Table 2.

Gene Mutations in Patients with Childhood-Onset Cardiac Hypertrophy and Presumed Sporadic Cardiomyopathy.^*

Gene	Mutation	Sequence	Consequence	Charge	Previously Reported Hypertrophic Cardiomyopathy Mutations
MYH7	Lys146Asn	G→T	Missense	−1	Yes
MYH7	Val606Met	G→A	Missense	0	Yes
MYH7	Arg663His	G→A	Missense	0	Yes
MYH7	Arg719Gln	G→A	Missense	−1	Yes
MYH7	Val763Met	G→A	Missense	0	No
MYH7	Arg787Cys	C→T	Missense	−1	No
MYH7	Leu908Val	C→G	Missense	0	Yes
MYH7	Glu924Lys	G→A	Missense	+2	Yes
MYH7	Leu1414Met	C→A	Missense	0	No
MYBPC3	Gly278Glu	G→A	Missense	−1	Yes
MYBPC3	Gly490Arg	G→A	Missense	+1	Yes
MYBPC3	Arg495Gly	C→G	Missense	−1	No
MYBPC3	Arg502Trp†	C→T	Missense	−1	Yes
MYBPC3	Arg502Gln	G→A	Missense	−1	Yes
MYBPC3	Asp605Asn	G→A	Missense	+ 1	Yes
MYBPC3	Arg943ter	C→T	Truncation	NA	Yes
MYBPC3	Thr1028Ser	C→G	Missense	0	No
MYBPC3	IVS31+2t→g‡	t→g	Truncation	NA	No
MYBPC3	Gly1248Arg	G→a	Missense	+ 1	No
TNNT2	Arg92Gln	G→A	Missense	−1	Yes
TNNT2	Glu96del	Δ GAG	Codon 96 deleted	+ 1	No
TNNI3	Lys178del	Δ AAG	Codon 178 deleted	−1	Yes
ACTC	His90Tyr	C→T	Missense	−1	No
ACTC	Arg97Cys	C→T	Missense	−1	No
PRKAG2	His530Arg	A→G	Missense	0	No

^*Mutations are denoted by normally encoded amino acid residue number, substituted amino acid or termination signal (ter), or altered splice signal (intervening sequence). Sequence refers to nucleotide substitution, and consequence refers to the mutational effects on protein. Charge is the altered charge by the mutant amino acid change. NA denotes not available. Three children had compound mutations: MYH7 Arg663His and MYH7 Val763Met, MYBPC3 Thr1028Ser and MYBPC3 IVS31+2t→g, and MYH7 Arg787Cys and ACTC Arg97Cys.

^†This mutation was identified in three children.

^‡This mutation was identified in two children.