RYR1 Back

ryanodine receptor 1 (skeletal)

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NCBI Description of RYR1
This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described.

Community Annotation of RYR1 Add / Edit RYR1: 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

RYR1 is highly significantly mutated in
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RYR1 is significantly mutated in
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RYR1 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 RYR1