| Date | 2024-01-02 |
|---|---|
| Case | SampleCase |
| Gene | RTEL1 |
| Protein | Q9NZ71-9 |
| Variant | G323D |
| PTM Residue | PTM Type | Probability |
|---|---|---|
| 320 | Ubiquitination | 0.6 |
| 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 | Q9NZ71-9_226_533_7o75.1.A | A | 7o75.1.A | 25.76 | 1.0 | 226 | 533 | 0.23 | 0.59 | -0.02 | 0.184 | ||||||
| modbase | ENSP00000322287.5_1 | A | 3crw | 30.0 | 1.0 | 244 | 492 | 0.35 | 0.87 | 0.01 | 0.185 |
| 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 | Q9NZ71-9_226_533_7o75.1.A | A | 7o75.1.A | 25.76 | 1.0 | 226 | 533 | 0.23 | 0.59 | -0.02 | 0.184 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| -2.80 | 27.00 | 1.59 | 12.00 | 0.69 | 0.59 | 0.23 | 0.98 | 0.10 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| -2.67 | 31.00 | -1.19 | 9.00 | 0.34 | 0.18 | -0.02 | 0.99 | 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 | ENSP00000322287.5_1 | A | 3crw | 30.0 | 1.0 | 244 | 492 | 0.35 | 0.87 | 0.01 | 0.185 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| -2.26 | 45.00 | -1.09 | 42.00 | 0.88 | 0.87 | 0.35 | 0.78 | 0.33 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| -1.54 | 32.00 | -2.54 | 28.00 | 0.27 | 0.19 | 0.01 | 0.86 | 0.14 |