General Structure Information
| PDB ID | 3gw3 |
| HGNC Gene Label(s) | UROD |
| Structure Name | human urod mutant k297n |
| Resolution | 1.7Å |
| Reference | AUTH C.A.WARBY,J.D.PHILLIPS,H.A.BERGONIA,F.G.WHITBY,C.P.HILL,AUTH 2 J.P.KUSHNERTITL STRUCTURAL AND KINETIC CHARACTERIZATION OF MUTANT HUMANTITL 2 UROPORPHYRINOGEN DECARBOXYLASES.REF CELL MOL BIOL V. 55 40 2009REF 2 (NOISY-LE-GRAND)REFNPMID 19656450 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 357 |
| Number Of SNVs | 82 |
| Number Of Permutations | 39282 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.075 |
| p-value | 0.082 |
ClinVar
| Number Of Residues | 357 |
| Number Of SNVs | 9 |
| Number Of Permutations | 4203 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.111 |
| p-value | 0.305 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 82 |
| Number Of ClinVar SNVs | 9 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.077 |
| p-value | 0.136 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
