From: Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm
Family patient | Age (y)/sex | Exon | Nucleotide | Amino acid change | Inheritance | Clinical characteristics |
---|---|---|---|---|---|---|
change (GRCh37/hg19) | ||||||
Family 1 | Â | Â | Â | Â | Â | Â |
I:1 | 44/male | 4 | chr10:90703573 T > A | p.N117I | Familial | TAAD, stroke |
cDNA.825A > T | ||||||
II:1 | 39/male | 4 | chr10:90703573 T > A | P.N117I | Familial | TAAD, AAAD,hypertension, |
cDNA.825A > T | ||||||
Family 2 | Â | Â | Â | Â | Â | Â |
I:2 | 56/female | 6 | chr10:90695071A > C | p.L348R | Familial | TAAD |
cDNA.1518 T > G | ||||||
II:1 | 38/male | 6 | chr10:90695071A > C | p.L348R | Familial | TAAD, AAAD |
cDNA.1518 T > G | ||||||
III:1 | 12/male | 6 | chr10:90695071A > C | p.L348R | Familial | no symptom |
cDNA.1518 T > G | ||||||
Family 3 | Â | Â | Â | Â | Â | Â |
II:1 | 31/male | 9 | chr10:90701100A > T | p.Y168N | De novo | TAAD,BAV, AS |
cDNA.977 T > A |