General Structure Information
| PDB ID | 4ivo |
| HGNC Gene Label(s) | PPOX |
| Structure Name | structure of human protoporphyrinogen ix oxidase(r59q) |
| Resolution | 2.6Å |
| Reference | AUTH B.WANG,X.WEN,X.QIN,Z.WANG,Y.TAN,Y.SHEN,Z.XITITL QUANTITATIVE STRUCTURAL INSIGHT INTO HUMAN VARIEGATETITL 2 PORPHYRIA DISEASE.REF J.BIOL.CHEM. V. 288 11731 2013REFN ISSN 0021-9258PMID 23467411DOI 10.1074/JBC.M113.459768 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 464 |
| Number Of SNVs | 94 |
| Number Of Permutations | 17789 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | 0.243 |
| p-value | 0.028 |
ClinVar
| Number Of Residues | 464 |
| Number Of SNVs | 7 |
| Number Of Permutations | 1034 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.333 |
| p-value | 0.081 |
COSMIC
| Number Of Residues | 464 |
| Number Of SNVs | 3 |
| Number Of Permutations | 160 |
| Optimal Distance Threshold | 31.0 |
| K Statistic | 0.333 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 94 |
| Number Of ClinVar SNVs | 7 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.21 |
| p-value | 0.054 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 94 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 24.0 |
| K Statistic | -0.288 |
| p-value | 0.638 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
