Home Structure Report Q9NZ71-7_3_780_7o75.1.A monomer ENSP00000424307.2_1 monomer
Date 2024-01-02
Case SampleCase
Gene RTEL1
Protein Q9NZ71-7
Variant G570D

G570 Rate4Site Score ENST00000508582.7

Rate4Site Score QQ-Interval Std MSA
Normalized: -0.08 -0.31, 0.03 0.31 78.00/100

MusiteDeep (PTMs) within 8.0A of G570

PTM Residue PTM Type Probability
567 Ubiquitination 0.6
621 Phosphoserine 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 Q9NZ71-7_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


Q9NZ71-7_3_780_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 Q9NZ71-7_3_780_7o75.1.A A 7o75.1.A 26.32 1.0 3 780 0.16 0.518 -0.01 0.264

clinvar Results - Q9NZ71-7_3_780_7o75.1.A.A

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

COSMIC Results - Q9NZ71-7_3_780_7o75.1.A.A

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

Location of G570D in Q9NZ71-7_3_780_7o75.1.A.A (NGL Viewer)

Variant Distributions

115 gnomAD38
11 clinvar
26 COSMIC

Ripley's Univariate K

gnomAD38
clinvar
COSMIC

Ripley's Bivariate D

clinvar - gnomAD38
COSMIC - gnomAD38

PathProx (clinvar - gnomAD38) Results

PathProx
PathProx clinvar ROC
PathProx clinvar PR

PathProx (COSMIC - gnomAD38) Results

PathProx
PathProx COSMIC ROC
PathProx COSMIC PR


ENSP00000424307.2_1.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
modbase ENSP00000424307.2_1 A 4a15 21.0 1.0 21 771 0.49 0.546 -0.01 0.207

clinvar Results - ENSP00000424307.2_1.A

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

COSMIC Results - ENSP00000424307.2_1.A

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

Location of G570D in ENSP00000424307.2_1.A (NGL Viewer)

Variant Distributions

112 gnomAD38
9 clinvar
26 COSMIC

Ripley's Univariate K

gnomAD38
clinvar
COSMIC

Ripley's Bivariate D

clinvar - gnomAD38
COSMIC - gnomAD38

PathProx (clinvar - gnomAD38) Results

PathProx
PathProx clinvar ROC
PathProx clinvar PR

PathProx (COSMIC - gnomAD38) Results

PathProx
PathProx COSMIC ROC
PathProx COSMIC PR