General Structure Information
| PDB ID | 2r3v |
| HGNC Gene Label(s) | MVK |
| Structure Name | the biochemical and structural basis for feedback inhibition of mevalonate kinase and isoprenoid metabolism |
| Resolution | 2.5Å |
| Reference | AUTH Z.FU,N.E.VOYNOVA,T.J.HERDENDORF,H.M.MIZIORKO,AUTH 2 J.J.KIMTITL BIOCHEMICAL AND STRUCTURAL BASIS FOR FEEDBACKTITL 2 INHIBITION OF MEVALONATE KINASE AND ISOPRENOIDTITL 3 METABOLISM.REF BIOCHEMISTRY V. 47 3715 2008REFN ISSN 0006-2960PMID 18302342DOI 10.1021/BI7024386 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 389 |
| Number Of SNVs | 99 |
| Number Of Permutations | 17973 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | 0.298 |
| p-value | 0.196 |
ClinVar
| Number Of Residues | 389 |
| Number Of SNVs | 12 |
| Number Of Permutations | 2208 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.076 |
| p-value | 0.054 |
COSMIC
| Number Of Residues | 389 |
| Number Of SNVs | 5 |
| Number Of Permutations | 674 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.4 |
| p-value | 0.366 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC



Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 99 |
| Number Of ClinVar SNVs | 12 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.056 |
| p-value | 0.031 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 99 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.23 |
| p-value | 0.263 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis


COSMIC PathProx Analysis

