General Structure Information
| PDB ID | 2qz4 |
| HGNC Gene Label(s) | SPG7 |
| Structure Name | human paraplegin, aaa domain in complex with adp |
| Resolution | 2.22Å |
| Reference | AUTH T.KARLBERG,S.VAN DEN BERG,M.HAMMARSTROM,J.SAGEMARK,AUTH 2 I.JOHANSSON,L.HOLMBERG-SCHIAVONE,H.SCHULERTITL CRYSTAL STRUCTURE OF THE ATPASE DOMAIN OF THE HUMAN AAA+TITL 2 PROTEIN PARAPLEGIN/SPG7.REF PLOS ONE V. 4 E6975 2009REFN ESSN 1932-6203PMID 19841671DOI 10.1371/JOURNAL.PONE.0006975 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 222 |
| Number Of SNVs | 65 |
| Number Of Permutations | 28577 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.089 |
| p-value | 0.515 |
ClinVar
| Number Of Residues | 222 |
| Number Of SNVs | 4 |
| Number Of Permutations | 749 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.0 |
| p-value | 0.174 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 65 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | -0.313 |
| p-value | 0.158 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
