General Structure Information
| PDB ID | 4aw6 |
| HGNC Gene Label(s) | ZMPSTE24 |
| Structure Name | crystal structure of the human nuclear membrane zinc metalloprotease zmpste24 (face1) |
| Resolution | 3.4Å |
| Reference | AUTH A.QUIGLEY,Y.Y.DONG,A.C.W.PIKE,L.DONG,L.SHRESTHA,G.BERRIDGE,AUTH 2 P.J.STANSFELD,M.S.P.SANSOM,A.M.EDWARDS,C.BOUNTRA,AUTH 3 F.VON DELFT,A.N.BULLOCK,N.A.BURGESS-BROWN,E.P.CARPENTERTITL THE STRUCTURAL BASIS OF ZMPSTE24-DEPENDENT LAMINOPATHIES.REF SCIENCE V. 339 1604 2013REFN ISSN 0036-8075PMID 23539603DOI 10.1126/SCIENCE.1231513 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 418 |
| Number Of SNVs | 95 |
| Number Of Permutations | 44919 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.013 |
| p-value | 0.719 |
ClinVar
| Number Of Residues | 418 |
| Number Of SNVs | 3 |
| Number Of Permutations | 300 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 1.0 |
| p-value | 0.01 |
COSMIC
| Number Of Residues | 418 |
| Number Of SNVs | 5 |
| Number Of Permutations | 644 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.3 |
| p-value | 0.035 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 95 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.894 |
| p-value | 0.01 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 95 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 38.0 |
| K Statistic | 0.334 |
| p-value | 0.401 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
