|
hMLH1
mutant CONTROL PLASMID MIX
The hMLH1 mut
plasmid mix contains 17 plasmids which contain mutated coding regions
for exons 1-19 as shown below. (Click on exon number to view dHPLC
trace)
Exon
|
Cloned
fragment *.
|
Nucleotide
Change*
|
Amino
acid Change*
|
|
|
1-
20 to IVS1+330
|
62
C>G
|
A21A
|
|
|
IVS1-200
to IVS2+183
|
207+1G>C
|
Splice
|
|
|
IVS2-235
to IVS3+138
|
280
A>T
|
I94F
|
|
|
IVS3-235
to IVS4+92
|
367
A>T
|
K123X
|
|
|
IVS4-220
to IVS5+140
|
418
A>T
|
K140X
|
|
|
IVS5-141
to IVS6+154
|
497
T>A
|
L166X
|
|
|
IVS6-191
to IVS8+230
|
588+1
G>A
|
Splice
|
|
|
IVS6-191
to IVS8+230
|
645
T>A
|
N215K
|
|
|
IVS8-187
to IVS9+131
|
725
T>A
|
M242K
|
|
|
IVS9-178
to IVS10+173
|
868
C>A
|
P290T
|
|
|
IVS10-107
to IVS11+179
|
911
A>T
|
D304V
|
12
|
IVS11-166
to IVS12+130
|
1376
C>G
|
S459X
|
|
|
IVS12-132
to IVS13+110 1
|
1486
C>A
|
P496T
|
|
|
IVS13-147
to IVS14+158
|
1661
A>C
|
K554T
|
|
|
IVS14-207
to IVS15+143
|
1717
G>T
|
V573F
|
|
|
IVS15-177
to IVS16+58
|
1846
A>T
|
K616X
|
|
|
IVS16-293
to IVS18+79
|
1897-2
A>G
|
Splice
|
|
|
IVS16-293
to IVS18+79
|
2008
A>T
|
K670X
|
|
|
IVS18-74
to 2434
|
2176
T>A
|
S726T
|
|
_
