Glutathione-S-transferase alpha (GSTA4); 6p12
|
|
|
|
|
|
AL121969.12
/102579
|
ttggttgctctgtgtatgtaggcatctctgccacctaccttttcaaacacaggaaagtatctaattatagccttctgggccatgttaaccacttccttttg(C/T)tgatcatctggttttaagaaaggatgcatgataagcagttccagcagatccagtgtcccctccacgtacatgtcaatccttaaaacaaaaaagcagttg
|
Q117Q
|
n/a
|
Exon 5
|
|
n/a
|
AL121969.12
/96035
|
ttgaaccgtgcaaatgtattctatatttgaaaaaaactaattaaaaaattctcacaacaagacaatgagcaatgactcataaattctttattttggctaa(C/T)actgattgcattcattactaccattttatttattacagctcagaggagagtcatttactagacattcggttgttattaaacactaaaaattaggcagaga
|
668C>T
|
n/a
|
3’ UTR
|
|
n/a
|
Glutathione S-transferase M1 (GSTM1); 1p13.3
|
|
|
|
|
|
|
AC000032.1
|
LOCUS DELETION
|
GSTM1-“null”
|
0.72 Ca, As
|
|
GSTM1*0
|
No activity
|
AC000032.7
/23466
|
aaagagaaaggaggatgggggcatcacctcaaagcgggagatgaagtccttcagatttgggaaggcgtccaagca(C/G)ttgggctcaaatatacggtggaggtcaaggacatcatagacgagaaaatctacaaaagtgatctgcagaaggcc
|
Allele “A” or
Allele “B”
| -
“b” Ca
0.16 “a” Ca
|
Exon 7
|
GSTM1*A
or
GSTM1*B
|
Normal catalytic activity in vitro
|
Glutathione S-transferase M3 (GSTM3); 1p13.3
|
|
|
|
|
|
|
AF043105.1
/4596
|
tctggggaaattctcatggtttgccggggaaaaggtaggaagaagggaaaagaag(agg)atacttctctatctctgcaggctactactcctcagacctaagcatcttattg
|
3bpdel
MnlI
|
0.158 Ca
|
Intron 6
|
GSTM3*B
|
Intronic creation of a recognition sequence for the YYI transcription factor
|
Glutathione S-transferase P1 (GSTP1); 11q13
|
|
|
|
|
|
|
M24485.1
/2627
|
ccccagggctctatgggaaggaccagcaggaggcagccctggtggacatggtgaatgacggcgtggaggacctccgctgcaaatac(A/G)tctccctcatctacaccaactatgtgagcatctgcaccagggttgggcactgggggctgaacaaagaaagggg
|
313A>G
I105V
|
0.296 Ca
|
Exon 5
|
GSTP1*B
GSTP1*C
|
Decreased enzyme activity with substrate CDNB
(GSTP1*B=0.204+
GSTP1*C=0.092)
but increased detoxification of BPDE (GSTP1*B)
|
M24485.1
/3517
|
cctggggcagacgggggtgtctcaggggctgggagggatgagagtaggatgatacatggtggtgtctggcaggagg(C/T)gggcaaggatgactatgtgaaggcactgcccgggcaactgaagccttttgagaccctgctgtcccagaaccagggaggcaagaccttcattgtgggagaccaggtgagcatctggccccatgctgttccttcctcgccaccctctgcttccag
|
341C>T
A114V
|
0092 Ca
|
Exon 6
|
GSTP1*C
|
Decreased enzyme activity with substrate CDNB
GSTP1*C
|
Glutathione S-transferase T1 (GSTT1); 22q11.23
|
|
|
|
|
|
|
AF240786.1
|
LOCUS DELETION
|
GSTT1-“null”
|
0.43 Ca
0.71 As
|
|
GSTT1*0
|
No activity
|
Glutathione S-transferase T2 (GSTT2); 22q11.23
|
|
|
|
|
|
|
AF240786.1
/34166
|
