Assessment of Structural Intolerance and Durability
General Structure Information 1jr2 UROS structure of uroporphyrinogen iii synthase 1.84Å AUTH M.A.MATHEWS,H.L.SCHUBERT,F.G.WHITBY,K.J.ALEXANDER,AUTH 2 K.SCHADICK,H.A.BERGONIA,J.D.PHILLIPS,C.P.HILLTITL CRYSTAL STRUCTURE OF HUMAN UROPORPHYRINOGEN IIITITL 2 SYNTHASE.REF EMBO J. V. 20 5832 2001REFN ISSN 0261-4189PMID 11689424DOI 10.1093/EMBOJ/20.21.5832 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 4mwt CTSA crystal structure of human ppca (trigonal crystal form 2) 3.85Å AUTH N.KOLLI,S.C.GARMANTITL PROTEOLYTIC ACTIVATION OF HUMAN CATHEPSIN A.REF J.BIOL.CHEM. V. 289 11592 2014REFN ISSN 0021-9258PMID 24599961DOI 10.1074/JBC.M113.524280 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3eqm CYP19A1 crystal structure of human placental aromatase cytochrome p450 in complex with androstenedione 2.9Å AUTH D.GHOSH,J.GRISWOLD,M.ERMAN,W.PANGBORNTITL STRUCTURAL BASIS FOR ANDROGEN SPECIFICITY AND OESTROGENTITL 2 SYNTHESIS IN HUMAN AROMATASE.REF NATURE V. 457 219 2009REFN ISSN 0028-0836PMID 19129847DOI 10.1038/NATURE07614 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]
General Structure Information 3bg3 PC crystal structure of human pyruvate carboxylase (missing the biotin carboxylase domain at the n-terminus) 2.8Å AUTH S.XIANG,L.TONGTITL CRYSTAL STRUCTURES OF HUMAN AND STAPHYLOCOCCUSTITL 2 AUREUS PYRUVATE CARBOXYLASE AND MOLECULAR INSIGHTSTITL 3 INTO THE CARBOXYLTRANSFER REACTION.REF NAT.STRUCT.MOL.BIOL. V. 15 295 2008REFN ISSN 1545-9993PMID 18297087DOI 10.1038/NSMB.1393 Variant Set Distributions Ripley’s K Analysis […]
General Structure Information 3lbx SPTB crystal structure of the erythrocyte spectrin tetramerization domain complex 2.8Å AUTH J.J.IPSARO,S.L.HARPER,T.E.MESSICK,R.MARMORSTEIN,A.MONDRAGON,AUTH 2 D.W.SPEICHERTITL CRYSTAL STRUCTURE AND FUNCTIONAL INTERPRETATION OF THETITL 2 ERYTHROCYTE SPECTRIN TETRAMERIZATION DOMAIN COMPLEX.REF BLOOD V. 115 4843 2010REFN ISSN 0006-4971PMID 20197550DOI 10.1182/BLOOD-2010-01-261396 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2ozl PDHA1 human pyruvate dehydrogenase s264e variant 1.9Å AUTH F.SEIFERT,E.M.CISZAK,L.G.KOROTCHKINA,R.GOLBIK,AUTH 2 M.SPINKA,P.M.DOMINIAK,S.SIDHU,J.BRAUER,M.S.PATEL,AUTH 3 K.TITTMANNTITL PHOSPHORYLATION OF SERINE 264 IMPEDES ACTIVE SITETITL 2 ACCESSIBILITY IN THE E1 COMPONENT OF THE HUMANTITL 3 PYRUVATE DEHYDROGENASE MULTIENZYME COMPLEXREF BIOCHEMISTRY V. 46 6277 2007REFN ISSN 0006-2960PMID 17474719DOI 10.1021/BI700083Z Variant Set Distributions Ripley’s K Analysis Plots Variant […]
General Structure Information 1gxd MMP2 prommp-2/timp-2 complex 3.1Å AUTH E.MORGUNOVA,A.TUUTTILA,U.BERGMANN,K.TRYGGVASONTITL STRUCTURAL INSIGHT INTO THE COMPLEX FORMATION OF LATENTTITL 2 MATRIX METALLOPROTEINASE 2 WITH TISSUE INHIBITOR OFTITL 3 METALLOPROTEINASE 2REF PROC.NATL.ACAD.SCI.USA V. 99 7414 2002REFN ISSN 0027-8424PMID 12032297DOI 10.1073/PNAS.102185399 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3eq1 HMBS the crystal structure of human porphobilinogen deaminase at 2.8a resolution 2.8Å AUTH R.GILL,S.E.KOLSTOE,F.MOHAMMED,A.AL D-BASS,AUTH 2 J.E.MOSELY,M.SARWAR,J.B.COOPER,S.P.WOOD,AUTH 3 P.M.SHOOLINGIN-JORDANTITL STRUCTURE OF HUMAN PORPHOBILINOGEN DEAMINASE AT 2.8TITL 2 A: THE MOLECULAR BASIS OF ACUTE INTERMITTENTTITL 3 PORPHYRIAREF BIOCHEM.J. V. 420 17 2009REFN ISSN 0264-6021PMID 19207107DOI 10.1042/BJ20082077 Variant Set Distributions Ripley’s K Analysis […]
General Structure Information 2gjx HEXB crystallographic structure of human beta-hexosaminidase a 2.8Å AUTH M.J.LEMIEUX,B.L.MARK,M.M.CHERNEY,S.G.WITHERS,D.J.MAHURAN,AUTH 2 M.N.G.JAMESTITL CRYSTALLOGRAPHIC STRUCTURE OF HUMAN BETA-HEXOSAMINIDASE A:TITL 2 INTERPRETATION OF TAY-SACHS MUTATIONS AND LOSS OF GM2TITL 3 GANGLIOSIDE HYDROLYSISREF J.MOL.BIOL. V. 359 913 2006REFN ISSN 0022-2836PMID 16698036DOI 10.1016/J.JMB.2006.04.004 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]
General Structure Information 2gk1 HEXA x-ray crystal structure of ngt-bound hexa 3.25Å AUTH M.J.LEMIEUX,B.L.MARK,M.M.CHERNEY,S.G.WITHERS,D.J.MAHURAN,AUTH 2 M.N.JAMESTITL CRYSTALLOGRAPHIC STRUCTURE OF HUMAN BETA-HEXOSAMINIDASE A:TITL 2 INTERPRETATION OF TAY-SACHS MUTATIONS AND LOSS OF G(M2)TITL 3 GANGLIOSIDE HYDROLYSIS.REF J.MOL.BIOL. V. 359 913 2006REFN ISSN 0022-2836PMID 16698036DOI 10.1016/J.JMB.2006.04.004 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]