General Structure Information
| PDB ID | 2p8u |
| HGNC Gene Label(s) | HMGCS1 |
| Structure Name | crystal structure of human 3-hydroxy-3-methylglutaryl coa synthase i |
| Resolution | 2.0Å |
| Reference | AUTH N.SHAFQAT,A.TURNBULL,J.ZSCHOCKE,U.OPPERMANN,W.W.YUETITL CRYSTAL STRUCTURES OF HUMAN HMG-COA SYNTHASE ISOFORMSTITL 2 PROVIDE INSIGHTS INTO INHERITED KETOGENESIS DISORDERS ANDTITL 3 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 | 454 |
| Number Of SNVs | 58 |
| Number Of Permutations | 34738 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | 0.255 |
| p-value | 0.028 |
COSMIC
| Number Of Residues | 454 |
| Number Of SNVs | 5 |
| Number Of Permutations | 302 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.1 |
| p-value | 0.85 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 58 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 32.0 |
| K Statistic | 0.525 |
| p-value | 0.13 |