1JVG.B | UAP1

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

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants