A210G mutation
The role of Ala210Gly mutation, in exon 6, is reported here for the first time and has been identified as a missense mutation in the T-box conserved TBX5 gene. Structure stability prediction showed that this mutation leads to protein instability and it is predicted to be deleterious based on PolyPhen-2 analysis. In this study this mutation is associated with abnormalities in the atrial and ventricular septal defect (AVSD), severe failure of Tricuspid regurgitation (sever TR) and right and left ventricular hypertrophy (LVH, RVH) (Table 3). Also, DynaMut analysis showed this mutation can effect interatomic interactions of the A210G mutant residue and can result in destabilization and increase protein flexibility (Table 3 and Figure 4B).