Date | 2024-01-02 |
---|---|
Case | SampleCase |
Gene | ALAS2 |
Protein | P22557-4 |
Variant | A269T |
PTM Residue | PTM Type | Probability |
---|---|---|
355 | Methylarginine | 0.7 |
Method | Structure Id | Chain | PDB Template |
PDB Resolution |
Template Identity |
Transcript Identity |
AF Global Quality |
AF Residue Confidence |
Seq Start |
Seq End |
ddG Monomer |
ddG Cartesian |
Pathprox clinvar |
Pathprox clinvar AOC |
Pathprox COSMIC |
Pathprox COSMIC AOC |
PDB Pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
swiss | P22557-4_130_565_6hrh.1.A | B | 6hrh.1.A | 99.78 | 1.0 | 130 | 565 | 22.93 | 10.41 | 0.46 | 0.966 | 0.03 | 0.527 | ||||
swiss | P22557-4_130_565_6hrh.1.A | B | 6hrh.1.A | 99.78 | 1.0 | 130 | 565 | 0.06 | 0.797 | 0.02 | 0.494 | ||||||
modbase | ENSP00000379501.3_2 | A | 5qr1 | 99.0 | 1.0 | 127 | 565 | 17.04 | 11.29 | 0.5 | 0.958 | -0.01 | 0.471 | ||||
modbase | ENSP00000379501.3_3 | A | 5txt | 37.0 | 1.0 | 130 | 534 | 0.37 | 0.908 | 0.03 | 0.498 | ||||||
modbase | ENSP00000379501.3_4 | A | 2bwn | 50.0 | 1.0 | 131 | 527 | 2.39 | 2.81 | 0.29 | 0.874 | -0.02 | 0.479 | ||||
X-RAY | 5qqr | A | 1.46 | 1.0 | 130 | 565 | 0.0 | 0.784 | 0.07 | 0.507 | |||||||
X-RAY | 5qqr | B | 1.46 | 1.0 | 130 | 565 | 23.86 | 8.74 | 0.23 | 0.954 | 0.14 | 0.53 |
Method | Structure Id | Chain | PDB Template |
PDB Resolution |
Template Identity |
Transcript Identity |
AF Global Quality |
AF Residue Confidence |
Seq Start |
Seq End |
ddG Monomer |
ddG Cartesian |
Pathprox clinvar |
Pathprox clinvar AOC |
Pathprox COSMIC |
Pathprox COSMIC AOC |
PDB Pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
swiss | P22557-4_130_565_6hrh.1.A | B | 6hrh.1.A | 99.78 | 1.0 | 130 | 565 | 22.93 | 10.41 | 0.46 | 0.966 | 0.03 | 0.527 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
-2.46 | 39.00 | 2.57 | 34.00 | 0.97 | 0.97 | 0.46 | 0.85 | 0.30 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
-2.46 | 36.00 | -1.07 | 11.00 | 0.55 | 0.53 | 0.03 | 1.00 | 0.02 |
Method | Structure Id | Chain | PDB Template |
PDB Resolution |
Template Identity |
Transcript Identity |
AF Global Quality |
AF Residue Confidence |
Seq Start |
Seq End |
ddG Monomer |
ddG Cartesian |
Pathprox clinvar |
Pathprox clinvar AOC |
Pathprox COSMIC |
Pathprox COSMIC AOC |
PDB Pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
swiss | P22557-4_130_565_6hrh.1.A | B | 6hrh.1.A | 99.78 | 1.0 | 130 | 565 | 0.06 | 0.797 | 0.02 | 0.494 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
-3.39 | 32.00 | 2.38 | 15.00 | 0.85 | 0.80 | 0.06 | 0.99 | 0.03 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
-3.09 | 32.00 | -1.50 | 11.00 | 0.54 | 0.49 | 0.02 | 1.00 | 0.01 |
Method | Structure Id | Chain | PDB Template |
PDB Resolution |
Template Identity |
Transcript Identity |
AF Global Quality |
AF Residue Confidence |
Seq Start |
Seq End |
ddG Monomer |
ddG Cartesian |
Pathprox clinvar |
Pathprox clinvar AOC |
Pathprox COSMIC |
Pathprox COSMIC AOC |
PDB Pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
