Presentation is loading. Please wait.

Presentation is loading. Please wait.

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

Published byἸάειρος Δαμασκηνός Modified over 5 years ago

Similar presentations

Presentation on theme: "Figure 1 Schematic of the OPA3 gene and OPA3 protein isoform b"— Presentation transcript:

1 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_ ; 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_ ]) and transcript variant 1 (exon 1 plus exon 3 [NM_ ]). Transcript variant 2 seems to be the predominant transcript in most tissues and encodes a 179 amino acid (AA) protein (OPA3 isoform b [NP_ ]; bottom figure). Transcript variant 1 encodes a 180 AA protein (OPA3 isoform a [NP_ ]; 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 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.

Download ppt "Figure 1 Schematic of the OPA3 gene and OPA3 protein isoform b"

Similar presentations

Figure Pedigrees of the SCA42 families identified in this study

Figure Pedigrees of the SCA42 families identified in this study
Figure 2 ERG amplitude reduction in the follow-up study

Figure 2 ERG amplitude reduction in the follow-up study
Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal.

Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal.
Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)

Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)
Figure Genomic and facial overview of the microduplications overlapping the GRIN2D gene found in the retrieved patients Genomic and facial overview of.

Figure Genomic and facial overview of the microduplications overlapping the GRIN2D gene found in the retrieved patients Genomic and facial overview of.
Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.

Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.
Figure 3 Pedigree of familial idiopathic transverse myelitis

Figure 3 Pedigree of familial idiopathic transverse myelitis
Sequence analyses and evolutionary conservation of the CLDN10 gene and the identified CLDN10 variants. Sequence analyses and evolutionary conservation.

Sequence analyses and evolutionary conservation of the CLDN10 gene and the identified CLDN10 variants. Sequence analyses and evolutionary conservation.
Figure 2 Needle biopsy of the left vastus lateralis

Figure 2 Needle biopsy of the left vastus lateralis
Figure Cerebral MRI and molecular and enzymatic analysis

Figure Cerebral MRI and molecular and enzymatic analysis
Figure 1 Hierarchical clustering (HCL) outcome of all tested samples with the expression profile of the case report set as unknown Hierarchical clustering.

Figure 1 Hierarchical clustering (HCL) outcome of all tested samples with the expression profile of the case report set as unknown Hierarchical clustering.
HOPX: The Unusual Homeodomain-Containing Protein

HOPX: The Unusual Homeodomain-Containing Protein
Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.

Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.
Figure Pedigree of the family

Figure Pedigree of the family
Figure Revised Niemann-Pick disease type C (NP-C) diagnostic algorithm for the use of biomarkers and genetic testing Revised Niemann-Pick disease type.

Figure Revised Niemann-Pick disease type C (NP-C) diagnostic algorithm for the use of biomarkers and genetic testing Revised Niemann-Pick disease type.
Volume 20, Issue 12, Pages (June 2010)

Volume 20, Issue 12, Pages (June 2010)
Figure 3 Transcripts of the splicing mutation (c

Figure 3 Transcripts of the splicing mutation (c
Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3  Tarja Joensuu, Riikka Hämäläinen, Bo Yuan, Cheryl Johnson, Saara.

Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3  Tarja Joensuu, Riikka Hämäläinen, Bo Yuan, Cheryl Johnson, Saara.
Modeling Autism by SHANK Gene Mutations in Mice

Modeling Autism by SHANK Gene Mutations in Mice
Figure 2 The p.Lys33Gln mutation eliminates a conserved salt bridge interaction of the matrix network The p.Lys33Gln mutation eliminates a conserved salt.

Figure 2 The p.Lys33Gln mutation eliminates a conserved salt bridge interaction of the matrix network The p.Lys33Gln mutation eliminates a conserved salt.

Similar presentations

Ads by Google