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

Table 4

The documented LMNA mutations in DCM.

Exon	Amino acid change	Local structure	Reported times	Population report group
1	p.Lys97Glu	Coil1b	1	Italian [30]
1	p.Arg101Pro	Coil1b	1	American [31]
1	p.Glu111	Coil1b	1	Italian [30]
1	p.Arg89Leu	Coil1b	2	American [31, 52]
1	p.Leu85Arg	Coil1b	1	American [53]
1	p.Arg60Gly	Coil1b	1	American [53]
1	p.Arg89Leu	Coil1b	1	American [52]
1	p.Glu82Lys	Coil1b	1	Chinese [54]
2	p.Arg166Pro	Coil1b	1	American [31]
2	p.Glu161Lys	Coil1b	1	German [26]
3	p.Arg190Trp	Coil1b	7	Spanish [28], Italian [30], American [31], German [32], English [33], Finland [34], Korea [28], and Chinese [this study]
3	p.Arg189Trp	Coil1b	1	Italy [12]
3	p.Glu203Val	Coil1b	1	German [26]
3	p.Arg190Gln	Coil1b	2	German [26] and American [31]
3	p.Glu203Lys	Coil1b	1	American [31]
3	p.Ile210Ser	Coil1b	1	American [31]
3	p.Asn195Lys	Coil1b	1	Dutch [55]
3	p.Glu203Gly	Coil1b	1	American [53]
3	p.Asn195Lys	Coil1b	1	American [53]
3	p.Asp192Gly	Coil1b	1	English [33]
4	p.Gly232Val	L12	1	Chinese (Taipei) [56]
4	p.Lys219Thr	L12	1	German [26]
4	p.Leu215Pro	L12	1	American [31]
4	p.Lys219Thr	L12	1	Italy [57]
4	p.His222Pro	L12	1	French [45]
4	p.Arg225	L12	2	American [31] and Dutch [55]
4	p.Gln234	L12	1	American [31]
6	p.Arg349Leu	Coil2b	1	Spanish [28]
6	p.Glu317Lys	Coil2b	1	Italian [30]
6	p.Ala318Thr	Coil2b	1	American [31]
7	p.Arg388His	Tail	1	American [31]
7	p.Arg377His	Tail	1	American [52]
8	p.Arg471His	Tail	1	American [31]
8	p.Tyr481	Tail	1	English [33]
10	p.Ser573Leu	Tail	1	American [52]
10	p.Arg541Ser	Tail	1	English [33]
11	p.Arg644Cys	Tail	2	German [26] and Chinese [58]
11	p.Arg654	Tail	1	American [31]

Stop codon.