Fig. 2: Genetic and Structure Analysis of OPA1 Mutations.
From: Contrasting pathophysiological mechanisms of OPA1 mutations in autosomal dominant optic atrophy
A Sequencing electropherograms showing the c.1034 G > A OPA1 missense mutation in family 1. B, C Location of the c.1034 G > A OPA1 missense mutation and c.1305+2delGT OPA1 deletion and its impact on transcript processing. D–F The OPA1 protein structure was predicted using Alphafold2 derived for wild-type (WT) (D), c.1034 G > A (E), and c.1305+2delGT (F) transcripts. The amino acid residues that were predicted to be skipped as a result of the c.1305+2delGT OPA1 deletion have been highlighted in yellow on the WT protein. G Protein secondary structure elements were monitored throughout the simulation with alpha-helices in orange and beta-strands in blue. H, I Stability and flexibility of the OPA1 proteins over the course of 100 ns. H Root mean square deviation (RMSD). I Root mean square fluctuation (RMSF).
