Collaborative Mutation Database

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

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

Advanced Search Page

Example of Patient Entry

Contact: 

P.O. Box 13312, Pittsburgh, PA 15243

© 2014 by The RYR-1 Foundation. 

Phone:

412-529-1482

The information provided by The RYR-1 Foundation on this site or by any links to this site is for educational purposes only. It should not be interpreted as a recommendation for a specific treatment plan, product, medical, or healthcare provider. Use of this web site does not replace medical consultations with a qualified professional to meet the individual’s needs. In addition, medical information can change rapidly; therefore, some information may be out of date, and/or contain inaccuracies or typographical errors. Ultimately, if you have concerns about your health, particularly RYR-1 related diseases, you should consult your health care provider.