2OO4.A | NOTCH2

General Structure Information

PDB ID 2oo4
HGNC Gene Label(s) NOTCH2
Structure Name structure of lnr-hd (negative regulatory region) from human notch 2
Resolution 2.0Å
Reference AUTH W.R.GORDON,D.VARDAR-ULU,G.HISTEN,C.SANCHEZ-IRIZARRY,AUTH 2 J.C.ASTER,S.C.BLACKLOWTITL STRUCTURAL BASIS FOR AUTOINHIBITION OF NOTCHREF NAT.STRUCT.MOL.BIOL. V. 14 295 2007REFN ISSN 1545-9993PMID 17401372DOI 10.1038/NSMB1227

Variant Set Distributions

ExAC Variants

Number Of Residues 226
Number Of SNVs 49
Number Of Permutations 25156
Optimal Distance Threshold 9.0
K Statistic 0.037
p-value 0.008
COSMIC

Number Of Residues 226
Number Of SNVs 3
Number Of Permutations 109
Optimal Distance Threshold 22.0
K Statistic 0.667
p-value 0.671

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants