Genetics in Malignant Hyperthermia
There are several options to choose from. First there is a list of all RYR1 mutations, which have been functionally tested and thus can be used as MH diagnostic mutations. Then there is a link to another site, where the full RYR1 sequence can 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.
Please take note, that RYR1 is now included in the European molecular quality network (EMQN). For more details see here.
Characterisation of sequence variants
The classification / characterisation of sequence variants is part of the diagnostic guidelines and can be found here.
The EMHG has consented on a scoring matrix for classification of pathogenicity of genetic variants in malignant hyperthermia susceptibility
If you do have detailed information on sequence variants of yet unknown significance you can report this variant here.
Diagnostic MH mutations
Detailed genetic information
The EMHG is providing a website with a list of known RYR1 variants. There is an option to search for specific genomic or coding sequences, as well as for specific positions (genomic, coding, amino acid).
Due to the website update, this functionality is currently not available.