Assessment of Structural Intolerance and Durability
General Structure Information 2aw5 ME1 crystal structure of a human malic enzyme 2.5Å AUTH E.PAPAGRIGORIOU,G.BERRIDGE,C.SMEE,J.BRAY,AUTH 2 C.ARROWSMITH,A.EDWARDS,J.WEIGELT,M.SUNDSTROM,AUTH 3 U.OPPERMANN,O.GILEADI,F.VON DELFTTITL CRYSTAL STRUCTURE OF A HUMAN MALIC ENZYMEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2hgs GSS human glutathione synthetase 2.1Å AUTH G.POLEKHINA,P.G.BOARD,R.R.GALI,J.ROSSJOHN,AUTH 2 M.W.PARKERTITL MOLECULAR BASIS OF GLUTATHIONE SYNTHETASETITL 2 DEFICIENCY AND A RARE GENE PERMUTATION EVENT.REF EMBO J. V. 18 3204 1999REFN ISSN 0261-4189PMID 10369661DOI 10.1093/EMBOJ/18.12.3204 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3law RAB7A structure of gtp-bound l129f mutant rab7 2.8Å AUTH B.A.MCCRAY,E.SKORDALAKES,J.P.TAYLORTITL DISEASE MUTATIONS IN RAB7 RESULT IN UNREGULATED NUCLEOTIDETITL 2 EXCHANGE AND INAPPROPRIATE ACTIVATION.REF HUM.MOL.GENET. V. 19 1033 2010REFN ISSN 0964-6906PMID 20028791DOI 10.1093/HMG/DDP567 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 4cdg BLM crystal structure of the blooms syndrome helicase blm in complex with nanobody 2.79Å AUTH J.A.NEWMAN,P.SAVITSKY,C.K.ALLERSTON,A.H.BIZARD,O.OZER,AUTH 2 K.SARLOS,Y.LIU,E.PARDON,J.STEYAERT,I.D.HICKSON,O.GILEADITITL CRYSTAL STRUCTURE OF THE BLOOMS SYNDROME HELICASETITL 2 INDICATES A ROLE FOR THE HRDC DOMAIN IN CONFORMATIONALTITL 3 CHANGES.REF NUCLEIC ACIDS RES. V. 43 5221 2015REFN ISSN 0305-1048PMID 25901030DOI 10.1093/NAR/GKV373 Variant Set Distributions […]
General Structure Information 3v53 RBM25 crystal structure of human rbm25 2.9Å AUTH D.S.GONG,F.YANG,F.LI,D.QIAN,M.WU,Z.SHAO,M.WU,J.WU,Y.SHITITL CRYSTAL STRUCTURE AND FUNCTIONAL CHARACTERIZATION OF THETITL 2 HUMAN RBM25 PWI DOMAIN AND ITS FLANKING BASIC REGIONREF BIOCHEM.J. V. 450 85 2013REFN ISSN 0264-6021PMID 23190262DOI 10.1042/BJ20121382 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 1toz NOTCH1 nmr structure of the human notch-1 ligand binding region -1.0Å AUTH S.HAMBLETON,N.V.VALEYEV,A.MURANYI,V.KNOTT,AUTH 2 J.M.WERNER,A.J.MCMICHAEL,P.A.HANDFORD,A.K.DOWNINGTITL STRUCTURAL AND FUNCTIONAL PROPERTIES OF THE HUMANTITL 2 NOTCH-1 LIGAND BINDING REGIONREF STRUCTURE V. 12 2173 2004REFN ISSN 0969-2126PMID 15576031DOI 10.1016/J.STR.2004.09.012 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3pjc JAK3 crystal structure of jak3 complexed with a potent atp site inhibitor showing high selectivity within the janus kinase family 2.2Å AUTH G.THOMA,F.NUNINGER,R.FALCHETTO,E.HERMES,G.A.TAVARES,AUTH 2 E.VANGREVELINGHE,H.G.ZERWESTITL IDENTIFICATION OF A POTENT JANUS KINASE 3 INHIBITOR WITHTITL 2 HIGH SELECTIVITY WITHIN THE JANUS KINASE FAMILY.REF J.MED.CHEM. V. 54 284 2011REFN ISSN 0022-2623PMID 21155605DOI 10.1021/JM101157Q […]
General Structure Information 3f81 DUSP3 interaction of vhr with sa3 1.9Å AUTH S.WU,S.VOSSIUS,S.RAHMOUNI,A.V.MILETIC,T.VANG,AUTH 2 J.VAZQUEZ-RODRIGUEZ,F.CERIGNOLI,Y.ARIMURA,AUTH 3 S.WILLIAMS,T.HAYES,M.MOUTSCHEN,S.VASILE,AUTH 4 M.PELLECCHIA,T.MUSTELIN,L.TAUTZTITL MULTIDENTATE SMALL-MOLECULE INHIBITORS OF VACCINIATITL 2 H1-RELATED (VHR) PHOSPHATASE DECREASE PROLIFERATIONTITL 3 OF CERVIX CANCER CELLS.REF J.MED.CHEM. V. 52 6716 2009REFN ISSN 0022-2623PMID 19888758DOI 10.1021/JM901016K Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]
General Structure Information 3vbb SARS crystal structure of seryl-trna synthetase from human at 2.9 angstroms 2.89Å AUTH X.XU,Y.SHI,H.M.ZHANG,E.C.SWINDELL,A.G.MARSHALL,M.GUO,AUTH 2 S.KISHI,X.L.YANGTITL UNIQUE DOMAIN APPENDED TO VERTEBRATE TRNA SYNTHETASE ISTITL 2 ESSENTIAL FOR VASCULAR DEVELOPMENT.REF NAT COMMUN V. 3 681 2012REFN ESSN 2041-1723PMID 22353712DOI 10.1038/NCOMMS1686 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]
General Structure Information 1s31 TUB crystal structure analysis of the human tub protein (isoform a) spanning residues 289 through 561 2.7Å AUTH S.BOUTBOUL,K.J.CARROLL,A.BASDEVANT,C.GOMEZ,E.NANDROT,AUTH 2 K.CLEMENT,L.SHAPIRO,M.ABITBOLTITL A NOVEL HUMAN OBESITY AND SENSORY DEFICIT SYNDROME RESULTINGTITL 2 FROM A MUTATION IN THE TUB GENEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]