Table II.

Mutations Found in TNNI2, TNNT3, TPM2, and MYH3 in DA1 and DA2B (SHS)

DA type	Gene	cDNA alterationa	predicted protein alteration	Total # kindreds	Published kindreds	New kindreds	References/Notes
DA1	TNNI2	c.496_498delGAG	p.E167del	1	-	1	Reported in DA2B only
		c.521G>A	p.R174Q	1	-	1	Reported in DA2B only
		c.523_525delAAG	p.K176del	1	-	1	Reported in DA2B only
	TNNT3b	c.187C>T	p.R63C	2	-	2	Reported in DA2B only
		c.188G>A	p.R63H	2	-	2	Reported in DA2B only
	TPM2c	c.271C>G	p.R91G	1	1	-	Sung et al. 2003a
		c.289G>A	p.E97K	1	-	1	novel, de novo
		c.397C>T	p.R133W	1	-	1	Reported in DA2B only
	MYH3	c.551G>C	p.G184A	2	-	2	novel
		c.700G>A	p.A234T	1	-	1	Reported in DA2B only
		c.1309T>A	p.F437I	1	1	-	Alvarado et al. 2011
		c.1512G>T	p.K504N	1	-	1	novel
			Total =	15	2	13
DA1/DA2B	TNNI2	c.523_525delAAG	p.K176del	2	2		Jiang et al. 2006; Kimber et al. 2006
			Total =	2	2	0
DA2B	TNNI2	c.466C>T	p.R156*d	5	2	-	Sung et al. 2003a
					-	3
		c.484A>G	p.R162G	1	-	1	novel
		c.496_498delGAG	p.E167del	1	1	-	Shrimpton & Hoo 2006
		c.502A>G	p.K168E	1	-	1	novel
		c.521G>A	p.R174Q	3	2	-	Sung et al. 2003a
					-	1
		c.525G>T	p.K175N	1	-	1	novel, de novo
	TNNT3b	c.187C>A	p.R63S	1	-	1	novel, same aa as R63C/R63H
		c.187C>T	p.R63C	2	-	2	Zhao et al. 2011
		c.188G>A	p.R63H	5	1	-	Sung et al. 2003b
					-	4
	TPM2c	c.58G>C	p.D20H	1	-	1	novel
		c.140_148del9	p.Q47_K49del	1	-	1	novel, de novo
		c.299A>G	p.D100G	1	-	1	novel, de novo
		c.314G>C	p.R105P	1	-	1	novel
		c.397C>T	p.R133W	6	1	-	Tajsharghi et al. 2007
					-	5
		c.433G>A	p.E145K	1	-	1	novel, de novo
		c.782A>G	p.Y261C	1	-	1	novel, de novo
	MYH3e	c.700G>A	p.A234T	1	1	-	Tajsharghi et al. 2008
		c.737G>C	p.G246A	1	-	1	novel, de novo
		c.782C>T	p.S261F	1	1	-	Toydemir et al. 2006
		c.1019T>A	p.L340Q	1	-	1	novel
		c.1123G>A	p.E375K	1	1	-	Toydemir et al. 2006
		c.1385A>G	p.D462G	1	1	-	Tajsharghi et al. 2008
		c.1397T>G	p.F466C	1	-	1	novel, de novo
		c.1549G>T	p.D517Y	1	1	-	Toydemir et al. 2006
		c.2306G>T	p.G769V	1	1	-	Toydemir et al. 2006
		c.2503_2505delTTC	p.F835del	1	-	1	novel; de novo in one generation, inherited in the next generation
		c.2512A>G	p.K838E	1	1	-	Toydemir et al. 2006
		c.2521_2523delCTC	p.L841del	2	2	-	Toydemir et al. 2006
		c.4865A>C	p.D1622A	1	1	-	Toydemir et al. 2006
			Total = Overall totals =	46 63	17 21	29 42

^aNumbered with the A of the ATG start codon = 1

^bMultiple isoforms, following the convention of Sung et al. (2003b) NM_006757

^cMultiple isoforms, using NM_003289

^dp.R156* was previously named R156ter

^eT178I was originally reported in Toydemir et al. in both DA2A and DA2B kindreds. However, upon collecting additional longitudinal clinical information, it is now clear that two of the cases originally classified as DA2B fit more appropriately in the DA2A classification.