Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm

Table 3 Characteristics of individuals with ACTA2 mutations

Family patient	Age (y)/sex	Exon	Nucleotide	Amino acid change	Inheritance	Clinical characteristics
Family patient	Age (y)/sex	Exon	change (GRCh37/hg19)	Amino acid change	Inheritance	Clinical characteristics
Family 1
I:1	44/male	4	chr10:90703573 T > A	p.N117I	Familial	TAAD, stroke
I:1	44/male	4	cDNA.825A > T	p.N117I	Familial	TAAD, stroke
II:1	39/male	4	chr10:90703573 T > A	P.N117I	Familial	TAAD, AAAD,hypertension,
II:1	39/male	4	cDNA.825A > T	P.N117I	Familial	TAAD, AAAD,hypertension,
Family 2
I:2	56/female	6	chr10:90695071A > C	p.L348R	Familial	TAAD
I:2	56/female	6	cDNA.1518 T > G	p.L348R	Familial	TAAD
II:1	38/male	6	chr10:90695071A > C	p.L348R	Familial	TAAD, AAAD
II:1	38/male	6	cDNA.1518 T > G	p.L348R	Familial	TAAD, AAAD
III:1	12/male	6	chr10:90695071A > C	p.L348R	Familial	no symptom
III:1	12/male	6	cDNA.1518 T > G	p.L348R	Familial	no symptom
Family 3
II:1	31/male	9	chr10:90701100A > T	p.Y168N	De novo	TAAD,BAV, AS
II:1	31/male	9	cDNA.977 T > A	p.Y168N	De novo	TAAD,BAV, AS

TAAD thoracic aortic aneurysms and/or dissection, AAAD abdominal aortic aneurysms and/or dissection, BAV bicuspid aortic valve, AS aortic stenosis. Roman numerals indicate the generation (I, II or III) and Arabic numbers (1, 2, or 3) indicate the birth order of siblings