Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3); 5p15.3
|
|
|
|
|
|
AF119117.1
/58554
|
tgtggtgtagggaacggcctgag aggagcgtgtcctatccccggacgcatgcagggcccccac aggagcgtgtcctatccccggacgcatgcagggcccccac aggagcatgtcctatccctggacgcatgcagggcccccac aggagcgtgtactaccccagaacgcatgcagggcccccac aggagcgtgtactaccccaggacgcatgcagggcccccac tggagcgtgtactaccccaggacgcatgcagggcccccac aggagcgtgtcctatccccggaccggacgcatgcagggcccccac aggagcgtgtactaccccaggacgcatgcagggcccccac aggagcgtgtactaccccaggatgcatgcagggcccccac aggagcgtgtactaccccaggacgcatgcagggcccccat gcaggcagcctgcagaccaacactctgcctggccttgagccgtgacctccaggaag
|
A10
A9
A11
A7
|
11 rep:
0.019 As
9 rep:
0.042 As
0.23 Ca
7 rep:
0.009 As
|
3’UTR
|
10 repeats =wt
Variants:
11, 9, 7
|
Reduced DAT protein levels
|
D88556.1
/961
|
ggccgccgcttgctcccagccatctgcgtccgggaggcgggggcgggggcgcggcccggggaggtgaggaggaggagccaggacgcgagggcgaccccg(T/A)cggcgggagggcggggcggggcggaccctgtctactggataagagcccgaggccgaggctgagaccgcccagcgctgcggagcgggaggggaggcttcgc
|
-67T>A
|
0.53 Ca
|
5’UTR, it creates a SIF binding element
|
|
It creates a SIF binding element
|
AC022130.4
/121577
|
gccctggagccggataccaaccgccagggctttccaggcccgtcccgggaaatggttttcttaggcgagtgcgaggcgggcccctcggttccgatgcag(G/C)cgcactagatgccggcaaggcggggactaggcctaggggacctcggtcgcctcgaggtcgcggagaccccaaggccacggaaggacccgcgtctccgcag
|
-660G>C
|
0.03 Ca
|
5’UTR
|
|
It changes a T-Ag element in a TEF recognition site
|
AC022130.4
/121756
|
cgccggggttcgggcgaccctaggggcgacgcacagagctgggcgcggccactcacctcggtgccttctaaggacctggacatcctgggccttggcggcc(C/T)gggggctccattcctccgcgcgctgaatggaagaaatcccgcccgggcatctcggaaggaaagcctcggagtccattcggccctggagccggataccaa
|
-839C>T
|
0.45 Ca
|
5’UTR
|
|
It creates a LBP-1 binding site
|
AC022130.4
/122087
|
gactccgcagtacccgcccgcagcgcggtgccccacccccctgcgcccgccccgcactccccgcacaccaccactcccctccccgccccccgctcccc(C/G)gctccccggctccggggctggcacccaggcagaaggcactcagggctgtgacttcacgctgagttggaatcaagtgggagcctagtgaccccctggggctg
|
-1169G>C
|
0.50 Ca
|
5’UTR
|
|
It replaces a ETF element on EGR-1 regognition site
|
AC022130.4
/122395
|
ctgaagtcccctcacctccctggcgatgaagtcccacccctgatgggaggtggtgtcaggaggccttcaggtggtcaggccaggagggctccaccctga(T/G)gaatgggaccagtgccctcataaaacagaccccggagagctctccccagcccctagcgtggggagatacagggagagaactgtctgcaaccccgaagcg
|
-1476T>G
|
0.08 Ca
|
5’UTR
|
|
n/a
|
Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1); 16p12.1
|
|
|
|
|
|
|
AC020765.6
/140110
|
tcctgggggacggtggtgtagttggtcatagggttcttcttcatctccttgaacgacgtgtgctgaaccacgaagtccacggtctcctctggcagggag(T/C)gccccacaaactccaggatcttttgaatctcccttttcgggttctgagcagcagagggcccctcagtggaggctcggattactgattcaggaaaagtaaa
|
R213H
HaeII
|
0.32 Ca
|
Exon 7
|
SULT1A1*2
|
Lower 4-nitrophenol sulphotransferase activity and thermal stability
|
AC020765.6
/140081
|
tgaagggggagatgctgtggtccatgaactcctgggggacggtggtgtagttggtcatagggttcttcttcatctccttgaacgacgtgtgctgaacca(C/T)gaagtccacggtctcctctggcagggagCgccccacaaactccaggatcttttgaatctcccttttcgggttctgagcagcagagggcccctcagtggag
|
M223V
|
0.010 Ca
|
Exon 7
|
SULT1A1*3
|
Very low Km for 5’-phosphosulfate and 4-nitrophenol
|
Superoxide dismutase 2, mitochondrial (SOD2); 6q25.3
|
|
|
|
|
|
|
AL135914.23
/64527
|
tgccgttcctcggcagcccagcctgcgtagacggtcccgcggcgctgactgaccgggctgtgctttctcgtcttcagcaccagcaggcagctggctccgg(C/T)tttggggtatctgggctccaggcagaagcacagcctccccgacctgccctacgactacggcgccctggaacctcacatcaacgcgcagatcatgcagct
|
1183C>T
V16A
-9Ala
Bsa WI
|
0.14 As
0.44 Ca
|
Exon 1
|
|
It falls into the mitochondrial targeting sequence and it may lead to misdirected intracellular trafficking
|
AL135914.23
/59909
|
ttacaaagaaaaaaatataatgtatacagtggttgaaaaagtaggagttacaaaaaaatgtgtttgcattttaacttttcaggagatgttacagcccaga(T/C)agctcttcagcctgcactgaagttcaatggtggtggtcatatcaatcatagcattttctggacaaacctcagccctaacggtggtggagaacccaaagg
|
5777T>C
I58T
|
0 Ca
|
Exon 3
|
|
Affects the stability of the tetrameric interface of MnSOD
|
Thiopurine S-methyltransferase (TPMT); 6p22.3
|
|
|
|
|
|
|
AB045146/12225
|
ctctaaattaaagaaaatatatgcttactctaatataaccctctatttagtcatttgaaaacataatttaagtgtaaatgtatgattttatgcaggttt(G/C)cagaccggggacacagtgtagttggtgtggaaatcagtgaacttgggatacaagaattttttacagagcagaatctttcttactcagaagaaccaatca
|
238G>C
A80P
|
0-0.005 Ca
0 As
|
Exon 5
|
TPMT*2
|
Low activity
|
AB045146/16954
|
accatgggggacgctgctcatcttcttaaagatttgatttttctcccataaaatgttttttctctttctggtaggacaaatattggcaaatttgacatgatttgggatagagga(G/A)cattagttgccattaatccaggtgatcgcaaatggtaagtaatttttctttttttgtttagctgtcttaattttttagtatactata
|
460G>A
A154T
|
0.039 Ca
0 As
|
Exon 7
|
TPMT*3B
TPMT*3A
|
Low activity
|
AB045146/25270
|
tcttgtttcaggtaaaatatgcaatatacgttgtcttgagaaggttgatgcttttgaagaacgacataaaagttggggaattgactgtctttttgaaaagttat(A/G)tctacttacagaaaagtaaatgagacatagataaaataaaatcacactgacatgtttttgaggaattgaaaattatgctaaagcctgaaaatgta
|
719A>G
Y240C
|
0.05 Ca
0.008 As
|
Exon 10
|
TPMT*3C
TPMT*3A
|
Low activity
|
Tumor suppressor protein TP53 (p53); 16p13
|
|
|
|
|
|
|
NT_010687.2
/207249
|
gcaatggatgatttgatgctgtccccggacgatattgaacaatggttcactgaagacccaggtccagatgaagctcccagaatgccagaggctgctcccc(G/C)cgtggcccctgcaccagcagctcctacaccggcggcccctgcaccagccccctcctggcccctgtcatcttctgtcccttcccagaaaacctaccagggc
|
R72P
BstUI
|
0.33 Ca
0.40 As
|
Exon 4
|
|
It may cause a decreased binding to p73
|
NT_010687.2
/207061
|
gcagagacctgtgggaagcgaaaattcatgggactgactttctgctcttgtctttcagacttcctgaaaacaacgttctggtaaggacaagggttgggctggggacctggagggctggggggctggggggctgaggacctggtcctctgactgctc
|
16bp 2X-rep
|
0.20 Ca
|
Intron 3
|
A1 (wt)
A2
|
n/a
|
UDP glycosiltransferase 1 family, polypeptide A1 (UGT1A1); 2q37
|
|
|
|
|
|
|
AF297093.1
/174990
|
gtcacgtgacacagtcaaacattaacttggtgtatcgattggtttttgcca(TA)nagtaggagagggcgaacctctggcaggagcaaa
|
[TA]6
[TA]5
[TA]7
[TA]8
|
n=5:
0.05 Ca
0 As
0 H
0 Af
n=6:
0.87 As
0.70 Ca
0.38 H
0.75 Af
n=7:
0.13 As
0.30 Ca
0.63 H
0 Af
n=8:
0.002 Ca
0.25 Af
0 H
0 As
|
Promoter
|
UGT1A1*28
|
Reduced promotor activity and increased serum bilirubin concentration
|
