General Structure Information
| PDB ID | 1r03 |
| HGNC Gene Label(s) | FTMT |
| Structure Name | crystal structure of a human mitochondrial ferritin |
| Resolution | 1.7Å |
| Reference | AUTH B.LANGLOIS DESTAINTOT,P.SANTAMBROGIO,T.GRANIER,B.GALLOIS,AUTH 2 J.M.CHEVALLIER,G.PRECIGOUX,S.LEVI,P.AROSIOTITL CRYSTAL STRUCTURE AND BIOCHEMICAL PROPERTIES OF THE HUMANTITL 2 MITOCHONDRIAL FERRITIN AND ITS MUTANT SER144ALAREF J.MOL.BIOL. V. 340 277 2004REFN ISSN 0022-2836PMID 15201052DOI 10.1016/J.JMB.2004.04.036 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 171 |
| Number Of SNVs | 48 |
| Number Of Permutations | 9340 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.417 |
| p-value | 0.333 |
COSMIC
| Number Of Residues | 171 |
| Number Of SNVs | 12 |
| Number Of Permutations | 12673 |
| Optimal Distance Threshold | 25.0 |
| K Statistic | 0.394 |
| p-value | 0.002 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 48 |
| Number Of COSMIC SNVs | 9 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | -0.176 |
| p-value | 0.015 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis

