1H7U.B | PMS2

General Structure Information

PDB ID 1h7u
HGNC Gene Label(s) PMS2
Structure Name hpms2-atpgs
Resolution 2.7Å
Reference AUTH A.GUARNE,M.S.JUNOP,W.YANGTITL STRUCTURE AND FUNCTION OF THE N-TERMINAL 40 KDA FRAGMENT OFTITL 2 HUMAN PMS2: A MONOMERIC GHL ATPASEREF EMBO J. V. 20 5521 2001REFN ISSN 0261-4189PMID 11574484DOI 10.1093/EMBOJ/20.19.5521

Variant Set Distributions

ExAC Variants

Number Of Residues 302
Number Of SNVs 102
Number Of Permutations 17905
Optimal Distance Threshold 6.0
K Statistic 0.016
p-value 0.802
ClinVar

Number Of Residues 302
Number Of SNVs 3
Number Of Permutations 221
Optimal Distance Threshold 22.0
K Statistic 0.0
p-value 0.511
COSMIC

Number Of Residues 302
Number Of SNVs 3
Number Of Permutations 109
Optimal Distance Threshold 11.0
K Statistic 0.333
p-value 0.494

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 102
Number Of ClinVar SNVs 3
Optimal Distance Threshold 20.0
K Statistic -0.299
p-value 0.53
Cosmic vs. ExAC

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants