Table 2.

Nonsynonymous coding mutations in five FDC/IDC genes

Gene/ Proband	Exon*	UCSC Coordinates	Nucleotide Change†	Amino Acid Change‡	Conservation§	Disease associated?	Diagnosis FDC‖ or IDC¶	Segregation#	Previously reported	Reference
A. MYBPC3, myosin binding protein C
A.1	1	chr11:47330762	G-2068-C	Gly5Arg	C, M, R, D	Possibly	FDC		HCM	16
A.2	5	chr11:47327951	A-4879-C	Lys202Gln	All	Possibly	IDC
A.3	7	chr11:47325991	C-6839-T	Arg272Cys	C, M, R, D	Possibly	FDC		DCM	17
A.4	17	chr11:47320861	G-11969-A	Gly490Arg	All	Possibly	FDC		HCM	16, 18
A.5	18	chr11:47320244	T-12586-C	Met555Thr	C	Possibly	FDC
A.6	19	chr11:47319348	A-13482-G	Asp605Gly	All	Possibly	FDC
A.7	25	chr11:47315623	G-17207-A	Ala833Thr	All	Likely	FDC		HCM	19
A.8	25	chr11:47315623	G-17207-A	Ala833Thr	All	Likely	FDC	Yes (2)	HCM	19
A.9	25	chr11:47315623	G-17207-A	Ala833Thr	All	Likely	IDC		HCM	19
A.10**	26	chr11:47314013	C-18817-A	Pro910Thr	C	Possibly	IDC
A.11	29	chr11:47311683	G-21147-A	splice site (29+1)	All	Possibly	IDC
A.12††	31	chr11: 47310940	G-21890-T	splice site (31+1)	All	Possibly	FDC
A.13††	33	chr11:47310234	G-22596-A	Gly1260Asp	All	Possibly	FDC
A.14	33	chr11:47310222	G-22608-T	Cys1264Phe	C, M, R, D	Likely	FDC	Yes (2)
B. MYH6, α-myosin heavy chain
B.1‡‡	9	chr14:22942471	T-6852-A	Ile275Asn	C. M, R	Possibly	FDC		DCM	20
B.2§§	14	chr14:22937966	C-11357-T	Arg568Cys	Yes	Possibly	IDC
B.3	22	chr14:22932486	G-16837-T	Ala1004Ser	All except T	Likely	FDC		DCM	20
B.4	22	chr14:22932486	G-16837-T	Ala1004Ser	All except T	Likely	IDC		DCM	20
B.5	22	chr14:22932486	G-16837-T	Ala1004Ser	All except T	Likely	IDC		DCM	20
B.6	25	chr14:22929309	C-20014-T	Arg1177Trp	All	Possibly	FDC
B.7‖‖	29	chr14:22927245	G-22078-C	Ala1440Pro	All except T	Likely	FDC	Yes (2)
B.8‡‡	30	chr14:22926827	G-22496-A	Arg1502Gln	All	Possibly	FDC			20
B.9	35	chr14:22923580	G-25743-A	Asp1826Asn	C	Likely	FDC	Yes (2)
		chr14:22923579	G-25744-A		C
B.10¶¶	35	chr14:22923580	G-25743-A	Asp1826Asn	C	Likely	IDC
		chr14:22923579	G-25744-A		C
B.11	36	chr14:22921578	C-27745-T	Arg1899Cys	Yes	Unlikely	FDC	No
C. TPM1, tropomyosin 1
C.1	1	chr15:61122126	G-3244-T	Lys15Asn	All	Likely	FDC	Yes (3)
C.2	1	chr15:61122148	G-3266-C	Glu23Gln	All	Possibly	IDC
C.3	1	chr15:61127874	G-8992-T	Ser16Ile	C, M, R, D	Possibly	FDC
C.4	2	chr15: 61136271	T-17389-C	Ile92Thr	All	Likely	FDC	Yes (2)
C.5	8	chr15:61141840	G-22958-A	Ala239Thr	All	Possibly	FDC
C.6‖##	9	chr15:61143373	C-24491-T	Ala277Val	All	Possibly	IDC
D. TNNC1, troponin C
D.1***	1	chr3:52463059	T-2040-C	Tyr5His	All	Possibly	IDC
D.2	4	chr3:52460808	G-4291-A	Met103Ile	All	Likely	FDC	Yes (2)
D.3**	5	chr3:52460466	C-4633-A	Asp145Glu	All	Possibly	IDC		HCM	21
D.4	5	chr3:52460459	A-4640-G	Ile148Val	All	Possibly	FDC
E. TNNI3, cardiac troponin I
E.1	7	chr19:60357220	TNNI3-A-5697-G	Asp180Gly	All	Possibly	FDC
E.2	7	chr19:60357220	TNNI3-A-5697-G	Asp180Gly	All	Possibly	IDC

^*Exon number is per refseq.

^†Nucleotide numbering is per the SeattleSNPs resequencing service

^‡Amino acid numbering is per previous publications

^§Human sequence was assessed in chimp (C), mouse (M), rat (R), dog (D), tetraodon (T), fugu, and zebrafish

^‖Probable FDC was considered FDC

^¶possible FDC was considered IDC (see Methods)

^#Segregation means multiple affected carrying mutation, the number affected are given within parentheses; entry left blank because of insufficient clinical data and/or DNA specimens to assess segregation

^**A.10 and D.3 are found in the same proband

^††A.12 and A.13 are found in the same proband

^‡‡B.1 and B.8 are found in same proband. This proband also carries a TNNT2 Lys210del mutation

^§§Caucasian of Hispanic descent

^‖‖African-American

^¶¶This proband also carries a LMNA G474_D475insQ mutation and a TCAP Pro141Ala mutation

^##Proband carries TNNT2 Glu244Asp mutation

^***Proband carries possibly disease causing MYH7 Arg1045Cys mutation.