General Structure Information
| PDB ID | 2v9y |
| HGNC Gene Label(s) | GART |
| Structure Name | human aminoimidazole ribonucleotide synthetase |
| Resolution | 2.1Å |
| Reference | AUTH M.WELIN,J.G.GROSSMANN,S.FLODIN,T.NYMAN,P.STENMARK,AUTH 2 L.TRESAUGUES,T.KOTENYOVA,I.JOHANSSON,P.NORDLUND,L.LEHTIOTITL STRUCTURAL STUDIES OF TRI-FUNCTIONAL HUMAN GART.REF NUCLEIC ACIDS RES. V. 38 7308 2010REFN ISSN 0305-1048PMID 20631005DOI 10.1093/NAR/GKQ595 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 314 |
| Number Of SNVs | 73 |
| Number Of Permutations | 13278 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.254 |
| p-value | 0.002 |
COSMIC
| Number Of Residues | 314 |
| Number Of SNVs | 3 |
| Number Of Permutations | 103 |
| Optimal Distance Threshold | 38.0 |
| K Statistic | 0.333 |
| p-value | 0.196 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 73 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 31.0 |
| K Statistic | -0.574 |
| p-value | 0.051 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
