Figure 1 Schematic of the OPA3 gene and OPA3 protein isoform b

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Figure 1 Schematic of the OPA3 gene and OPA3 protein isoform b Schematic of the OPA3 gene and OPA3 protein isoform b The OPA3 gene (NCBI RefSeq NG_013332.1; top figure), located in chromosome 19q13.32, contains 3 exons (1, 2, and 3; boxes containing exon numbers) and spans 57.4 kb. The coding regions of exons 2 and 3 and their exon-intron boundaries are highly similar and may have originated by segmental duplication.3OPA3 exons are alternatively spliced to generate 2 mRNA transcripts: transcript variant 2 (exon 1 plus exon 2 [NM_025136.3]) and transcript variant 1 (exon 1 plus exon 3 [NM_001017989.2]). Transcript variant 2 seems to be the predominant transcript in most tissues and encodes a 179 amino acid (AA) protein (OPA3 isoform b [NP_079412.1]; bottom figure). Transcript variant 1 encodes a 180 AA protein (OPA3 isoform a [NP_001017989]; not shown). OPA3 isoform b amino acids 1–48 are encoded by exon 1 (dark green) and amino acids 48–179 are encoded by exon 2 (light green). Its N-terminal region contains a putative mitochondrial targeting sequence in AAs 1–18 (as predicted by in silico analysis with MitoProt and TargetP) or 1–30 (as indicated by functional studies with deletion mutants). In silico analysis with MitoFates predicts a mitochondrial processing peptidase cleavage site (red arrow) and 2 TOM20 recognition motifs (AAs 8–12 and 48–52; red boxes). An additional mitochondrial sorting/cleavage signal at position 25–29 (purple box) has been proposed by some authors.3,8 The localizations of reported dominant and recessive mutations are shown in the figure (one-letter AA abbreviations are used for simplicity; blue boxes indicate mutations reported in the present study). p.Leu11Gln (p.L11Q) was homozygous in 2 siblings with optic atrophy, extrapyramidal signs including dystonia, and pyramidal signs or ataxia, and it was heterozygous in their mother with later-onset dystonia.30 No pathogenic mutations have been described in AAs 48-180 of OPA3 isoform a encoded by exon 3 (not shown). Alejandro Horga et al. Neurol Genet 2019;5:e322 Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.