General Structure Information
| PDB ID | 2ew9 |
| HGNC Gene Label(s) | ATP7B |
| Structure Name | solution structure of apowln5-6 |
| Resolution | -1.0Å |
| Reference | AUTH D.ACHILA,L.BANCI,I.BERTINI,J.BUNCE,S.CIOFI-BAFFONI,AUTH 2 D.L.HUFFMANTITL STRUCTURE OF HUMAN WILSON PROTEIN DOMAINS 5 AND 6TITL 2 AND THEIR INTERPLAY WITH DOMAIN 4 AND THE COPPERTITL 3 CHAPERONE HAH1 IN COPPER UPTAKE.REF PROC.NATL.ACAD.SCI.USA V. 103 5729 2006REFN ISSN 0027-8424PMID 16571664DOI 10.1073/PNAS.0504472103 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 148 |
| Number Of SNVs | 44 |
| Number Of Permutations | 19258 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.137 |
| p-value | 0.042 |
ClinVar
| Number Of Residues | 148 |
| Number Of SNVs | 3 |
| Number Of Permutations | 190 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.0 |
| p-value | 0.468 |
COSMIC
| Number Of Residues | 148 |
| Number Of SNVs | 3 |
| Number Of Permutations | 133 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.333 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
Cosmic vs. ExAC
| Number Of ExAC SNVs | 44 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | -0.433 |
| p-value | 0.505 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
