3PU8.B | PHF2

General Structure Information 3pu8 PHF2 phf2 jumonji-nog-fe(ii) complex 1.94Å AUTH J.R.HORTON,A.K.UPADHYAY,H.HASHIMOTO,X.ZHANG,X.CHENGTITL STRUCTURAL BASIS FOR HUMAN PHF2 JUMONJI DOMAIN INTERACTIONTITL 2 WITH METAL IONS.REF J.MOL.BIOL. V. 406 1 2011REFN ISSN 0022-2836PMID 21167174DOI 10.1016/J.JMB.2010.12.013 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3EG9.B | SEC24D

General Structure Information 3eg9 SEC24D crystal structure of the mammalian copii-coat protein sec23/24 bound to the transport signal sequence of membrin 3.0Å AUTH J.D.MANCIAS,J.GOLDBERGTITL STRUCTURAL BASIS OF CARGO MEMBRANE PROTEIN DISCRIMINATION BYTITL 2 THE HUMAN COPII COAT MACHINERY.REF EMBO J. V. 27 2918 2008REFN ISSN 0261-4189PMID 18843296DOI 10.1038/EMBOJ.2008.208 Variant Set Distributions Ripley’s K Analysis Plots […]

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3LFV.B | PDE5A

General Structure Information 3lfv PDE5A crystal structure of unliganded pde5a gaf domain 2.8Å AUTH H.WANG,H.ROBINSON,H.KETITL CONFORMATION CHANGES, N-TERMINAL INVOLVEMENT, AND CGMPTITL 2 SIGNAL RELAY IN THE PHOSPHODIESTERASE-5 GAF DOMAIN.REF J.BIOL.CHEM. V. 285 38149 2010REFN ISSN 0021-9258PMID 20861010DOI 10.1074/JBC.M110.141614 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3HU6.A | SPOP

General Structure Information 3hu6 SPOP structures of spop-substrate complexes: insights into molecular architectures of btb-cul3 ubiquitin ligases: spopmathx/btb/3-box-pucsbc1 2.7Å AUTH M.ZHUANG,M.F.CALABRESE,J.LIU,M.B.WADDELL,A.NOURSE,AUTH 2 M.HAMMEL,D.J.MILLER,H.WALDEN,D.M.DUDA,S.N.SEYEDIN,AUTH 3 T.HOGGARD,J.W.HARPER,K.P.WHITE,B.A.SCHULMANTITL STRUCTURES OF SPOP-SUBSTRATE COMPLEXES: INSIGHTSTITL 2 INTO MOLECULAR ARCHITECTURES OF BTB-CUL3 UBIQUITINTITL 3 LIGASES.REF MOL.CELL V. 36 39 2009REFN ISSN 1097-2765PMID 19818708DOI 10.1016/J.MOLCEL.2009.09.022 Variant Set Distributions Ripley’s K Analysis Plots […]

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3E6U.A | LANCL1

General Structure Information 3e6u LANCL1 crystal structure of human lancl1 2.6Å AUTH W.ZHANG,L.WANG,Y.LIU,J.XU,G.ZHU,H.CANG,X.LI,AUTH 2 M.BARTLAM,K.HENSLEY,G.LI,Z.RAO,X.C.ZHANGTITL STRUCTURE OF HUMAN LANTHIONINE SYNTHETASE C-LIKETITL 2 PROTEIN 1 AND ITS INTERACTION WITH EPS8 ANDTITL 3 GLUTATHIONEREF GENES DEV. V. 23 1387 2009REFN ISSN 0890-9369PMID 19528316DOI 10.1101/GAD.1789209 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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3L6Y.C | CTNND1

General Structure Information 3l6y CTNND1 crystal structure of p120 catenin in complex with e-cadherin 3.0Å AUTH N.ISHIYAMA,S.H.LEE,S.LIU,G.Y.LI,M.J.SMITH,L.F.REICHARDT,AUTH 2 M.IKURATITL DYNAMIC AND STATIC INTERACTIONS BETWEEN P120 CATENIN ANDTITL 2 E-CADHERIN REGULATE THE STABILITY OF CELL-CELL ADHESION.REF CELL(CAMBRIDGE,MASS.) V. 141 117 2010REFN ISSN 0092-8674PMID 20371349DOI 10.1016/J.CELL.2010.01.017 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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2F6Q.B | ECI2

General Structure Information 2f6q ECI2 the crystal structure of human peroxisomal delta3, delta2 enoyl coa isomerase (peci) 1.95Å AUTH A.TURNBULL,P.LUKACIK,N.SHAFQAT,C.SMEE,G.BERRIDGE,K.GUO,AUTH 2 F.VON DELFT,J.WEIGELT,M.SUNDSTROM,C.ARROWSMITH,A.EDWARDS,AUTH 3 O.GILEADI,U.OPPERMANNTITL THE CRYSTAL STRUCTURE OF HUMAN PEROXISOMAL DELTA3, DELTA2TITL 2 ENOYL COA ISOMERASE (PECI)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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3MTG.B | AHCYL1

General Structure Information 3mtg AHCYL1 crystal structure of human s-adenosyl homocysteine hydrolase-like 1 protein 2.64Å AUTH M.WISNIEWSKA,M.I.SIPONEN,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 C.BOUNTRA,R.COLLINS,A.M.EDWARDS,S.FLODIN,A.FLORES,AUTH 3 S.GRASLUND,M.HAMMARSTROM,I.JOHANSSON,T.KARLBERG,AUTH 4 T.KOTENYOVA,M.MOCHE,P.NORDLUND,T.NYMAN,C.PERSSON,P.SCHUTZ,AUTH 5 A.G.THORSELL,L.TRESAUGUES,S.VAN DER BERG,E.WAHLBERG,AUTH 6 J.WEIGELT,M.WELIN,H.SCHULERTITL CRYSTAL STRUCTURE OF HUMAN S-ADENOSYL HOMOCYSTEINETITL 2 HYDROLASE-LIKE 1 PROTEINREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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2C46.B | RNGTT

General Structure Information 2c46 RNGTT crystal structure of the human rna guanylyltransferase and 5-phosphatase 1.6Å AUTH J.DEBRECZENI,C.JOHANSSON,E.LONGMAN,O.GILEADI,P.SAVITSKYSMEE,AUTH 2 C.SMEE,G.BUNKOCZI,E.UGOCHUKWU,F.VON DELFT,M.SUNDSTROM,AUTH 3 J.WEIGELT,C.ARROWSMITH,A.EDWARDS,S.KNAPPTITL CRYSTAL STRUCTURE OF THE HUMAN RNA GUANYLYLTRANSFERASE ANDTITL 2 5-PHOSPHATASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3K27.A | EED

General Structure Information 3k27 EED complex structure of eed and trimethylated h3k9 1.76Å AUTH C.XU,C.BIAN,W.YANG,M.GALKA,H.OUYANG,C.CHEN,W.QIU,H.LIU,AUTH 2 A.E.JONES,F.MACKENZIE,P.PAN,S.S.LI,H.WANG,J.MINTITL BINDING OF DIFFERENT HISTONE MARKS DIFFERENTIALLY REGULATESTITL 2 THE ACTIVITY AND SPECIFICITY OF POLYCOMB REPRESSIVE COMPLEXTITL 3 2 (PRC2).REF PROC.NATL.ACAD.SCI.USA V. 107 19266 2010REFN ISSN 0027-8424PMID 20974918DOI 10.1073/PNAS.1008937107 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

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