General Structure Information
| PDB ID | 1de4 |
| HGNC Gene Label(s) | HFE |
| Structure Name | hemochromatosis protein hfe complexed with transferrin receptor |
| Resolution | 2.8Å |
| Reference | AUTH M.J.BENNETT,J.A.LEBRON,P.J.BJORKMANTITL CRYSTAL STRUCTURE OF THE HEREDITARY HAEMOCHROMATOSIS PROTEINTITL 2 HFE COMPLEXED WITH TRANSFERRIN RECEPTOR.REF NATURE V. 403 46 2000REFN ISSN 0028-0836PMID 10638746DOI 10.1038/47417 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 272 |
| Number Of SNVs | 65 |
| Number Of Permutations | 11114 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | 0.3 |
| p-value | 0.335 |
ClinVar
| Number Of Residues | 272 |
| Number Of SNVs | 7 |
| Number Of Permutations | 1194 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.095 |
| p-value | 0.82 |
COSMIC
| Number Of Residues | 272 |
| Number Of SNVs | 3 |
| Number Of Permutations | 208 |
| Optimal Distance Threshold | 27.0 |
| K Statistic | 0.667 |
| p-value | 0.554 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 65 |
| Number Of ClinVar SNVs | 7 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.057 |
| p-value | 0.669 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 65 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | 0.568 |
| p-value | 0.401 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
