4DVQ.J | CYP11B2

General Structure Information

PDB ID 4dvq
HGNC Gene Label(s) CYP11B2
Structure Name structure of human aldosterone synthase, cyp11b2, in complex with deoxycorticosterone
Resolution 2.49Å
Reference AUTH N.STRUSHKEVICH,A.A.GILEP,L.SHEN,C.H.ARROWSMITH,A.M.EDWARDS,AUTH 2 S.A.USANOV,H.W.PARKTITL STRUCTURAL INSIGHTS INTO ALDOSTERONE SYNTHASE SUBSTRATETITL 2 SPECIFICITY AND TARGETED INHIBITION.REF MOL.ENDOCRINOL. V. 27 315 2013REFN ISSN 0888-8809PMID 23322723DOI 10.1210/ME.2012-1287

Variant Set Distributions

ExAC Variants

Number Of Residues 462
Number Of SNVs 122
Number Of Permutations 50588
Optimal Distance Threshold 7.0
K Statistic 0.014
p-value 0.89
ClinVar

Number Of Residues 462
Number Of SNVs 6
Number Of Permutations 2304
Optimal Distance Threshold 11.0
K Statistic 0.2
p-value 0.233
COSMIC

Number Of Residues 462
Number Of SNVs 8
Number Of Permutations 1672
Optimal Distance Threshold 16.0
K Statistic 0.214
p-value 0.383

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 122
Number Of ClinVar SNVs 6
Optimal Distance Threshold 5.0
K Statistic 0.064
p-value 0.209
Cosmic vs. ExAC

Number Of ExAC SNVs 122
Number Of COSMIC SNVs 4
Optimal Distance Threshold 22.0
K Statistic -0.287
p-value 0.37

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants