3KJO.A | POT1

General Structure Information

PDB ID 3kjo
HGNC Gene Label(s) POT1
Structure Name crystal structure of hpot1v2-dtrud(agggttag)
Resolution 1.8Å
Reference AUTH J.NANDAKUMAR,E.R.PODELL,T.R.CECHTITL HOW TELOMERIC PROTEIN POT1 AVOIDS RNA TO ACHIEVETITL 2 SPECIFICITY FOR SINGLE-STRANDED DNA.REF PROC.NATL.ACAD.SCI.USA V. 107 651 2010REFN ISSN 0027-8424PMID 20080730DOI 10.1073/PNAS.0911099107

Variant Set Distributions

ExAC Variants

Number Of Residues 291
Number Of SNVs 38
Number Of Permutations 27728
Optimal Distance Threshold 7.0
K Statistic 0.031
p-value 0.668
ClinVar

Number Of Residues 291
Number Of SNVs 3
Number Of Permutations 299
Optimal Distance Threshold 19.0
K Statistic 0.667
p-value 0.402
COSMIC

Number Of Residues 291
Number Of SNVs 13
Number Of Permutations 3889
Optimal Distance Threshold 9.0
K Statistic 0.064
p-value 0.807

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 38
Number Of ClinVar SNVs 3
Optimal Distance Threshold 19.0
K Statistic 0.396
p-value 0.485
Cosmic vs. ExAC

Number Of ExAC SNVs 38
Number Of COSMIC SNVs 11
Optimal Distance Threshold 32.0
K Statistic 0.12
p-value 0.53

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants