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No. |
Region |
Codon |
Nucleotide change |
Amino acid or other change change |
Restriction site alteration |
Allele frequency |
Reference |
1 |
5'UTR |
-512nt |
c.-514_-511dup |
|
MboII |
|
Azevedo et al. [2003] |
2 |
5'UTR |
|
c.-441G>A |
|
|
|
Azevedo et al. [2003] |
3 |
5'UTR |
|
c.-365G>A |
|
TseI Fnu4HI BbvI |
|
Azevedo et al. [2003] |
4 |
5'UTR |
|
c.-339A>G |
|
|
|
Azevedo et al. [2003] |
5 |
Exon 1 |
12 |
c.34G>A |
p.Ala12Thr |
TseI CviRI Fnu4HI BbvI |
|
Tanaka et al. [2005] |
6 |
Exon 2 |
46 |
c.137A>G |
p.Lys46Arg |
DdeI |
|
Grompe et al. [1989] |
7 |
Intron 2 |
|
c.217-54insA |
|
|
|
Matsuura et al. [1993] |
8 |
Exon 3 |
78 |
c.234A>G |
p.Gln78Gln |
|
1.00/0.00 |
Climent and Rubio [2002a] |
9 |
Intron 3 |
|
c.299-39_40insT |
|
|
0.66/0.34 |
Climent and Rubio [2002a] |
10 |
|
|
c.299-16_17insT |
|
|
0.00/1.00 |
Climent and Rubio [2002a] |
11 |
|
|
c.299-17insT |
|
|
|
Matsuura et al. [1993] |
12 |
|
|
c.299-8A>T |
|
MseI Tsp509I |
0.50/0.50 |
Tuchman and Plante [1995] |
13 |
Exon 4 |
101 |
c.303A>T |
p.Leu101Pheb |
EspI, DdeI |
0.99/0.01 |
Tuchman and Plante [1995] |
14 |
|
111 |
c.332T>C |
p.Leu111Pro |
|
1.00/0.00 |
Grompe et al. [1991] |
15 |
Intron 4 |
|
c.386+8A>G |
|
SspI |
0.98/0.02 |
Tuchman and Plante [1995] |
16 |
|
|
c.387-7A>G |
|
|
0.71/0.29 |
Matsuura et al. [1993] |
17 |
Exon 5 |
143 |
c.429T>C |
p.Tyr143Tyr |
TatI, RsaI |
0.98/0.02 |
Plante and Tuchman [1998] |
18 |
|
151 |
c.453G>T |
p.Leu151Leu |
SecI BssKI EcoRII ScrFI BseBI CviJI |
1.00/0.00 |
Climent and Rubio [2002a] |
19 |
Intron 5 |
|
c.541-63G>A |
|
DdeI, MseI |
|
Azevedo et al. [2003] |
20 |
Exon 6 |
193 |
c.579G>T |
p.Trp193Cys |
BsiYI MboI DpnI BstKTI BinI |
1.00/0.00 |
Climent and Rubio [2002a] |
21 |
|
194 |
c.580A>T |
p.Ile194Phe |
MboI DpnI BstKTI BinI |
1.00/0.00 |
Climent and Rubio [2002a] |
22 |
|
195 |
c.585G>A |
p.Gly195Gly |
FokI, BstF5I |
1.00/0.00 |
Tuchman et al. [1998] |
23 |
Exon 8 |
270 |
c.809A>G |
p.Gln270Arg |
|
0.875/0.125 |
Tuchman et al. [1992] |
24 |
|
279 |
c.837G>A |
p.Gln279Gln |
Eco57MI GsuI BssKI EcoRII BseBI ScrFI
HindIII AluI CviJI |
1.00/0.00 |
Climent and Rubio [2002a] |
25 |
|
285 |
c.855G>A |
p.Gln285Gln |
SexAI BssKI EcoRII BSeBI ScrFI |
1.00/0.00 |
Climent and Rubio [2002a] |
26 |
Intron 8 |
|
c.867+35G>T |
|
|
0.62/0.38 |
Azevedo et al. [2002] |
27 |
Exon 9 |
333 |
c.997A>G |
p.Thr333Ala |
|
|
Climent and Rubio [2002a] |
28 |
Intron 9 |
|
c.1006-70C>T |
|
HphI EcoNI BsiYI |
|
Azevedo et al. [2003] |
29 |
|
|
c.1006-12G>T |
|
|
1.00/0.00 |
Matsuura et al. [1993] |
|
aThe
reference sequence used is RefSeq
NM_000531.3 |
|
|
|
bIn
RefSeq NM_000531.3 position 101 is a Phe. We more
commonly see Leu at this position. |
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