1G13.C | GM2A

General Structure Information

PDB ID 1g13
HGNC Gene Label(s) GM2A
Structure Name human gm2 activator structure
Resolution 2.0Å
Reference AUTH C.S.WRIGHT,S.C.LI,F.RASTINEJADTITL CRYSTAL STRUCTURE OF HUMAN GM2-ACTIVATOR PROTEINTITL 2 WITH A NOVEL BETA-CUP TOPOLOGY.REF J.MOL.BIOL. V. 304 411 2000REFN ISSN 0022-2836PMID 11090283DOI 10.1006/JMBI.2000.4225

Variant Set Distributions

ExAC Variants

Number Of Residues 160
Number Of SNVs 42
Number Of Permutations 11332
Optimal Distance Threshold 14.0
K Statistic 0.223
p-value 0.424
ClinVar

Number Of Residues 160
Number Of SNVs 3
Number Of Permutations 153
Optimal Distance Threshold 15.0
K Statistic 0.0
p-value 0.865

Ripley’s K Analysis Plots

ExACClinVar

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 42
Number Of ClinVar SNVs 3
Optimal Distance Threshold 14.0
K Statistic -0.223
p-value 0.861

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants