1MI1.A | NBEA

General Structure Information

PDB ID 1mi1
HGNC Gene Label(s) NBEA
Structure Name crystal structure of the ph-beach domain of human neurobeachin
Resolution 2.9Å
Reference AUTH G.JOGL,Y.SHEN,D.GEBAUER,J.LI,K.WIEGMANN,H.KASHKAR,AUTH 2 M.KRONKE,L.TONGTITL CRYSTAL STRUCTURE OF THE BEACH DOMAIN REVEALS ANTITL 2 UNUSUAL FOLD AND EXTENSIVE ASSOCIATION WITH ATITL 3 NOVEL PH DOMAIN.REF EMBO J. V. 21 4785 2002REFN ISSN 0261-4189PMID 12234919DOI 10.1093/EMBOJ/CDF502

Variant Set Distributions

ExAC Variants

Number Of Residues 406
Number Of SNVs 72
Number Of Permutations 35546
Optimal Distance Threshold 7.0
K Statistic 0.023
p-value 0.202
COSMIC

Number Of Residues 406
Number Of SNVs 10
Number Of Permutations 1530
Optimal Distance Threshold 17.0
K Statistic 0.089
p-value 0.599

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 72
Number Of COSMIC SNVs 12
Optimal Distance Threshold 30.0
K Statistic 0.121
p-value 0.78

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants