Home Structure Report Q9NZ71-9_226_533_7o75.1.A monomer ENSP00000322287.5_1 monomer
Date 2024-01-02
Case SampleCase
Gene RTEL1
Protein Q9NZ71-9
Variant G323D

MusiteDeep (PTMs) within 8.0A of G323

PTM Residue PTM Type Probability
320 Ubiquitination 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 Q9NZ71-9_226_533_7o75.1.A A 7o75.1.A 25.76 1.0 226 533 0.23 0.59 -0.02 0.184
modbase ENSP00000322287.5_1 A 3crw 30.0 1.0 244 492 0.35 0.87 0.01 0.185


Q9NZ71-9_226_533_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 Q9NZ71-9_226_533_7o75.1.A A 7o75.1.A 25.76 1.0 226 533 0.23 0.59 -0.02 0.184

clinvar Results - Q9NZ71-9_226_533_7o75.1.A.A

Neutral Kz Neutral Kt Pathogenic Kz Pathogenic Kt ROC AUC PR AUC PathProx Neutral Constraint Pathogenic Constraint
-2.80 27.00 1.59 12.00 0.69 0.59 0.23 0.98 0.10

COSMIC Results - Q9NZ71-9_226_533_7o75.1.A.A

Neutral Kz Neutral Kt Pathogenic Kz Pathogenic Kt ROC AUC PR AUC PathProx Neutral Constraint Pathogenic Constraint
-2.67 31.00 -1.19 9.00 0.34 0.18 -0.02 0.99 0.00

Location of G323D in Q9NZ71-9_226_533_7o75.1.A.A (NGL Viewer)

Variant Distributions

40 gnomAD38
7 clinvar
9 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


ENSP00000322287.5_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 ENSP00000322287.5_1 A 3crw 30.0 1.0 244 492 0.35 0.87 0.01 0.185

clinvar Results - ENSP00000322287.5_1.A

Neutral Kz Neutral Kt Pathogenic Kz Pathogenic Kt ROC AUC PR AUC PathProx Neutral Constraint Pathogenic Constraint
-2.26 45.00 -1.09 42.00 0.88 0.87 0.35 0.78 0.33

COSMIC Results - ENSP00000322287.5_1.A

Neutral Kz Neutral Kt Pathogenic Kz Pathogenic Kt ROC AUC PR AUC PathProx Neutral Constraint Pathogenic Constraint
-1.54 32.00 -2.54 28.00 0.27 0.19 0.01 0.86 0.14

Location of G323D in ENSP00000322287.5_1.A (NGL Viewer)

Variant Distributions

31 gnomAD38
6 clinvar
7 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