Table 2.
Overview of Mutation-Specific Biochemical Defects
| PPP2CA Variant | Protein Detected | Activity (%) | A Binding (%) | Alpha 4 Binding | Demethylation | B55α Binding (%) | B56α Binding (%) | B56β Binding (%) | B56γ1 Binding (%) | B56δ Binding (%) | B56ε Binding (%) | PR72 Binding (%) | STRN3 Binding (%) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| WT Cα | + | 100 | 100 | NA | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 |
| p.Asp88Gly | + | 3∗∗∗∗ | 37∗∗∗∗ | NA | 1379∗∗ | 0∗∗∗∗ | 17∗∗∗∗ | 20∗∗∗∗ | 88 | 195 | 41∗∗ | 18∗∗ | 52∗∗ |
| p.Gln122His | + | 40∗∗∗ | 78 | NA | 183∗ | 176 | 228∗∗ | 177 | 135 | 285 | 254∗ | 118 | 384∗ |
| p.Tyr127Cys | + | 11∗∗∗∗ | 82 | NA | 1109∗ | 108 | 15∗∗ | 27∗ | 33∗ | 18∗∗ | 14∗∗∗∗ | 31∗ | 273 |
| p.Asp131His | + | 211∗ | 48∗∗∗∗ | NA | 200 | 185 | 0∗∗∗∗ | 0∗∗∗∗ | 0∗∗∗∗ | 5∗∗∗∗ | 0∗∗∗∗ | 149 | 296 |
| p.His191Arg | + | 26∗∗∗∗ | 102 | NA | 218 | 199 | 99 | 73 | 57 | 14∗∗∗∗ | 34 | 65 | 652∗ |
| p.Asp223Val | + | 101 | 83 | NA | 243∗ | 239 | 165 | 160 | 254 | 180 | 163∗ | 479 | 72 |
| p.Asp233His | + | 61∗ | 81 | NA | 138 | 129 | 97 | 105 | 111 | 105 | 147∗∗ | 108 | 142 |
| p.Tyr265Cys | + | 19∗∗ | 30∗∗∗ | NA | 1046∗ | 1∗∗∗∗ | 6∗∗∗ | 3∗∗∗∗ | 24∗ | 42∗ | 7∗∗∗∗ | 2∗∗∗∗ | 8∗∗∗∗ |
| p.Arg295∗ | + | 48∗∗ | 36∗∗ | NA | ND | 0∗∗∗∗ | 0∗∗∗∗ | 0∗∗∗∗ | 0∗∗∗∗ | 18∗∗∗ | 0∗∗∗∗∗ | 0∗∗∗∗ | 235 |
| p.Phe308dup | + | 10∗∗∗ | 62∗ | NA | ND | 15∗∗∗ | 64 | 166 | 69 | 206 | 198 | 5∗∗∗∗ | 372∗ |
| p.Gly60Val | ± | ND | ND | NA | ND | ND | ND | ND | ND | ND | ND | ND | ND |
| p.Gln125∗ | − | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND |
| p.Phe146fs | − | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND |
| p.Arg214∗ | + | 0∗∗∗∗ | 0∗∗∗∗ | yes | ND | 0∗∗∗∗ | 0∗∗∗∗ | 0∗∗∗∗ | 0∗∗∗∗ | 0∗∗∗∗ | 0∗∗∗∗ | 0∗∗∗∗ | NA |
Abbreviations are as follows: ND, not determinable; NA, not analyzed; +, present; ±, detected at very low level; −, not detected; ∗p ≤ 0.05; ∗p ≤ 0.01; ∗∗∗p ≤ 0.001; ∗∗∗∗p ≤ 0.0001.