Effects of Remimazolam and Propofol on Ca²⁺ Regulation by Ryanodine Receptor 1 with Malignant Hyperthermia Mutation

Table 2

Deleteriousness of transfected mutant ryanodine receptor 1 (RYR1). All three RYR1 mutations had high CADD scores (>20) and were predicted to be “disease causing” by MutationTaster and “possibly damaging” by PolyPhen-2.

Position	AA change	CADD	MT (probability score)	PP2 (probability score)
RYR1 chr19: 38933074 C>T	p.Thr84Met	23.7	Disease causing (0.747)	Possibly damaging (1.000)
RYR1 chr19: 38990282 C>A	p.Ser2345Arg	23.1	Disease causing (0.914)	Possibly damaging (0.954)
RYR1 chr19: 39075616 G>A	p.Ala4894Thr	29.8	Disease causing (0.999)	Possibly damaging (0.999)

chr: chromosome; AA: amino acid; CADD: Combined Annotation-Dependent Depletion; MT: MutationTaster; PP2: PolyPhen-2.