3IKM.D | POLG

General Structure Information

PDB ID 3ikm
HGNC Gene Label(s) POLG
Structure Name crystal structure of human mitochondrial dna polymerase holoenzyme
Resolution 3.24Å
Reference AUTH Y.S.LEE,W.D.KENNEDY,Y.W.YINTITL STRUCTURAL INSIGHT INTO PROCESSIVE HUMANTITL 2 MITOCHONDRIAL DNA SYNTHESIS AND DISEASE-RELATEDTITL 3 POLYMERASE MUTATIONS.REF CELL(CAMBRIDGE,MASS.) V. 139 312 2009REFN ISSN 0092-8674PMID 19837034DOI 10.1016/J.CELL.2009.07.050

Variant Set Distributions

ExAC Variants

Number Of Residues 1094
Number Of SNVs 330
Number Of Permutations 74453
Optimal Distance Threshold 20.0
K Statistic 0.103
p-value 0.443
ClinVar

Number Of Residues 1094
Number Of SNVs 59
Number Of Permutations 22009
Optimal Distance Threshold 21.0
K Statistic 0.175
p-value 0.001
COSMIC

Number Of Residues 1094
Number Of SNVs 10
Number Of Permutations 8033
Optimal Distance Threshold 15.0
K Statistic 0.089
p-value 0.753

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 330
Number Of ClinVar SNVs 58
Optimal Distance Threshold 18.0
K Statistic 0.04
p-value 0.015
Cosmic vs. ExAC

Number Of ExAC SNVs 330
Number Of COSMIC SNVs 6
Optimal Distance Threshold 15.0
K Statistic 0.084
p-value 0.446

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants

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