. Author manuscript; available in PMC: 2017 Mar 1.

Published in final edited form as: Hum Mutat. 2016 Jan 19;37(3):308–314. doi: 10.1002/humu.22947

Table 3.

Functional Consequences of Mutations Identified in MESP1

Q9BRJ9	Inheritance	Present in Controls	Relative Transcriptional Activation Compared to Wildtype MESP1 (Stdev)
Q9BRJ9	Inheritance	Present in Controls	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)