Table 1.

β Myosin heavy chain (β MHC) gene mutations identified in study

Exon	Nucleotide substitution	Mutation*	Amino acid charge †	β MHC functional domain
7	GCT→ACT	Ala196Thr	0	Active site
7	CCG→CTG	Pro211Leu	0	Active site
9	CGA→CAA	Arg249Gln	−1	Active site
13	CGG→CAG	Arg403Gln	−1	Actin binding
13	GTG→TTG	Val404Leu	0	Actin binding
13	GTC→ATC	Val411Ile	0	Actin binding
14	CGC→TGC	Arg453Cys	−1	Active site
19	GGG→AGG	Gly716Arg	+1	Light chain binding
22	CGC→TGC	Arg870Cys	−1	Head–rod junction
23	CTG→GTG	Leu908Val	0	Head–rod junction
23	GAG→AAG	Glu930Lys	+2	Head–rod junction

*These missense mutations are designated by the normal amino acid residue, its locus, and the mutant residue.

†Values are changes in the net charge of the substituted amino acid, based on charges of the amino acid at pH 7.