General Structure Information
| PDB ID | 2lej |
| HGNC Gene Label(s) | PRNP |
| Structure Name | human prion protein mutant huprp(90-231, m129, v210i) |
| Resolution | -1.0Å |
| Reference | AUTH I.BILJAN,G.ILC,G.GIACHIN,A.RASPADORI,I.ZHUKOV,J.PLAVEC,AUTH 2 G.LEGNAMETITL TOWARD THE MOLECULAR BASIS OF INHERITED PRION DISEASES: NMRTITL 2 STRUCTURE OF THE HUMAN PRION PROTEIN WITH V210I MUTATION.REF J.MOL.BIOL. V. 412 660 2011REFN ISSN 0022-2836PMID 21839748DOI 10.1016/J.JMB.2011.07.067 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 142 |
| Number Of SNVs | 35 |
| Number Of Permutations | 40135 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.355 |
| p-value | 0.148 |
ClinVar
| Number Of Residues | 142 |
| Number Of SNVs | 18 |
| Number Of Permutations | 24733 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.438 |
| p-value | 0.066 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 35 |
| Number Of ClinVar SNVs | 18 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.13 |
| p-value | 0.48 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
