Table 3 Genetic variants within the human GATA5 gene identified in familial BAV patients
From: Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2genes in familial cases of bicuspid aortic valve
Position GATA5gene | 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 |