1EJ5.A | WAS

General Structure Information

PDB ID 1ej5
HGNC Gene Label(s) WAS
Structure Name solution structure of the autoinhibited conformation of wasp
Resolution -1.0Å
Reference AUTH A.S.KIM,L.T.KAKALIS,N.ABDUL-MANAN,G.A.LIU,M.K.ROSENTITL AUTOINHIBITION AND ACTIVATION MECHANISMS OF THETITL 2 WISKOTT-ALDRICH SYNDROME PROTEIN.REF NATURE V. 404 151 2000REFN ISSN 0028-0836PMID 10724160DOI 10.1038/35010088

Variant Set Distributions

ExAC Variants

Number Of Residues 107
Number Of SNVs 10
Number Of Permutations 6131
Optimal Distance Threshold 18.0
K Statistic 0.267
p-value 0.067
ClinVar

Number Of Residues 107
Number Of SNVs 4
Number Of Permutations 944
Optimal Distance Threshold 8.0
K Statistic 0.333
p-value 0.274
COSMIC

Number Of Residues 107
Number Of SNVs 3
Number Of Permutations 109
Optimal Distance Threshold 19.0
K Statistic 0.333
p-value 0.981

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 10
Number Of ClinVar SNVs 4
Optimal Distance Threshold 8.0
K Statistic 0.289
p-value 0.14
Cosmic vs. ExAC

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants