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

