General Structure Information
| PDB ID | 3pb9 |
| HGNC Gene Label(s) | QPCTL |
| Structure Name | crystal structure of the catalytic domain of human golgi-resident glutaminyl cyclase in complex with 1-benzylimidazole |
| Resolution | 1.12Å |
| Reference | AUTH K.F.HUANG,S.S.LIAW,W.L.HUANG,C.Y.CHIA,Y.C.LO,Y.L.CHEN,AUTH 2 A.H.J.WANGTITL STRUCTURES OF HUMAN GOLGI-RESIDENT GLUTAMINYL CYCLASE ANDTITL 2 ITS COMPLEXES WITH INHIBITORS REVEAL A LARGE LOOP MOVEMENTTITL 3 UPON INHIBITOR BINDINGREF J.BIOL.CHEM. V. 286 12439 2011REFN ISSN 0021-9258PMID 21288892DOI 10.1074/JBC.M110.208595 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 309 |
| Number Of SNVs | 89 |
| Number Of Permutations | 27724 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.018 |
| p-value | 0.85 |
COSMIC
| Number Of Residues | 309 |
| Number Of SNVs | 4 |
| Number Of Permutations | 311 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.167 |
| p-value | 0.893 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 89 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | -0.178 |
| p-value | 1.0 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis

