General Structure Information
| PDB ID | 3ggs |
| HGNC Gene Label(s) | PNP |
| Structure Name | human purine nucleoside phosphorylase double mutant e201q,n243d complexed with 2-fluoro-2-deoxyadenosine |
| Resolution | 2.52Å |
| Reference | AUTH S.AFSHAR,M.R.SAWAYA,S.L.MORRISONTITL STRUCTURE OF A MUTANT HUMAN PURINE NUCLEOSIDE PHOSPHORYLASETITL 2 WITH THE PRODRUG, 2-FLUORO-2-DEOXYADENOSINE AND THETITL 3 CYTOTOXIC DRUG, 2-FLUOROADENINE.REF PROTEIN SCI. V. 18 1107 2009REFN ISSN 0961-8368PMID 19388075DOI 10.1002/PRO.91 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 285 |
| Number Of SNVs | 70 |
| Number Of Permutations | 34934 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.275 |
| p-value | 0.182 |
ClinVar
| Number Of Residues | 285 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1282 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.6 |
| p-value | 0.813 |
COSMIC
| Number Of Residues | 285 |
| Number Of SNVs | 4 |
| Number Of Permutations | 207 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.167 |
| p-value | 0.459 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC



Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 70 |
| Number Of ClinVar SNVs | 5 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | -0.139 |
| p-value | 0.713 |
Cosmic vs. ExAC

Pathogenic Proximity Analysis
ClinVar PathProx Analysis


COSMIC PathProx Analysis

