| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ile192GlufsX10 |
c.574_610del |
3 |
192 |
Connector |
|
Small rearrangement |
Fr. |
Stop at 201 |
2  |
|
|
| p.Tyr238ArgfsX7 |
c.711_714delTTAT |
4 |
237 |
Connector |
|
Small rearrangement |
Fr. |
Stop at 244 |
7  |
|
|
| p.Ile685MetfsX25 |
c.2055delA |
13 |
685 |
ATP binding |
|
Small rearrangement |
Fr. |
Stop at 709 |
2  |
|
|
| p.Ile745X |
c.2233_2243del |
14 |
745 |
ATPase |
|
Small rearrangement |
Fr. |
Stop at 745 |
3  |
|
|
| p.Ile746del |
c.2235_2237delAAT |
14 |
745 |
ATPase |
|
Small rearrangement |
InF |
In frame del |
1  |
|
|
| p.Ile747MetfsX16 |
c.2241delA |
14 |
747 |
ATPase |
|
Small rearrangement |
Fr. |
Stop at 762 |
1  |
|
|
| p.Ile841X |
c.2521delA |
15 |
841 |
ATPase |
|
Small rearrangement |
Fr. |
Stop at 841 |
4  |
|
|
| p.Ile883_Gln885delinsMet |
c.2649_2654del |
16 |
883 |
MSH3/MSH6 interaction |
|
Small rearrangement |
InF |
In frame del |
5  |
|
|