General Structure Information
| PDB ID | 3r6n |
| HGNC Gene Label(s) | DSP |
| Structure Name | crystal structure of a rigid four spectrin repeat fragment of the human desmoplakin plakin domain |
| Resolution | 2.95Å |
| Reference | AUTH H.J.CHOI,W.I.WEISTITL CRYSTAL STRUCTURE OF A RIGID FOUR-SPECTRIN-REPEAT FRAGMENTTITL 2 OF THE HUMAN DESMOPLAKIN PLAKIN DOMAIN.REF J.MOL.BIOL. V. 409 800 2011REFN ISSN 0022-2836PMID 21536047DOI 10.1016/J.JMB.2011.04.046 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 450 |
| Number Of SNVs | 112 |
| Number Of Permutations | 86599 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.012 |
| p-value | 0.176 |
ClinVar
| Number Of Residues | 450 |
| Number Of SNVs | 9 |
| Number Of Permutations | 13026 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.056 |
| p-value | 0.978 |
COSMIC
| Number Of Residues | 450 |
| Number Of SNVs | 7 |
| Number Of Permutations | 4555 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.238 |
| p-value | 0.207 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 112 |
| Number Of ClinVar SNVs | 8 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.066 |
| p-value | 0.682 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 112 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 67.0 |
| K Statistic | 0.374 |
| p-value | 0.088 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
