Table 3.
Genetic variants within the human GATA5 gene identified in familial BAV patients
| Position GATA5 gene | HGVS names | Protein position | Number of patients | rsSNP number (dbSNP) |
|---|---|---|---|---|
| Exon1 |
c.199 A > C |
p.Thr67Pro |
5 |
rs6142775 |
| Exon 2 |
c.609 C > T |
p.Asp203Asp |
7 |
rs41305803 |
| Exon 2 |
c.678 C > T |
p.Leu226Leu |
1 |
rs139428354 |
| IVS 4-14 |
c.826-14 G > A |
|
1 |
rs140408446 |
| Exon 4 |
c.852 G > A |
p.Lys284Lys |
8 |
rs6587239 |
| IVS 5-16 |
c.914-16 C > T |
|
1 |
New |
| Exon 5 |
c.981 G > C |
p.Ser327Ser |
7 |
rs6061243 |
| IVS 6-78 |
c.1039-78 C > G |
|
5 |
rs113912772 |
| Exon6 | c.1128 A > G | p.Pro376Pro | 11 | rs6061550 |