General Structure Information
| PDB ID | 2hw5 |
| HGNC Gene Label(s) | ECHS1 |
| Structure Name | the crystal structure of human enoyl-coenzyme a (coa) hydratase short chain 1, echs1 |
| Resolution | 2.55Å |
| Reference | AUTH A.P.TURNBULL,E.SALAH,F.NIESEN,J.DEBRECZENI,E.UGOCHUKWU,AUTH 2 A.C.W.PIKE,K.KAVANAGH,O.GILEADI,F.GORREC,C.UMEANO,AUTH 3 F.VON DELFT,J.WEIGELT,A.EDWARDS,C.ARROWSMITH,M.SUNDSTROM,AUTH 4 U.OPPERMANNTITL THE CRYSTAL STRUCTURE OF HUMAN ENOYL-COENZYME A (COA)TITL 2 HYDRATASE SHORT CHAIN 1, ECHS1REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 260 |
| Number Of SNVs | 60 |
| Number Of Permutations | 36628 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.055 |
| p-value | 0.305 |
COSMIC
| Number Of Residues | 260 |
| Number Of SNVs | 4 |
| Number Of Permutations | 192 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.5 |
| p-value | 0.224 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 60 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.302 |
| p-value | 0.297 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
