2C0Y.A | CTSS

General Structure Information 2c0y CTSS the crystal structure of a cys25ala mutant of human procathepsin s 2.1Å AUTH G.KAULMANN,G.J.PALM,K.SCHILLING,R.HILGENFELD,AUTH 2 B.WIEDERANDERSTITL THE CRYSTAL STRUCTURE OF A CYS25 -> ALA MUTANT OFTITL 2 HUMAN PROCATHEPSIN S ELUCIDATES ENZYME-PROSEQUENCETITL 3 INTERACTIONS.REF PROTEIN SCI. V. 15 2619 2006REFN ISSN 0961-8368PMID 17075137DOI 10.1110/PS.062401806 Variant Set Distributions Ripley’s K Analysis […]

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3SN5.B | CYP7A1

General Structure Information 3sn5 CYP7A1 crystal structure of human cyp7a1 in complex with cholest-4-en-3-one 2.75Å AUTH N.STRUSHKEVICH,W.TEMPEL,F.MACKENZIE,A.K.WERNIMONT,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,J.WEIGELT,H.PARKTITL CRYSTAL STRUCTURE OF HUMAN CYP7A1 IN COMPLEX WITHTITL 2 CHOLEST-4-EN-3-ONEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2ZW3.B | GJB2

General Structure Information 2zw3 GJB2 structure of the connexin-26 gap junction channel at 3.5 angstrom resolution 3.5Å AUTH S.MAEDA,S.NAKAGAWA,M.SUGA,E.YAMASHITA,A.OSHIMA,AUTH 2 Y.FUJIYOSHI,T.TSUKIHARATITL STRUCTURE OF THE CONNEXIN 26 GAP JUNCTION CHANNELTITL 2 AT 3.5 A RESOLUTIONREF NATURE V. 458 597 2009REFN ISSN 0028-0836PMID 19340074DOI 10.1038/NATURE07869 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]

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2YOB.A | AGXT

General Structure Information 2yob AGXT high resolution agxt_m structure 1.9Å AUTH N.MESA-TORRES,I.FABELO-ROSA,D.RIVEROL,C.YUNTA,A.ALBERT,AUTH 2 E.SALIDO,A.L.PEYTITL THE ROLE OF PROTEIN DENATURATION ENERGETICS AND MOLECULARTITL 2 CHAPERONES IN THE AGGREGATION AND MISTARGETING OF MUTANTSTITL 3 CAUSING PRIMARY HYPEROXALURIA TYPE IREF PLOS ONE V. 8 71963 2013REFN ISSN 1932-6203PMID 24205397DOI 10.1371/JOURNAL.PONE.0071963 Variant Set Distributions Ripley’s K Analysis Plots Variant […]

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2X8B.A | ACHE

General Structure Information 2x8b ACHE crystal structure of human acetylcholinesterase inhibited by aged tabun and complexed with fasciculin-ii 2.95Å AUTH E.CARLETTI,J.P.COLLETIER,F.DUPEUX,M.TROVASLET,AUTH 2 P.MASSON,F.NACHONTITL STRUCTURAL EVIDENCE THAT HUMANTITL 2 ACETYLCHOLINESTERASE INHIBITED BY TABUN AGESTITL 3 THROUGH O-DEALKYLATIONREF J.MED.CHEM. V. 53 4002 2010REFN ISSN 0022-2623PMID 20408548DOI 10.1021/JM901853B Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

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4IVC.B | JAK1

General Structure Information 4ivc JAK1 jak1 kinase (jh1 domain) in complex with the inhibitor (trans-4-{2- [(1r)-1-hydroxyethyl]imidazo[4,5-d]pyrrolo[2,3-b]pyridin-1(6h)- yl}cyclohexyl)acetonitrile 2.35Å AUTH M.ZAK,C.A.HURLEY,S.I.WARD,P.BERGERON,K.BARRETT,M.BALAZS,AUTH 2 W.S.BLAIR,R.BULL,P.CHAKRAVARTY,C.CHANG,P.CRACKETT,AUTH 3 G.DESHMUKH,J.DEVOSS,P.S.DRAGOVICH,C.EIGENBROT,C.ELLWOOD,AUTH 4 S.GAINES,N.GHILARDI,P.GIBBONS,S.GRADL,P.GRIBLING,C.HAMMAN,AUTH 5 E.HARSTAD,P.HEWITT,A.JOHNSON,T.JOHNSON,J.R.KENNY,AUTH 6 M.F.KOEHLER,P.BIR KOHLI,S.LABADIE,W.P.LEE,J.LIAO,M.LIIMATTA,AUTH 7 R.MENDONCA,R.NARUKULLA,R.PULK,A.REEVE,S.SAVAGE,S.SHIA,AUTH 8 M.STEFFEK,S.UBHAYAKAR,A.VAN ABBEMA,I.ALIAGAS,AUTH 9 B.AVITABILE-WOO,Y.XIAO,J.YANG,J.J.KULAGOWSKITITL IDENTIFICATION OF C-2 HYDROXYETHYL IMIDAZOPYRROLOPYRIDINESTITL 2 AS POTENT JAK1 INHIBITORS WITH FAVORABLE PHYSICOCHEMICALTITL 3 PROPERTIES AND HIGH […]

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2DLH.A | PTPRD

General Structure Information 2dlh PTPRD solution structure of the second fn3 domain of human receptor-type tyrosine-protein phosphatase delta -1.0Å AUTH K.SEIMIYA,F.HAYASHI,M.YOSHIDA,S.YOKOYAMATITL SOLUTION STRUCTURE OF THE SECOND FN3 DOMAIN OFTITL 2 HUMAN RECEPTOR-TYPE TYROSINE-PROTEIN PHOSPHATASETITL 3 DELTAREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4M9P.A | FLNA

General Structure Information 4m9p FLNA crystal structure of the human filamin a ig-like domains 3-5 1.72Å AUTH R.SETHI,J.SEPPALA,H.TOSSAVAINEN,M.YLILAURI,S.RUSKAMO,AUTH 2 O.T.PENTIKAINEN,U.PENTIKAINEN,P.PERMI,J.YLANNETITL A NOVEL STRUCTURAL UNIT IN THE N-TERMINAL REGION OFTITL 2 FILAMINS.REF J.BIOL.CHEM. V. 289 8588 2014REFN ISSN 0021-9258PMID 24469451DOI 10.1074/JBC.M113.537456 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3KUL.B | EPHA8

General Structure Information 3kul EPHA8 kinase domain of human ephrin type-a receptor 8 (epha8) 2.15Å AUTH J.R.WALKER,L.YERMEKBAYEVA,J.KANIA,C.BOUNTRA,J.WEIGELT,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,A.BOCHKAREV,S.DHE-PAGANONTITL KINASE DOMAIN OF HUMAN EPHRIN TYPE-A RECEPTOR 8 (EPHA8)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1TH1.C | APC

General Structure Information 1th1 APC beta-catenin in complex with a phosphorylated apc 20aa repeat fragment 2.5Å AUTH Y.XING,W.K.CLEMENTS,I.LE TRONG,T.R.HINDS,AUTH 2 R.STENKAMP,D.KIMELMAN,W.XUTITL CRYSTAL STRUCTURE OF A BETA-CATENIN/APC COMPLEXTITL 2 REVEALS A CRITICAL ROLE FOR APC PHOSPHORYLATION INTITL 3 APC FUNCTION.REF MOL.CELL V. 15 523 2004REFN ISSN 1097-2765PMID 15327769DOI 10.1016/J.MOLCEL.2004.08.001 Variant Set Distributions Ripley’s K Analysis Plots […]

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