1G88.A | SMAD4

General Structure Information

PDB ID 1g88
HGNC Gene Label(s) SMAD4
Structure Name s4afl3arg515 mutant
Resolution 3.0Å
Reference AUTH B.M.CHACKO,B.QIN,J.J.CORREIA,S.S.LAM,AUTH 2 M.P.DE CAESTECKER,K.LINTITL THE L3 LOOP AND C-TERMINAL PHOSPHORYLATION JOINTLYTITL 2 DEFINE SMAD PROTEIN TRIMERIZATION.REF NAT.STRUCT.BIOL. V. 8 248 2001REFN ISSN 1072-8368PMID 11224571DOI 10.1038/84995

Variant Set Distributions

ExAC Variants

Number Of Residues 221
Number Of SNVs 16
Number Of Permutations 6536
Optimal Distance Threshold 7.0
K Statistic 0.008
p-value 0.213
ClinVar

Number Of Residues 221
Number Of SNVs 20
Number Of Permutations 8301
Optimal Distance Threshold 9.0
K Statistic 0.142
p-value 0.003
COSMIC

Number Of Residues 221
Number Of SNVs 41
Number Of Permutations 7694
Optimal Distance Threshold 8.0
K Statistic 0.074
p-value 0.011

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 16
Number Of ClinVar SNVs 20
Optimal Distance Threshold 9.0
K Statistic 0.1
p-value 0.0
Cosmic vs. ExAC

Number Of ExAC SNVs 16
Number Of COSMIC SNVs 28
Optimal Distance Threshold 20.0
K Statistic 0.223
p-value 0.021

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants