Table 1. Properties of variant ShhN proteins.
| Protein | Mutation (human) | Autoprocessing in vivo | Pax-7 repression, nM* | HNF3-β induction, nM* | Dissociation constant (KD) for Ptc-CTD, nM | Relative activity at 50 nM in C3H10T1/2 assay |
|---|---|---|---|---|---|---|
| WT | ShhN (aa 24–197) | + | ≈4 | ≈20 | 0.48 | 1.0 |
| GR | G31R | + | ≈4 | ≈20 | 0.8 | 1.7 |
| DV | D88V | +/– | 40–50 | ≈80 | 1.58 | 0.07 |
| QH | Q100H | + | ≈5 | <40 | 0.5 | 1.4 |
| NK | N115K | + | >10 | ND | 0.86 | 0.2 |
| WG | W117G | – | 400–500 | ND | 1.5 | 0.03 |
| WR | W117R | – | >500 | ND | 0.7 | 0.13 |
| EQ | E188Q | + | ≈5 | <40 | 0.62 | 1.9 |
| N-11 | (aa 35–197) | ND | ≈9 | 45–90 | 1.1 | 0.06 |
ND, not determined, aa, amino acids
*
Minimum concentration required