Figure 6
From: A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family
Mutant OPA1 protein analysis.
(A) Multiple-sequence alignment of OPA1 from different species. The red square indicates the location of the deletion and missense mutation we identified in OPA1 (B) Alpha helical structure of OPA1. The upper sequence is the control; the lower is the OPA1 with deletion/missense mutation. The arrow indicates the location of the deletion/missense mutation in OPA1. The region containing the deletion/missense mutation is predicted to form an alpha helical structure, which was absent from the wild type. (C)In secondary structure predication, the C-ter part (991–1010) forms an alpha helix. The model generated by I-TASSER suggests that this conserved helix (shown in orange), where the mutation is located, protrudes into a pocket. Interruption between this helix and the rest of the pocket will potentially affect the structural intact of the protein.
