Exercise-Induced Rhabdomyolysis and Stress-Induced Malignant Hyperthermia Events, Association with Malignant Hyperthermia Susceptibility, and RYR1 Gene Sequence Variations

Table 2

In silico analysis of RYR1 sequence variants reported in patients who experienced ER and stress-induced MH events.

Sequence variant	PMut	SIFT	Polyphen-2
p.E209K	0.6598	0.29	Possibly damaging
p.R401C	0.8400	0.04	Probably damaging
p.A933T	0.5969	0.01	Probably damaging
p.G2160S	0.2159	0.49	Possibly damaging
p.R2336H	0.8377	0.00	Probably damaging
p.T4294M	0.8994	0.11	Benign
p.R4645Q	0.8261	0.00	Benign

Scores predicting pathological effect are in bold: PMut, > 0.5; SIFT ≤ 0.05. Polyphen-2 classifies the sequence variants as probably damaging, possibly damaging, or benign.