OPA1 Back

optic atrophy 1 (autosomal dominant)

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NCBI Description of OPA1
This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene.

Community Annotation of OPA1 Add / Edit OPA1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

OPA1 is highly significantly mutated in
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OPA1 is significantly mutated in
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OPA1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for OPA1