2COJ.B | BCAT1

General Structure Information 2coj BCAT1 crystal structure of reduced human cytosolic branched-chain aminotransferase complexed with gabapentin 2.4Å AUTH M.GOTO,I.MIYAHARA,K.HIROTSU,M.CONWAY,N.YENNAWAR,M.M.ISLAM,AUTH 2 S.M.HUTSONTITL STRUCTURAL DETERMINANTS FOR BRANCHED-CHAIN AMINOTRANSFERASETITL 2 ISOZYME-SPECIFIC INHIBITION BY THE ANTICONVULSANT DRUGTITL 3 GABAPENTINREF J.BIOL.CHEM. V. 280 37246 2005REFN ISSN 0021-9258PMID 16141215DOI 10.1074/JBC.M506486200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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1NE7.D | GNPDA1

General Structure Information 1ne7 GNPDA1 human glucosamine-6-phosphate deaminase isomerase at 1.75 a resolution complexed with n-acetyl-glucosamine-6-phosphate and 2-deoxy-2-amino-glucitol-6-phosphate 1.75Å AUTH R.ARREOLA,B.VALDERRAMA,M.L.MORANTE,E.HORJALESTITL TWO MAMMALIAN GLUCOSAMINE-6-PHOSPHATE DEAMINASES:TITL 2 A STRUCTURAL AND GENETIC STUDY.REF FEBS LETT. V. 551 63 2003REFN ISSN 0014-5793PMID 12965206DOI 10.1016/S0014-5793(03)00896-2 Variant Set Distributions Mapped Variants

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4JA8.B | IDH2

General Structure Information 4ja8 IDH2 complex of mitochondrial isocitrate dehydrogenase r140q mutant with agi-6780 inhibitor 1.55Å AUTH F.WANG,J.TRAVINS,B.DELABARRE,V.PENARD-LACRONIQUE,S.SCHALM,AUTH 2 E.HANSEN,K.STRALEY,A.KERNYTSKY,W.LIU,C.GLISER,H.YANG,AUTH 3 S.GROSS,E.ARTIN,V.SAADA,E.MYLONAS,C.QUIVORON,AUTH 4 J.POPOVICI-MULLER,J.O.SAUNDERS,F.G.SALITURO,S.YAN,S.MURRAY,AUTH 5 W.WEI,Y.GAO,L.DANG,M.DORSCH,S.AGRESTA,D.P.SCHENKEIN,AUTH 6 S.A.BILLER,S.M.SU,S.DE BOTTON,K.E.YENTITL TARGETED INHIBITION OF MUTANT IDH2 IN LEUKEMIA CELLS INDUCESTITL 2 CELLULAR DIFFERENTIATION.REF SCIENCE V. 340 622 2013REFN ISSN 0036-8075PMID 23558173DOI 10.1126/SCIENCE.1234769 Variant Set Distributions Ripley’s K […]

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3JWQ.C | PDE6C

General Structure Information 3jwq PDE6C crystal structure of chimeric pde5/pde6 catalytic domain complexed with sildenafil 2.87Å AUTH B.BARREN,L.GAKHAR,H.MURADOV,K.K.BOYD,S.RAMASWAMY,AUTH 2 N.O.ARTEMYEVTITL STRUCTURAL BASIS OF PHOSPHODIESTERASE 6 INHIBITION BY THETITL 2 C-TERMINAL REGION OF THE GAMMA-SUBUNITREF EMBO J. V. 28 3613 2009REFN ISSN 0261-4189PMID 19798052DOI 10.1038/EMBOJ.2009.284 Variant Set Distributions Mapped Variants

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4FDJ.A | GALNS

General Structure Information 4fdj GALNS the molecular basis of mucopolysaccharidosis iv a, complex with galnac 2.81Å AUTH Y.RIVERA-COLON,E.K.SCHUTSKY,A.Z.KITA,S.C.GARMANTITL THE STRUCTURE OF HUMAN GALNS REVEALS THE MOLECULAR BASIS FORTITL 2 MUCOPOLYSACCHARIDOSIS IV A.REF J.MOL.BIOL. V. 423 736 2012REFN ISSN 0022-2836PMID 22940367DOI 10.1016/J.JMB.2012.08.020 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2W4L.B | DCTD

