General Structure Information
| PDB ID | 2wya |
| HGNC Gene Label(s) | HMGCS2 |
| Structure Name | crystal structure of human mitochondrial 3-hydroxy-3- methylglutaryl-coenzyme a synthase 2 (hmgcs2) |
| Resolution | 1.7Å |
| Reference | AUTH N.SHAFQAT,A.TURNBULL,J.ZSCHOCKE,U.OPPERMANN,AUTH 2 W.W.YUETITL CRYSTAL STRUCTURES OF HUMAN HMG-COA SYNTHASETITL 2 ISOFORMS PROVIDE INSIGHTS INTO INHERITEDTITL 3 KETOGENESIS DISORDERS AND INHIBITOR DESIGN.REF J.MOL.BIOL. V. 398 497 2010REFN ISSN 0022-2836PMID 20346956DOI 10.1016/J.JMB.2010.03.034 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 458 |
| Number Of SNVs | 128 |
| Number Of Permutations | 60229 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.298 |
| p-value | 0.321 |
ClinVar
| Number Of Residues | 458 |
| Number Of SNVs | 6 |
| Number Of Permutations | 2449 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.467 |
| p-value | 0.391 |
COSMIC
| Number Of Residues | 458 |
| Number Of SNVs | 3 |
| Number Of Permutations | 253 |
| Optimal Distance Threshold | 30.0 |
| K Statistic | 0.333 |
| p-value | 0.91 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 128 |
| Number Of ClinVar SNVs | 6 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.075 |
| p-value | 0.548 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 128 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.309 |
| p-value | 0.632 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
