| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gly162Arg |
c.484G>A |
3 |
162 |
Connector |
|
Small rearrangement |
Ts |
G->A |
1  |
|
|
| p.Gly164Arg |
c.490G>A |
3 |
164 |
Connector |
|
Small rearrangement |
Ts |
G->A |
1  |
|
|
| p.Gly211Arg |
c.631G>A |
3 |
211 |
Connector |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2521 |
SO_-3758---G05163 | |
|
- |
|
71 |
|
| p.Gly587Arg |
c.1759G>C |
11-12 |
587 |
Lever |
|
Small rearrangement |
Tv |
G->C |
9  |
|
|
| p.Gly713Arg |
c.2137G>C |
13 |
713 |
ATPase |
|
Small rearrangement |
Tv |
G->C |
1  |
|
|
| p.Gly751Arg |
c.2251G>A |
14 |
751 |
ATPase |
|
Small rearrangement |
Ts |
G->A |
2  |
|
|