Table 1.

Human titin mutations and their effects. Abbreviations: ¹DCM – dilated cardiomyopathy; ²HCM- hypertrophic cardiomyopathy; ³TMD – Tibial Muscular Dystrophy; ⁴LGMD – Limb Girdle Muscular Dystrophy; ⁵ – base pair position of mutation in genomic sequence of human titin (GenBank Accession no. AJ277892).

Disease	Country	Heart	Skeletal muscle	Titin exon	AJ277892 Position5	Sarcomere position	Mutation type	Cell level effects	Base change	Ref
DCM1	Japanese	yes	no	3	17750	Z-line (Z repeat 1)	1 base change	decreased T cap binding affinity	G to A	32
HCM2	Japanese	yes	no	14	34029	Z-line (Z repeat 7)	2 base transversion	increased α-actinin binding affinity	G to T	33
DCM	Japanese	yes	no	14	34038	Z-line (Z repeat 7)	1 base change	decreased α-actinin binding affinity	C to T	32
DCM	Native American	yes	no	18	37048	Z-line to I-band	1 base change		T to C	19, 31
DCM	Japanese	yes	no	49	79690	N2B unique	1 base change	increased FHL2 binding affinity	C to A	34
DCM	Japanese	yes	no	49	80313	N2B unique	1 base change, stop codon	decreased FHL2 binding affinity		32
DCM	Chinese	yes	no	49	82126	N2B unique	1 base change		G to A	35
DCM	Japanese	yes	no	49	82324	N2B unique	1 base change		G to A	32
DCM	Australian	yes	no	326	245037	A-band	2 base insertion, stop codon		AT insert	31
DCM	Australian	yes	no	335	267662	A-band	1 base change, stop codon		del G	36
Edstrom myopathy	Swedish	no	yes	358	286133	A-band, kinase	1 base change	reduced nbr1 binding affinity	C to T	37
Fatal cardiomyopathy	Sudanese	yes	yes	358	289385	M-line (Mex 1)	8 base deletion, stop codon	disrupted M line complex	del 8 bp	38
DCM	Japanese	yes	no	358	287772	M-line (Mex 1)	1 base change	FHL2 binding region	G to A	34
Fatal cardiomyopathy	Moroccan	yes	yes	360	291297	M-line (Mex 3)	1 base deletion, stop codon	disrupted M line complex	del A	38
TMD3	French C	no	yes	362	292298	M-line (Mex 5)	1 base deletion, stop codon		del T	39
TMD/LGMD4	Finnish maj	no	yes	363	293269−293279	M-line (Mex 6)	11 bp deletion/insertion		del/ins	40
TMD	Belgian	no	yes	363	293329	M-line (Mex 6)	1 base change		T to A	41
TMD	French A	no	yes	363	293356	M-line (Mex 6)	1 base change	reduced calpain 3 binding	T to C	39,40
TMD	Spanish	no	yes	363	293378	M-line (Mex 6)	I base deletion, stop codon		del A	39
TMD	French B	no	yes	363	293379	M-line (Mex 6)	1 base change		C to T	39