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).