General Structure Information
| PDB ID | 1jvg |
| HGNC Gene Label(s) | UAP1 |
| Structure Name | crystal structure of human agx2 complexed with udpgalnac |
| Resolution | 2.3Å |
| Reference | AUTH C.PENEFF,P.FERRARI,V.CHARRIER,Y.TABURET,C.MONNIER,AUTH 2 V.ZAMBONI,J.WINTER,M.HARNOIS,F.FASSY,Y.BOURNETITL CRYSTAL STRUCTURES OF TWO HUMAN PYROPHOSPHORYLASETITL 2 ISOFORMS IN COMPLEXES WITH UDPGLC(GAL)NAC: ROLE OFTITL 3 THE ALTERNATIVELY SPLICED INSERT IN THE ENZYMETITL 4 OLIGOMERIC ASSEMBLY AND ACTIVE SITE ARCHITECTURE.REF EMBO J. V. 20 6191 2001REFN ISSN 0261-4189PMID 11707391DOI 10.1093/EMBOJ/20.22.6191 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 480 |
| Number Of SNVs | 98 |
| Number Of Permutations | 29160 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.032 |
| p-value | 0.351 |
COSMIC
| Number Of Residues | 480 |
| Number Of SNVs | 4 |
| Number Of Permutations | 1178 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.167 |
| p-value | 0.467 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 98 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.308 |
| p-value | 0.496 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis

