Table 4 Genetic variants within the human TGFBR1 and TGFBR2 genes identified in familial BAV patients
From: Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2genes in familial cases of bicuspid aortic valve
Gene | Position TGFBR1 TGFBR2gene | 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 |