Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy

Table 3

The documented TNNI3 mutations in HCM.

Exon	Amino acid change	Local structure	Reported times	Population report group
3	p.Arg21Cys	TNNC binding domain	1	American [37] and Norwegian [35]
3	p.Arg13Cys	TNNC binding domain	1	Chinese [38]
4	p.Lys36Gln	TNNC binding domain	1	English [39]
5	p.Pro82Ser	TNNT2 binding domain	1	American [40]
7	p.Arg141Gln	First actin binding domain	2	American [41] and French [27]
7	p.Arg145Gly	First actin binding domain	8	American [2], Korean [42, 43], and Chinese [this study]
7	p.Arg145Gln	First actin binding domain	1	Japanese [44]
7	p.Asn185Lys	TNNC binding domain	1	English [39]
7	p.Ala157Val	TNNC binding domain	3	French [27], Norwegian [35], and Dutch [45]
7	p.Arg162Pro	TNNC binding domain	1	French [27]
7	p.Arg162Trp	TNNC binding domain	1	Japanese [44]
7	p.Arg162Gln	TNNC binding domain	2	American [41] and English [46]
7	p.Ser166Phe	TNNC binding domain	5	American [41] and Dutch [45]
7	p.Arg170Gln	TNNC binding domain	1	English [47]
7	p.Ser166Phe	TNNC binding domain	1	German [48]
7	p.Lys164Thr	TNNC binding domain	1	Dutch [49]
7	p.Asp180Gly	TNNC binding domain	1	Dutch [49]
7	p.Lys178del	TNNC binding domain	1	Dutch [49]
8	p.Arg186Gln	TNNC binding domain	1	French [27] and English [46]
8	p.Asp196Asn	Second actin binding domain	3	French [27], American [50], and Norwegian [35]
8	p.Gly203Ser	Second actin binding domain	1	Japanese [44]
8	p.Met201Thr	Second actin binding domain	1	Dutch [49]
8	p.Arg204Cys	Second actin binding domain	1	American [51]
8	p.Lys206Gln	Second actin binding domain	1	Japanese [44]
8	p.Glu209Ala	Second actin binding domain	5	Dutch [49]
8	p.Ile195Met	Second actin binding domain	1	American [51]