General Structure Information
| PDB ID | 3uom |
| HGNC Gene Label(s) | CASQ1 |
| Structure Name | ca2+ complex of human skeletal calsequestrin |
| Resolution | 2.02Å |
| Reference | AUTH E.J.SANCHEZ,K.M.LEWIS,B.R.DANNA,C.KANGTITL HIGH-CAPACITY CA2+ BINDING OF HUMAN SKELETAL CALSEQUESTRIN.REF J.BIOL.CHEM. V. 287 11592 2012REFN ISSN 0021-9258PMID 22337878DOI 10.1074/JBC.M111.335075 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 350 |
| Number Of SNVs | 93 |
| Number Of Permutations | 16421 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.248 |
| p-value | 0.357 |
COSMIC
| Number Of Residues | 350 |
| Number Of SNVs | 3 |
| Number Of Permutations | 176 |
| Optimal Distance Threshold | 50.0 |
| K Statistic | 0.333 |
| p-value | 0.049 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
