3E7C.A | NR3C1

General Structure Information 3e7c NR3C1 glucocorticoid receptor lbd bound to gsk866 2.15Å AUTH K.P.MADAUSS,R.K.BLEDSOE,I.MCLAY,E.L.STEWART,I.J.UINGS,AUTH 2 G.WEINGARTEN,S.P.WILLIAMSTITL THE FIRST X-RAY CRYSTAL STRUCTURE OF THE GLUCOCORTICOIDTITL 2 RECEPTOR BOUND TO A NON-STEROIDAL AGONIST.REF BIOORG.MED.CHEM.LETT. V. 18 6097 2008REFN ISSN 0960-894XPMID 18952422DOI 10.1016/J.BMCL.2008.10.021 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2LP1.A | APP

General Structure Information 2lp1 APP the solution nmr structure of the transmembrane c-terminal domain of the amyloid precursor protein (c99) -1.0Å AUTH P.J.BARRETT,Y.SONG,W.D.VAN HORN,E.J.HUSTEDT,J.M.SCHAFER,AUTH 2 A.HADZISELIMOVIC,A.J.BEEL,C.R.SANDERSTITL THE AMYLOID PRECURSOR PROTEIN HAS A FLEXIBLE TRANSMEMBRANETITL 2 DOMAIN AND BINDS CHOLESTEROL.REF SCIENCE V. 336 1168 2012REFN ISSN 0036-8075PMID 22654059DOI 10.1126/SCIENCE.1219988 Variant Set Distributions Mapped Variants

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1HYN.S | SLC4A1

General Structure Information 1hyn SLC4A1 crystal structure of the cytoplasmic domain of human erythrocyte band-3 protein 2.6Å AUTH D.ZHANG,A.KIYATKIN,J.T.BOLIN,P.S.LOWTITL CRYSTALLOGRAPHIC STRUCTURE AND FUNCTIONALTITL 2 INTERPRETATION OF THE CYTOPLASMIC DOMAIN OFTITL 3 ERYTHROCYTE MEMBRANE BAND 3.REF BLOOD V. 96 2925 2000REFN ISSN 0006-4971PMID 11049968 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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1AOS.A | ASL

General Structure Information 1aos ASL human argininosuccinate lyase 4.2Å AUTH M.A.TURNER,A.SIMPSON,R.R.MCINNES,P.L.HOWELLTITL HUMAN ARGININOSUCCINATE LYASE: A STRUCTURAL BASIS FORTITL 2 INTRAGENIC COMPLEMENTATION.REF PROC.NATL.ACAD.SCI.USA V. 94 9063 1997REFN ISSN 0027-8424PMID 9256435DOI 10.1073/PNAS.94.17.9063 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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3CON.A | NRAS

General Structure Information 3con NRAS crystal structure of the human nras gtpase bound with gdp 1.65Å AUTH L.NEDYALKOVA,Y.TONG,W.TEMPEL,L.SHEN,P.LOPPNAU,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,J.WEIGELT,AUTH 3 A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF THE HUMAN NRAS GTPASE BOUNDTITL 2 WITH GDP.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2A01.A | APOA1

General Structure Information 2a01 APOA1 crystal structure of lipid-free human apolipoprotein a-i 2.4Å AUTH A.A.AJEES,G.M.ANANTHARAMAIAH,V.K.MISHRA,AUTH 2 M.M.HUSSAIN,K.H.M.MURTHYTITL CRYSTAL STRUCTURE OF HUMAN APOLIPOPROTEIN A-I:TITL 2 INSIGHTS INTO ITS PROTECTIVE EFFECT AGAINSTTITL 3 CARDIOVASCULAR DISEASES.REF PROC.NATL.ACAD.SCI.USA V. 103 2126 2006REFN ISSN 0027-8424PMID 16452169DOI 10.1073/PNAS.0506877103 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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1OWA.A | SPTA1

General Structure Information 1owa SPTA1 solution structural studies on human erythrocyte alpha spectrin n terminal tetramerization domain -1.0Å AUTH S.PARK,M.S.CAFFREY,M.E.JOHNSON,L.W.FUNGTITL SOLUTION STRUCTURAL STUDIES ON HUMAN ERYTHROCYTETITL 2 ALPHA-SPECTRIN TETRAMERIZATION SITE.REF J.BIOL.CHEM. V. 278 21837 2003REFN ISSN 0021-9258PMID 12672815DOI 10.1074/JBC.M300617200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1SHR.B | HBD

General Structure Information 1shr HBD crystal structure of ferrocyanide bound human hemoglobin a2 at 1.88a resolution 1.88Å AUTH U.SEN,J.DASGUPTA,D.CHOUDHURY,P.DATTA,A.CHAKRABARTI,AUTH 2 S.B.CHAKRABARTY,A.CHAKRABARTY,J.K.DATTAGUPTATITL CRYSTAL STRUCTURES OF HBA2 AND HBE AND MODELING OFTITL 2 HEMOGLOBIN DELTA4: INTERPRETATION OF THE THERMALTITL 3 STABILITY AND THE ANTISICKLING EFFECT OF HBA2 ANDTITL 4 IDENTIFICATION OF THE FERROCYANIDE BINDING SITE INTITL 5 […]

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2LEJ.A | PRNP

General Structure Information 2lej PRNP human prion protein mutant huprp(90-231, m129, v210i) -1.0Å AUTH I.BILJAN,G.ILC,G.GIACHIN,A.RASPADORI,I.ZHUKOV,J.PLAVEC,AUTH 2 G.LEGNAMETITL TOWARD THE MOLECULAR BASIS OF INHERITED PRION DISEASES: NMRTITL 2 STRUCTURE OF THE HUMAN PRION PROTEIN WITH V210I MUTATION.REF J.MOL.BIOL. V. 412 660 2011REFN ISSN 0022-2836PMID 21839748DOI 10.1016/J.JMB.2011.07.067 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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4IJQ.C | HPRT1

General Structure Information 4ijq HPRT1 human hypoxanthine-guanine phosphoribosyltransferase in complex with [(2-((guanine-9h-yl)methyl)propane-1,3-diyl)bis(oxy)]bis(methylene)) diphosphonic acid 2.0Å AUTH D.T.KEOUGH,P.SPACEK,D.HOCKOVA,T.TICHY,S.VRBKOVA,AUTH 2 L.SLAVETINSKA,Z.JANEBA,L.NAESENS,M.D.EDSTEIN,M.CHAVCHICH,AUTH 3 T.H.WANG,J.JERSEY,L.W.GUDDATTITL ACYCLIC NUCLEOSIDE PHOSPHONATES CONTAINING A SECONDTITL 2 PHOSPHONATE GROUP ARE POTENT INHIBITORS OF 6-OXOPURINETITL 3 PHOSPHORIBOSYLTRANSFERASES AND HAVE ANTIMALARIAL ACTIVITYREF J.MED.CHEM. V. 56 2513 2013REFN ISSN 0022-2623PMID 23448281DOI 10.1021/JM301893B Variant Set Distributions Pathogenic Proximity […]

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