General Structure Information
| PDB ID | 2aex |
| HGNC Gene Label(s) | CPOX |
| Structure Name | the 1.58a crystal structure of human coproporphyrinogen oxidase reveals the structural basis of hereditary coproporphyria |
| Resolution | 1.58Å |
| Reference | AUTH D.S.LEE,E.FLACHSOVA,M.BODNAROVA,B.DEMELER,P.MARTASEK,AUTH 2 C.S.RAMANTITL STRUCTURAL BASIS OF HEREDITARY COPROPORPHYRIA.REF PROC.NATL.ACAD.SCI.USA V. 102 14232 2005REFN ISSN 0027-8424PMID 16176984DOI 10.1073/PNAS.0506557102 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 336 |
| Number Of SNVs | 76 |
| Number Of Permutations | 38503 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.256 |
| p-value | 0.628 |
ClinVar
| Number Of Residues | 336 |
| Number Of SNVs | 7 |
| Number Of Permutations | 3285 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.143 |
| p-value | 0.381 |
COSMIC
| Number Of Residues | 336 |
| Number Of SNVs | 6 |
| Number Of Permutations | 903 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.2 |
| p-value | 0.899 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 76 |
| Number Of ClinVar SNVs | 7 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.09 |
| p-value | 0.516 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 76 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | -0.041 |
| p-value | 0.793 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
