2R3V.D | MVK

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

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants