General Structure Information
| PDB ID | 1shr |
| HGNC Gene Label(s) | HBD |
| Structure Name | crystal structure of ferrocyanide bound human hemoglobin a2 at 1.88a resolution |
| Resolution | 1.88Å |
| Reference | AUTH U.SEN,J.DASGUPTA,D.CHOUDHURY,P.DATTA,A.CHAKRABARTI,AUTH 2 S.B.CHAKRABARTY,A.CHAKRABARTY,J.K.DATTAGUPTATITL CRYSTAL STRUCTURES OF HBA2 AND HBE AND MODELING OFTITL 2 HEMOGLOBIN DELTA4: INTERPRETATION OF THE THERMALTITL 3 STABILITY AND THE ANTISICKLING EFFECT OF HBA2 ANDTITL 4 IDENTIFICATION OF THE FERROCYANIDE BINDING SITE INTITL 5 HBREF BIOCHEMISTRY V. 43 12477 2004REFN ISSN 0006-2960PMID 15449937DOI 10.1021/BI048903I |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 146 |
| Number Of SNVs | 42 |
| Number Of Permutations | 11769 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.29 |
| p-value | 0.324 |
ClinVar
| Number Of Residues | 146 |
| Number Of SNVs | 31 |
| Number Of Permutations | 9528 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.232 |
| p-value | 0.741 |
COSMIC
| Number Of Residues | 146 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1245 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.1 |
| p-value | 0.781 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 42 |
| Number Of ClinVar SNVs | 31 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | -0.058 |
| p-value | 0.504 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 42 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.378 |
| p-value | 0.638 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
