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

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

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New Entry Submissions Page

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Database Search Page

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Advanced Search Page

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Example of Patient Entry

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