UDP glycosiltransferase 1 family, polypeptide A7 (UGT1A7);2q37
|
|
|
|
|
|
|
AF297093/99152
|
tgccactatcttgaagaaggtgcacagtgccctgctcctctttcctatgtccccagacttctcttagggttctcagacgccatgactttcaaggagagagta(T/C)ggaaccacatcatgcacttggaggaacatttattttgcccctattttttcaaaaatgtcttagaaatagcctctgaa
|
W208R
|
0.38 Ca
|
Exon 1
|
UGT1A7*4
UGT1A7*3
|
Low activity
|
AF297093/98938
|
ggagttcatggtttttgccgatgctcgctggacggcaccattgcgaagtgcattttctctattaacaagttcatccaatggtatttttgacttatttttttcaaattgcaggagtttgtttaa(T/G)gaccgaaaattagtagaatacttaaaggagagttgttttgatgcagtgtttctcgatccttttgat
|
N129K
|
0.62 Ca
|
Exon 1
|
UGT1A7*2
UGT1A7*3
|
Low activity
|
AF297093/98942-3
|
ggagttcatggtttttgccgatgctcgctggacggcaccattgcgaagtgcattttctctattaacaagttcatccaatggtatttttgacttatttttttcaaattgcaggagtttgtttaatgac(CG/AA)aaaattagtagaatacttaaaggagagttgttttgatgcagtgtttctcgatccttttgat
|
R131K
|
0.62 Ca
|
Exon 1
|
UGT1A7*2
UGT1A7*3
|
Low activity
|
Xeroderma pigmentosum, complemen-tation group G (ERCC5/XPG); 13q22
|
|
|
|
|
|
|
AL157769.12
/136886
|
gaggatgaagagaaaaatcccggagttttttccattaacaattctcccagatattagcatttggttaaaccaagcacttaaaggagtccgggatcgcca(T/C)gggaactcaatagaaaatcctcatcttctcactttgtttcatcggctctgcaaactcttattttttcgaattcgtcctatttttgtgtttgatggggatg
|
335T>C
H46H
NcoI
|
0.46 Am
|
Exon 2
|
|
n/a
|
AL157769.12
/160371
|
aaaagaaagaggctttcagattctaaaggaaagaatacatgcggtggatttttgggggagacctgcctctcagaatcatctgatggatcttcaagtgaa(C/G)atgctgaaagttcatctttaatgaatgtacaaaggagaacagctgcgaaagagccaaaaaccagtgcttcagattcgcagaactcagtgaaggaagctcc
|
3508C>G
H1104D
|
0.22 Am
|
Exon 15
|
|
n/a
|
X-ray repair cross-complementing DNA repair gene group1 (XRCC1); 19q13.2
|
|
|
|
|
|
|
L34079.1
/26304
|
tgcgggaccttagaaggtgacagtgaccaagcttggccagttccgtgtgaaggaggaggatgagagcgccaactctctgaggccgggggctctcttcttcagc(C/T)ggatcaacaagacatccccaggtgagctcggacaacgtgggtcctgagtgagtagggttgagacctagactcgtgggtctgagggtagagggggctggggctcaga
|
R194W
|
0.13 Mix
|
Exon 6
|
|
n/a
|
L34079.1
/27466
|
tctggggcctggactgctgggtctgagggaggaggggctgggggttgacccccagtggtgctaacctaatctactctttgtcttctccagtgccagctccaactc(G/A)taccccagccacagccccagtccctgcccgagcacagggggcagtgacaggcaaaccccgaggagaaggcaccgagcccagacgaccccgagctggcccagagg
|
R280H
|
0.03 Mix
|
Exon 9
|
|
n/a
|
L34079.1
/28152
|
caacacccccaagtacagccaggtcctaggcctgggaggccgcatcgtgcgtaaggagtgggtgctggactgtcaccgcatgcgtcggcggctgccctccc(G/A)gaggtaaggcctcacacgccaaccctgctccttatcctgtgctgggcaatgccaggaatctggaggggagtcagactggggcctgccagcggagaacacaggtggtcc
|
R399Q
|
0.28 Mix
|
Exon 10
|
|
n/a
|
X-ray repair cross-complementing DNA repair gene group2 (XRCC2); 7q36.1
|
|
|
|
|
|
AC003109.1
/31479
|
agctttttactggatagaccgcgtcaatggaggagaaagtgtgaacttacaggagtctactctgaggaaatgttctcagtgcttagagaagcttgtaaatgactatc(G/A)cctggttctttttgcaacgacacaaactataatgcagaaagcctcgagctcatcagaagaaccttctcatgcctctcgacgactgtgtgatgtggacata
|
R188H
|
0.05 Mix
|
Exon 3
|
|
n/a
|
X-ray repair cross-complementing DNA repair gene group3 (XRCC3); 14q32.3
|
|
|
|
|
|
|
AF037222
/18067
|
