General Structure Information
| PDB ID | 3na0 |
| HGNC Gene Label(s) | CYP11A1 |
| Structure Name | crystal structure of human cyp11a1 in complex with 20,22- dihydroxycholesterol |
| Resolution | 2.5Å |
| Reference | AUTH N.STRUSHKEVICH,F.MACKENZIE,T.CHERKESOVA,I.GRABOVEC,S.USANOV,AUTH 2 H.W.PARKTITL STRUCTURAL BASIS FOR PREGNENOLONE BIOSYNTHESIS BY THETITL 2 MITOCHONDRIAL MONOOXYGENASE SYSTEM.REF PROC.NATL.ACAD.SCI.USA V. 108 10139 2011REFN ISSN 0027-8424PMID 21636783DOI 10.1073/PNAS.1019441108 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 470 |
| Number Of SNVs | 117 |
| Number Of Permutations | 21990 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.033 |
| p-value | 0.697 |
ClinVar
| Number Of Residues | 470 |
| Number Of SNVs | 6 |
| Number Of Permutations | 853 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.067 |
| p-value | 0.626 |
COSMIC
| Number Of Residues | 470 |
| Number Of SNVs | 11 |
| Number Of Permutations | 8058 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.091 |
| p-value | 0.977 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 117 |
| Number Of ClinVar SNVs | 6 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | -0.107 |
| p-value | 0.635 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 117 |
| Number Of COSMIC SNVs | 11 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | -0.02 |
| p-value | 0.864 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
