General Structure Information
| PDB ID | 3rmu |
| HGNC Gene Label(s) | MCEE |
| Structure Name | crystal structure of human methylmalonyl-coa epimerase, mcee |
| Resolution | 1.8Å |
| Reference | AUTH A.CHAIKUAD,E.KRYSZTOFINSKA,D.S.FROESE,W.W.YUE,M.VOLLMAR,AUTH 2 J.R.C.MUNIZ,F.VON DELFT,J.WEIGELT,C.H.ARROWSMITH,AUTH 3 A.M.EDWARDS,C.BOUNTRA,U.OPPERMANN,AUTH 4 STRUCTURAL GENOMICS CONSORTIUM (SGC)TITL CRYSTAL STRUCTURE OF HUMAN METHYLMALONYL-COA EPIMERASE, MCEEREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 132 |
| Number Of SNVs | 36 |
| Number Of Permutations | 11570 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.262 |
| p-value | 0.349 |
ClinVar
| Number Of Residues | 132 |
| Number Of SNVs | 3 |
| Number Of Permutations | 155 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.0 |
| p-value | 0.639 |
COSMIC
| Number Of Residues | 132 |
| Number Of SNVs | 4 |
| Number Of Permutations | 16 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.333 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 36 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | -0.262 |
| p-value | 0.66 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 36 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | -0.219 |
| p-value | 0.897 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