atggctcgcctggtggtcatcgactcggtggcagccccattccgctgtgaatttgacagccaggcctccgcccccagggccaggcatctgcagtccctgggggcca(C/T)gctgcgtgagctgagcagtgccttccagagccctgtgctgtgcatcaaccaggtgagcaccaaggcagggttgcacccctgagctcgtatttttagccaggat
|
T241M
|
0.42 Mix
|
Exon 5
|
|
n/a
|
X-ray repair cross-complementing DNA repair gene group9 (XRCC9); 9p13
|
|
|
|
|
|
|
AC004472.1
/55417
|
caccaactcaggtcccaatcagaaaatcatccctccacaccccctctaggaccccgggctcacctgctaaattcactaattgccactttttgggcacccagttgaa(C/A)ccaggcctggccctgaagcaggtgggtggcagagacccagagtgggcagtatggcagttccttggttccttttctggcatcttcccacagccgggacatcttgggtagcagag
|
V464F
|
0.01 Mix
|
Exon 9
|
|
n/a
|
AC004472.1
/56429
|
tgagcaaggggaacctcacctccccgtctgtaggcacctgcttgctagtatgtgcttggtctggctctgagtgccacaatgaaggggtgaggctaggtcaggtggtg(G/A)cagtagtaattctacctcaatgagaaactgcggggctttggaactgcatgggacattcaaggcctaaaagagaaagaaaaaaattgtatctataatctttg
|
P330S
|
0.01 Mix
|
Exon 7
|
|
n/a
|
AC004472.1
/56667
|
actagtcaagtcaccccatcacaagcacctcaggaatcctccaccccacatcttcacctggcagttccctacctcaactagcagctccagactctccagctctgct(G/A)ttgtgtcccccagttgctgatagagcctagaggcctccagaagtggaggaccccaggctgatccctctttcagggctgcaaccaagtacaacagtgctctctg
|
T297I
|
0.01 Mix
|
Exon 7
|
|
n/a
|
Xeroderma pigmentosum, complemen-tation groupD (ERCC2/XPD); 19q13.3
|
|
|
|
|
|
|
L47234.1
/23047
|
ctgcctgtgcaggcctgtgtgggagtgacgggccagtgtggccaggggtaggggtaggggttggggtggcagggccctggtaaccctgctccccggccccccagat(C/G)ctgcatgccaatgtggtggtttatagctaccactacctcctggaccccaagattgcagacctggtgtccaaggaactggcccgcaaggccgtcgtggtcttcg
|
I199M
|
0.01 Mix
|
Exon 8
|
|
n/a
|
L47234.1
/23051
|
cctgtgcaggcctgtgtgggagtgacgggccagtgtggccaggggtaggggtaggggttggggtggcagggccctggtaaccctgctccccggccccccagatcctg(C/T)atgccaatgtggtggtttatagctaccactacctcctggaccccaagattgcagacctggtgtccaaggaactggcccgcaaggccgtcgtggtcttcg
|
H201Y
|
0.01 Mix
|
Exon 8
|
|
n/a
|
L47234.1
/23591
|
gcagcgcctgcgggacgagtaccggcgtctggtggaggggctgcgggaggccagcgccgcccgggagacggacgcccacctggccaaccccgtgctgccc(G/A)acgaagtgctgcagggtgagccccgaccccccgctgccccccagtccctttcccgcctccccgtcgccgctgatagcgtctcctcgcagaggcagtgcct
|
D312N
|
0.40 Mix
|
Exon 10
|
|
n/a
|
L47234.1
/35931
|
caacagtgcccccctctccctttcctctgttctctgcaggaggatcagctgggcctgtccctgctcagcctggagcagctagaatcagaggagacgctg(A/C)agaggatagagcagattgctcagcagctctgagtggggcgggtggggccataaacggttcctggtgactcctgagtcttgcctggccctggttcccagc
|
L751Q
|
0.32 Mix
|
Exon 23
|
|
n/a
|
Xeroderma pigmentosum, complementation group F (ERCC4/XPF); 16p13.3-p13.11
|
|
|
|
|
|
|
L76568.1
/16151
|
aaaagcctttggaagactttatgggtaaatattatcacatagaatgagatatttttatttctctacagaaacaaaaaaggaactggtcctagaaagcaac(C/T)caaagtgggaggcactgactgaagtattaaaagaaattgaggcagaaaataaggagagtgaagctcttggtggtccaggtaggaaaaaaggagatgaaa
|
P379S
|
0.03 Mix
|
n/a
|
|
n/a
|
L76568.1
/17103
|
gaataagggggcacagggaaactaggaggacaagtgaggtaatagtaacataatgttgttttctattttcaggtcaagtactgatttgtgcaagtgatgacc(G/A)aacatgttcccagctgagagactatatcactcttggagcggaggccttcttattgaggctctacaggaaaacctttgagaaggatagcaaagctgaa
|
R415Q
|
0.06 Mix
|
n/a
|
|
n/a
|
