General Structure Information
| PDB ID | 2okj |
| HGNC Gene Label(s) | GAD1 |
| Structure Name | the x-ray crystal structure of the 67kda isoform of glutamic acid decarboxylase (gad67) |
| Resolution | 2.3Å |
| Reference | AUTH G.FENALTI,R.H.P.LAW,A.M.BUCKLE,C.LANGENDORF,K.TUCK,AUTH 2 C.J.ROSADO,N.G.FAUX,K.MAHMOOD,C.S.HAMPE,J.P.BANGA,AUTH 3 M.WILCE,J.SCHMIDBERGER,J.ROSSJOHN,O.EL-KABBANI,AUTH 4 R.N.PIKE,A.I.SMITH,I.R.MACKAY,M.J.ROWLEY,AUTH 5 J.C.WHISSTOCKTITL GABA PRODUCTION BY GLUTAMIC ACID DECARBOXYLASE ISTITL 2 REGULATED 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 | 501 |
| Number Of SNVs | 86 |
| Number Of Permutations | 22590 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.136 |
| p-value | 0.255 |
COSMIC
| Number Of Residues | 501 |
| Number Of SNVs | 12 |
| Number Of Permutations | 3125 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.03 |
| p-value | 0.621 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 86 |
| Number Of COSMIC SNVs | 8 |
| Optimal Distance Threshold | 25.0 |
| K Statistic | -0.16 |
| p-value | 0.769 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
