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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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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1IKT.A | HSD17B4

General Structure Information 1ikt HSD17B4 liganded sterol carrier protein type 2 (scp-2) like domain of human multifunctional enzyme type 2 (mfe-2) 1.75Å AUTH A.M.HAAPALAINEN,D.M.VAN AALTEN,G.MERILAINEN,AUTH 2 J.E.JALONEN,P.PIRILA,R.K.WIERENGA,J.K.HILTUNEN,AUTH 3 T.GLUMOFFTITL CRYSTAL STRUCTURE OF THE LIGANDED SCP-2-LIKETITL 2 DOMAIN OF HUMAN PEROXISOMAL MULTIFUNCTIONAL ENZYMETITL 3 TYPE 2 AT 1.75 A RESOLUTION.REF J.MOL.BIOL. V. 313 1127 2001REFN ISSN […]

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2QNK.A | HAAO

General Structure Information 2qnk HAAO crystal structure of human 3-hydroxyanthranilate 3,4-dioxygenase 1.6Å AUTH E.BITTO,C.A.BINGMAN,G.E.WESENBERG,G.N.PHILLIPS JR.TITL CRYSTAL STRUCTURE OF HUMAN 3-HYDROXYANTHRANILATETITL 2 3,4-DIOXYGENASE.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3CAQ.B | AKR1D1

General Structure Information 3caq AKR1D1 crystal structure of 5beta-reductase (akr1d1) in complex with nadph 2.2Å AUTH F.FAUCHER,L.CANTIN,V.LUU-THE,F.LABRIE,R.BRETONTITL CRYSTAL STRUCTURES OF HUMAN DELTA4-3-KETOSTEROIDTITL 2 5BETA-REDUCTASE (AKR1D1) REVEAL THE PRESENCE OF ANTITL 3 ALTERNATIVE BINDING SITE RESPONSIBLE FOR SUBSTRATETITL 4 INHIBITION (DAGGER) (,) (DOUBLE DAGGER).REF BIOCHEMISTRY V. 47 13537 2008REFN ISSN 0006-2960PMID 19075558DOI 10.1021/BI801276H Variant Set Distributions […]

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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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2CKJ.A | XDH

General Structure Information 2ckj XDH human milk xanthine oxidoreductase 3.59Å AUTH A.R.PEARSON,B.L.J.GODBER,R.EISENTHAL,G.L.TAYLOR,AUTH 2 R.HARRISONTITL HUMAN MILK XANTHINE DEHYDROGENASE IS INCOMPLETELYTITL 2 CONVERTED TO THE OXIDASE FORM IN THE ABSENCE OFTITL 3 PROTEOLYSIS. A STRUCTURAL EXPLANATION.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1IHI.B | AKR1C2

General Structure Information 1ihi AKR1C2 crystal structure of human type iii 3-alpha-hydroxysteroid dehydrogenase/bile acid binding protein (akr1c2) complexed with nadp+ and ursodeoxycholate 3.0Å AUTH Y.JIN,S.E.STAYROOK,R.H.ALBERT,N.T.PALACKAL,AUTH 2 T.M.PENNING,M.LEWISTITL CRYSTAL STRUCTURE OF HUMAN TYPE IIITITL 2 3ALPHA-HYDROXYSTEROID DEHYDROGENASE/BILE ACIDTITL 3 BINDING PROTEIN COMPLEXED WITH NADP(+) ANDTITL 4 URSODEOXYCHOLATE.REF BIOCHEMISTRY V. 40 10161 2001REFN ISSN 0006-2960PMID 11513593DOI 10.1021/BI010919A […]

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1ZBQ.C | HSD17B4

General Structure Information 1zbq HSD17B4 crystal structure of human 17-beta-hydroxysteroid dehydrogenase type 4 in complex with nad 2.71Å AUTH P.LUKACIK,N.SHAFQAT,K.KAVANAGH,J.BRAY,F.VON DELFT,A.EDWARDS,AUTH 2 C.ARROWSMITH,M.SUNDSTROM,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN 17-BETA-HYDROXYSTEROIDTITL 2 DEHYDROGENASE TYPE 4 IN COMPLEX WITH NADREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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