| Date | 2024-01-02 |
|---|---|
| Case | SampleCase |
| Gene | NAGA |
| Protein | P17050 |
| Variant | D136N |
| Rate4Site Score | QQ-Interval | Std | MSA | |
|---|---|---|---|---|
| Normalized: | -0.20 | -0.39, 0.02 | 0.23 | 100.00/100 |
| Cosmis Score | pValue | cossyn | source | |
|---|---|---|---|---|
| Normalized: | 3.13 | 1.00 | -0.83 | PDB |
| PTM Residue | PTM Type | Probability |
|---|---|---|
| 124 | N-linked_glycosylation | 0.9 |
| Binding Site Probability |
|---|
| 0.2 |
| 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 | P17050_19_404_1ktb.1.B | A | 1ktb.1.B | 74.87 | 1.0 | 19 | 404 | -0.67 | -0.08 | -0.01 | 0.243 | ||||||
| swiss | P17050_19_404_1ktb.1.B | A | 1ktb.1.B | 74.87 | 1.0 | 19 | 404 | -0.01 | 0.243 | ||||||||
| modbase | ENSP00000379680.3_1 | A | 4do4 | 100.0 | 1.0 | 18 | 411 | -0.66 | 0.37 | 0.11 | 0.364 | ||||||
| alphafold | AF-P17050-F1 | A | 0.0 | 1.0 | 96.27 | 98.65 | 1 | 411 | -2.36 | 0.78 | -0.01 | 0.259 | |||||
| X-RAY | 4do6 | A | 1.6 | 1.0 | 18 | 405 | -0.01 | 0.252 | |||||||||
| X-RAY | 4do4 | B | 1.4 | 1.0 | 18 | 411 | -0.69 | 0.26 | -0.01 | 0.251 |
| 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 | P17050_19_404_1ktb.1.B | A | 1ktb.1.B | 74.87 | 1.0 | 19 | 404 | -0.67 | -0.08 | -0.01 | 0.243 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| 1.38 | 5.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.97 | 0.00 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| 1.07 | 17.00 | -1.41 | 8.00 | 0.36 | 0.24 | -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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| swiss | P17050_19_404_1ktb.1.B | A | 1ktb.1.B | 74.87 | 1.0 | 19 | 404 | -0.01 | 0.243 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| -2.52 | 41.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.98 | 0.00 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| -2.62 | 41.00 | -2.08 | 8.00 | 0.36 | 0.24 | -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 | ENSP00000379680.3_1 | A | 4do4 | 100.0 | 1.0 | 18 | 411 | -0.66 | 0.37 | 0.11 | 0.364 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| 1.49 | 17.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.97 | 0.00 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| 1.37 | 17.00 | -1.24 | 24.00 | 0.62 | 0.36 | 0.11 | 0.92 | 0.12 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| alphafold | AF-P17050-F1 | A | 0.0 | 1.0 | 96.27 | 98.65 | 1 | 411 | -2.36 | 0.78 | -0.01 | 0.259 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| 2.21 | 17.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.97 | 0.00 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| 1.94 | 17.00 | -1.44 | 8.00 | 0.35 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| X-RAY | 4do6 | A | 1.6 | 1.0 | 18 | 405 | -0.01 | 0.252 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| -2.31 | 39.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.98 | 0.00 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| -2.44 | 39.00 | -2.06 | 8.00 | 0.36 | 0.25 | -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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| X-RAY | 4do4 | B | 1.4 | 1.0 | 18 | 411 | -0.69 | 0.26 | -0.01 | 0.251 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| 1.31 | 17.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.97 | 0.00 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| 1.17 | 17.00 | -1.39 | 8.00 | 0.35 | 0.25 | -0.01 | 1.00 | 0.00 |