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 4ivo PPOX structure of human protoporphyrinogen ix oxidase(r59q) 2.6Å AUTH B.WANG,X.WEN,X.QIN,Z.WANG,Y.TAN,Y.SHEN,Z.XITITL QUANTITATIVE STRUCTURAL INSIGHT INTO HUMAN VARIEGATETITL 2 PORPHYRIA DISEASE.REF J.BIOL.CHEM. V. 288 11731 2013REFN ISSN 0021-9258PMID 23467411DOI 10.1074/JBC.M113.459768 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 1mj4 SUOX crystal structure analysis of the cytochrome b5 domain of human sulfite oxidase 1.2Å AUTH M.J.RUDOLPH,J.L.JOHNSON,K.V.RAJAGOPALAN,C.KISKERTITL THE 1.2 A STRUCTURE OF THE HUMAN SULFITE OXIDASE CYTOCHROMETITL 2 B(5) DOMAIN.REF ACTA CRYSTALLOGR.,SECT.D V. 59 1183 2003REFN ISSN 0907-4449PMID 12832761DOI 10.1107/S0907444903009934 Variant Set Distributions Mapped Variants
General Structure Information 2w8r ALDH5A1 the crystal structure of human ssadh in complex with nad+ 2.4Å AUTH Y.-G.KIM,S.LEE,O.-S.KWON,S.-Y.PARK,S.-J.LEE,AUTH 2 B.-J.PARK,K.-J.KIMTITL REDOX-SWITCH MODULATION OF HUMAN SSADH BY DYNAMICTITL 2 CATALYTIC LOOP.REF EMBO J. V. 28 959 2009REFN ISSN 0261-4189PMID 19300440DOI 10.1038/EMBOJ.2009.40 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 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
General Structure Information 2ger PYCR1 crystal structure and oxidative mechanism of human pyrroline-5- carboxylate reductase 3.1Å AUTH Z.MENG,Z.LOU,Z.LIU,M.LI,X.ZHAO,M.BARTLAM,Z.RAOTITL CRYSTAL STRUCTURE OF HUMAN PYRROLINE-5-CARBOXYLATE REDUCTASEREF J.MOL.BIOL. V. 359 1364 2006REFN ISSN 0022-2836PMID 16730026DOI 10.1016/J.JMB.2006.04.053 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3wef FDFT1 crystal structure of the human squalene synthase in complex with farnesyl thiopyrophosphate 2.35Å AUTH C.I.LIU,W.Y.JENG,W.J.CHANG,M.F.SHIH,T.P.KO,A.H.J.WANGTITL STRUCTURAL INSIGHTS INTO THE CATALYTIC MECHANISM OF HUMANTITL 2 SQUALENE SYNTHASEREF ACTA CRYSTALLOGR.,SECT.D V. 70 231 2014REFN ISSN 0907-4449DOI 10.1107/S1399004713026230 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis 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 2bwg GMPR structure of human guanosine monophosphate reductase gmpr1 in complex with gmp 2.4Å AUTH G.BUNKOCZI,A.HARONITI,S.NG,F.VON DELFT,O.GILEADI,AUTH 2 U.OPPERMANN,C.ARROWSMITH,A.EDWARDS,M.SUNDSTROMTITL STRUCTURE OF HUMAN GUANOSINE MONOPHOSPHATE REDUCTASE GMPR1TITL 2 IN COMPLEX WITH GMPREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants