| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Leu173Arg |
c.518T>G |
3 |
173 |
Connector |
|
Small rearrangement |
Tv |
T->G |
1  |
|
|
| p.Leu187Arg |
c.560T>G |
3 |
187 |
Connector |
|
Small rearrangement |
Tv |
T->G |
6  |
|
|
| p.Leu241Arg |
c.722T>G |
4 |
241 |
Connector |
|
Small rearrangement |
Tv |
T->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 1039 |
31_H281_1_A | |
|
- |
|
31 |
|
| p.Leu849Arg |
c.2546T>G |
15 |
849 |
ATPase |
|
Small rearrangement |
Tv |
T->G |
4  |
|
|