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

