From: Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2genes in familial cases of bicuspid aortic valve
Genomic position (NG_007458.1) | Position NOTCH1gene | cDNA position (NM_017617.3) | Protein position | Number of patients | rsSNP number (dbSNP) |
---|---|---|---|---|---|
g.26979 T > C | Exon 3 | c.312 T > C | p.N104N | 6 | rs4489420 |
g.31330 C > T | Exon 5 | c.851C > T | p.P284L | 1 | New |
g.31331 G > A | Exon 5 | c.852 G > A | p.P284P | 4 | rs2229975 |
g.34650 T > C | IVS 9-43 | 3 | rs4880099 | ||
g.33525A > G | IVS 9 + 10 | 2 | rs11145767 | ||
g.33601 C > A/T | IVS 9 + 86 | 2 | rs113341997 | ||
g.33617C > T | IVS 9 + 102 | 1 | rs10781498 | ||
g.33620C > T | IVS 9 + 105 | 1 | rs11574887 | ||
g.34772C > T | Exon 10 | c.1635 C > T | p.D545D | 1 | rs11574889 |
g.35062A > G | IVS 11-9 | 3 | rs3124603 | ||
g.35367 G > A | IVS 11 + 63 | 1 | New | ||
g.35591C > T | IVS 12 + 94 | 1 | rs62579232 | ||
g.36347G > A | IVS 13 + 70 | 2 | rs3812609 | ||
g.37307 T > C | Exon 14 | c.2265 T > C | p.N755N | 4 | rs2229971 |
g.39978G > A | IVS 16-4 | 3 | rs3125001 | ||
g.40058C > T | Exon 17 | c.2664 C > T | p.H888H | 1 | rs61751548 |
g.40085C > T | Exon 17 | c.2691 C > T | p.A897A | 1 | rs11574895 |
g.42820 C > T | Exon 21 | c.3498 C > T | p.G1166G | 1 | New |
g.45953 C > G | Exon 26 | c.4856 C > G | p.Y1619X | 1 | New |
g.47532C > T | Exon 27 | c.5094 C > T | p.D1698D | 3 | rs10521 |
g.48831 T > C | IVS 30-43 | 2 | rs3124594 | ||
g.49928C > T | IVS 30-12 | 1 | rs11574908 | ||
g.51487 C > T | IVS 32-41 | 1 | New |