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