General Structure Information
| PDB ID | 1nq0 |
| HGNC Gene Label(s) | THRB |
| Structure Name | tr receptor mutations conferring hormone resistance and reduced corepressor release exhibit decreased stability in the nterminal lbd |
| Resolution | 2.4Å |
| Reference | AUTH B.R.HUBER,M.DESCLOZEAUX,B.L.WEST,S.T.CUNHA-LIMA,H.T.NGUYEN,AUTH 2 J.D.BAXTER,H.A.INGRAHAM,R.J.FLETTERICKTITL THYROID HORMONE RECEPTOR-BETA MUTATIONS CONFERRING HORMONETITL 2 RESISTANCE AND REDUCED COREPRESSOR RELEASE EXHIBIT DECREASEDTITL 3 STABILITY IN THE N-TERMINAL LIGAND-BINDING DOMAINREF MOL.ENDOCRINOL. V. 17 107 2003REFN ISSN 0888-8809PMID 12511610DOI 10.1210/ME.2002-0097 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 250 |
| Number Of SNVs | 23 |
| Number Of Permutations | 4079 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.063 |
| p-value | 0.176 |
ClinVar
| Number Of Residues | 250 |
| Number Of SNVs | 21 |
| Number Of Permutations | 3636 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.305 |
| p-value | 0.0 |
COSMIC
| Number Of Residues | 250 |
| Number Of SNVs | 3 |
| Number Of Permutations | 18 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.333 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 23 |
| Number Of ClinVar SNVs | 20 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.2 |
| p-value | 0.0 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 23 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | -0.249 |
| p-value | 0.651 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
