General Structure Information
| PDB ID | 2hb8 |
| HGNC Gene Label(s) | VDR |
| Structure Name | crystal structure of vdr lbd in complex with 2alpha-methyl calcitriol |
| Resolution | 2.0Å |
| Reference | AUTH S.HOURAI,T.FUJISHIMA,A.KITTAKA,Y.SUHARA,H.TAKAYAMA,AUTH 2 N.ROCHEL,D.MORASTITL PROBING A WATER CHANNEL NEAR THE A-RING OFTITL 2 RECEPTOR-BOUND 1ALPHA,25-DIHYDROXYVITAMIN D3 WITHTITL 3 SELECTED 2ALPHA-SUBSTITUTED ANALOGUESREF J.MED.CHEM. V. 49 5199 2006REFN ISSN 0022-2623PMID 16913708DOI 10.1021/JM0604070 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 254 |
| Number Of SNVs | 49 |
| Number Of Permutations | 23996 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.025 |
| p-value | 0.874 |
ClinVar
| Number Of Residues | 254 |
| Number Of SNVs | 6 |
| Number Of Permutations | 1995 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.533 |
| p-value | 0.86 |
COSMIC
| Number Of Residues | 254 |
| Number Of SNVs | 3 |
| Number Of Permutations | 18 |
| Optimal Distance Threshold | 24.0 |
| K Statistic | 0.333 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 49 |
| Number Of ClinVar SNVs | 6 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | -0.136 |
| p-value | 0.637 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 49 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | -0.357 |
| p-value | 0.143 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
