Home Structure Report Q9NZ71-8_3_755_7o75.1.A monomer
Date 2024-01-02
Case SampleCase
Gene RTEL1
Protein Q9NZ71-8
Variant G546D

MusiteDeep (PTMs) within 8.0A of G546

PTM Residue PTM Type Probability
543 Ubiquitination 0.6
586 N6-acetyllysine 0.6

Structure Summary

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 Q9NZ71-8_3_755_7o75.1.A A 7o75.1.A 26.56 1.0 3 755


Q9NZ71-8_3_755_7o75.1.A.A monomer - Structure Detail

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 Q9NZ71-8_3_755_7o75.1.A A 7o75.1.A 26.56 1.0 3 755

clinvar Results - Q9NZ71-8_3_755_7o75.1.A.A

Neutral Kz Neutral Kt Pathogenic Kz Pathogenic Kt ROC AUC PR AUC PathProx Neutral Constraint Pathogenic Constraint
0.00 0.00 1.43 13.00 0.00 0.00 0.00 0.00 0.10

COSMIC Results - Q9NZ71-8_3_755_7o75.1.A.A

Neutral Kz Neutral Kt Pathogenic Kz Pathogenic Kt ROC AUC PR AUC PathProx Neutral Constraint Pathogenic Constraint
0.00 0.00 0.78 20.00 0.00 0.00 0.00 0.00 0.01

Location of G546D in Q9NZ71-8_3_755_7o75.1.A.A (NGL Viewer)

Variant Distributions

gnomAD38
11 clinvar
26 COSMIC

Ripley's Univariate K

gnomAD38
Ripley's Univariate K graphic was not created for gnomAD38
clinvar
COSMIC

Ripley's Bivariate D

clinvar - gnomAD38
clinvar-gnomAD38 Bivariate D plot was not created
COSMIC - gnomAD38
COSMIC-gnomAD38 Bivariate D plot was not created

PathProx (clinvar - gnomAD38) Results

PathProx
No graphic was created
PathProx clinvar ROC
No graphic was created
PathProx clinvar PR
No graphic was created

PathProx (COSMIC - gnomAD38) Results

PathProx
No graphic was created
PathProx COSMIC ROC
No graphic was created
PathProx COSMIC PR
No graphic was created