4BZY.A | GBE1

General Structure Information

PDB ID 4bzy
HGNC Gene Label(s) GBE1
Structure Name crystal structure of human glycogen branching enzyme (gbe1)
Resolution 2.75Å
Reference AUTH D.S.FROESE,A.MICHAELI,T.J.MCCORVIE,T.KROJER,M.SASI,E.MELAEV,AUTH 2 A.GOLDBLUM,M.ZATSEPIN,A.LOSSOS,R.ALVAREZ,P.V.ESCRIBA,AUTH 3 B.A.MINAISSAN,F.VON DELFT,O.KAKHLON,W.W.YUETITL STRUCTURAL BASIS OF GLYCOGEN BRANCHING ENZYME DEFICIENCYTITL 2 AND PHARMACOLOGIC RESCUE BY RATIONAL PEPTIDE DESIGN.REF HUM.MOL.GENET. V. 24 5667 2015REFN ISSN 0964-6906PMID 26199317DOI 10.1093/HMG/DDV280

Variant Set Distributions

ExAC Variants

Number Of Residues 637
Number Of SNVs 182
Number Of Permutations 50906
Optimal Distance Threshold 15.0
K Statistic 0.08
p-value 0.218
ClinVar

Number Of Residues 637
Number Of SNVs 9
Number Of Permutations 2653
Optimal Distance Threshold 20.0
K Statistic 0.389
p-value 0.106
COSMIC

Number Of Residues 637
Number Of SNVs 11
Number Of Permutations 15377
Optimal Distance Threshold 18.0
K Statistic 0.073
p-value 0.913

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 182
Number Of ClinVar SNVs 9
Optimal Distance Threshold 20.0
K Statistic 0.22
p-value 0.086
Cosmic vs. ExAC

Number Of ExAC SNVs 182
Number Of COSMIC SNVs 10
Optimal Distance Threshold 18.0
K Statistic -0.064
p-value 0.794

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants