Skip to main content
Figure 2 | BMC Neurology

Figure 2

From: Novel loss-of-function PRRT2mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family

Figure 2

The function study with the mutated protein. A. Predicted protein structure: wild-type (upper) and mutant (lower) by I-TASSER. B. COS7 cells with cellular location of wild-type and mutant. C. Wild-type and mutant protein by western blot. Left, HEK293 cells transfected with GFP-tagged PRRT2 gave a ~90 kDa band; EGFP-fusion truncated mutant gave a ~45 kDa band. Right, HEK293 cells co-transfected with 2 μg wild-type plasmid and 2 μg, 1.5 μg, 1 μg or 0.5 μg mutant plasmid showed no difference in wild-type PRRT2 protein. EGFP, 27 kDa; GAPDH 37 kDa. D. No significant difference was seen in protein expression for co-transfected wild-type and mutant plasmids at different ratios.

Back to article page