General Structure Information
| PDB ID | 1egd |
| HGNC Gene Label(s) | ACADM |
| Structure Name | structure of t255e, e376g mutant of human medium chain acyl- coa dehydrogenase |
| Resolution | 2.4Å |
| Reference | AUTH H.J.LEE,M.WANG,R.PASCHKE,A.NANDY,S.GHISLA,J.J.KIMTITL CRYSTAL STRUCTURES OF THE WILD TYPE AND THETITL 2 GLU376GLY/THR255GLU MUTANT OF HUMAN MEDIUM-CHAINTITL 3 ACYL-COA DEHYDROGENASE: INFLUENCE OF THE LOCATIONTITL 4 OF THE CATALYTIC BASE ON SUBSTRATE SPECIFICITY.REF BIOCHEMISTRY V. 35 12412 1996REFN ISSN 0006-2960PMID 8823176DOI 10.1021/BI9607867 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 387 |
| Number Of SNVs | 90 |
| Number Of Permutations | 60497 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.099 |
| p-value | 0.025 |
ClinVar
| Number Of Residues | 387 |
| Number Of SNVs | 24 |
| Number Of Permutations | 20229 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.036 |
| p-value | 0.447 |
COSMIC
| Number Of Residues | 387 |
| Number Of SNVs | 3 |
| Number Of Permutations | 249 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.667 |
| p-value | 0.18 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 90 |
| Number Of ClinVar SNVs | 23 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.01 |
| p-value | 0.763 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 90 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.21 |
| p-value | 0.626 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
