| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gly669Val |
c.2006G>T |
12-13 |
669 |
ATP binding |
|
Small rearrangement |
Tv |
G->T |
8  |
|
|
| p.Gly692Val |
c.2075G>T |
13 |
692 |
ATPase |
|
Small rearrangement |
Tv |
G->T |
3  |
|
|