Genetics in Malignant Hyperthermia
In this section you find a list of all causative mutations in the Ryanodine receptor gene (RYR1). You can also switch the view to get a list of all known mutations in RYR1. To see the mutation in the gene-context just click on the mutation.
The second menu option leads to a search form, where you can search for specific positions and sequences of RYR1. You can search for a position number of the coding sequence (cDNA), the protein sequence or a specific exon of RYR1.
There is also an option to submit novel, yet not listed mutations in RYR1.