General Structure Information
| PDB ID | 1i3d |
| HGNC Gene Label(s) | HBG1 |
| Structure Name | human carbonmonoxy hemoglobin barts (gamma4) |
| Resolution | 1.7Å |
| Reference | AUTH R.D.KIDD,H.M.BAKER,A.J.MATHEWS,T.BRITTAIN,E.N.BAKERTITL OLIGOMERIZATION AND LIGAND BINDING IN ATITL 2 HOMOTETRAMERIC HEMOGLOBIN: TWO HIGH-RESOLUTIONTITL 3 CRYSTAL STRUCTURES OF HEMOGLOBIN BARTSTITL 4 (GAMMA(4)), A MARKER FOR ALPHA-THALASSEMIA.REF PROTEIN SCI. V. 10 1739 2001REFN ISSN 0961-8368PMID 11514664DOI 10.1110/PS.11701 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 146 |
| Number Of SNVs | 8 |
| Number Of Permutations | 673 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.5 |
| p-value | 0.002 |
ClinVar
| Number Of Residues | 146 |
| Number Of SNVs | 22 |
| Number Of Permutations | 1915 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.195 |
| p-value | 0.776 |
COSMIC
| Number Of Residues | 146 |
| Number Of SNVs | 4 |
| Number Of Permutations | 292 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.667 |
| p-value | 0.087 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 8 |
| Number Of ClinVar SNVs | 22 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | -0.357 |
| p-value | 0.006 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 8 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.429 |
| p-value | 0.691 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
