4I1H.A | PARK2

General Structure Information

PDB ID 4i1h
HGNC Gene Label(s) PARK2
Structure Name structure of parkin e3 ligase
Resolution 2.0Å
Reference AUTH B.E.RILEY,J.C.LOUGHEED,K.CALLAWAY,M.VELASQUEZ,E.BRECHT,AUTH 2 L.NGUYEN,T.SHALER,D.WALKER,Y.YANG,K.REGNSTROM,L.DIEP,AUTH 3 Z.ZHANG,S.CHIOU,M.BOVA,D.R.ARTIS,N.YAO,J.BAKER,T.YEDNOCK,AUTH 4 J.A.JOHNSTONTITL STRUCTURE AND FUNCTION OF PARKIN E3 UBIQUITIN LIGASE REVEALSTITL 2 ASPECTS OF RING AND HECT LIGASES.REF NAT COMMUN V. 4 1982 2013REFN ESSN 2041-1723PMID 23770887DOI 10.1038/NCOMMS2982

Variant Set Distributions

ExAC Variants

Number Of Residues 306
Number Of SNVs 102
Number Of Permutations 35937
Optimal Distance Threshold 10.0
K Statistic 0.045
p-value 0.392
ClinVar

Number Of Residues 306
Number Of SNVs 6
Number Of Permutations 1999
Optimal Distance Threshold 6.0
K Statistic 0.2
p-value 0.326
COSMIC

Number Of Residues 306
Number Of SNVs 6
Number Of Permutations 1753
Optimal Distance Threshold 21.0
K Statistic 0.133
p-value 0.639

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 102
Number Of ClinVar SNVs 6
Optimal Distance Threshold 6.0
K Statistic 0.19
p-value 0.257
Cosmic vs. ExAC

Number Of ExAC SNVs 102
Number Of COSMIC SNVs 3
Optimal Distance Threshold 43.0
K Statistic 0.22
p-value 0.79

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants