Table 3.
Q9BRJ9 | Inheritance | Present in Controls | Relative Transcriptional Activation Compared to Wildtype MESP1 (Stdev)
|
|
---|---|---|---|---|
Luciferase Reporter Assay | Mammalian Two-Hybrid | |||
p.P27_D29dup | Paternal | N | 0.77 (+/−0.21) | 1.02 (+/−0.13) |
p.G70D | N/A | N | 0.92 (+/−0.24) | 1.19 (+/−0.21) |
p.E104K | Maternal | N | 0.08 (+/−0.04)* | 0.56 (+/−0.08)* |
p.L120P | De Novo | N | 0.06 (+/−0.03)* | 0.32 (+/−0.06)* |
p.L147Pfs*9 | N/A | N | 0.03 (+/−0.02)* | 0.05 (+/−0.01)* |
p.D168G | N/A | Y | 0.97 (+/−0.19) | 0.53 (+/−0.11)* |
p.K268N | Maternal | N | 1.17 (+/−0.18) | 0.90 (+/−0.26) |
Significant (p<0.005)