccctgcatcaggacagaccacccagaagctggctgtcagagcattcagaaccatccacctacccg(G/A)aagggtcctttgtcatacatggcagcgtaagtgtaagcaaactctcctatgaacactcgctcaaaccagcctttcagaatggcagggactccaaacc
|
R139W
|
0.05 Ca
|
Exon 4
|
|
Decreased activity
(-60%)
|
N-methylpurine-DNA glycosilase (MPG); 16p13.3
|
|
|
|
|
|
|
Z69720.1
/8603
|
gctagagcagggcagccacacagctcgtccgacgcagcccaggcacctgcagagcagccacacagctcgtccgatgcagcccaggcaccttgccccagggag(C/T)gctgcttgggaccgcccaccactccgggcccataccgcagcatctatttctcaagcccaaagggccaccttacccgactggggttggagttcttcgaccagccggca
|
8603C>T
R59C
|
n/a
|
Exon 2
|
|
Decreased activity
|
O-6-methylguanine-DNA methyltransferase (MGMT); 10q26
|
|
|
|
|
|
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X61657.1
/1034
|
gcgcgctctcttgcttttctcaggtcctcggctccgccccgctctagaccccgccccacgccgccatccccgtgcccctcggccccgcccccgcgccccggat(A/G)tgctgggacagcccgcgcccctagaacgctttgcgtcccgacgcccgcaggtcctcgcggtgcgcaccgtttgcgacttggtgagtgtctgggtcgcctcgctccc
|
1034A>G
|
n/a
|
5’flanking region, upstream the 59bp enhancer
|
|
n/a
|
X61657.1
/1099
|
ccgccatccccgtgcccctcggccccgcccccgcgccccggatatgctgggacagcccgcgcccctagaacgctttgcgtcccgacgcccgcaggtcctcgcggtgcg(C/T)accgtttgcgacttggtgagtgtctgggtcgcctcgctcccggaagagtgcggagctc
|
1099C>T
|
n/a
|
It falls into the 59bp enhancer in the promoter region
|
|
n/a
|
U95038.1
/79
|
ggaagagtgcggagctctccctcgggacggtggcagcctcgagtggtcctgcaggcgccctcacttcgccgtcgggtg(G/T)ggggccgccctgacccccacccatcccgggcgagctccaggtgcgccccaagtgcctcccaggtgttgcccagcctttccccgggcctggggttcctggac
|
79G>T
|
n/a
|
Intron 1
|
|
In promotor
Destroys an inverted repeat sequence, which contains 2 PuFbinding sequences separated by Sp1 site
|
AL 157832.11
/168356
|
tggaggcagggcccagaggtttactaagcccctgttctcacttttgcagtgccgtggaggtcccagcccccgctgcggttct(C/T)ggaggtccggagcccctgatgcagtgcacagcctggctgaatgcctatttccaccagcccgaggctatcgaagagtt
|
171C>T
L53L
|
0.162 As
|
Exon 3
|
VI
|
Normal activity and expression
|
AL 157832.11
/168265
|
gatgcagtgcacagcctggctgaatgcctatttccaccagcccgaggctatcgaagagttccccgtgccggct(C/T)ttcaccatcccgttttccagcaaggtcggtaactaagccatctgcggtgtttcctttggggagcttgacttattaa
|
262C>T
L84F
|
0.162 As
|
Exon 3
|
VI
|
Normal activity and expression
|
AL 157832.11
/109484
|
gcctgcccctggcacaggcccctgcttggtgggcacaggactcctgtcagtcagggccttggccttgaccccaaagacctcgttgtccagatccctgactgacagtggctgcccccctgtcttccaggtccccatcctc(A/G)tcccgtgccacagagtggtctgcagcagcggagccgtgggcaactactccggaggactggccgtgaaggaatggcttctggcccatgaaggccaccggtt
|
427A>G
I143V
|
n/a
|
n/a
|
|
n/a
|
AL 157832.11
/109378
|
