Beyond Hotspots: Functional Characterization of the Novel p.Asp2730Tyr Mutation in RYR1 Associated With Malignant Hyperthermia

The p.Asp2730Tyr mutation, situated beyond the established RYR1 hotspot regions, significantly alters calcium release dynamics related to MH. A comprehensive investigation into the structural conformations, functional assays, and in vivo mechanisms associated with this mutation could yield a more profound understanding of the molecular underpinnings of MH pathogenesis.