General Structure Information
| PDB ID | 2koy |
| HGNC Gene Label(s) | ATP7B |
| Structure Name | structure of the e1064a mutant of the n-domain of wilson disease associated protein |
| Resolution | -1.0Å |
| Reference | AUTH O.Y.DMITRIEV,S.L.LUTSENKO,E.E.UHLEMANNTITL THE STRUCTURE OF THE E1064A MUTANT REVEALS ATP-DEPENDENTTITL 2 CONFORMATIONAL CHANGES IN THE ATP7B N-DOMAIN.REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 137 |
| Number Of SNVs | 45 |
| Number Of Permutations | 18247 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.115 |
| p-value | 0.65 |
ClinVar
| Number Of Residues | 137 |
| Number Of SNVs | 7 |
| Number Of Permutations | 2266 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.143 |
| p-value | 0.243 |
COSMIC
| Number Of Residues | 137 |
| Number Of SNVs | 5 |
| Number Of Permutations | 2021 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.2 |
| p-value | 0.837 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 45 |
| Number Of ClinVar SNVs | 7 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.091 |
| p-value | 0.264 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 45 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | -0.374 |
| p-value | 0.165 |