Table 3.TBX2.5 nonsynonymous variations identified in 57 patients with VSD, 39 patients with ASD and 50 healthy control Table 3.TBX2.5 nonsynonymous variations identified in 57 patients with VSD, 39 patients with ASD and 50 healthy control Table 3.TBX2.5 nonsynonymous variations identified in 57 patients with VSD, 39 patients with ASD and 50 healthy control Table 3.TBX2.5 nonsynonymous variations identified in 57 patients with VSD, 39 patients with ASD and 50 healthy control Table 3.TBX2.5 nonsynonymous variations identified in 57 patients with VSD, 39 patients with ASD and 50 healthy control
Number 1 1 2 3
Location E6 E6 E4 E2
Nucleotide changes c.629C>G c.629C>G c331G>T c.44T>G
Amino acid change p.A210G p.A210G p.D111Y p.L15Q
Type of Cardiac defects ASD & PS ASD & PS Large ASD& VSD , PDA AVSD, TR, LVH, RVH
Family history N/A N/A Yes Yes
Mutation novel/report Novel Novel 9 Novel
Stability by Stability by Stability by Stability by Stability by
SVM Confidence Score Decrease -1.00 Decrease -1.00 Decrease -0.260 Decrease -0.911
Neural Network methods Confidence Score Decrease -0.9 Decrease -0.9 Decrease -0.550 Decrease -0.917
detal delta G Score Decrease -1.1 Decrease -1.1 Decrease -0.639 Decrease -1.3
PolyPhen-2 Result PolyPhen-2 Result PolyPhen-2 Result PolyPhen-2 Result PolyPhen-2 Result
HumDiv Score: Sensitivity: specificity Benign 0.037 0.94 0.82 Benign 0.037 0.94 0.82 Probably damaging 1.00 0.00 1.00 Possibly damaging 0.79 0.85 0.93
HumVar: Score: Sensitivity: specificity Benign 0.027 0.94 0.58 Probably damaging 1.00 0.18 0.98 Probably damaging 1.00 0.18 0.98 Possibly damaging 0.5 0.82 0.81
DynaMut analysis DynaMut analysis DynaMut analysis DynaMut analysis DynaMut analysis
Stability ΔΔG Destabilizing -0.296 kcal/mol Destabilizing -0.296 kcal/mol Destabilizing -0.260 kcal/mol
Not available in PDB
NMA Based Predictions ΔΔG ENCoM Destabilizing -0.135 kcal/mol Destabilizing -0.135 kcal/mol Destabilizing -0.157 kcal/mol
Flexibility ΔΔSVib ENCoM Increase 0.169 kcal.mol-1.K-1 Increase 0.169 kcal.mol-1.K-1 Increase 0.196 kcal.mol-1.K-1