3LD6.A | CYP51A1

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

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3B6Y.B | IFI16

General Structure Information 3b6y IFI16 crystal structure of the second hin-200 domain of interferon-inducible protein 16 2.35Å AUTH J.C.C.LIAO,R.LAM,M.RAVICHANDRAN,S.DUAN,W.TEMPEL,AUTH 2 N.Y.CHIRGADZE,C.H.ARROWSMITHTITL CRYSTAL STRUCTURE ANALYSIS OF THE SECOND HIN DOMAIN OFTITL 2 IFI16.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2UYY.B | GLYR1

General Structure Information 2uyy GLYR1 structure of the cytokine-like nuclear factor n-pac 2.5Å AUTH J.TICKLE,E.S.PILKA,G.BUNKOCZI,G.BERRIDGE,C.SMEE,AUTH 2 K.L.KAVANAGH,V.HOZJAN,F.H.NIESEN,E.PAPAGRIGORIOU,A.C.W.PIKE,AUTH 3 A.TURNBULL,C.H.ARROWSMITH,A.EDWARDS,M.SUNDSTROM,J.WEIGELT,AUTH 4 F.VON DELFT,U.OPPERMANNTITL THE STRUCTURE OF THE CYTOKINE-LIKE NUCLEAR FACTOR N-PACREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4BOQ.A | YOD1

General Structure Information 4boq YOD1 structure of otud2 otu domain 1.47Å AUTH T.E.T.MEVISSEN,M.K.HOSPENTHAL,P.P.GEURINK,P.R.ELLIOTT,AUTH 2 M.AKUTSU,N.ARNAUDO,R.EKKEBUS,Y.KULATHU,T.WAUER,F.EL OUALID,AUTH 3 S.M.V.FREUND,H.OVAA,D.KOMANDERTITL OTU DEUBIQUITINASES REVEAL MECHANISMS OF LINKAGETITL 2 SPECIFICITY AND ENABLE UBIQUITIN CHAIN RESTRICTIONTITL 3 ANALYSIS.REF CELL(CAMBRIDGE,MASS.) V. 154 169 2013REFN ISSN 0092-8674PMID 23827681DOI 10.1016/J.CELL.2013.05.046 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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3VN4.A | ADAMTS13

General Structure Information 3vn4 ADAMTS13 crystal structure of the exosite-containing fragment of human adamts13 (p475s mutant) 2.8Å AUTH D.NAKAYAMA,M.AKIYAMA,S.TAKEDA,K.KOKAME,J.TAKAGI,T.MIYATATITL STRUCTURAL ANALYSIS AND BIOCHEMICAL STUDIES OF ADAMTS13TITL 2 P475S MUTANTREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4CCA.A | STXBP2

General Structure Information 4cca STXBP2 structure of human munc18-2 2.6Å AUTH Y.HACKMANN,S.C.GRAHAM,S.EHL,S.HOENING,K.LEHMBERG,M.ARICO,AUTH 2 D.J.OWEN,G.G.GRIFFITHSTITL SYNTAXIN BINDING MECHANISM AND DISEASE-CAUSING MUTATIONS INTITL 2 MUNC18-2REF PROC.NATL.ACAD.SCI.USA V. 110 E4482 2013REFN ISSN 0027-8424PMID 24194549DOI 10.1073/PNAS.1313474110 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2WTK.C | STK11

General Structure Information 2wtk STK11 structure of the heterotrimeric lkb1-stradalpha-mo25alpha complex 2.65Å AUTH E.ZEQIRAJ,B.M.FILIPPI,M.DEAK,D.R.ALESSI,D.M.F.VAN AALTENTITL STRUCTURE OF THE LKB1-STRAD-MO25 COMPLEX REVEALS ANTITL 2 ALLOSTERIC MECHANISM OF KINASE ACTIVATION.REF SCIENCE V. 326 1707 2009REFN ISSN 0036-8075PMID 19892943DOI 10.1126/SCIENCE.1178377 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2I6L.B | MAPK6

General Structure Information 2i6l MAPK6 crystal structure of human mitogen activated protein kinase 6 (mapk6) 2.25Å AUTH P.FILIPPAKOPOULOS,A.P.TURNBULL,P.SAVITSKY,AUTH 2 O.FEDOROV,G.BERRIDGE,S.DAS,J.ELKINS,AUTH 3 M.SOUNDARARAJAN,X.W.YANG,D.DOYLE,E.PAPAGRIGORIOU,AUTH 4 A.C.W.PIKE,G.BUNKONCZI,E.UGOCHUKWU,J.DEBRECZENI,AUTH 5 F.VON DELFT,A.EDWARDS,C.ARROWSMITH,M.SUNDSTROM,AUTH 6 S.KNAPPTITL CRYSTAL STRUCTURE OF THE HUMAN MITOGEN ACTIVATEDTITL 2 PROTEIN KINASE 6REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]

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2F9M.A | RAB11B

General Structure Information 2f9m RAB11B 3d structure of active human rab11b gtpase 1.95Å AUTH S.M.SCAPIN,F.R.CARNEIRO,A.C.ALVES,F.J.MEDRANO,AUTH 2 B.G.GUIMARAES,N.I.ZANCHINTITL THE CRYSTAL STRUCTURE OF THE SMALL GTPASE RAB11BTITL 2 REVEALS CRITICAL DIFFERENCES RELATIVE TO THETITL 3 RAB11A ISOFORM.REF J.STRUCT.BIOL. V. 154 260 2006REFN ISSN 1047-8477PMID 16545962DOI 10.1016/J.JSB.2006.01.007 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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2IAG.A | PTGIS

General Structure Information 2iag PTGIS crystal structure of human prostacyclin synthase 2.15Å AUTH C.-W.CHIANG,H.-C.YEH,L.-H.WANG,N.-L.CHANTITL CRYSTAL STRUCTURE OF THE HUMAN PROSTACYCLINTITL 2 SYNTHASEREF J.MOL.BIOL. V. 364 266 2006REFN ISSN 0022-2836PMID 17020766DOI 10.1016/J.JMB.2006.09.039 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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