3GGS.B | PNP

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

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants