General Structure Information
| PDB ID | 3kq4 |
| HGNC Gene Label(s) | CUBN |
| Structure Name | structure of intrinsic factor-cobalamin bound to its receptor cubilin |
| Resolution | 3.3Å |
| Reference | AUTH C.B.ANDERSEN,M.MADSEN,T.STORM,S.K.MOESTRUP,G.R.ANDERSENTITL STRUCTURAL BASIS FOR RECEPTOR RECOGNITION OFTITL 2 VITAMIN-B(12)-INTRINSIC FACTOR COMPLEXES.REF NATURE V. 464 445 2010REFN ISSN 0028-0836PMID 20237569DOI 10.1038/NATURE08874 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 457 |
| Number Of SNVs | 116 |
| Number Of Permutations | 61409 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.076 |
| p-value | 0.018 |
ClinVar
| Number Of Residues | 457 |
| Number Of SNVs | 4 |
| Number Of Permutations | 1078 |
| Optimal Distance Threshold | 25.0 |
| K Statistic | 0.833 |
| p-value | 0.274 |
COSMIC
| Number Of Residues | 457 |
| Number Of SNVs | 8 |
| Number Of Permutations | 1795 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.071 |
| p-value | 0.933 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 116 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 25.0 |
| K Statistic | 0.555 |
| p-value | 0.255 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 116 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.099 |
| p-value | 0.774 |