tgccacagagtggtctgcagcagcggagccgtgggcaactactccggaggactggccgtgaaggaatggcttctggcccatgaaggccaccggttgggga(A/G)gccaggcttgggagggagctcaggtctggcaggggcctggctcaagggagcgggagctacctcgggctccccgcctgctggccgaaactgagtatgtgca
|
533A>G
K178R
|
n/a
|
3’UTR
|
|
n/a
|
AL 157832.11
/168320
|
cctgttctcacttttgcagtgccgtggaggtcccagcccccgctgcggttctcggaggtccggagcccctgatgcagtgcacagcctg(G/C)ctgaatgcctatttccaccagcccgaggctatcgaagagttccccgtgccggctcttcaccatcccgttttccagcaaggt
|
207G>C
W65C
|
0.002 Ca
|
Exon 3
|
V2
|
Protein is rare and instable in vitro
|
AL 157832.11
/107106
|
Ctgcccccctgtcttccaggtccccatcctcatcccgtgccacagagtggtctgcagcagcggagccgtgggcaactactcc(G/A)gaggactggccgtgaaggaatggcttctggcccatgaaggccaccggttggggaagccaggcttgggagggagctcaggtctggcag
|
G160R
MroI
|
0.075 As
|
Exon 5
|
|
No effect in vitro
|
8-oxoguanine DNA glycosilase (hOGG1); 3p26.2
|
|
|
|
|
|
|
AF176815.1
/42565
|
catcgtactctagcctccactcctgccctgtgggcctccatcccgtgccctcgctctgagctgcgcctggacctggttctgccttctggacaatctttcc(G/A)gtgagtgactgagcctgagaagcctgtcccctcggactggctcctgccgcctcaacactgcctggcatggggtacaaaggaatttgggggatgatggaa
|
R46Q
m3
MspI
|
0.01 Ca
0 As
|
Exon 1
|
|
Reduced
8-oxoG repair
|
AF176815.1
/43202
|
tcctgcacactggagtggtgtactagcggatcaagtatggacactgactcagactgaggagcagctccactgcactgtgtaccgaggagacaagagccag(G/T)ctagcaggcccacaccagacgagctggaggccgtgcgcaagtacttccagctagatgttaccctggctcaactgtatcaccactggggttccgtggact
|
A85S
m4
NheI
|
0.01-0.02 Ca
|
Exon 2
|
|
n/a
|
AF176815.1
/43918
|
tggagttttggtacctaggatctgacctgtgggtgggaagaggccacacccaacagcaggtacctctcctaccccctgcatttctggtctccaggtgtgc(G/A)actgctgcgacaagaccccatcgaatgccttttctcttttatctgttcctccaacaacaacatcgcccgcatcactggcatggtggagcggctgtgcca
|
R131Q
m5
HinfI
|
0-0.02 Ca
|
Exon 2
|
|
No activity
|
AF176815.1
/49231
|
acactgtcactagtctcaccagccctgaccccagtgtaccctcctccccacacagactccaccctcctacaggtgctgttcagtgccgacctgcgccaat(C/G)ccgccatgctcaggagccaccagcaaagcgcagaaagggttccaaagggccggaaggctagatggggcaccctggacaaagaaattccccaagcacctt
|
S326C
m6
Fnu4HI
|
0.22 Ca
|
Exon 7
|
|
Reduced
8-oxoG repair
|
AF176815.1
/42406
|
taaacagcaccgtgtgggcgaggccttaagggtcgtggtccttgtctgggcggggtctttgggcgtcgacgaggcctggttctgggtaggcggggctact(A/G)cggggcggtgcctgctgtggaaatgcctgcccgcgcgcttctgcccaggcgcatggggcatcgtactctagcctccactcctgccctgtgggcctccatc
|
Allele 2
|
0.05 As
|
Promoter
|
|
n/a
|
AF176815.1
/42411
|
taaacagcaccgtgtgggcgaggccttaagggtcgtggtccttgtctgggcggggtctttgggcgtcgacgaggcctggttctgggtaggcggggctactacggg(G/T)cggtgcctgctgtggaaatgcctgcccgcgcgcttctgcccaggcgcatggggcatcgtactctagcctccactcctgccctgtgggcctccatc
|
Allele 3
|
0.028 As
|
Promoter
|
|
n/a
|
Proliferating cell nuclear antigen (PCNA); 20pter-p12
|
|
|
|
|
|
|
J04718.1
/1661
|
ctctttggtgcagctcaccctgcggtctgagggcttcgacacctaccgctgcgaccgcaacctggccatgggcgtgaacctcaccaggtgagcctcgcgc(C/G)ccgggaagccgccccggcccgcctgcacctccggctgtggcgagcgcttcgagcctagccctcattggctggcgtgggcatccagagcttctcattggc
|
1661C>G
|
0.088 Ca
|
Intron 1
|
Haplotype 1
|
n/a
|
J04718.1
/1684
|
ggtctgagggcttcgacacctaccgctgcgaccgcaacctggccatgggcgtgaacctcaccaggtgagcctcgcgccccgggaagccgccccggcccgc(C/A)tgcacctccggctgtggcgagcgcttcgagcctagccctcattggctggcgtgggcatccagagcttctcattggcctgcacgcagtggtggggcccaa
|
1684C>A
|
0.088 Ca
|
Intron 1
|
Haplotype 1
|
n/a
|
J04718.1
/1876
|
ggcccaagctgagatgagcggttacggaaaagcccgcgctggctgctgcgcgaacctgctttttcgcgccaaagtcacaaagcgggtggtggcgggaaa(A/G)tcaagggtttttccgcagtgccaggaacactgttccagggactctttgctcactaaacctgttggccttgaatggacgctttagctgtggctttcttgtt
|
1876A>G
|
0.088 Ca
|
Intron 1
|
Haplotype 1
|
This SNP falls
into a regulation element (E2F-like site) in intron 1.
|
J04718.1
/2232
|
tttctatccagaagggacactgctggtggtattttagtataaatactgccagatgcgtccaaaacgtctgcattaataatggcatcctccagcagtccg(T/C)ttaccctccaccagttctgagacggcctgacgggtgagagtggtaaccccttctaaccgcgttcgaaatacagcccttcagcagacggcgttgattttaa
|
2232T>C
|
0.088 Ca
|
Intron 1
|
Haplotype 1
|
n/a
|
J04718.1
/2352
|
agacggcctgacgggtgagagtggtaaccccttctaaccgcgttcgaaatacagcccttcagcagacggcgttgattttaaagcatgtgtctcctgtctt(C/T)tagtatgtccaaaatactaaaatgcgccggcaatgaagatatcattacactaagggccgaagataacgcggataccttggcgctagtatttgaagcacc
|
2352C>T
|
0.088 Ca
|
Intron 1
|
Haplotype 1
|
n/a
|
J04718.1
/3890
|
attataatactgcttattaggttaattgctaaaattaaaagtagacagaattggatcccaagtaatttctgaaaattgagatactgttgaaatctgtga(A/C)tgatttataagtgtcatccaatttagaattatatttgcaagaagggaatacaaattcagcacgtgtacataccacagcaacagtggtttatggatcaagt
|
3890A>C
|
0.088 Ca
|
Intron 4
|
Haplotype 1
|
n/a
|
J04718.1
/3801
|
gaaacattaaattgtcacagacaagtaatgtcgataaagaggaggaagctgtaagtagtttttaagtaaaaagaaaatagtttgaagagaattataatac(T/C)gcttattaggttaattgctaaaattaaaagtagacagaattggatcccaagtaatttctgaaaattgagatactgttgaaatctgtgaatgatttataa
|
3801T>C
|
0.016 Ca
|
Intron 4
|
|
n/a
|
J04718.1
/3663
|
agtacagctgtgtagtaaagatgccttctggtgaatttgcacgtatatgccgagatctcagccatattggagatgctgttgtaatttcctgtgcaaaaga(C/T)ggagtgaaattttctgcaagtggagaacttggaaatggaaacattaaattgtcacagacaagtaatgtcgataaagaggaggaagctgtaagtagtttt
|
3663C>T
D165D
|
0.0088 Ca
|
Exon 4
|
|
n/a
|
J04718.1
/5755
|
aaccagttcaactaacttttgcactgaggtacctgaacttctttacaaaagccactccactctcttcaacggtgacactcagtatgtctgcagatgtacc(C/G)cttggtaagataataaatttgaaccttgttttgatggtagtcatatgtgatacatactcctcagtaattaaccatcttcctgtctttcagttgtagagt
|
5755C>G
P234P
|
0.0088 Ca
|
Exon 5
|
|
n/a
|
|
|
