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.

Quality control

Please take note, that RYR1 is now included in the European molecular quality network (EMQN). For more details see here.

Characterisation of sequence variants

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.

Variants unlikely to cause malignant hypethermia

The EMHG will (in future) compile a list of variants unlikely to cause malignant hyperthermia.