General Structure Information
| PDB ID | 1owa |
| HGNC Gene Label(s) | SPTA1 |
| Structure Name | solution structural studies on human erythrocyte alpha spectrin n terminal tetramerization domain |
| Resolution | -1.0Å |
| Reference | AUTH S.PARK,M.S.CAFFREY,M.E.JOHNSON,L.W.FUNGTITL SOLUTION STRUCTURAL STUDIES ON HUMAN ERYTHROCYTETITL 2 ALPHA-SPECTRIN TETRAMERIZATION SITE.REF J.BIOL.CHEM. V. 278 21837 2003REFN ISSN 0021-9258PMID 12672815DOI 10.1074/JBC.M300617200 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 156 |
| Number Of SNVs | 55 |
| Number Of Permutations | 22366 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | 0.339 |
| p-value | 0.018 |
ClinVar
| Number Of Residues | 156 |
| Number Of SNVs | 6 |
| Number Of Permutations | 2058 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.467 |
| p-value | 0.02 |
COSMIC
| Number Of Residues | 156 |
| Number Of SNVs | 8 |
| Number Of Permutations | 4604 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.036 |
| p-value | 0.688 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 55 |
| Number Of ClinVar SNVs | 6 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.372 |
| p-value | 0.004 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 55 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.078 |
| p-value | 0.408 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
