Table 4.
Genetic variants within the human TGFBR1 and TGFBR2 genes identified in familial BAV patients
| Gene | Position TGFBR1 TGFBR2 gene | HGVS names | Protein position | Number of patients | rsSNP number |
|---|---|---|---|---|---|
|
TGFBR1 |
Exon 1 |
c.68_76delCGGCGGCG |
p.Ala23Ala |
4 |
rs11466445 |
| |
IVS 7 + 24 |
c.1255 + 24 G > A |
|
2 |
rs334354 |
|
TGFBR2 |
IVS 3 + 7 |
c.338 + 7 A > G |
|
2 |
rs1155705 |
| |
IVS 5-4 |
c.455-4 T > A |
|
3 |
rs11466512 |
| Exon 4 | c.458delA | p.Lys153 | 8 | rs79375991 |
TGFBR1: NM_004612.2 NG_007461.1.
TGFBR2: NM_001024847.2 NG_007490.1.