| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Met1? |
c.1delA |
1 |
1 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 63 |
4  |
|
|
| p.Met152CysfsX22 |
c.454delA |
3 |
152 |
Connector |
|
Small rearrangement |
Fr. |
Stop at 173 |
8  |
|
|
| p.Met672TyrfsX20 |
c.2014_2033del |
13 |
672 |
ATP binding |
|
Small rearrangement |
Fr. |
Stop at 691 |
1  |
|
|
| p.Met672_Val712delinsIle |
c.2016_2135del |
13 |
672 |
ATP binding |
|
Small rearrangement |
InF |
In frame del |
1  |
|
|
| p.Met779SerfsX33 |
c.2336delT |
14 |
779 |
ATPase |
|
Small rearrangement |
Fr. |
Stop at 811 |
1  |
|
|