OPA3 Back

optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)

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NCBI Description of OPA3
The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene.

Community Annotation of OPA3 Add / Edit OPA3: 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

OPA3 is highly significantly mutated in
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OPA3 is significantly mutated in
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OPA3 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 OPA3