Table 2.
Genetic variants within the human NOTCH1 gene identified in familial BAV patients
| Genomic position (NG_007458.1) | Position NOTCH1 gene | 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 |