1WLX.A | ACTN4

General Structure Information

PDB ID 1wlx
HGNC Gene Label(s) ACTN4
Structure Name solution structure of the third spectrin repeat of alpha- actinin-4
Resolution -1.0Å
Reference AUTH K.KOWALSKI,A.L.MERKEL,G.W.BOOKERTITL SOLUTION STRUCTURE OF THE THIRD SPECTRIN REPEAT OFTITL 2 ALPHA-ACTININ-4REF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues 127
Number Of SNVs 27
Number Of Permutations 18048
Optimal Distance Threshold 17.0
K Statistic 0.481
p-value 0.022
COSMIC

Number Of Residues 127
Number Of SNVs 3
Number Of Permutations 189
Optimal Distance Threshold 49.0
K Statistic 0.667
p-value 0.396

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 27
Number Of COSMIC SNVs 3
Optimal Distance Threshold 26.0
K Statistic -0.715
p-value 0.025

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants