General Structure Information
| PDB ID | 1ey2 |
| HGNC Gene Label(s) | HGD |
| Structure Name | human homogentisate dioxygenase with fe(ii) |
| Resolution | 2.3Å |
| Reference | AUTH G.P.TITUS,H.A.MUELLER,J.BURGNER,S.RODRIGUEZ DE CORDOBA,AUTH 2 M.A.PENALVA,D.E.TIMMTITL CRYSTAL STRUCTURE OF HUMAN HOMOGENTISATE DIOXYGENASE.REF NAT.STRUCT.BIOL. V. 7 542 2000REFN ISSN 1072-8368PMID 10876237DOI 10.1038/76756 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 410 |
| Number Of SNVs | 119 |
| Number Of Permutations | 73848 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.008 |
| p-value | 0.864 |
ClinVar
| Number Of Residues | 410 |
| Number Of SNVs | 10 |
| Number Of Permutations | 9098 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | 0.467 |
| p-value | 0.707 |
COSMIC
| Number Of Residues | 410 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1638 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | 0.5 |
| p-value | 0.808 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 119 |
| Number Of ClinVar SNVs | 10 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | 0.142 |
| p-value | 0.919 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 119 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 42.0 |
| K Statistic | -0.239 |
| p-value | 0.784 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
