General Structure Information
| PDB ID | 1jr2 |
| HGNC Gene Label(s) | UROS |
| Structure Name | structure of uroporphyrinogen iii synthase |
| Resolution | 1.84Å |
| Reference | AUTH M.A.MATHEWS,H.L.SCHUBERT,F.G.WHITBY,K.J.ALEXANDER,AUTH 2 K.SCHADICK,H.A.BERGONIA,J.D.PHILLIPS,C.P.HILLTITL CRYSTAL STRUCTURE OF HUMAN UROPORPHYRINOGEN IIITITL 2 SYNTHASE.REF EMBO J. V. 20 5832 2001REFN ISSN 0261-4189PMID 11689424DOI 10.1093/EMBOJ/20.21.5832 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 260 |
| Number Of SNVs | 62 |
| Number Of Permutations | 31240 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.252 |
| p-value | 0.51 |
ClinVar
| Number Of Residues | 260 |
| Number Of SNVs | 13 |
| Number Of Permutations | 7000 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.038 |
| p-value | 0.308 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 62 |
| Number Of ClinVar SNVs | 13 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.018 |
| p-value | 0.36 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
