Figure 1.

The novel missense mutation p.Tyr1188His in desmoplakin affects its homodimerization properties

(A) Schematic of DSP displaying the functional domains.

(B) Alignment of the protein sequence-of-interest for the indicated species. The height of the orange and red bars above each amino acid indicates the degree of conservation.

(C) Overview of the constructs used to assess the binding properties between wild-type (WT) and mutant DSP molecules.

(D) Representative immunoblots for FLAG, GFP, and vinculin (VIN) after co-immunoprecipitation of DSP-WT::FLAG in HEK293 cells transfected with the indicated conditions.

(A–C) The novel mutation is either indicated in red or with an arrow. IF, intermediate filament; IP, immunoprecipitation.