General Structure Information 3dwb ECE1 structure of human ece-1 complexed with phosphoramidon 2.38Å AUTH H.SCHULZ,G.E.DALE,Y.KARIMI-NEJAD,C.OEFNERTITL STRUCTURE OF HUMAN ENDOTHELIN-CONVERTING ENZYME I COMPLEXEDTITL 2 WITH PHOSPHORAMIDONREF J.MOL.BIOL. V. 385 178 2009REFN ISSN 0022-2836PMID 18992253DOI 10.1016/J.JMB.2008.10.052 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2zt7 GARS crystal structure of human glycyl-trna synthetase (glyrs) in complex with glycine and atp 2.7Å AUTH R.T.GUO,Y.E.CHONG,M.GUO,X.L.YANGTITL CRYSTAL STRUCTURES AND BIOCHEMICAL ANALYSES SUGGESTTITL 2 UNIQUE MECHANISM AND ROLE FOR HUMAN GLYRS IN AP4ATITL 3 HOMEOSTASISREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]
General Structure Information 3evs GDF5 crystal structure of the gdf-5:bmp receptor ib complex. 2.1Å AUTH A.KOTZSCH,J.NICKEL,A.SEHER,W.SEBALD,T.D.MULLERTITL CRYSTAL STRUCTURE ANALYSIS REVEALS A SPRING-LOADED LATCH ASTITL 2 MOLECULAR MECHANISM FOR GDF-5-TYPE I RECEPTOR SPECIFICITY.REF EMBO J. V. 28 937 2009REFN ISSN 0261-4189PMID 19229295DOI 10.1038/EMBOJ.2009.37 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2w86 FBN1 crystal structure of fibrillin-1 domains cbegf9hyb2cbegf10, calcium saturated form 1.8Å AUTH S.A.JENSEN,S.IQBAL,E.D.LOWE,C.REDFIELD,P.A.HANDFORDTITL STRUCTURE AND INTERDOMAIN INTERACTIONS OF A HYBRIDTITL 2 DOMAIN: A DISULPHIDE-RICH MODULE OF THETITL 3 FIBRILLIN/LTBP SUPERFAMILY OF MATRIX PROTEINS.REF STRUCTURE V. 17 759 2009REFN ISSN 0969-2126PMID 19446531DOI 10.1016/J.STR.2009.03.014 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2jif ACADSB structure of human short-branched chain acyl-coa dehydrogenase (acadsb) 2.0Å AUTH A.C.W.PIKE,V.HOZJAN,C.SMEE,F.H.NIESEN,K.L.KAVANAGH,C.UMEANO,AUTH 2 A.P.TURNBULL,F.VON DELFT,J.WEIGELT,A.EDWARDS,C.H.ARROWSMITH,AUTH 3 M.SUNDSTROM,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN SHORT-BRANCHED CHAIN ACYL-COATITL 2 DEHYDROGENASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3e0g LIFR structure of the leukemia inhibitory factor receptor (lif-r) domains d1-d5 3.1Å AUTH G.SKINIOTIS,P.J.LUPARDUS,M.MARTICK,T.WALZ,K.C.GARCIATITL STRUCTURAL ORGANIZATION OF A FULL-LENGTH GP130/LIF-RTITL 2 CYTOKINE RECEPTOR TRANSMEMBRANE COMPLEX.REF MOL.CELL V. 31 737 2008REFN ISSN 1097-2765PMID 18775332DOI 10.1016/J.MOLCEL.2008.08.011 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants
General Structure Information 3isq HPD crystal structure of human 4-hydroxyphenylpyruvate dioxygenase 1.75Å AUTH E.S.PILKA,N.SHAFQAT,R.COCKING,J.E.BRAY,T.KROJER,A.C.W.PIKE,AUTH 2 F.VON DELFT,W.W.YUE,C.H.ARROWSMITH,J.WEIGELT,A.EDWARDS,AUTH 3 C.BOUNTRA,U.OPPERMANN,K.L.KAVANAGHTITL CRYSTAL STRUCTURE OF HUMAN 4-HYDROXYPHENYLPYRUVATETITL 2 DIOXYGENASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants
General Structure Information 2rop ATP7B solution structure of domains 3 and 4 of human atp7b -1.0Å AUTH L.BANCI,I.BERTINI,F.CANTINI,A.C.ROSENZWEIG,AUTH 2 L.A.YATSUNYKTITL METAL BINDING DOMAINS 3 AND 4 OF THE WILSONTITL 2 DISEASE PROTEIN: SOLUTION STRUCTURE ANDTITL 3 INTERACTION WITH THE COPPER(I) CHAPERONE HAH1REF BIOCHEMISTRY V. 47 7423 2008REFN ISSN 0006-2960PMID 18558714DOI 10.1021/BI8004736 Variant Set Distributions Mapped […]
General Structure Information 3cog CTH crystal structure of human cystathionase (cystathionine gamma lyase) in complex with dl-propargylglycine 2.0Å AUTH Q.SUN,R.COLLINS,S.HUANG,L.HOLMBERG-SCHIAVONE,G.S.ANAND,AUTH 2 C.H.TAN,S.VAN-DEN-BERG,L.W.DENG,P.K.MOORE,T.KARLBERG,AUTH 3 J.SIVARAMANTITL STRUCTURAL BASIS FOR THE INHIBITION MECHANISM OF HUMANTITL 2 CYSTATHIONINE GAMMA-LYASE, AN ENZYME RESPONSIBLE FOR THETITL 3 PRODUCTION OF H(2)S.REF J.BIOL.CHEM. V. 284 3076 2009REFN ISSN 0021-9258PMID 19019829DOI 10.1074/JBC.M805459200 Variant Set […]
General Structure Information 1emo FBN1 nmr study of a pair of fibrillin ca2+ binding epidermal growth factor-like domains, 22 structures -1.0Å AUTH A.K.DOWNING,V.KNOTT,J.M.WERNER,C.M.CARDY,AUTH 2 I.D.CAMPBELL,P.A.HANDFORDTITL SOLUTION STRUCTURE OF A PAIR OF CALCIUM-BINDINGTITL 2 EPIDERMAL GROWTH FACTOR-LIKE DOMAINS: IMPLICATIONSTITL 3 FOR THE MARFAN SYNDROME AND OTHER GENETICTITL 4 DISORDERS.REF CELL(CAMBRIDGE,MASS.) V. 85 597 1996REFN ISSN 0092-8674PMID […]