2J6L.F | ALDH7A1

General Structure Information 2j6l ALDH7A1 structure of aminoadipate-semialdehyde dehydrogenase 1.3Å AUTH C.BROCKER,N.LASSEN,T.ESTEY,A.PAPPA,M.CANTORE,V.V.ORLOVA,AUTH 2 T.CHAVAKIS,K.L.KAVANAGH,U.OPPERMANN,V.VASILIOUTITL ALDEHYDE DEHYDROGENASE 7A1 (ALDH7A1) IS A NOVEL ENZYMETITL 2 INVOLVED IN CELLULAR DEFENSE AGAINST HYPEROSMOTIC STRESS.REF J.BIOL.CHEM. V. 285 18452 2010REFN ISSN 0021-9258PMID 20207735DOI 10.1074/JBC.M109.077925 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2UXW.A | ACADVL

General Structure Information 2uxw ACADVL crystal structure of human very long chain acyl-coa dehydrogenase (acadvl) 1.45Å AUTH A.C.W.PIKE,V.HOZJAN,C.SMEE,G.BERRIDGE,N.BURGESS,E.SALAH,AUTH 2 G.BUNKOCZI,J.UPPENBERG,E.UGOCHUKWU,F.VON DELFT,AUTH 3 C.H.ARROWSMITH,A.EDWARDS,J.WEIGELT,M.SUNDSTROM,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN VERY LONG CHAIN ACYL- COATITL 2 DEHYDROGENASE (ACADVL)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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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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2AW5.B | ME1

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

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2XBB.B | NEDD4

General Structure Information 2xbb NEDD4 nedd4 hect:ub complex 2.68Å AUTH E.MASPERO,S.MARI,E.VALENTINI,A.MUSACCHIO,A.FISH,AUTH 2 S.PASQUALATO,S.POLOTITL STRUCTURE OF THE HECT:UBIQUITIN COMPLEX AND ITS ROLE INTITL 2 UBIQUITIN CHAIN ELONGATIONREF EMBO REP. V. 12 342 2011REFN ISSN 1469-221XPMID 21399620DOI 10.1038/EMBOR.2011.21 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3PDF.A | CTSC

General Structure Information 3pdf CTSC discovery of novel cyanamide-based inhibitors of cathepsin c 1.85Å AUTH D.LAINE,M.PALOVICH,P.MCCLELAND,E.PETITJEAN,I.DELHOM,H.XIE,AUTH 2 J.DENG,G.LIN,R.DAVIS,A.JOLIT,N.NEVINS,J.VILLA,J.SCHNECKTITL DISCOVERY OF NOVEL CYANAMIDE-BASED INHIBITORS OF CATHEPSIN CREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2HGS.A | GSS

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

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4CDG.B | BLM

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 […]

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3V53.A | RBM25

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

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1TOZ.A | NOTCH1

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

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