4BOC.A | POLRMT

General Structure Information 4boc POLRMT structure of mitochondrial rna polymerase elongation complex 2.65Å AUTH K.SCHWINGHAMMER,A.C.M.CHEUNG,Y.I.MOROZOV,K.AGARONYAN,AUTH 2 D.TEMIAKOV,P.CRAMERTITL STRUCTURE OF HUMAN MITOCHONDRIAL RNA POLYMERASE ELONGATIONTITL 2 COMPLEXREF NAT.STRUCT.MOL.BIOL. V. 20 1298 2013REFN ISSN 1545-9993PMID 24096365DOI 10.1038/NSMB.2683 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1ZJK.A | MASP2

General Structure Information 1zjk MASP2 crystal structure of the zymogen catalytic region of human masp-2 2.18Å AUTH P.GAL,V.HARMAT,A.KOCSIS,T.BIAN,L.BARNA,G.AMBRUS,B.VEGH,AUTH 2 J.BALCZER,R.B.SIM,G.NARAY-SZABO,P.ZAVODSZKYTITL A TRUE AUTOACTIVATING ENZYME: STRUCTURAL INSIGHT INTOTITL 2 MANNOSE-BINDING LECTIN-ASSOCIATED SERINE PROTEASE-2TITL 3 ACTIVATIONSREF J.BIOL.CHEM. V. 280 33435 2005REFN ISSN 0021-9258PMID 16040602DOI 10.1074/JBC.M506051200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]

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2WL1.A | MEFV

General Structure Information 2wl1 MEFV pyrin pryspry domain 1.35Å AUTH C.WEINERT,C.GRUETTER,H.ROSCHITZKI-VOSER,P.R.MITTL,AUTH 2 M.G.GRUETTERTITL THE CRYSTAL STRUCTURE OF HUMAN PYRIN B30.2 DOMAIN:TITL 2 IMPLICATIONS FOR MUTATIONS ASSOCIATED WITHTITL 3 FAMILIAL MEDITERRANEAN FEVER.REF J.MOL.BIOL. V. 394 226 2009REFN ISSN 0022-2836PMID 19729025DOI 10.1016/J.JMB.2009.08.059 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2VAF.A | CASQ2

General Structure Information 2vaf CASQ2 crystal structure of human cardiac calsequestrin 3.8Å AUTH E.KIM,B.YOUN,L.KEMPER,C.CAMPBELL,H.MILTING,AUTH 2 M.VARSANYI,C.KANGTITL CHARACTERIZATION OF HUMAN CARDIAC CALSEQUESTRINTITL 2 AND ITS DELETERIOUS MUTANTS.REF J.MOL.BIOL. V. 373 1047 2007REFN ISSN 0022-2836PMID 17881003DOI 10.1016/J.JMB.2007.08.055 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2R5T.A | SGK1

General Structure Information 2r5t SGK1 crystal structure of inactive serum and glucocorticoid- regulated kinase 1 in complex with amp-pnp 1.9Å AUTH B.ZHAO,R.LEHR,A.M.SMALLWOOD,T.F.HO,K.MALEY,AUTH 2 T.RANDALL,M.S.HEAD,K.K.KORETKE,C.G.SCHNACKENBERGTITL CRYSTAL STRUCTURE OF THE KINASE DOMAIN OF SERUMTITL 2 AND GLUCOCORTICOID-REGULATED KINASE 1 IN COMPLEXTITL 3 WITH AMP PNP.REF PROTEIN SCI. V. 16 2761 2007REFN ISSN 0961-8368PMID 17965184DOI 10.1110/PS.073161707 Variant Set […]

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2EQM.A | PHF20L1

General Structure Information 2eqm PHF20L1 solution structure of the tudor domain of phd finger protein 20-like 1 [homo sapiens] -1.0Å AUTH W.DANG,Y.MUTO,M.INOUE,T.KIGAWA,M.SHIROUZU,T.TARADA,AUTH 2 S.YOKOYAMATITL SOLUTION STRUCTURE OF THE TUDOR DOMAIN OF PHDTITL 2 FINGER PROTEIN 20-LIKE 1 [HOMO SAPIENS]REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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3MTT.A | PIK3R2

General Structure Information 3mtt PIK3R2 crystal structure of ish2 domain of human p85beta, northeast structural genomics consortium target hr5531c 3.3Å AUTH C.SCHAUDER,L.C.MA,R.M.KRUG,G.T.MONTELIONE,R.GUANTITL STRUCTURE OF THE ISH2 DOMAIN OF HUMAN PHOSPHATIDYLINOSITOLTITL 2 3-KINASE P85BETA SUBUNIT REVEALS CONFORMATIONAL PLASTICITYTITL 3 IN THE INTERHELICAL TURN REGIONREF ACTA CRYSTALLOGR.,SECT.F V. 66 1567 2010REFN ESSN 1744-3091PMID 21139197DOI 10.1107/S1744309110041333 Variant Set […]

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2B2T.B | CHD1

General Structure Information 2b2t CHD1 tandem chromodomains of human chd1 complexed with histone h3 tail containing trimethyllysine 4 and phosphothreonine 3 2.45Å AUTH J.F.FLANAGAN,L.Z.MI,M.CHRUSZCZ,M.CYMBOROWSKI,AUTH 2 K.L.CLINES,Y.KIM,W.MINOR,F.RASTINEJAD,AUTH 3 S.KHORASANIZADEHTITL DOUBLE CHROMODOMAINS COOPERATE TO RECOGNIZE THETITL 2 METHYLATED HISTONE H3 TAIL.REF NATURE V. 438 1181 2005REFN ISSN 0028-0836PMID 16372014DOI 10.1038/NATURE04290 Variant Set Distributions Mapped Variants

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1UF0.A | DCLK1

General Structure Information 1uf0 DCLK1 solution structure of the n-terminal dcx domain of human doublecortin-like kinase -1.0Å AUTH K.SAITO,T.KIGAWA,S.KOSHIBA,M.INOUE,S.YOKOYAMATITL SOLUTION STRUCTURE OF THE N-TERMINAL DCX DOMAIN OFTITL 2 HUMAN DOUBLECORTIN-LIKE KINASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2YDJ.B | CHEK1

General Structure Information 2ydj CHEK1 discovery of checkpoint kinase inhibitor azd7762 by structure based design and optimization of thiophene carboxamide ureas 1.85Å AUTH V.OZA,S.ASHWELL,L.ALMEIDA,P.BRASSIL,J.BREED,C.DENG,T.GERO,AUTH 2 M.GRONDINE,C.HORN,S.IOANNIDIS,D.LIU,P.LYNE,N.NEWCOMBE,AUTH 3 M.PASS,J.A.READ,S.READY,S.ROWSELL,M.SU,D.TOADER,M.VASBINDER,AUTH 4 D.YU,Y.YU,Y.XUE,S.ZABLUDOFF,J.JANETKATITL DISCOVERY OF CHECKPOINT KINASE INHIBITOR (S)-5-(3-TITL 2 FLUOROPHENYL)-N-(PIPERIDIN-3-YL)-3-UREIDOTHIOPHENE-2-TITL 3 CARBOXAMIDE (AZD7762) BY STRUCTURE-BASED DESIGN ANDTITL 4 OPTIMIZATION OF THIOPHENECARBOXAMIDE UREAS.REF J.MED.CHEM. V. 55 5130 2012REFN […]

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