Collaborative Mutation Database

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Patients with RYR-1 variants and myopathy want to know if they have RYR-1 Myopathy!

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Collaborative Mutation Database Overview:

  • 555 papers

  • 9 collaborators

  • 2,308 patients

  • 3,278 mutations (980 unique)​​

    • 712 missense​

    • 112 insertion/deletion

    • 36 intron/splicing

    • 32 nonsense

    • 28 silent

  • Clinical symptoms:

    • 1,005 Malignant Hyperthermia​

    • 287 RYR-1-Related Myopathy

    • 285 Central Core Disease

    • 50 Centronuclear Myopathy 

Online Database Screen Captures

Home Page

Papers tab (contains list of published papers where data has been extracted from into the database)

New Entry Submissions Page

Database Search Page

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Advanced Search Page

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Example of Patient Entry