ACTN3 Back

actinin, alpha 3

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NCBI Description of ACTN3
This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants. The reference genome contains the non-coding allele. The non-functional allele of this gene is associated with elite athlete status.

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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

ACTN3 is highly significantly mutated in
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ACTN3 is significantly mutated in
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ACTN3 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 ACTN3