| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ile633AsnfsX11 |
c.1897dup |
12 |
633 |
ATPase |
|
Small rearrangement |
|
Stop at 643 |
3  |
|
|
| p.Ile667HisfsX9 |
c.1998dup |
12 |
667 |
ATP binding |
|
Small rearrangement |
|
Stop at 675 |
1  |
|
|
| p.Ile746_Ile746dup |
c.2235_2237dup |
14 |
746 |
ATPase |
|
Small rearrangement |
|
In frame ins |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2492 |
SO_-3349---G03721 | |
|
- |
|
71 |
|
| p.Ile766SerfsX22 |
c.2293_2296dup |
14 |
766 |
ATPase |
|
Small rearrangement |
|
Stop at 787 |
2  |
|
|
| p.Ile883AsnfsX16 |
c.2647dup |
16 |
883 |
MSH3/MSH6 interaction |
|
Small rearrangement |
|
Stop at 898 |
14  |
|
|