| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Tyr43Cys |
c.128A>G |
1 |
43 |
Mismatch binding |
|
Small rearrangement |
Ts |
A->G |
4  |
|
|
| p.Tyr656Cys |
c.1967A>G |
12 |
656 |
ATPase |
|
Small rearrangement |
Ts |
A->G |
4  |
|
|
| p.Tyr856Cys |
c.2567A>G |
15 |
856 |
Helix-turn-helix |
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 1081 |
33_PSL 440__06-175 | |
|
- |
|
33 |
|