1U7F.C | SMAD3

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

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants