OPA1 (O60313) variants and mutations

OPA1 (also known as O60313) is a human protein-coding gene encoding a dynamin-like GTPase OPA1, mitochondrial protein. A mitochondrial dynamin-related GTPase that fuses inner mitochondrial membranes and shapes cristae. By maintaining mitochondrial architecture and respiratory-chain function, it supports cell energy production, and OPA1 variants cause inherited optic-atrophy syndromes. This analysis covers 1,395 OPA1 variants and mutations. Of these, 52% have computational variant effect predictions. Disease context includes Autosomal dominant optic atrophy, classic type, Behr syndrome, and optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and n. Example OPA1 variants include M1I, M1L, and W2*.

Variant analysis overview

Gene: OPA1
Protein: O60313
UniProt accession: O60313
Organism: Homo sapiens
Variants analyzed: 1395
Variant scope: all variants
Completed: 2026-06-12

Variant and mutation evidence

Variant composition: 1,222 unspecified-consequence records; 1 natural variant; 88 missense variants; 68 synonymous variants; 2 splice-region variants; 6 frameshift variants; 2 in-frame deletions; 1 in-frame insertions; 2 stop-gained variants; 3 substitution
Prediction scores: 721 variants have prediction scores (52% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: Autosomal dominant optic atrophy, classic type, Behr syndrome, optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and n, autosomal dominant optic atrophy, classic form, mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type), optic atrophy, neurodegenerative disease, genetic disorder, Retinal dystrophy, mitochondrial disease, auditory neuropathy, open-angle glaucoma.

Protein structure and variant hotspots

Protein features: 1 transmembrane segments; 1 domains; 14 binding sites; 1 post-translational modification sites.
Structural context: 398 variants have structural context.
PTM context: 2 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, PharmGKB, MaveDB, LitVar.

Notable OPA1 variants

Examples include M1I, M1L, W2*, W2L, W2S, W2C, R3*, R3Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

OPA1 analysis run — OPA1 (1,395 variants) — completed 2026-06-12