2R2P.A | EPHA5

General Structure Information 2r2p EPHA5 kinase domain of human ephrin type-a receptor 5 (epha5) 2.4Å AUTH J.R.WALKER,D.CUERRIER,C.BUTLER-COLE,J.WEIGELT,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,A.BOCHKAREV,AUTH 3 S.DHE-PAGANONTITL KINASE DOMAIN OF HUMAN EPHRIN TYPE-A RECEPTOR 5TITL 2 (EPHA5).REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2F5Y.A | RGS3

General Structure Information 2f5y RGS3 crystal structure of the pdz domain from human rgs-3 2.39Å AUTH E.UGOCHUKWU,G.BERRIDGE,C.JOHANSSON,C.SMEE,P.SAVITSKY,AUTH 2 N.BURGESS,S.COLEBROOK,X.YANG,J.ELKINS,D.DOYLE,A.TURNBULL,AUTH 3 E.PAPAGRIGORIOU,J.DEBRECZENI,G.BUNKOCZI,F.GORREC,AUTH 4 F.VON DELFT,C.ARROWSMITH,M.SUNDSTROM,J.WEIGELT,A.EDWARDSTITL CRYSTAL STRUCTURE OF THE PDZ DOMAIN FROM HUMAN RGS-3REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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3NR9.B | CLK2

General Structure Information 3nr9 CLK2 structure of human cdc2-like kinase 2 (clk2) 2.89Å AUTH A.CHAIKUAD,P.SAVITSKY,T.KROJER,J.R.C.MUNIZ,AUTH 2 P.FILIPPAKOPOULOS,P.RELLOS,T.KEATES,O.FEDOROV,A.C.W.PIKE,AUTH 3 J.ESWARAN,G.BERRIDGE,C.PHILLIPS,Y.ZHANG,F.VON DELFT,AUTH 4 J.WEIGELT,C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,S.KNAPP,AUTH 5 STRUCTURAL GENOMICS CONSORTIUM (SGC)TITL STRUCTURE OF HUMAN CDC2-LIKE KINASE 2 (CLK2)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2GS3.A | GPX4

General Structure Information 2gs3 GPX4 crystal structure of the selenocysteine to glycine mutant of human glutathione peroxidase 4(gpx4) 1.9Å AUTH C.JOHANSSON,K.L.KAVANAGH,A.ROJKOVA,O.GILEADI,F.VON DELFT,AUTH 2 C.ARROWSMITH,J.WEIGELT,M.SUNDSTROM,A.EDWARDS,U.OPPERMANN,AUTH 3 STRUCTURAL GENOMICS CONSORTIUM (SGC)TITL CRYSTAL STRUCTURE OF THE SELENOCYSTEINE TO GLYCINE MUTANT OFTITL 2 HUMAN GLUTATHIONE PEROXIDASE 4(GPX4)REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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2A9U.A | USP8

General Structure Information 2a9u USP8 structure of the n-terminal domain of human ubiquitin carboxyl-terminal hydrolase 8 (usp8) 2.1Å AUTH G.V.AVVAKUMOV,J.R.WALKER,S.XUE,P.J.FINERTY JR.,AUTH 2 F.MACKENZIE,E.M.NEWMAN,S.DHE-PAGANONTITL AMINO-TERMINAL DIMERIZATION, NRDP1-RHODANESETITL 2 INTERACTION, AND INHIBITED CATALYTIC DOMAINTITL 3 CONFORMATION OF THE UBIQUITIN-SPECIFIC PROTEASE 8TITL 4 (USP8).REF J.BIOL.CHEM. V. 281 38061 2006REFN ISSN 0021-9258PMID 17035239DOI 10.1074/JBC.M606704200 Variant Set Distributions Mapped Variants

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2GF2.B | HIBADH

General Structure Information 2gf2 HIBADH crystal structure of human hydroxyisobutyrate dehydrogenase 2.38Å AUTH E.PAPAGRIGORIOU,E.SALAH,A.P.TURNBULL,C.SMEE,AUTH 2 N.BURGESS,O.GILEADI,F.VON DELFT,F.GORREC,AUTH 3 C.H.ARROWSMITH,J.WEIGELT,M.SUNDSTROM,A.M.EDWARDS,AUTH 4 U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN HYDROXYISOBUTYRATETITL 2 DEHYDROGENASEREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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3N9V.B | INPP5B

General Structure Information 3n9v INPP5B crystal structure of inpp5b 2.65Å AUTH L.TRESAUGUES,C.SILVANDER,S.FLODIN,M.WELIN,T.NYMAN,AUTH 2 S.GRASLUND,M.HAMMARSTROM,H.BERGLUND,P.NORDLUNDTITL STRUCTURAL BASIS FOR PHOSPHOINOSITIDE SUBSTRATE RECOGNITION,TITL 2 CATALYSIS, AND MEMBRANE INTERACTIONS IN HUMAN INOSITOLTITL 3 POLYPHOSPHATE 5-PHOSPHATASESREF STRUCTURE V. 22 744 2014REFN ISSN 0969-2126PMID 24704254DOI 10.1016/J.STR.2014.01.013 Variant Set Distributions Mapped Variants

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3LMK.A | GRM5

General Structure Information 3lmk GRM5 ligand binding domain of metabotropoc glutamate receptor mglur5 complexed with glutamate 2.44Å AUTH E.DOBROVETSKY,G.KHUTORESKAYA,A.SEITOVA,D.COSSAR,A.M.EDWARDS,AUTH 2 C.H.ARROWSMITH,C.BOUNTRA,J.WEIGELT,A.BOCHKAREVTITL METABOTROPIC GLUTAMATE RECEPTOR MGLUR5 COMPLEXED WITHTITL 2 GLUTAMATEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3RBN.B | MLH1

General Structure Information 3rbn MLH1 crystal structure of mutl protein homolog 1 isoform 1 [homo sapiens] 2.16Å AUTH L.DOMBROVSKY,A.DONG,A.WERNIMONT,P.LOPPNAU,C.BOUNTRA,AUTH 2 J.WEIGELT,C.H.ARROWSMITH,A.M.EDWARDS,J.MIN,H.WUTITL CRYSTAL STRUCTURE OF MUTL PROTEIN HOMOLOG 1 ISOFORM 1 [HOMOTITL 2 SAPIENS]REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3ISQ.A | HPD

General Structure Information 3isq HPD crystal structure of human 4-hydroxyphenylpyruvate dioxygenase 1.75Å AUTH E.S.PILKA,N.SHAFQAT,R.COCKING,J.E.BRAY,T.KROJER,A.C.W.PIKE,AUTH 2 F.VON DELFT,W.W.YUE,C.H.ARROWSMITH,J.WEIGELT,A.EDWARDS,AUTH 3 C.BOUNTRA,U.OPPERMANN,K.L.KAVANAGHTITL CRYSTAL STRUCTURE OF HUMAN 4-HYDROXYPHENYLPYRUVATETITL 2 DIOXYGENASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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