General Structure Information
| PDB ID | 2jif |
| HGNC Gene Label(s) | ACADSB |
| Structure Name | structure of human short-branched chain acyl-coa dehydrogenase (acadsb) |
| Resolution | 2.0Å |
| Reference | AUTH A.C.W.PIKE,V.HOZJAN,C.SMEE,F.H.NIESEN,K.L.KAVANAGH,C.UMEANO,AUTH 2 A.P.TURNBULL,F.VON DELFT,J.WEIGELT,A.EDWARDS,C.H.ARROWSMITH,AUTH 3 M.SUNDSTROM,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN SHORT-BRANCHED CHAIN ACYL-COATITL 2 DEHYDROGENASEREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 381 |
| Number Of SNVs | 103 |
| Number Of Permutations | 65271 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.136 |
| p-value | 0.405 |
ClinVar
| Number Of Residues | 381 |
| Number Of SNVs | 4 |
| Number Of Permutations | 1215 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | 0.833 |
| p-value | 0.427 |
COSMIC
| Number Of Residues | 381 |
| Number Of SNVs | 7 |
| Number Of Permutations | 1443 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.048 |
| p-value | 0.245 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 103 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.114 |
| p-value | 0.868 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 103 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | -0.21 |
| p-value | 0.353 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
