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
|
|