General Structure Information
| PDB ID | 1ekg |
| HGNC Gene Label(s) | FXN |
| Structure Name | mature human frataxin |
| Resolution | 1.8Å |
| Reference | AUTH S.DHE-PAGANON,R.SHIGETA,Y.I.CHI,M.RISTOW,AUTH 2 S.E.SHOELSONTITL CRYSTAL STRUCTURE OF HUMAN FRATAXIN.REF J.BIOL.CHEM. V. 275 30753 2000REFN ISSN 0021-9258PMID 10900192DOI 10.1074/JBC.C000407200 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 119 |
| Number Of SNVs | 30 |
| Number Of Permutations | 7897 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.216 |
| p-value | 0.253 |
ClinVar
| Number Of Residues | 119 |
| Number Of SNVs | 4 |
| Number Of Permutations | 437 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.833 |
| p-value | 0.061 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 30 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.649 |
| p-value | 0.044 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
