Summary of the dominant negative effect of ADA2 variants on WT ADA2 dimer secretion, and on intracellular and extracellular ADA2 enzymatic activity
| Variant . | Dimer secretion . | Intracellular ADA2 enzymatic activity . | Extracellular ADA2 enzymatic activity . |
|---|---|---|---|
| G47A | − | + | + |
| G47R | − | + | + |
| G47V | + | + | + |
| G47W | − | − | − |
| R169Q | ++ | + | ++ |
| E328K | − | + | + |
| F355L | − | − | − |
| T360A | − | − | − |
| N370K | − | − | − |
| H424N | ++ | ++ | ++ |
| Y453C | ++ | ++ | ++ |
| Variant . | Dimer secretion . | Intracellular ADA2 enzymatic activity . | Extracellular ADA2 enzymatic activity . |
|---|---|---|---|
| G47A | − | + | + |
| G47R | − | + | + |
| G47V | + | + | + |
| G47W | − | − | − |
| R169Q | ++ | + | ++ |
| E328K | − | + | + |
| F355L | − | − | − |
| T360A | − | − | − |
| N370K | − | − | − |
| H424N | ++ | ++ | ++ |
| Y453C | ++ | ++ | ++ |
−: no dominant negative effect; +: noticeable dominant negative effect; ++: pronounced dominant negative effect.