Date | 2024-01-02 |
---|---|
Case | SampleCase |
Gene | RTEL1 |
Protein | Q9NZ71-7 |
Variant | G570D |
Rate4Site Score | QQ-Interval | Std | MSA | |
---|---|---|---|---|
Normalized: | -0.08 | -0.31, 0.03 | 0.31 | 78.00/100 |
PTM Residue | PTM Type | Probability |
---|---|---|
567 | Ubiquitination | 0.6 |
621 | Phosphoserine | 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 | Q9NZ71-7_3_780_7o75.1.A | A | 7o75.1.A | 26.32 | 1.0 | 3 | 780 | 0.16 | 0.518 | -0.01 | 0.264 | ||||||
modbase | ENSP00000424307.2_1 | A | 4a15 | 21.0 | 1.0 | 21 | 771 | 0.49 | 0.546 | -0.01 | 0.207 |
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 | Q9NZ71-7_3_780_7o75.1.A | A | 7o75.1.A | 26.32 | 1.0 | 3 | 780 | 0.16 | 0.518 | -0.01 | 0.264 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
2.52 | 5.00 | 2.02 | 12.00 | 0.73 | 0.52 | 0.16 | 0.99 | 0.06 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
1.77 | 8.00 | -1.02 | 9.00 | 0.47 | 0.26 | -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 | ENSP00000424307.2_1 | A | 4a15 | 21.0 | 1.0 | 21 | 771 | 0.49 | 0.546 | -0.01 | 0.207 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
2.06 | 8.00 | 1.68 | 20.00 | 0.71 | 0.55 | 0.49 | 0.98 | 0.19 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
2.00 | 9.00 | -1.67 | 10.00 | 0.40 | 0.21 | -0.01 | 1.00 | 0.00 |