2IU1.A | EIF5

General Structure Information 2iu1 EIF5 crystal structure of eif5 c-terminal domain 1.8Å AUTH C.BIENIOSSEK,P.SCHUTZ,M.BUMANN,A.LIMACHER,I.USON,AUTH 2 U.BAUMANNTITL THE CRYSTAL STRUCTURE OF THE CARBOXY-TERMINALTITL 2 DOMAIN OF HUMAN TRANSLATION INITIATION FACTORTITL 3 EIF5.REF J.MOL.BIOL. V. 360 457 2006REFN ISSN 0022-2836PMID 16781736DOI 10.1016/J.JMB.2006.05.021 Variant Set Distributions Mapped Variants

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3E1Y.A | ETF1

General Structure Information 3e1y ETF1 crystal structure of human erf1/erf3 complex 3.8Å AUTH Z.CHENG,K.SAITO,A.V.PISAREV,M.WADA,V.P.PISAREVA,T.V.PESTOVA,AUTH 2 M.GAJDA,A.ROUND,C.KONG,M.LIM,Y.NAKAMURA,D.I.SVERGUN,K.ITO,AUTH 3 H.SONGTITL STRUCTURAL INSIGHTS INTO ERF3 AND STOP CODON RECOGNITION BYTITL 2 ERF1REF GENES DEV. V. 23 1106 2009REFN ISSN 0890-9369PMID 19417105DOI 10.1101/GAD.1770109 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2VOM.B | TPI1

General Structure Information 2vom TPI1 structural basis of human triosephosphate isomerase deficiency. mutation e104d and correlation to solvent perturbation. 1.85Å AUTH C.RODRIGUEZ-ALMAZAN,R.ARREOLA-ALEMON,AUTH 2 D.RODRIGUEZ-LARREA,B.AGUIRRE-LOPEZ,AUTH 3 M.T.DE GOMEZ-PUYOU,R.PEREZ-MONTFORT,M.COSTAS,AUTH 4 A.GOMEZ-PUYOU,A.TORRES-LARIOSTITL STRUCTURAL BASIS OF HUMAN TRIOSEPHOSPHATETITL 2 ISOMERASE DEFICIENCY: MUTATION E104D IS RELATED TOTITL 3 ALTERATIONS OF A CONSERVED WATER NETWORK AT THETITL 4 DIMER INTERFACE.REF J.BIOL.CHEM. […]

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6JDW.A | GATM

General Structure Information 6jdw GATM crystal structure of human l-arginine:glycine amidinotransferase in complex with gamma-amino butyric acid 2.5Å AUTH E.FRITSCHE,A.HUMM,R.HUBERTITL THE LIGAND-INDUCED STRUCTURAL CHANGES OF HUMANTITL 2 L-ARGININE:GLYCINE AMIDINOTRANSFERASE. ATITL 3 MUTATIONAL AND CRYSTALLOGRAPHIC STUDY.REF J.BIOL.CHEM. V. 274 3026 1999REFN ISSN 0021-9258PMID 9915841DOI 10.1074/JBC.274.5.3026 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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3D4J.A | MVD

General Structure Information 3d4j MVD crystal structure of human mevalonate diphosphate decarboxylase 2.4Å AUTH N.E.VOYNOVA,Z.FU,K.P.BATTAILE,T.J.HERDENDORF,AUTH 2 J.J.KIM,H.M.MIZIORKOTITL HUMAN MEVALONATE DIPHOSPHATE DECARBOXYLASE:TITL 2 CHARACTERIZATION, INVESTIGATION OF THE MEVALONATETITL 3 DIPHOSPHATE BINDING SITE, AND CRYSTAL STRUCTURE.REF ARCH.BIOCHEM.BIOPHYS. V. 480 58 2008REFN ISSN 0003-9861PMID 18823933DOI 10.1016/J.ABB.2008.08.024 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3HHD.C | FASN

General Structure Information 3hhd FASN structure of the human fatty acid synthase ks-mat didomain as a framework for inhibitor design. 2.15Å AUTH G.PAPPENBERGER,J.BENZ,B.GSELL,M.HENNIG,A.RUF,AUTH 2 M.STIHLE,R.THOMA,M.G.RUDOLPHTITL STRUCTURE OF THE HUMAN FATTY ACID SYNTHASE KS-MATTITL 2 DIDOMAIN AS A FRAMEWORK FOR INHIBITOR DESIGN.REF J.MOL.BIOL. V. 397 508 2010REFN ISSN 0022-2836PMID 20132826DOI 10.1016/J.JMB.2010.01.066 Variant Set Distributions Ripley’s K […]

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2WYA.C | HMGCS2

General Structure Information 2wya HMGCS2 crystal structure of human mitochondrial 3-hydroxy-3- methylglutaryl-coenzyme a synthase 2 (hmgcs2) 1.7Å AUTH N.SHAFQAT,A.TURNBULL,J.ZSCHOCKE,U.OPPERMANN,AUTH 2 W.W.YUETITL CRYSTAL STRUCTURES OF HUMAN HMG-COA SYNTHASETITL 2 ISOFORMS PROVIDE INSIGHTS INTO INHERITEDTITL 3 KETOGENESIS DISORDERS AND INHIBITOR DESIGN.REF J.MOL.BIOL. V. 398 497 2010REFN ISSN 0022-2836PMID 20346956DOI 10.1016/J.JMB.2010.03.034 Variant Set Distributions Ripley’s K Analysis Plots […]

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1NST.A | NDST1

General Structure Information 1nst NDST1 the sulfotransferase domain of human haparin sulfate n- deacetylase/n-sulfotransferase 2.3Å AUTH Y.KAKUTA,T.SUEYOSHI,M.NEGISHI,L.C.PEDERSENTITL CRYSTAL STRUCTURE OF THE SULFOTRANSFERASE DOMAINTITL 2 OF HUMAN HEPARAN SULFATE N-DEACETYLASE/TITL 3 N-SULFOTRANSFERASE 1.REF J.BIOL.CHEM. V. 274 10673 1999REFN ISSN 0021-9258PMID 10196134DOI 10.1074/JBC.274.16.10673 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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1W6J.A | LSS

General Structure Information 1w6j LSS structure of human osc in complex with ro 48-8071 2.2Å AUTH R.THOMA,T.SCHULZ-GASCH,B.DARCY,J.BENZ,J.AEBI,AUTH 2 H.DEHMLOW,M.HENNIG,M.STIHLE,A.RUFTITL INSIGHT INTO STEROID SCAFFOLD FORMATION FROM THETITL 2 STRUCTURE OF HUMAN OXIDOSQUALENE CYCLASEREF NATURE V. 432 118 2004REFN ISSN 0028-0836PMID 15525992DOI 10.1038/NATURE02993 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3T7O.A | GYG1

General Structure Information 3t7o GYG1 crystal structure of human glycogenin-1 (gyg1) complexed with manganese, udp-glucose and glucose 1.85Å AUTH A.CHAIKUAD,D.S.FROESE,G.BERRIDGE,F.VON DELFT,U.OPPERMANN,AUTH 2 W.W.YUETITL CONFORMATIONAL PLASTICITY OF GLYCOGENIN AND ITSTITL 2 MALTOSACCHARIDE SUBSTRATE DURING GLYCOGEN BIOGENESIS.REF PROC.NATL.ACAD.SCI.USA V. 108 21028 2011REFN ISSN 0027-8424PMID 22160680DOI 10.1073/PNAS.1113921108 Variant Set Distributions Mapped Variants

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