Figure 1
From: Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies
De novo mutations identified in DYNC1H1 and RTP1. (a) The de novo mutation of DYNC1H1 was confirmed in trio E3 using Sanger sequencing. (b) Schematic representation of the DYNC1H1 protein and de novo mutations of DYNC1H1 identified in EE, ASD and ID. Protein changes are shown in black for ASD, green for ID and red for EE. (c) The de novo mutation of RTP1 was confirmed in trio E2 using Sanger sequencing. (d) Schematic representation of the RTP1 protein and de novo mutations of RTP1 identified in EE. Protein change identified in the present study is shown in red, and those identified in the previous study are shown in black.
