1KF9.C | GHR

General Structure Information

PDB ID 1kf9
HGNC Gene Label(s) GHR
Structure Name phage display derived variant of human growth hormone complexed with two copies of the extracellular domain of its receptor
Resolution 2.6Å
Reference AUTH C.A.SCHIFFER,M.ULTSCH,S.WALSH,W.SOMERS,A.M.DE VOS,AUTH 2 A.A.KOSSIAKOFFTITL STRUCTURE OF A PHAGE DISPLAY DERIVED VARIANT OFTITL 2 HUMAN GROWTH HORMONE COMPLEXED TO TWO COPIES OFTITL 3 THE EXTRACELLULAR DOMAIN OF ITS RECEPTOR: EVIDENCETITL 4 FOR STRONG STRUCTURAL COUPLING BETWEEN RECEPTORTITL 5 BINDING SITESREF J.MOL.BIOL. V. 316 277 2002REFN ISSN 0022-2836PMID 11851338DOI 10.1006/JMBI.2001.5348

Variant Set Distributions

ExAC Variants

Number Of Residues 175
Number Of SNVs 46
Number Of Permutations 10743
Optimal Distance Threshold 6.0
K Statistic 0.02
p-value 0.943
ClinVar

Number Of Residues 175
Number Of SNVs 11
Number Of Permutations 2366
Optimal Distance Threshold 7.0
K Statistic 0.109
p-value 0.291
COSMIC

Number Of Residues 175
Number Of SNVs 5
Number Of Permutations 1140
Optimal Distance Threshold 20.0
K Statistic 0.3
p-value 1.0

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 46
Number Of ClinVar SNVs 11
Optimal Distance Threshold 6.0
K Statistic 0.052
p-value 0.296
Cosmic vs. ExAC

Number Of ExAC SNVs 46
Number Of COSMIC SNVs 5
Optimal Distance Threshold 12.0
K Statistic -0.137
p-value 0.764

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants