Assessment of Structural Intolerance and Durability
General Structure Information 2c43 AASDHPPT structure of aminoadipate-semialdehyde dehydrogenase- phosphopantetheinyl transferase in complex with coenzyme a 1.93Å AUTH G.BUNKOCZI,S.PASTA,A.JOSHI,X.WU,K.L.KAVANAGH,S.SMITH,AUTH 2 U.OPPERMANNTITL MECHANISM AND SUBSTRATE RECOGNITION OF HUMAN HOLO ACPTITL 2 SYNTHASE.REF CHEM.BIOL. V. 14 1243 2007REFN ISSN 1074-5521PMID 18022563DOI 10.1016/J.CHEMBIOL.2007.10.013 Variant Set Distributions Mapped Variants
General Structure Information 3hy8 PNPO crystal structure of human pyridoxine 5-phosphate oxidase r229w mutant 2.5Å AUTH F.N.MUSAYEV,M.L.DI SALVO,M.A.SAAVEDRA,R.CONTESTABILE,AUTH 2 M.S.GHATGE,A.HAYNES,V.SCHIRCH,M.K.SAFOTITL MOLECULAR BASIS OF REDUCED PYRIDOXINE 5-PHOSPHATE OXIDASETITL 2 CATALYTIC ACTIVITY IN NEONATAL EPILEPTIC ENCEPHALOPATHYTITL 3 DISORDERREF J.BIOL.CHEM. V. 284 30949 2009REFN ISSN 0021-9258PMID 19759001DOI 10.1074/JBC.M109.038372 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3ihl CTPS2 human ctps2 crystal structure 2.8Å AUTH M.MOCHE,M.I.SIPONEN,C.H.ARROWSMITH,H.BERGLUND,C.BOUNTRA,AUTH 2 R.COLLINS,A.M.EDWARDS,S.FLODIN,A.FLORES,S.GRASLUND,AUTH 3 M.HAMMARSTROM,A.JOHANSSON,I.JOHANSSON,T.KARLBERG,AUTH 4 T.KOTENYOVA,A.KOTZSCH,T.KRAGH NIELSEN,T.NYMAN,C.PERSSON,AUTH 5 A.K.ROOS,J.SAGEMARK,H.SCHUELER,P.SCHUTZ,A.G.THORSELL,AUTH 6 L.TRESAUGUES,S.VAN DEN BERG,J.WEIGELT,M.WELIN,M.WISNIEWSKA,AUTH 7 P.NORDLUNDTITL HUMAN CTPS2 CRYSTAL STRUCTUREREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants
General Structure Information 3elb PCYT2 human ctp: phosphoethanolamine cytidylyltransferase in complex with cmp 2.0Å AUTH T.KARLBERG,M.WELIN,J.ANDERSSON,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 C.BOUNTRA,R.COLLINS,L.G.DAHLGREN,A.M.EDWARDS,S.FLODIN,AUTH 3 A.FLORES,S.GRASLUND,M.HAMMARSTROM,A.JOHANSSON,I.JOHANSSON,AUTH 4 T.KOTENYOVA,L.LEHTIO,M.MOCHE,M.E.NILSSON,P.NORDLUND,T.NYMAN,AUTH 5 C.PERSSON,J.SAGEMARK,A.G.THORSELL,L.TRESAUGUES,AUTH 6 S.VAN DEN BERG,J.WEIGELT,M.WIKSTROM,M.WISNIEWSKA,H.SCHULERTITL HUMAN CTP:PHOSPHOETHANOLAMINE CYTIDYLYLTRANSFERASEREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants
General Structure Information 1nut NMNAT3 crystal structure of human cytosolic nmn/namn adenylyltransferase complexed with atp analog 1.9Å AUTH X.ZHANG,O.V.KURNASOV,S.KARTHIKEYAN,N.V.GRISHIN,A.L.OSTERMAN,AUTH 2 H.ZHANGTITL STRUCTURAL CHARACTERIZATION OF A HUMAN CYTOSOLIC NMN/NAMNTITL 2 ADENYLYLTRANSFERASE AND IMPLICATION IN HUMAN NADTITL 3 BIOSYNTHESISREF J.BIOL.CHEM. V. 278 13503 2003REFN ISSN 0021-9258PMID 12574164DOI 10.1074/JBC.M300073200 Variant Set Distributions Mapped Variants
General Structure Information 2pny IDI2 structure of human isopentenyl-diphosphate delta-isomerase 2 1.81Å AUTH J.R.WALKER,T.DAVIS,C.BUTLER-COLE,J.WEIGELT,M.SUNDSTROM,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,A.BOCHKAREV,S.DHE-PAGANONTITL STRUCTURE OF THE HUMAN ISOPENTENYL-DIPHOSPHATETITL 2 DELTA-ISOMERASE 2.REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants
General Structure Information 2vcy MECR crystal structure of 2-enoyl thioester reductase of human fas ii 2.41Å AUTH Z.J.CHEN,R.PUDAS,S.SHARMA,O.S.SMART,A.H.JUFFER,AUTH 2 J.K.HILTUNEN,R.K.WIERENGA,A.M.HAAPALAINENTITL STRUCTURAL ENZYMOLOGICAL STUDIES OF 2-ENOYLTITL 2 THIOESTER REDUCTASE OF THE HUMAN MITOCHONDRIAL FASTITL 3 II PATHWAY: NEW INSIGHTS INTO ITS SUBSTRATETITL 4 RECOGNITION PROPERTIES.REF J.MOL.BIOL. V. 379 830 2008REFN ISSN 0022-2836PMID 18479707DOI 10.1016/J.JMB.2008.04.041 Variant Set […]
General Structure Information 2wm1 ACMSD the crystal structure of human alpha-amino-beta- carboxymuconate-epsilon-semialdehyde decarboxylase in complex with 1,3- dihydroxyacetonephosphate suggests a regulatory link between nad synthesis and glycolysis 2.01Å AUTH S.GARAVAGLIA,S.PEROZZI,L.GALEAZZI,N.RAFFAELLI,AUTH 2 M.RIZZITITL THE CRYSTAL STRUCTURE OF HUMAN ALPHA-AMINO-BETA-TITL 2 CARBOXYMUCONATE-EPSILON-SEMIALDEHYDE DECARBOXYLASETITL 3 IN COMPLEX WITH 1,3-DIHYDROXYACETONEPHOSPHATETITL 4 SUGGESTS A REGULATORY LINK BETWEEN NAD SYNTHESISTITL 5 […]
General Structure Information 3bd9 HS3ST5 human 3-o-sulfotransferase isoform 5 with bound pap 2.3Å AUTH D.XU,A.F.MOON,D.SONG,L.C.PEDERSEN,J.LIUTITL ENGINEERING SULFOTRANSFERASES TO MODIFY HEPARANTITL 2 SULFATE.REF NAT.CHEM.BIOL. V. 4 200 2008REFN ISSN 1552-4450PMID 18223645DOI 10.1038/NCHEMBIO.66 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3ld6 CYP51A1 crystal structure of human lanosterol 14alpha-demethylase (cyp51) in complex with ketoconazole 2.8Å AUTH N.STRUSHKEVICH,S.A.USANOV,H.W.PARKTITL STRUCTURAL BASIS OF HUMAN CYP51 INHIBITION BY ANTIFUNGALTITL 2 AZOLES.REF J.MOL.BIOL. V. 397 1067 2010REFN ISSN 0022-2836PMID 20149798DOI 10.1016/J.JMB.2010.01.075 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants