General Structure Information 1pl6 SORD human sdh/nadh/inhibitor complex 2.0Å AUTH T.A.PAULY,J.L.EKSTROM,D.A.BEEBE,B.CHRUNYK,D.CUNNINGHAM,AUTH 2 M.GRIFFOR,A.KAMATH,S.E.LEE,R.MADURA,D.MCGUIRE,T.SUBASHI,AUTH 3 D.WASILKO,P.WATTS,B.L.MYLARI,P.J.OATES,P.D.ADAMS,V.L.RATHTITL X-RAY CRYSTALLOGRAPHIC AND KINETIC STUDIES OF HUMAN SORBITOLTITL 2 DEHYDROGENASE.REF STRUCTURE V. 11 1071 2003REFN ISSN 0969-2126PMID 12962626DOI 10.1016/S0969-2126(03)00167-9 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 4lcj CTBP2 ctbp2 in complex with substrate mtob 2.86Å AUTH B.J.HILBERT,S.R.GROSSMANN,C.A.SCHIFFER,W.E.ROYERTITL CRYSTAL STRUCTURES OF HUMAN CTBP IN COMPLEX WITH SUBSTRATETITL 2 MTOB REVEAL ACTIVE SITE FEATURES USEFUL FOR INHIBITORTITL 3 DESIGN.REF FEBS LETT. V. 588 1743 2014REFN ISSN 0014-5793PMID 24657618DOI 10.1016/J.FEBSLET.2014.03.026 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]
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
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
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
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
General Structure Information 2h5g ALDH18A1 crystal structure of human pyrroline-5-carboxylate synthetase 2.25Å AUTH E.PAPAGRIGORIOU,N.SHAFQAT,A.P.TURNBULL,G.BERRIDGE,V.HOZJAN,AUTH 2 K.KAVANAGH,O.GILEADI,C.SMEE,J.BRAY,F.GORREC,M.SUNDSTROM,AUTH 3 C.ARROWSMITH,J.WEIGELT,A.EDWARDS,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN PYRROLINE-5-CARBOXYLATETITL 2 SYNTHETASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2jkv PGD structure of human phosphogluconate dehydrogenase in complex with nadph at 2.53a 2.53Å AUTH S.S.NG,F.VON DELFT,E.S.PILKA,K.L.KAVANAGH,M.A.MCDONOUGH,AUTH 2 P.SAVITSKY,C.H.ARROWSMITH,J.WEIGELT,A.EDWARDS,M.SUNDSTROM,AUTH 3 C.J.SCHOFIELD,U.OPPERMANNTITL STRUCTURE OF HUMAN PHOSPHOGLUCONATE DEHYDROGENASE INTITL 2 COMPLEX WITH NADPH AT 2.53AREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants
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
General Structure Information 4h80 ALDH3A1 crystal structure of human aldh3a1 with its isozyme selective inhibitor – n-[4-(4-methylsulfonyl-2-nitroanilino)phenyl]acetamide 2.5Å AUTH B.PARAJULI,T.GEORGIADIS,M.L.FISHEL,T.D.HURLEYTITL KINETIC AND STRUCTURAL CHARACTERIZATION OF A SELECTIVETITL 2 INHIBITOR FOR HUMAN ALDH3A1REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants