General Structure Information
| PDB ID | 6jdw |
| HGNC Gene Label(s) | GATM |
| Structure Name | crystal structure of human l-arginine:glycine amidinotransferase in complex with gamma-amino butyric acid |
| Resolution | 2.5Å |
| Reference | AUTH E.FRITSCHE,A.HUMM,R.HUBERTITL THE LIGAND-INDUCED STRUCTURAL CHANGES OF HUMANTITL 2 L-ARGININE:GLYCINE AMIDINOTRANSFERASE. ATITL 3 MUTATIONAL AND CRYSTALLOGRAPHIC STUDY.REF J.BIOL.CHEM. V. 274 3026 1999REFN ISSN 0021-9258PMID 9915841DOI 10.1074/JBC.274.5.3026 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 360 |
| Number Of SNVs | 62 |
| Number Of Permutations | 6901 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.213 |
| p-value | 0.135 |
ClinVar
| Number Of Residues | 360 |
| Number Of SNVs | 3 |
| Number Of Permutations | 159 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.0 |
| p-value | 0.925 |
COSMIC
| Number Of Residues | 360 |
| Number Of SNVs | 4 |
| Number Of Permutations | 333 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.333 |
| p-value | 0.483 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 62 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | -0.136 |
| p-value | 0.417 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 62 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.269 |
| p-value | 0.531 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
