Home Structure Report P17050_19_404_1ktb.1.B monomer P17050_19_404_1ktb.1.B dimer ENSP00000379680.3_1 monomer AF-P17050-F1 monomer 4do6 dimer 4do4 monomer
Date 2024-01-02
Case SampleCase
Gene NAGA
Protein P17050
Variant D136N

D136 Rate4Site Score ENST00000396398.8

Rate4Site Score QQ-Interval Std MSA
Normalized: -0.20 -0.39, 0.02 0.23 100.00/100

D136 Cosmis Score P17050

Cosmis Score pValue cossyn source
Normalized: 3.13 1.00 -0.83 PDB

MusiteDeep (PTMs) within 8.0A of D136

PTM Residue PTM Type Probability
124 N-linked_glycosylation 0.9

ScanNet Prediction of D136 participation in a PPI

Binding Site Probability
0.2

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 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


P17050_19_404_1ktb.1.B.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 P17050_19_404_1ktb.1.B A 1ktb.1.B 74.87 1.0 19 404 -0.67 -0.08 -0.01 0.243

clinvar Results - P17050_19_404_1ktb.1.B.A

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

COSMIC Results - P17050_19_404_1ktb.1.B.A

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

Location of D136N in P17050_19_404_1ktb.1.B.A (NGL Viewer)

Variant Distributions

63 gnomAD38
1 clinvar
20 COSMIC

Ripley's Univariate K

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

Ripley's Bivariate D

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

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
PathProx COSMIC ROC
PathProx COSMIC PR


P17050_19_404_1ktb.1.B.A dimer - 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 P17050_19_404_1ktb.1.B A 1ktb.1.B 74.87 1.0 19 404 -0.01 0.243

clinvar Results - P17050_19_404_1ktb.1.B.A

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

COSMIC Results - P17050_19_404_1ktb.1.B.A

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

Location of D136N in P17050_19_404_1ktb.1.B.A (NGL Viewer)

Variant Distributions

126 gnomAD38
2 clinvar
40 COSMIC

Ripley's Univariate K

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

Ripley's Bivariate D

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

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
PathProx COSMIC ROC
PathProx COSMIC PR


ENSP00000379680.3_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 ENSP00000379680.3_1 A 4do4 100.0 1.0 18 411 -0.66 0.37 0.11 0.364

clinvar Results - ENSP00000379680.3_1.A

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

COSMIC Results - ENSP00000379680.3_1.A

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

Location of D136N in ENSP00000379680.3_1.A (NGL Viewer)

Variant Distributions

63 gnomAD38
1 clinvar
20 COSMIC

Ripley's Univariate K

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

Ripley's Bivariate D

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

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
PathProx COSMIC ROC
PathProx COSMIC PR


AF-P17050-F1.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
alphafold AF-P17050-F1 A 0.0 1.0 96.27 98.65 1 411 -2.36 0.78 -0.01 0.259

clinvar Results - AF-P17050-F1.A

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

COSMIC Results - AF-P17050-F1.A

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

Location of D136N in AF-P17050-F1.A (NGL Viewer)

Variant Distributions

63 gnomAD38
1 clinvar
21 COSMIC

Ripley's Univariate K

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

Ripley's Bivariate D

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

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
PathProx COSMIC ROC
PathProx COSMIC PR


4do6.A dimer - 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
X-RAY 4do6 A 1.6 1.0 18 405 -0.01 0.252

clinvar Results - 4do6.A

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

COSMIC Results - 4do6.A

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

Location of D136N in 4do6.A (NGL Viewer)

Variant Distributions

126 gnomAD38
2 clinvar
40 COSMIC

Ripley's Univariate K

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

Ripley's Bivariate D

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

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
PathProx COSMIC ROC
PathProx COSMIC PR


4do4.B 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
X-RAY 4do4 B 1.4 1.0 18 411 -0.69 0.26 -0.01 0.251

clinvar Results - 4do4.B

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

COSMIC Results - 4do4.B

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

Location of D136N in 4do4.B (NGL Viewer)

Variant Distributions

63 gnomAD38
1 clinvar
20 COSMIC

Ripley's Univariate K

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

Ripley's Bivariate D

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

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
PathProx COSMIC PR