General Structure Information
| PDB ID | 2vaf |
| HGNC Gene Label(s) | CASQ2 |
| Structure Name | crystal structure of human cardiac calsequestrin |
| Resolution | 3.8Å |
| Reference | AUTH E.KIM,B.YOUN,L.KEMPER,C.CAMPBELL,H.MILTING,AUTH 2 M.VARSANYI,C.KANGTITL CHARACTERIZATION OF HUMAN CARDIAC CALSEQUESTRINTITL 2 AND ITS DELETERIOUS MUTANTS.REF J.MOL.BIOL. V. 373 1047 2007REFN ISSN 0022-2836PMID 17881003DOI 10.1016/J.JMB.2007.08.055 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 349 |
| Number Of SNVs | 98 |
| Number Of Permutations | 43036 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.236 |
| p-value | 0.323 |
ClinVar
| Number Of Residues | 349 |
| Number Of SNVs | 8 |
| Number Of Permutations | 3614 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.071 |
| p-value | 0.201 |
COSMIC
| Number Of Residues | 349 |
| Number Of SNVs | 4 |
| Number Of Permutations | 41 |
| Optimal Distance Threshold | 24.0 |
| K Statistic | 0.167 |
| p-value | 0.764 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 98 |
| Number Of ClinVar SNVs | 8 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.066 |
| p-value | 0.248 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 98 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | -0.286 |
| p-value | 0.513 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