General Structure Information 2w4l DCTD human dcmp deaminase 2.1Å AUTH M.I.SIPONEN,M.MOCHE,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 C.BOUNTRA,R.COLLINS,L.G.DAHLGREN,A.M.EDWARDS,AUTH 3 S.FLODIN,A.FLORES,S.GRASLUND,M.HAMMARSTROM,AUTH 4 A.JOHANSSON,I.JOHANSSON,T.KARLBERG,T.KOTENYOVA,AUTH 5 L.LEHTIO,M.E.NILSSON,T.NYMAN,C.PERSSON,J.SAGEMARK,AUTH 6 H.SCHULER,A.G.THORSELL,L.TRESAUGUES,S.VAN DEN BERG,AUTH 7 J.WEIGELT,M.WELIN,M.WIKSTROM,M.WISNIEWSKA,AUTH 8 P.NORDLUNDTITL THE CRYSTAL STRUCTURE OF HUMAN DCMP DEAMINASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2CW6.B | HMGCL

General Structure Information 2cw6 HMGCL crystal structure of human hmg-coa lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria 2.1Å AUTH Z.FU,J.A.RUNQUIST,F.FOROUHAR,M.HUSSAIN,J.F.HUNT,AUTH 2 H.M.MIZIORKO,J.-J.P.KIMTITL CRYSTAL STRUCTURE OF HUMANTITL 2 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE: INSIGHTSTITL 3 INTO CATALYSIS AND THE MOLECULAR BASIS FORTITL 4 HYDROXYMETHYLGLUTARIC ACIDURIAREF J.BIOL.CHEM. V. 281 7526 2006REFN ISSN 0021-9258PMID 16330550DOI 10.1074/JBC.M506880200 Variant […]

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1CP3.B | CASP3

General Structure Information 1cp3 CASP3 crystal structure of the complex of apopain with the tetrapeptide inhibitor ace-dvad-fmc 2.3Å AUTH P.R.MITTL,S.DI MARCO,J.F.KREBS,X.BAI,D.S.KARANEWSKY,AUTH 2 J.P.PRIESTLE,K.J.TOMASELLI,M.G.GRUTTERTITL STRUCTURE OF RECOMBINANT HUMAN CPP32 IN COMPLEX WITH THETITL 2 TETRAPEPTIDE ACETYL-ASP-VAL-ALA-ASP FLUOROMETHYL KETONE.REF J.BIOL.CHEM. V. 272 6539 1997REFN ISSN 0021-9258PMID 9045680DOI 10.1074/JBC.272.10.6539 Variant Set Distributions Mapped Variants

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1MQ0.B | CDA

General Structure Information 1mq0 CDA crystal structure of human cytidine deaminase 2.4Å AUTH S.J.CHUNG,J.C.FROMME,G.L.VERDINETITL STRUCTURE OF HUMAN CYTIDINE DEAMINASE BOUND TO A POTENTTITL 2 INHIBITORREF J.MED.CHEM. V. 48 658 2005REFN ISSN 0022-2623PMID 15689149DOI 10.1021/JM0496279 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1S5O.A | CRAT

General Structure Information 1s5o CRAT structural and mutational characterization of l-carnitine binding to human carnitine acetyltransferase 1.8Å AUTH L.GOVINDASAMY,T.KUKAR,W.LIAN,B.PEDERSEN,Y.GU,AUTH 2 M.AGBANDJE-MCKENNA,S.JIN,R.MCKENNA,D.WUTITL STRUCTURAL AND MUTATIONAL CHARACTERIZATION OFTITL 2 L-CARNITINE BINDING TO HUMAN CARNITINETITL 3 ACETYLTRANSFERASE.REF J.STRUCT.BIOL. V. 146 416 2004REFN ISSN 1047-8477PMID 15099582DOI 10.1016/J.JSB.2004.01.011 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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