modbase | ENSP00000379501.3_2 | A | 5qr1 | 99.0 | 1.0 | 127 | 565 | 17.04 | 11.29 | 0.5 | 0.958 | -0.01 | 0.471 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
-2.14 | 38.00 | 2.67 | 33.00 | 0.97 | 0.96 | 0.50 | 0.87 | 0.30 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
-2.08 | 38.00 | -1.10 | 8.00 | 0.49 | 0.47 | -0.01 | 1.00 | 0.00 |
Method | Structure Id | Chain | PDB Template |
PDB Resolution |
Template Identity |
Transcript Identity |
AF Global Quality |
AF Residue Confidence |
Seq Start |
Seq End |
ddG Monomer |
ddG Cartesian |
Pathprox clinvar |
Pathprox clinvar AOC |
Pathprox COSMIC |
Pathprox COSMIC AOC |
PDB Pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
modbase | ENSP00000379501.3_3 | A | 5txt | 37.0 | 1.0 | 130 | 534 | 0.37 | 0.908 | 0.03 | 0.498 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
1.71 | 8.00 | 1.16 | 37.00 | 0.92 | 0.91 | 0.37 | 0.81 | 0.32 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
1.72 | 8.00 | -1.49 | 11.00 | 0.45 | 0.50 | 0.03 | 1.00 | 0.02 |
Method | Structure Id | Chain | PDB Template |
PDB Resolution |
Template Identity |
Transcript Identity |
AF Global Quality |
AF Residue Confidence |
Seq Start |
Seq End |
ddG Monomer |
ddG Cartesian |
Pathprox clinvar |
Pathprox clinvar AOC |
Pathprox COSMIC |
Pathprox COSMIC AOC |
PDB Pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
modbase | ENSP00000379501.3_4 | A | 2bwn | 50.0 | 1.0 | 131 | 527 | 2.39 | 2.81 | 0.29 | 0.874 | -0.02 | 0.479 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
-1.97 | 25.00 | 2.51 | 26.00 | 0.86 | 0.87 | 0.29 | 0.92 | 0.18 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
-1.93 | 27.00 | -1.61 | 9.00 | 0.44 | 0.48 | -0.02 | 1.00 | 0.00 |
Method | Structure Id | Chain | PDB Template |
PDB Resolution |
Template Identity |
Transcript Identity |
AF Global Quality |
AF Residue Confidence |
Seq Start |
Seq End |
ddG Monomer |
ddG Cartesian |
Pathprox clinvar |
Pathprox clinvar AOC |
Pathprox COSMIC |
Pathprox COSMIC AOC |
PDB Pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
X-RAY | 5qqr | A | 1.46 | 1.0 | 130 | 565 | 0.0 | 0.784 | 0.07 | 0.507 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
-3.70 | 36.00 | 1.97 | 15.00 | 0.83 | 0.78 | 0.00 | 0.98 | 0.02 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
-3.33 | 34.00 | -1.58 | 11.00 | 0.53 | 0.51 | 0.07 | 1.00 | 0.02 |
Method | Structure Id | Chain | PDB Template |
PDB Resolution |
Template Identity |
Transcript Identity |
AF Global Quality |
AF Residue Confidence |
Seq Start |
Seq End |
ddG Monomer |
ddG Cartesian |
Pathprox clinvar |
Pathprox clinvar AOC |
Pathprox COSMIC |
Pathprox COSMIC AOC |
PDB Pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
X-RAY | 5qqr | B | 1.46 | 1.0 | 130 | 565 | 23.86 | 8.74 | 0.23 | 0.954 | 0.14 | 0.53 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
-2.55 | 38.00 | 2.39 | 33.00 | 0.96 | 0.95 | 0.23 | 0.89 | 0.19 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
-2.48 | 36.00 | -1.20 | 11.00 | 0.54 | 0.53 | 0.14 | 1.00 | 0.05 |