Table 3

Summary of mutation results

Family (LMH)	Status	Mutation status					Segregation of mutation
Family (LMH)	Status	Exon	Nucleotide change	Amino acid change	+Conserved RYRI site?	Method of detection	Concordant family CCD	Concordant family MH
Mutation status †, ‡, §, ¶, and ** reported previously; -, no mutation detected.
Conserved in all species apart from bull frog; †³⁹; ‡²²; §⁴⁰; ¶^7,^22,³⁰; *³³.
+ RYR1 cDNA sequences for Human (P21817, gi: 19857096), Pig (P16960, gi: 1173335), Rabbit (P11716, gi: 134134), C. elegans (D45899, gi: 1871446), and Bull frog (D21070, gi: 1856972) were aligned using CLUSTAL W (1.81) to assess whether the mutations detected arose at evolutionary conserved sites in the RYR1 gene; conserved in all species apart from bull frog; CCD, central core disease; MH, malignant hyperthermia; LMH, Leeds Malignant Hyperthermia Unit.
31	MH/CCD	95	13913G>A‡	Gly4638Asp	Yes*	Sequencing	Yes	No
32	MH/core myopathy	-
33	MH/CCD	6	479A>G	Glu160Gly	Yes	SSCP, sequencing	Yes	Yes
34 (1P)	MH/CCD	95	13913G>A‡	Gly4638Asp	Yes*	Sequencing	Yes	No
34 (2P)	MH/CCD	95	13913G>A‡	Gly4638Asp	Yes*	Sequencing	Yes	No
36	MH/CCD	103	14814C>G	Ile4938Met	Yes	Sequencing	No	Yes
37	MH/core myopathy	-
38	MH/CCD	-
39	MH/CCD	-
63	MH/core myopathy	44, 103	7036G>A, 14817C>A	Val2346Met, Asp4939Glu	Yes	SSCP, sequencing	Yes, Yes	Yes, Yes
64	CCD	-
65	MH/core myopathy	44	7043A>G	Glu2348Gly	Yes	SSCP, sequencing	No	Yes
66	MH/core myopathy	17	1840C>T†	Arg614Cys	Yes	RFLP	No	Yes
67	MH/core myopathy	-
68	CCD	100	14440C>T	Leu4814Phe	Yes	Sequencing	Yes	No
69	MH/CCD	-
70	CCD	-
71	Core myopathy	-
72	MH/core myopathy	100	14471T>C	Leu4824Pro	Yes	Sequencing	Yes	Yes
73 (1P)	MH/CCD	46	7354C>T§	Arg2452Trp	Yes	SSCP, sequencing	No	Yes
73 (2P)	MH/CCD	46	7354C>T§	Arg2452Trp	Yes	SSCP, sequencing	No	Yes
74	CCD	101	14582G>A¶	Arg4861His	Yes	Sequencing	Yes	No
75	MH/core myopathy	46	7373G>A**	Arg2458His	Yes	SSCP	No	Yes