General Structure Information
| PDB ID | 2r4h |
| HGNC Gene Label(s) | MAGI1 |
| Structure Name | crystal structure of a c1190s mutant of the 6th pdz domain of human membrane associated guanylate kinase |
| Resolution | 2.05Å |
| Reference | AUTH E.UGOCHUKWU,E.S.PILKA,V.HOZJAN,K.L.KAVANAGH,C.COOPER,AUTH 2 A.C.W.PIKE,J.M.ELKINS,D.A.DOYLE,F.VON DELFT,M.SUNDSTROM,AUTH 3 C.H.ARROWSMITH,J.WEIGELT,A.M.EDWARDS,U.OPPERMANNTITL CRYSTAL STRUCTURE OF A C1190S MUTANT OF THE 6TH PDZ DOMAINTITL 2 OF HUMAN MEMBRANE ASSOCIATED GUANYLATE KINASE.REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 85 |
| Number Of SNVs | 15 |
| Number Of Permutations | 651 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.067 |
| p-value | 0.876 |
COSMIC
| Number Of Residues | 85 |
| Number Of SNVs | 5 |
| Number Of Permutations | 141 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.2 |
| p-value | 0.737 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 15 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | -0.286 |
| p-value | 0.572 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
