| Date | 2024-01-02 |
|---|---|
| Case | SampleCase |
| Gene | SMYD5 |
| Protein | Q6GMV2 |
| Variant | A57E |
| Rate4Site Score | QQ-Interval | Std | MSA | |
|---|---|---|---|---|
| Normalized: | 0.43 | 0.22, 0.73 | 0.48 | 90.00/100 |
| Cosmis Score | pValue | cossyn | source | |
|---|---|---|---|---|
| Normalized: | 0.16 | 0.67 | -0.60 | AF2 |
| PTM Residue | PTM Type | Probability |
|---|---|---|
| 70 | S-palmitoyl_cysteine | 0.6 |
| 73 | S-palmitoyl_cysteine | 0.6 |
| 305 | O-linked_glycosylation | 0.6 |
| Binding Site Probability |
|---|
| 0.0 |
| 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 | ENSP00000374152.4_1 | A | 3qww | 33.0 | 1.0 | 19 | 410 | 0.05 | 0.316 | ||||||||
| alphafold | AF-Q6GMV2-F1 | A | 0.0 | 1.0 | 88.38 | 97.48 | 1 | 418 | 27.1 | 7.34 | 0.01 | 0.31 |
| 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 | ENSP00000374152.4_1 | A | 3qww | 33.0 | 1.0 | 19 | 410 | 0.05 | 0.316 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| -1.21 | 15.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.94 | 0.00 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| -1.28 | 15.00 | -1.61 | 10.00 | 0.36 | 0.32 | 0.05 | 0.98 | 0.04 |
| 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-Q6GMV2-F1 | A | 0.0 | 1.0 | 88.38 | 97.48 | 1 | 418 | 27.1 | 7.34 | 0.01 | 0.31 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| 1.98 | 37.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.95 | 0.00 |
| Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
|---|---|---|---|---|---|---|---|---|
| 1.78 | 37.00 | -1.96 | 12.00 | 0.37 | 0.31 | 0.01 | 0.99 | 0.02 |