General Structure Information
| PDB ID | 2hgs |
| HGNC Gene Label(s) | GSS |
| Structure Name | human glutathione synthetase |
| Resolution | 2.1Å |
| Reference | AUTH G.POLEKHINA,P.G.BOARD,R.R.GALI,J.ROSSJOHN,AUTH 2 M.W.PARKERTITL MOLECULAR BASIS OF GLUTATHIONE SYNTHETASETITL 2 DEFICIENCY AND A RARE GENE PERMUTATION EVENT.REF EMBO J. V. 18 3204 1999REFN ISSN 0261-4189PMID 10369661DOI 10.1093/EMBOJ/18.12.3204 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 472 |
| Number Of SNVs | 133 |
| Number Of Permutations | 25481 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.058 |
| p-value | 0.287 |
ClinVar
| Number Of Residues | 472 |
| Number Of SNVs | 6 |
| Number Of Permutations | 842 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.267 |
| p-value | 0.241 |
COSMIC
| Number Of Residues | 472 |
| Number Of SNVs | 3 |
| Number Of Permutations | 171 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.667 |
| p-value | 0.32 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 133 |
| Number Of ClinVar SNVs | 6 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.16 |
| p-value | 0.249 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 133 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.417 |
| p-value | 0.504 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
