2M6I.A | GLRA1

General Structure Information

PDB ID 2m6i
HGNC Gene Label(s) GLRA1
Structure Name putative pentameric open-channel structure of full-length transmembrane domains of human glycine receptor alpha1 subunit
Resolution -1.0Å
Reference AUTH D.D.MOWREY,T.CUI,Y.JIA,D.MA,A.M.MAKHOV,P.ZHANG,P.TANG,Y.XUTITL OPEN-CHANNEL STRUCTURES OF THE HUMAN GLYCINE RECEPTOR ALPHATITL 2 1 FULL-LENGTH TRANSMEMBRANE DOMAIN.REF STRUCTURE V. 21 1897 2013REFN ISSN 0969-2126PMID 23994010DOI 10.1016/J.STR.2013.07.014

Variant Set Distributions

ExAC Variants

Number Of Residues 140
Number Of SNVs 26
Number Of Permutations 13984
Optimal Distance Threshold 9.0
K Statistic 0.049
p-value 0.239
ClinVar

Number Of Residues 140
Number Of SNVs 14
Number Of Permutations 6990
Optimal Distance Threshold 13.0
K Statistic 0.308
p-value 0.077
COSMIC

Number Of Residues 140
Number Of SNVs 3
Number Of Permutations 27
Optimal Distance Threshold 23.0
K Statistic 0.333
p-value 1.0

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 26
Number Of ClinVar SNVs 14
Optimal Distance Threshold 13.0
K Statistic 0.157
p-value 0.003
Cosmic vs. ExAC

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants