Assessment of Structural Intolerance and Durability
General Structure Information 2i3c ASPA crystal structure of an aspartoacylase from homo sapiens 2.8Å AUTH E.BITTO,C.A.BINGMAN,G.E.WESENBERG,J.G.MCCOY,AUTH 2 G.N.PHILLIPSTITL STRUCTURE OF ASPARTOACYLASE, THE BRAIN ENZYMETITL 2 IMPAIRED IN CANAVAN DISEASE.REF PROC.NATL.ACAD.SCI.USA V. 104 456 2007REFN ISSN 0027-8424PMID 17194761DOI 10.1073/PNAS.0607817104 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 1jm7 BRCA1 solution structure of the brca1/bard1 ring-domain heterodimer -1.0Å AUTH P.S.BRZOVIC,P.RAJAGOPAL,D.W.HOYT,M.C.KING,AUTH 2 R.E.KLEVITTITL STRUCTURE OF A BRCA1-BARD1 HETERODIMERIC RING-RINGTITL 2 COMPLEX.REF NAT.STRUCT.BIOL. V. 8 833 2001REFN ISSN 1072-8368PMID 11573085DOI 10.1038/NSB1001-833 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 1fb1 GCH1 crystal structure of human gtp cyclohydrolase i 3.1Å AUTH G.AUERBACH,A.HERRMANN,A.BRACHER,G.BADER,M.GUTLICH,M.FISCHER,AUTH 2 M.NEUKAMM,M.GARRIDO-FRANCO,J.RICHARDSON,H.NAR,R.HUBER,AUTH 3 A.BACHERTITL ZINC PLAYS A KEY ROLE IN HUMAN AND BACTERIAL GTPTITL 2 CYCLOHYDROLASE I.REF PROC.NATL.ACAD.SCI.USA V. 97 13567 2000REFN ISSN 0027-8424PMID 11087827DOI 10.1073/PNAS.240463497 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]
General Structure Information 2lly CHRNA4 nmr structures of the transmembrane domains of the nachr a4 subunit -1.0Å AUTH V.BONDARENKO,D.MOWREY,T.TILLMAN,T.CUI,L.T.LIU,Y.XU,P.TANGTITL NMR STRUCTURES OF THE TRANSMEMBRANE DOMAINS OF THE A4B2TITL 2 NACHR.REF BIOCHIM.BIOPHYS.ACTA V.1818 1261 2012REFN ISSN 0006-3002PMID 22361591DOI 10.1016/J.BBAMEM.2012.02.008 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 4mle GCK human glucokinase in complex with novel amino thiazole activator 2.6Å AUTH R.J.HINKLIN,S.A.BOYD,M.J.CHICARELLI,K.R.CONDROSKI,AUTH 2 W.E.DEWOLF,P.A.LEE,W.LEE,A.SINGH,L.THOMAS,W.C.VOEGTLI,AUTH 3 L.WILLIAMS,T.D.AICHERTITL IDENTIFICATION OF A NEW CLASS OF GLUCOKINASE ACTIVATORSTITL 2 THROUGH STRUCTURE-BASED DESIGN.REF J.MED.CHEM. V. 56 7669 2013REFN ISSN 0022-2623PMID 24015910DOI 10.1021/JM401116K Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]
General Structure Information 2o8b MSH2 human mutsalpha (msh2/msh6) bound to adp and a g t mispair 2.75Å AUTH J.J.WARREN,T.J.POHLHAUS,A.CHANGELA,R.R.IYER,P.L.MODRICH,AUTH 2 L.S.BEESETITL STRUCTURE OF THE HUMAN MUTSALPHA DNA LESION RECOGNITIONTITL 2 COMPLEX.REF MOL.CELL V. 26 579 2007REFN ISSN 1097-2765PMID 17531815DOI 10.1016/J.MOLCEL.2007.04.018 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2v5e GDNF the structure of the gdnf:coreceptor complex: insights into ret signalling and heparin binding. 2.35Å AUTH V.PARKASH,V.-M.LEPPANEN,H.VIRTANEN,J.-M.JURVANSUU,AUTH 2 M.M.BESPALOV,Y.A.SIDOROVA,P.RUNEBERG-ROOS,M.SAARMA,AUTH 3 A.GOLDMANTITL THE STRUCTURE OF THE GLIAL CELL LINE-DERIVEDTITL 2 NEUROTROPHIC FACTOR-CORECEPTOR COMPLEX: INSIGHTSTITL 3 INTO RET SIGNALING AND HEPARIN BINDING.REF J.BIOL.CHEM. V. 283 35164 2008REFN ISSN 0021-9258PMID 18845535DOI 10.1074/JBC.M802543200 Variant Set […]
General Structure Information 3rch DDC crystal structure of human aromatic l-amino acid decarboxylase (aadc) in the open conformation with llp and plp bound to chain-a and chain- b respectively 2.8Å AUTH G.GIARDINA,R.MONTIOLI,S.GIANNI,B.CELLINI,A.PAIARDINI,AUTH 2 C.B.VOLTATTORNI,F.CUTRUZZOLATITL OPEN CONFORMATION OF HUMAN DOPA DECARBOXYLASE REVEALS THETITL 2 MECHANISM OF PLP ADDITION TO GROUP II DECARBOXYLASES.REF PROC.NATL.ACAD.SCI.USA V. 108 20514 […]
General Structure Information 2ib9 ACAT1 crystallographic and kinetic studies of human mitochondrial acetoacetyl-coa thiolase (t2): the importance of potassium and chloride for its structure and function 2.05Å AUTH A.M.HAAPALAINEN,G.MERILAINEN,P.L.PIRILA,N.KONDO,T.FUKAO,AUTH 2 R.K.WIERENGATITL CRYSTALLOGRAPHIC AND KINETIC STUDIES OF HUMAN MITOCHONDRIALTITL 2 ACETOACETYL-COA THIOLASE: THE IMPORTANCE OF POTASSIUM ANDTITL 3 CHLORIDE IONS FOR ITS STRUCTURE AND FUNCTIONREF BIOCHEMISTRY […]
General Structure Information 1iil FGFR2 crystal structure of pro253arg apert mutant fgf receptor 2 (fgfr2) in complex with fgf2 2.3Å AUTH O.A.IBRAHIMI,A.V.ELISEENKOVA,A.N.PLOTNIKOV,K.YU,AUTH 2 D.M.ORNITZ,M.MOHAMMADITITL STRUCTURAL BASIS FOR FIBROBLAST GROWTH FACTORTITL 2 RECEPTOR 2 ACTIVATION IN APERT SYNDROME.REF PROC.NATL.ACAD.SCI.USA V. 98 7182 2001REFN ISSN 0027-8424PMID 11390973DOI 10.1073/PNAS.121183798 Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]