General Structure Information
| PDB ID | 3tt9 |
| HGNC Gene Label(s) | PKP2 |
| Structure Name | crystal structure of the stable degradation fragment of human plakophilin 2 isoform a (pkp2a) c752r variant |
| Resolution | 1.55Å |
| Reference | AUTH F.KIRCHNER,A.SCHUETZ,L.H.BOLDT,K.MARTENS,G.DITTMAR,AUTH 2 W.HAVERKAMP,L.THIERFELDER,U.HEINEMANN,B.GERULLTITL MOLECULAR INSIGHTS INTO ARRHYTHMOGENIC RIGHT VENTRICULARTITL 2 CARDIOMYOPATHY CAUSED BY PLAKOPHILIN-2 MISSENSE MUTATIONS.REF CIRC CARDIOVASC GENET V. 5 400 2012REFN ISSN 1942-325XPMID 22781308DOI 10.1161/CIRCGENETICS.111.961854 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 231 |
| Number Of SNVs | 64 |
| Number Of Permutations | 46549 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.094 |
| p-value | 0.981 |
ClinVar
| Number Of Residues | 231 |
| Number Of SNVs | 12 |
| Number Of Permutations | 8975 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.076 |
| p-value | 0.76 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 64 |
| Number Of ClinVar SNVs | 8 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.102 |
| p-value | 0.305 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
