General Structure Information
| PDB ID | 2cw6 |
| HGNC Gene Label(s) | HMGCL |
| Structure Name | crystal structure of human hmg-coa lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria |
| Resolution | 2.1Å |
| Reference | AUTH Z.FU,J.A.RUNQUIST,F.FOROUHAR,M.HUSSAIN,J.F.HUNT,AUTH 2 H.M.MIZIORKO,J.-J.P.KIMTITL CRYSTAL STRUCTURE OF HUMANTITL 2 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE: INSIGHTSTITL 3 INTO CATALYSIS AND THE MOLECULAR BASIS FORTITL 4 HYDROXYMETHYLGLUTARIC ACIDURIAREF J.BIOL.CHEM. V. 281 7526 2006REFN ISSN 0021-9258PMID 16330550DOI 10.1074/JBC.M506880200 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 296 |
| Number Of SNVs | 75 |
| Number Of Permutations | 7672 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.013 |
| p-value | 0.366 |
ClinVar
| Number Of Residues | 296 |
| Number Of SNVs | 4 |
| Number Of Permutations | 268 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.833 |
| p-value | 0.153 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 75 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.484 |
| p-value | 0.322 |