3N5N.X | MUTYH

General Structure Information

PDB ID 3n5n
HGNC Gene Label(s) MUTYH
Structure Name crystal structure analysis of the catalytic domain and interdomain connector of human muty homologue
Resolution 2.3Å
Reference AUTH P.J.LUNCSFORD,D.Y.CHANG,G.SHI,J.BERNSTEIN,A.MADABUSHI,AUTH 2 D.N.PATTERSON,A.L.LU,E.A.TOTHTITL A STRUCTURAL HINGE IN EUKARYOTIC MUTY HOMOLOGUES MEDIATESTITL 2 CATALYTIC ACTIVITY AND RAD9-RAD1-HUS1 CHECKPOINT COMPLEXTITL 3 INTERACTIONS.REF J.MOL.BIOL. V. 403 351 2010REFN ISSN 0022-2836PMID 20816984DOI 10.1016/J.JMB.2010.08.045

Variant Set Distributions

ExAC Variants

Number Of Residues 271
Number Of SNVs 88
Number Of Permutations 40345
Optimal Distance Threshold 20.0
K Statistic 0.344
p-value 0.172
ClinVar

Number Of Residues 271
Number Of SNVs 10
Number Of Permutations 4023
Optimal Distance Threshold 11.0
K Statistic 0.244
p-value 0.055
COSMIC

Number Of Residues 271
Number Of SNVs 10
Number Of Permutations 14944
Optimal Distance Threshold 16.0
K Statistic 0.067
p-value 0.206

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 88
Number Of ClinVar SNVs 8
Optimal Distance Threshold 11.0
K Statistic 0.237
p-value 0.022
Cosmic vs. ExAC

Number Of ExAC SNVs 88
Number Of COSMIC SNVs 9
Optimal Distance Threshold 16.0
K Statistic -0.186
p-value 0.053

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants