Table 1. Summary of the intrinsic properties of ACTC mutant proteins related to the development of cardiomyopathies in humans.
Tm | DNase-I | Nucleotide Release | Cc | Pi Release | ||
ACTC | (°C) | IC50(nM) | Slow Rate (ms−1) | Fast Rate (ms−1) | (µM) | (s−1×10−2) |
WT | 56.8±1.3 | 13.2 | 1.12±2.64 | 17.47±7.40 | 0.28±0.13 | 1.24±0.02 |
E99K | 68.8±0.35* | 25.7 | 2.24±2.18 | 17.73±5.76 | 1.67±0.43* | 1.25±0.02 |
56.7±0.23† | ||||||
Y166C | 54.1±1.9 | 24.6 | 1.62±0.61 | 16.01±4.56 | 2.67±0.45* | 0.38±0.02* |
A230V | 53.9±1.9 | 15.3 | 2.02±0.42 | 16.25±4.16 | 2.11±1.23 | 1.51±0.24 |
M305L | 55.5±1.7 | 17.0 | 2.21±1.94 | 18.23±1.61 | 2.21±1.78 | 2.43±0.03* |
R312H | 53.6±2.0 | 36.7 | 8.87±5.52 | 181.8±140.7** | 4.75±0.27* | 2.59±0.05* |
A331P | 57.4±0.23 | 26.0 | 3.63±4.21 | 22.75±9.05 | 2.95±1.70 | 0.88±0.06* |
E361G | 55.6±1.7 | 16.8 | 2.06±1.35 | 18.11±2.97 | 0.58±0.48 | 0.66±0.05* |
labeled with tetramethylrhodamine.
p<0.05 by t–test.
p<0.15 by t–test.
All values are the average of at least three replicates, showing the standard deviation of each.