| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Glu7GlyfsX57 |
c.20delA |
1 |
7 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 63 |
2  |
|
|
| p.Glu28ArgfsX36 |
c.82delG |
1 |
28 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 63 |
3  |
|
|
| p.Glu56ArgfsX8 |
c.166delG |
1 |
56 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 63 |
4  |
|
|
| p.Glu290_Gln324del |
c.868_972del |
5 |
290 |
EXO1 stabilization |
|
Small rearrangement |
InF |
In frame del |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2467 |
SO_-3104---G03265 | |
|
- |
|
71 |
|
| p.Glu290AspfsX2 |
c.870delA |
5 |
290 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 291 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2224 |
7_89859230E081109 | |
|
- |
|
7 |
|
| p.Glu529LysfsX14 |
c.1585delG |
10 |
529 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 542 |
10  |
|
|
| p.Glu569IlefsX2 |
c.1705_1706delGA |
11 |
569 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 570 |
12  |
|
|
| p.Ala573ProfsX17 |
c.1716delA |
11 |
572 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 589 |
1  |
|
|
| p.Glu731LysfsX14 |
c.2191delG |
13 |
731 |
ATPase |
|
Small rearrangement |
Fr. |
Stop at 744 |
8  |
|
|
| p.Glu853GlyfsX39 |
c.2558delA |
15 |
853 |
ATPase |
|
Small rearrangement |
Fr. |
Stop at 891 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2376 |
SO_-403---G01450 | |
|
- |
|
71 |
|
| p.Glu859_Gln861del |
c.2576_2584del |
15 |
859 |
Helix-turn-helix |
|
Small rearrangement |
InF |
In frame del |
1  |
|
|
| p.Glu878AlafsX3 |
c.2633_2634delAG |
15 |
878 |
MSH3/MSH6 interaction |
|
Small rearrangement |
Fr. |
Stop at 880 |
7  |
|
|
| p.Glu881LysfsX11 |
c.2641delG |
16 |
881 |
MSH3/MSH6 interaction |
|
Small rearrangement |
Fr. |
Stop at 891 |
1  |
|
|