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

