Assessment of Structural Intolerance and Durability
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 2le3 CPT1A n-terminal regulatory segment of carnitine palmitoyltransferase 1a -1.0Å AUTH J.N.RAO,G.Z.WARREN,S.ESTOLT-POVEDANO,V.A.ZAMMIT,T.S.ULMERTITL AN ENVIRONMENT-DEPENDENT STRUCTURAL SWITCH UNDERLIES THETITL 2 REGULATION OF CARNITINE PALMITOYLTRANSFERASE 1A.REF J.BIOL.CHEM. V. 286 42545 2011REFN ISSN 0021-9258PMID 21990363DOI 10.1074/JBC.M111.306951 Variant Set Distributions Mapped Variants
General Structure Information 1ikt HSD17B4 liganded sterol carrier protein type 2 (scp-2) like domain of human multifunctional enzyme type 2 (mfe-2) 1.75Å AUTH A.M.HAAPALAINEN,D.M.VAN AALTEN,G.MERILAINEN,AUTH 2 J.E.JALONEN,P.PIRILA,R.K.WIERENGA,J.K.HILTUNEN,AUTH 3 T.GLUMOFFTITL CRYSTAL STRUCTURE OF THE LIGANDED SCP-2-LIKETITL 2 DOMAIN OF HUMAN PEROXISOMAL MULTIFUNCTIONAL ENZYMETITL 3 TYPE 2 AT 1.75 A RESOLUTION.REF J.MOL.BIOL. V. 313 1127 2001REFN ISSN […]
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 2dmw VAMP7 solution structure of the longin domain of synaptobrevin- like protein 1 -1.0Å AUTH S.OHNISHI,M.SATO,S.KOSHIBA,M.INOUE,T.KIGAWA,AUTH 2 S.YOKOYAMATITL SOLUTION STRUCTURE OF THE LONGIN DOMAIN OFTITL 2 SYNAPTOBREVIN-LIKE PROTEIN 1REF TO BE PUBLISHEDREFN Variant Set Distributions 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 2do0 HNRNPM solution structure of the rna binding domain of heterogeneous nuclear ribonucleoprotein m -1.0Å AUTH S.SUZUKI,Y.MUTO,M.INOUE,T.KIGAWA,T.TERADA,AUTH 2 M.SHIROUZU,S.YOKOYAMATITL SOLUTION STRUCTURE OF THE RNA BINDING DOMAIN OFTITL 2 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN MREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants