General Structure Information
| PDB ID | 4ijq |
| HGNC Gene Label(s) | HPRT1 |
| Structure Name | human hypoxanthine-guanine phosphoribosyltransferase in complex with [(2-((guanine-9h-yl)methyl)propane-1,3-diyl)bis(oxy)]bis(methylene)) diphosphonic acid |
| Resolution | 2.0Å |
| Reference | AUTH D.T.KEOUGH,P.SPACEK,D.HOCKOVA,T.TICHY,S.VRBKOVA,AUTH 2 L.SLAVETINSKA,Z.JANEBA,L.NAESENS,M.D.EDSTEIN,M.CHAVCHICH,AUTH 3 T.H.WANG,J.JERSEY,L.W.GUDDATTITL ACYCLIC NUCLEOSIDE PHOSPHONATES CONTAINING A SECONDTITL 2 PHOSPHONATE GROUP ARE POTENT INHIBITORS OF 6-OXOPURINETITL 3 PHOSPHORIBOSYLTRANSFERASES AND HAVE ANTIMALARIAL ACTIVITYREF J.MED.CHEM. V. 56 2513 2013REFN ISSN 0022-2623PMID 23448281DOI 10.1021/JM301893B |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 205 |
| Number Of SNVs | 6 |
| Number Of Permutations | 627 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.067 |
| p-value | 0.565 |
ClinVar
| Number Of Residues | 205 |
| Number Of SNVs | 26 |
| Number Of Permutations | 3441 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.412 |
| p-value | 0.006 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 6 |
| Number Of ClinVar SNVs | 26 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | -0.054 |
| p-value | 0.429 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