ccactcattggggtccaggtgcccaaggagaaggtggaacgcaacaggactgccat(G/A)gaccaggccctgcaatggctggaggacaagttcctgggggacaggcccttcctcgctggccagcaggtgacact
|
M139I
|
Rare Ca
|
Exon 4
|
|
n/a
|
Human homolog of mouse double minute 2, p53-binding protein (MDM2); 12q14.3-q15
|
|
|
|
|
|
|
NT_009500.3
/332707
|
attgtgaagcttgtgtaattttatcatcattttcctcaacacatgactctctggaatcattcactatagtttttttacaatcaggaacatcaaagccctc(T/C)tcagcttgtgttgagttttccagtttggctttctcagagatttcccctttatctttccctttatcttcaggaagccaattctcacgaagggcccaacatc
|
E354E
MboII
|
0.045 Ca
|
Exon 11
|
|
n/a
|
Ligase III, DNA, ATP-dependent (LIG3); 17q11.2-q12
|
|
|
|
|
|
AC004223.1
/85895
|
tggcctgagggagagggaagacagcaaacctagcagggagctaccagtctccgtttccggatacatgcccaaatccactctggggagacctgctgggccgcag(G/A)gttcttgtccctgctacccagcacgtgcgtggctgaagtcatatcaaattcctgtaccaggtccccgtcgaatgccacaaagtagcgtctgagacggctgaagtc
|
P899S
|
0.01 Mix
|
n/a
|
|
n/a
|
AC004223.1
/87641
|
tgtttggcacagcgtctcatcagcagctttccgcttctcccctactttcactggagaagactttgtggccagcttctcccccaccttcatagcggaaggc(T/G)ttgcagtctgcatgttgcctgcaggacagagaggaagctgggtgtggtggtgcacacctatagtcccagctactcgggaggatcaattcaactcaggag
|
K811T
|
0.01 Mix
|
n/a
|
|
n/a
|
AC004223.1
/88297
|
cttcaccataccagccccctccctatccttaccatctttgctgttggagttactcagcttcccttctgctttcttggtactggctgagggcttgctgggggccttg(C/T)gggacacagcagaccctgagggacccttattctcttcactgctaccccctgtagtggagctcccctcatctccagccactacagtgaagtctgccttctcctt
|
R780H
|
0.03 Mix
|
n/a
|
|
n/a
|
5,10-methylenetetrahydrofolate reductase (NADPH) (MTHFR); 1p36.3
|
|
|
|
|
|
|
NT_004488/542333
|
agcagggagctttgaggctgacctgaagcacttgaaggagaaggtgtctgcgggag(c/t)cgatttcatcatcacgcagcttttctttgaggctgacacattcttccgctttgtgaaggca
|
677C>T
A222V
|
0.29 Ca
033 As
|
Exon 4
|
|
Decreased enzyme activity
|
NT_004488/44235
|
ggggagctgaaggactactacctcttctacctgaagagcaagtcccccaaggaggagctgctgaagatgtggggggaggagctgaccagtgaag(a/c)aagtgtctttgaagtctttgttctttacctctcgggagaaccaaaccggaatggtcacaaagtgacttgcctgccctggaacgat
|
1298A>C
E429A
|
0.33 Ca
|
Exon 7
|
|
No activity
|
Myeloperoxidase (MPO); 17q23.1
|
|
|
|
|
|
|
NT_010651.8
/2516175
|
tggtagtgctaaattcaaaggctggggacaggctggggccagtggctcatgcctgtaatcccagcactttgggaggctgaggc(G/A)ggtggatcacttgaggtcaggagttcaagaccagcctggccaacatggtgaaaccctgtatctactaaaaatacaaaaatt
|
-463G>A
|
n/a
|
Promoter, it falls into the SP1 sequence
|
|
Decreased activity
In SP1
|
N-acetyltranferase 1 (NAT1); 8p22
|
|
|
|
|
|
|
X17059.1
/97
|
ctttgtataaggctcagctaaaagggaaattgagtgggtcaggtaccacggatactatacactctattgcatgattctcctgcctacatcagaaga(C/T)gtttataagcctattttaaaggataccagttggaatctctcttttattaatcaccaagagaaccatgaacaagctgtttatcatttgactcatcatttaatct
|
-344C>T
|
0.025 Ca
0.012 As
|
5’UTR
|
NAT1*11A,
NAT1*11B
|
Increased activity
NAT1*11A=0.025, NAT1*11B=0.00
|
X17059.1
/401
|
tgaaagcactagaaataattattatacttataaccattgtatttttacatgtttaaaatatagccataattagcctactcaaatccaagtgtaaaagtaa(A/T)atgatttgctttcgttttgttttccttgcttaggggatcatggacattgaagcatatcttgaaagaattggctataagaagtctaggaacaaattggac
|
-40A>T
|
0.025 Ca
|
5’UTR
|
NAT1*11A
|
Increased activity
NAT1*11A=0.025
|
X17059.1
/899
|
tgtcgatgctgggtttggacgctcataccagatgtggcagcctctggagttaatttctgggaaggatcagcctcaggtgccttgtgtcttccgtttgac(G/A)gaagagaatggattctggtatctagaccaaatcagaagggaacagtacattccaaatgaagaatttcttcattctgatctcctagaagacagcaaatacc
|
459G>A
T153T
|
0.025 Ca
0.012 Us
|
Coding sequence (no introns for NAT1)
|
NAT1*11A, NAT1*11B
|
Increased activity
NAT1*11A=0.025, NAT1*11B=0.00
|
X17059.1
/885
|
ggcaggaactacattgtcgatgctgggtttggacgctcataccagatgtggcagcctctggagttaatttctgggaaggatcagcctcaggtgccttgt(G/A)tcttccgtttgacggaagagaatggattctggtatctagaccaaatcagaagggaacagtacattccaaatgaagaatttcttcattctgatctcctaga
|
445G>A
V149I
|
0.025 Ca
0.012 Us
0.018 As
|
Coding sequence (no introns for NAT1)
|
NAT1*11A, NAT1*11B
|
Increased activity
NAT1*11A=0.025, NAT1*11B=0.00
|
X17059.1
/999
|
gaagagaatggattctggtatctagaccaaatcagaagggaacagtacattccaaatgaagaatttcttcattctgatctcctagaagacagcaaatac(C/T)gaaaaatctactcctttactcttaagcctcgaacaattgaagattttgagtctatgaatacatacctgcagacatctccatcatctgtgtttactagtaa
|
559C>T
R187Stop
|
0.002 Ca
0.003 Us
0 As
|
Coding sequence (no introns for NAT1)
|
NAT1*15
|
No activity
NAT1*15=0.002
|
X17059.1
/1000
|
gaagagaatggattctggtatctagaccaaatcagaaGgGaacagtacattccaaatgaagaatttcttcattctgatctcctagaagacagcaaatacc(G/A)aaaaatctactcctttactcttaagcctcgaacaattgaagattttgagtctAtgaatacatacctgcagacatctccatcatctgtgtttactagtaa
|
560G>A
R187Q
|
0.043 Ca
0 As
|
Coding sequence (no introns for NAT1)
|
NAT1*14A, NAT1*14B
|
Decreased activity (decreased affinity and expression)
NAT1*14A=0.006, NAT1*14B=0.037
|
X17059.1
/630
|
ccagatccgagctgttccctttgagaaccttaacatccattgtggggatgccatggacttaggcttagaggccatttttgatcaagttgtgagaagaaat(C/T)ggggtggatggtgtctccaggtcaatcatcttctgtactgggctctgaccactattggttttgagaccacgatgttgggagggtatgtttacagcactc
|
190C>T
R64W
|
0.003Mix Ca
0.011 Us
0 As
|
Coding sequence (no introns for NAT1)
|
NAT1*17
|
