2O8B.A | MSH2

General Structure Information

PDB ID 2o8b
HGNC Gene Label(s) MSH2
Structure Name human mutsalpha (msh2/msh6) bound to adp and a g t mispair
Resolution 2.75Å
Reference AUTH J.J.WARREN,T.J.POHLHAUS,A.CHANGELA,R.R.IYER,P.L.MODRICH,AUTH 2 L.S.BEESETITL STRUCTURE OF THE HUMAN MUTSALPHA DNA LESION RECOGNITIONTITL 2 COMPLEX.REF MOL.CELL V. 26 579 2007REFN ISSN 1097-2765PMID 17531815DOI 10.1016/J.MOLCEL.2007.04.018

Variant Set Distributions

ExAC Variants

Number Of Residues 831
Number Of SNVs 281
Number Of Permutations 76588
Optimal Distance Threshold 40.0
K Statistic 0.469
p-value 0.173
ClinVar

Number Of Residues 831
Number Of SNVs 42
Number Of Permutations 20447
Optimal Distance Threshold 12.0
K Statistic 0.093
p-value 0.0
COSMIC

Number Of Residues 831
Number Of SNVs 9
Number Of Permutations 2949
Optimal Distance Threshold 5.0
K Statistic 0.028
p-value 0.223

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 281
Number Of ClinVar SNVs 56
Optimal Distance Threshold 13.0
K Statistic 0.03
p-value 0.183
Cosmic vs. ExAC

Number Of ExAC SNVs 281
Number Of COSMIC SNVs 6
Optimal Distance Threshold 20.0
K Statistic 0.212
p-value 0.236

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants