General Structure Information
| PDB ID | 4c29 |
| HGNC Gene Label(s) | VWF |
| Structure Name | crystal structure of high-affinity von willebrand factor a1 domain with disulfide mutation |
| Resolution | 2.2Å |
| Reference | AUTH M.A.BLENNER,X.DONG,T.A.SPRINGERTITL TOWARDS THE STRUCTURAL BASIS OF REGULATION OF VONTITL 2 WILLEBRAND FACTOR BINDING TO GLYCOPROTEIN IBREF J.BIOL.CHEM. V. 289 5565 2014REFN ISSN 0021-9258PMID 24391089DOI 10.1074/JBC.M113.511220 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 201 |
| Number Of SNVs | 64 |
| Number Of Permutations | 6748 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.055 |
| p-value | 0.593 |
ClinVar
| Number Of Residues | 201 |
| Number Of SNVs | 7 |
| Number Of Permutations | 693 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.333 |
| p-value | 0.403 |
COSMIC
| Number Of Residues | 201 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.3 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 64 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | -0.145 |
| p-value | 0.637 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 64 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | -0.316 |
| p-value | 1.0 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