Decreased activity
Decreased thermal stability and protein expression
NAT1*17=0.003
|
X17059.1
/461
|
agccataattagcctactcaaatccaagtgtaaaagtaaaatgatttgctttcgttttgttttccttgcttaggggatcatggacattgaagcatatct(T/G)gaaagaattggctataagaagtctaggaacaaattggacttggaaacattaactgacattcttcaacaccagatccgagctgttccctttgagaacctta
|
21T>G
|
n/a
|
5’UTR
|
NAT1*27
|
No effect
|
X17059.1
/537
|
atcatggacattgaagcatatcttgaaagaattggctataagaagtctaggaacaaattggacttggaaacattaactgacattcttcaacaccagatc(C/T)gagctgttccctttgagaaccttaacatccattgtggggatgccatggacttaggcttagaggccatttttgatcaagttgtgagaagaaatcggggtgg
|
97C>T
|
0 Ca
0 As
|
5’UTR
|
NAT1*19
|
Decreased activity
|
X17059.1
/790
|
tttgagaccacgatgttgggagggtatgtttacagcactccagccaaaaaatacagcactggcatgattcaccttctcctgcaggtgaccattgatggca(G/C)gaactacattgtcgatgctgggtttggacgctcataccagatgtggcagcctctggagttaatttctgggaaggatcagcctcaggtgccttgtgtctt
|
350G>C
R117T
|
0 Us
|
Coding sequence (no introns for NAT1)
|
NAT1*5
|
Activity=n/a
|
X17059.1
/791
|
ttgagaccacgatgttgggagggtatgtttacagcactccagccaaaaaatacagcactggcatgattcaccttctcctgcaggtgaccattgatggcag(G/C)aactacattgtcgatgctgggtttggacgctcataccagatgtggcagcctctggagttaatttctgggaaggatcagcctcaggtgccttgtgtcttc
|
351G>C
R117T
|
0 Us
|
Coding sequence (no introns for NAT1)
|
NAT1*5
|
Activity=n/a
|
X17059.1
/842
|
acagcactggcatgattcaccttctcctgcaggtgaccattgatggcaggaactacattgtcgatgctgggtttggacgctcataccagatgtggcagcc(T/C)ctggagttaatttctgggaaggatcagcctcaggtgccttgtgtcttccgtttgacggaagagaatggattctggtatctagaccaaatcagaagggaa
|
402T>C
P134P
|
0.0019 Mix
|
Coding sequence (no introns for NAT1)
|
NAT1*20
|
No effect
|
X17059.1
/937
|
cagcctctggagttaatttctgggaaggatcagcctcaggtgccttgtgtcttccgtttgacggaagagaatggattctggtatctagaccaaatcagaa(G/C)ggaacagtacattccaaatgaagaatttcttcattctgatctcctagaagacagcaaataccgaaaaatctactcctttactcttaagcctcgaacaat
|
497G>C
R166T
|
0 Ca
|
Coding sequence (no introns for NAT1)
|
NAT1*5
|
Activity=n/a
|
X17059.1
/939
|
cctctggagttaatttctgggaaggatcagcctcaggtgccttgtgtcttccgtttgacggaagagaatggattctggtatctagaccaaatcagaagg(G/C)aacagtacattccaaatgaagaatttcttcattctgatctcctagaagacagcaaataccgaaaaatctactcctttactcttaagcctcgaacaattga
|
499G>C
R166T
|
0 Ca
|
Coding sequence (no introns for NAT1)
|
NAT1*5
|
Activity=n/a
|
X17059.1
/1053
|
agtacattccaaatgaagaatttcttcattctgatctcctagaagacagcaaataccgaaaaatctactcctttactcttaagcctcgaacaattgaagattttgagtct(A/T)tgaatacatacctgcagacatctccatcatctgtgtttactagtaaatcattttgttccttgcagaccccagatggggttcactgtttg
