2OKK.A | GAD2

General Structure Information

PDB ID 2okk
HGNC Gene Label(s) GAD2
Structure Name the x-ray crystal structure of the 65kda isoform of glutamic acid decarboxylase (gad65)
Resolution 2.3Å
Reference AUTH G.FENALTI,R.H.LAW,A.M.BUCKLE,C.LANGENDORF,K.TUCK,C.J.ROSADO,AUTH 2 N.G.FAUX,K.MAHMOOD,C.S.HAMPE,J.P.BANGA,M.WILCE,AUTH 3 J.SCHMIDBERGER,J.ROSSJOHN,O.EL-KABBANI,R.N.PIKE,A.I.SMITH,AUTH 4 I.R.MACKAY,M.J.ROWLEY,J.C.WHISSTOCKTITL GABA PRODUCTION BY GLUTAMIC ACID DECARBOXYLASE IS REGULATEDTITL 2 BY A DYNAMIC CATALYTIC LOOP.REF NAT.STRUCT.MOL.BIOL. V. 14 280 2007REFN ISSN 1545-9993PMID 17384644DOI 10.1038/NSMB1228

Variant Set Distributions

ExAC Variants

Number Of Residues 482
Number Of SNVs 108
Number Of Permutations 59277
Optimal Distance Threshold 14.0
K Statistic 0.076
p-value 0.015
COSMIC

Number Of Residues 482
Number Of SNVs 15
Number Of Permutations 5963
Optimal Distance Threshold 11.0
K Statistic 0.019
p-value 0.673

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 108
Number Of COSMIC SNVs 15
Optimal Distance Threshold 11.0
K Statistic -0.023
p-value 0.812

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants