General Structure Information
| PDB ID | 4mqf |
| HGNC Gene Label(s) | GABBR1 |
| Structure Name | crystal structure of the extracellular domain of human gaba(b) receptor bound to the antagonist 2-hydroxysaclofen |
| Resolution | 2.22Å |
| Reference | AUTH Y.GENG,M.BUSH,L.MOSYAK,F.WANG,Q.R.FANTITL STRUCTURAL MECHANISM OF LIGAND ACTIVATION IN HUMAN GABA(B)TITL 2 RECEPTOR.REF NATURE V. 504 254 2013REFN ISSN 0028-0836PMID 24305054DOI 10.1038/NATURE12725 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 404 |
| Number Of SNVs | 37 |
| Number Of Permutations | 28337 |
| Optimal Distance Threshold | 25.0 |
| K Statistic | 0.275 |
| p-value | 0.001 |
COSMIC
| Number Of Residues | 404 |
| Number Of SNVs | 3 |
| Number Of Permutations | 161 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.333 |
| p-value | 0.712 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