|
613A>T
M205V
|
0 Ca
0 As
|
Coding sequence (no introns for NAT1)
|
NAT1*21
|
No effect
|
X17059.1
/1080
|
cctagaagacagcaaataccgaaaaatctactcctttactcttaagcctcgaacaattgaagattttgagtctatgaatacatacctgcagacatctcca(T/G)catctgtgtttactagtaaatcattttgttccttgcagaccccagatggggttcactgtttggtgggcttcaccctcacccataggagattcaattata
|
640T>G
S214A
|
0.025 Ca
0.012 Us
|
Coding sequence (no introns for NAT1)
|
NAT1*11A, NAT1*11B
|
Increased activity
NAT1*11A=0.025, NAT1*11B=0.00
|
X17059.1
/1192
|
ctagtaaatcattttgttccttgcagaccccagatggggttcactgtttggtgggcttcaccctcacccataggagattcaattataaggacaatacag(A/T)tctaatagagttcaagactctgagtgaggaagaaatagaaaaagtgctgaaaaatatatttaatatttccttgcagagaaagcttgtgcccaaacatggt
|
752A>T
D251V
|
0.006 Ca
|
Coding sequence (no introns for NAT1)
|
NAT1*22
|
Decreased activity
Decreased thermal stability and protein expression
NAT1*22=0.006
|
X17059.1
/1217
|
agaccccagatggggttcactgtttggtgggcttcaccctcacccataggagattcaattataaggacaatacagatctaatagagttcaagactctgagtgaggaagaa(A/T)tagaaaaagtgctgaaaaatatatttaatatttccttgcagagaaagcttgtgcccaaacatggtgatagattttttactatttagaat
|
777A>T
S259S
|
0 Us
|
Coding sequence (no introns for NAT1)
|
NAT1*23, NAT1*27
|
No effect
|
X17059.1
/1221
|
cccagatggggttcactgtttggtgggcttcaccctcacccataggagattcaattataaggacaatacagatctaatagagttcaagactctgagtgag(G/A)aagaaAtagaaaaagtgctgaaaaatatatttaatatttccttgcagagaaagcttgtgcccaaacatggtgatagattttttactatttagaataagg
|
781G>A
E261L
|
0-0.02 As
|
Coding sequence (no introns for NAT1)
|
NAT1*24
|
Lower O-acetylation activity
|
X17059.1
/1227
|
tggggttcactgtttggtgggcttcaccctcacccataggagattcaattataaggacaatacagatctaatagagttcaagactctgagtgaggaagaa(A/G)tagaaaaagtgctgaaaaatatatttaatatttccttgcagagaaagcttgtgcccaaacatggtgatagattttttactatttagaataaggagtaaa
|
787A>G
I263V
|
0 Us
|
Coding sequence (no introns for NAT1)
|
NAT1*25
|
No effect
|
X17059.1
/1324
|
gaaatagaaaaagtgctgaaaaatatatttaatatttccttgcagagaaagcttgtgcccaaacatggtgatagattttttactatttagaataaggagt(A/G)aaacaatcttgtctatttgtcatccagctcaccagttatcaactgacgacctatcatgtatcttctgtacccttaccttattttgaagaaaatcctaga
|
884A>G
|
0 Us
|
3’UTR
|
NAT1*5
|
Activity=n/a
|
X17059.1
/1416
|
taaggagtaaaacaatcttgtctatttgtcatccagctcaccagttatcaactgacgacctatcatgtatcttctgtacccttaccttattttgaagaaa(Adel)tcctagacatcaaatcatttcacctataaaaatgtcatcatatataattaaacagctttttaaagaaacataaccacaaaccttttcaaataataataat
|
976Adel
|
0 Us
|
3’UTR
|
NAT1*5
|
Activity=n/a
|
X17059.1
/1465
|
actgacgacctatcatgtatcttctgtacccttaccttattttgaagaaaatcctagacatcaaatcatttcacctataaaaatgtcatcatatataat(Tdel)aaacagctttttaaagaaacataaccacaaaccttttcaaataataataataataataataataaatgtattttaaagatggcctgtggttatcttggaa
|
1025Tdel
|
0.002 Ca
|
3’UTR
|
NAT1*29
|
NAT1*29=0.002
|
X17059.1
/1504
|
ttttgaagaaaatcctagacatcaaatcatttcacctataaaaatgtcatcatatataattaaacagctttttaaagaaacataaccacaaaccttttc(AAAdel)taataataataataataataataaatgtattttaaagatggcctgtggttatcttggaaattggtgatttatgctagaaagcttttaatgttggttta
|
1064AAAdel
|
n/a
|
3’UTR
|
NAT1*18A,
NAT1*18B
|
n/a
|
X17059.1
/1525
|
atcaaatcatttcacctataaaaatgtcatcatatataattaaacagctttttaaagaaacataaccacaaaccttttcaaataataataataataataa(taataadel)atgtattttaaagaTggcctgtggttatcttggaaattggtgatttatgctagaaagcttttaatgttggtttattgttgaattc
|
1085TAATAAdel
|
0.002 Ca
|
3’UTR
|
NAT1*28
|
NAT1*28=0.002
|
X17059.1
/1528
|
aaatcatttcacctataaaaatgtcatcatatataattaaacagctttttaaagaaacataaccacaaaccttttcAAAtaataataataataataataa(T/A)aaatgtAttttaaagatggcctgtggttatcttggaaattggtgatttatgctagaaagcttttaatgttggtttattgttgaattc
|
1088T>A
|
0.23 Ca
|
3’UTR
poly-adenylation signal
|
NAT1*10, NAT1*14B,
NAT1*18A,
NAT1*29
|
NAT1*10=0.191, It falls into the polyadenylation signal. It may increase the stability of mRNA
and the activity in NAT1*10; NAT1*14B= 0.037 decreased activity; NAT1*18A=n/a
NAT1*29=0.002
|
X17059.1
/1531
|
catttcacctataaaaatgtcatcatatataattaaacagctttttaaagaaacataaccacaaaccttttcaaataataataataataataataataaa(TAAins)tgtattttaaagatggcctgtggttatcttggaaattggtgatttatgctagaaagcttttaatgttggtttattgttgaattc
|
1091TAAins
|
0.002 Ca
|
3’UTR
|
NAT1*26A
NAT1*26B
|
NAT1*26B=0.002, NAT1*26A=n/a
|
X17059.1
/1535
|
ttcacctataaaaatgtcatcatatataattaaacagctttttaaagaaacataaccacaaaccttttcaaataataataataataataataataaatgt(A/C)ttttaaagatggcctgtggttatcttggaaattggtgatttatgctagaaagcttttaatgttggtttattgttgaattc
|
1095A>C
|
0.252 Ca
|
3’UTR
|
NAT1*3, NAT1*10,
NAT1*11A,
NAT1*14A,
NAT1*16,
NAT1*18A,
NAT1*26A,
NAT1*29
|
NAT1*3=0.028,n/a, NAT1*10=0.191, may increase activity,
NAT1*11A=0.025, increased activity,
NAT1*14A=0.006, decreased activity,
NAT1*16=0.00,
NAT1*18A=n/a,,
NAT1*26A=n/a,
NAT1*29=0.002, n/a
|
X17059.1
/1545
|
aaatgtcatcatatataatTaaacagctttttaaagaaacataaccacaaaccttttcaaataataataataataataataaTaaatgtAttttaaagaT(del)ggcctgtggttatcttggaaattggtgatttatgctagaaagcttttaatgttggtttattgttgaattc
|
1105Tdel
|
0 Us
|
3’UTR
|
NAT1*5
|
n/a
|
|
|
