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

Table 1

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

Nucleotide change	Exons	Aminoacid change	MH-causative mutation (http://www.emhg.org)	Unrelated patients; (𝑛)	Regions of the RYR1 gene investigated	dbSNP	MH; status	References
c.487C>T	6	R163C	Yes	1; 1	gDNA hot spot	rs118192161	MHS; n.d	[10]; [13]
c.625G>A; c.7007G>A	7; 43	E209K/; R2336H		1	cDNA complete	—; rs112563513	MHS	[36]
c.1021G>A	11	G341R	Yes	1	gDNA hot spot	rs121918592	MHS	[10]
c.1201C>T	12	R401C		2	cDNA hot spot	—	MHS	[16]
c.2797G>A; c.4024A>G; c.4055C>G	23; 28; 28	A933T/; S1342G/; A1352G		1	cDNA complete	rs148623597; rs34694816; rs112105381	MHS	[39]
c.4024A>G	28	S1342G		3	cDNA complete	rs34694816	MHS	[37, 39]
c.4024A>G; c.4055C>G; c.12861_12869dup; c.12881C>T	28; 28; 91; 91	S1342G/; A1352G/; T4288_A4290dup/; T4294M		1	cDNA complete	rs34694816; rs112105381; —; —	MHS	[39]
c.2797G>A; c.6478G>A	28; 39	S1342G/; G2160S		1	cDNA complete	rs34694816; rs143398211	MHS	[39]
c.7300G>A	45	G2434R	Yes	1	gDNA; hot spot	rs121918593	MHS	[10]
c.11947C>T	87	R3983C	Yes	1*	gDNA (106 exons)	—	n.d.	[15]
c.11947C>T; c.13513G>C	87; 92	R3983C/; D4505H	Yes; Yes	1*	gDNA (106 exons)	—	MHS	[15]
c.12959_12967dup c.13934G>A	91; 95	L4320_R4322dup/ R4645Q		1*	gDNA (106 exons)	—	n.d.	[14]
c.14473C>T	100	T4826I	Yes	1*	cDNA complete	rs121918595	n.d.	[38]

∗patients who experienced stress-induced MH events; n.d.: not determined. Nucleotide substitutions were numbered on the cDNA sequence (GenBank NM_000540.2); gDNA: genomic DNA.