| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Tyr66X |
c.198C>G |
1 |
66 |
Mismatch binding |
|
Small rearrangement |
Tv |
C->G |
3  |
|
|
| p.Tyr563X |
c.1689T>G |
11 |
563 |
Lever |
|
Small rearrangement |
Tv |
T->G |
8  |
|
|
| p.Tyr570X |
c.1710T>G |
11 |
570 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
T->G |
4  |
|
|
| p.Tyr656X |
c.1968C>G |
12 |
656 |
ATPase |
|
Small rearrangement |
Tv |
C->G |
4  |
|
|
| p.Tyr757X |
c.2271C>G |
14 |
757 |
ATPase |
|
Small rearrangement |
Tv |
C->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2518 |
SO_1554---G05092 | |
|
- |
|
71 |
|