2Q80.E | GGPS1

General Structure Information

PDB ID 2q80
HGNC Gene Label(s) GGPS1
Structure Name crystal structure of human geranylgeranyl pyrophosphate synthase bound to ggpp
Resolution 2.7Å
Reference AUTH K.L.KAVANAGH,J.E.DUNFORD,G.BUNKOCZI,R.G.RUSSELL,U.OPPERMANNTITL THE CRYSTAL STRUCTURE OF HUMAN GERANYLGERANYL PYROPHOSPHATETITL 2 SYNTHASE REVEALS A NOVEL HEXAMERIC ARRANGEMENT ANDTITL 3 INHIBITORY PRODUCT BINDINGREF J.BIOL.CHEM. V. 281 22004 2006REFN ISSN 0021-9258PMID 16698791DOI 10.1074/JBC.M602603200

Variant Set Distributions

ExAC Variants

Number Of Residues 284
Number Of SNVs 52
Number Of Permutations 19005
Optimal Distance Threshold 19.0
K Statistic 0.273
p-value 0.768
COSMIC

Number Of Residues 284
Number Of SNVs 4
Number Of Permutations 194
Optimal Distance Threshold 23.0
K Statistic 0.333
p-value 0.996

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 52
Number Of COSMIC SNVs 4
Optimal Distance Threshold 30.0
K Statistic -0.308
p-value 0.817

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants