General Structure Information
| PDB ID | 3vfd |
| HGNC Gene Label(s) | SPAST |
| Structure Name | human spastin aaa domain |
| Resolution | 3.3Å |
| Reference | AUTH J.L.TAYLOR,S.R.WHITE,B.LAURING,F.J.KULLTITL CRYSTAL STRUCTURE OF THE HUMAN SPASTIN AAA DOMAIN.REF J.STRUCT.BIOL. V. 179 133 2012REFN ISSN 1047-8477PMID 22446388DOI 10.1016/J.JSB.2012.03.002 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 266 |
| Number Of SNVs | 29 |
| Number Of Permutations | 19536 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.025 |
| p-value | 0.28 |
ClinVar
| Number Of Residues | 266 |
| Number Of SNVs | 11 |
| Number Of Permutations | 7443 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.145 |
| p-value | 0.417 |
COSMIC
| Number Of Residues | 266 |
| Number Of SNVs | 3 |
| Number Of Permutations | 255 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | 0.667 |
| p-value | 0.52 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 29 |
| Number Of ClinVar SNVs | 11 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.072 |
| p-value | 0.214 |
Cosmic vs. ExAC
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
