General Structure Information
| PDB ID | 1u7f |
| HGNC Gene Label(s) | SMAD3 |
| Structure Name | crystal structure of the phosphorylated smad3/smad4 heterotrimeric complex |
| Resolution | 2.6Å |
| Reference | AUTH B.M.CHACKO,B.Y.QIN,A.TIWARI,G.SHI,S.LAM,AUTH 2 L.J.HAYWARD,M.DE CAESTECKER,K.LINTITL STRUCTURAL BASIS OF HETEROMERIC SMAD PROTEINTITL 2 ASSEMBLY IN TGF-BETA SIGNALINGREF MOL.CELL V. 15 813 2004REFN ISSN 1097-2765PMID 15350224DOI 10.1016/J.MOLCEL.2004.07.016 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 194 |
| Number Of SNVs | 21 |
| Number Of Permutations | 8581 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.114 |
| p-value | 0.141 |
ClinVar
| Number Of Residues | 194 |
| Number Of SNVs | 8 |
| Number Of Permutations | 3282 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.357 |
| p-value | 0.02 |
COSMIC
| Number Of Residues | 194 |
| Number Of SNVs | 6 |
| Number Of Permutations | 263 |
| Optimal Distance Threshold | 4.0 |
| K Statistic | 0.067 |
| p-value | 0.019 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC



Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 21 |
| Number Of ClinVar SNVs | 8 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.186 |
| p-value | 0.295 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 21 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | 0.51 |
| p-value | 0.182 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis


COSMIC PathProx Analysis

