1AXI.A | GH1

General Structure Information

PDB ID 1axi
HGNC Gene Label(s) GH1
Structure Name structural plasticity at the hgh:hghbp interface
Resolution 2.1Å
Reference AUTH S.ATWELL,M.ULTSCH,A.M.DE VOS,J.A.WELLSTITL STRUCTURAL PLASTICITY IN A REMODELED PROTEIN-PROTEINTITL 2 INTERFACE.REF SCIENCE V. 278 1125 1997REFN ISSN 0036-8075PMID 9353194DOI 10.1126/SCIENCE.278.5340.1125

Variant Set Distributions

ExAC Variants

Number Of Residues 175
Number Of SNVs 53
Number Of Permutations 8560
Optimal Distance Threshold 11.0
K Statistic 0.104
p-value 0.833
ClinVar

Number Of Residues 175
Number Of SNVs 4
Number Of Permutations 398
Optimal Distance Threshold 16.0
K Statistic 0.0
p-value 0.206
COSMIC

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 53
Number Of ClinVar SNVs 4
Optimal Distance Threshold 16.0
K Statistic -0.291
p-value 0.216
Cosmic vs. ExAC

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants