4N4F.A | CREBBP

General Structure Information 4n4f CREBBP crystal structure of the bromodomain-phd finger module of human transcriptional co-activator cbp in complex with di-acetylated histone 4 peptide (h412ack16ac). 1.83Å AUTH A.N.PLOTNIKOV,S.YANG,T.J.ZHOU,E.RUSINOVA,A.FRASCA,M.M.ZHOUTITL STRUCTURAL INSIGHTS INTO ACETYLATED-HISTONE H4 RECOGNITIONTITL 2 BY THE BROMODOMAIN-PHD FINGER MODULE OF HUMANTITL 3 TRANSCRIPTIONAL COACTIVATOR CBP.REF STRUCTURE V. 22 353 2014REFN ISSN 0969-2126PMID 24361270DOI 10.1016/J.STR.2013.10.021 […]

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2WWM.D | TTN

General Structure Information 2wwm TTN crystal structure of the titin m10-obscurin like 1 ig complex in space group p1 2.3Å AUTH S.PERNIGO,A.FUKUZAWA,M.BERTZ,M.HOLT,M.RIEF,R.A.STEINER,AUTH 2 M.GAUTELTITL STRUCTURAL INSIGHT INTO M-BAND ASSEMBLY AND MECHANICS FROMTITL 2 THE TITIN-OBSCURIN-LIKE-1 COMPLEX.REF PROC.NATL.ACAD.SCI.USA V. 107 2908 2010REFN ISSN 0027-8424PMID 20133654DOI 10.1073/PNAS.0913736107 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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3U1K.D | PNPT1

General Structure Information 3u1k PNPT1 crystal structure of human pnpase 2.13Å AUTH C.L.LIN,Y.-T.WANG,W.-Z.YANG,Y.-Y.HSIAO,H.S.YUANTITL CRYSTAL STRUCTURE OF HUMAN POLYNUCLEOTIDE PHOSPHORYLASE:TITL 2 INSIGHTS INTO ITS DOMAIN FUNCTION IN RNA BINDING ANDTITL 3 DEGRADATIONREF NUCLEIC ACIDS RES. V. 40 4146 2012REFN ISSN 0305-1048PMID 22210891DOI 10.1093/NAR/GKR1281 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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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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4KIT.C | PRPF8

General Structure Information 4kit PRPF8 crystal structure of human brr2 in complex with the prp8 jab1/mpn domain 3.6Å AUTH S.MOZAFFARI-JOVIN,T.WANDERSLEBEN,K.F.SANTOS,C.L.WILL,AUTH 2 R.LUHRMANN,M.C.WAHLTITL INHIBITION OF RNA HELICASE BRR2 BY THE C-TERMINAL TAIL OFTITL 2 THE SPLICEOSOMAL PROTEIN PRP8.REF SCIENCE V. 341 80 2013REFN ISSN 0036-8075PMID 23704370DOI 10.1126/SCIENCE.1237515 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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2K60.A | STIM1

General Structure Information 2k60 STIM1 nmr structure of calcium-loaded stim1 ef-sam -1.0Å AUTH P.B.STATHOPULOS,L.ZHENG,G.Y.LI,M.J.PLEVIN,M.IKURATITL STRUCTURAL AND MECHANISTIC INSIGHTS INTO STIM1-MEDIATEDTITL 2 INITIATION OF STORE-OPERATED CALCIUM ENTRY.REF CELL(CAMBRIDGE,MASS.) V. 135 110 2008REFN ISSN 0092-8674PMID 18854159DOI 10.1016/J.CELL.2008.08.006 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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1G88.A | SMAD4

General Structure Information 1g88 SMAD4 s4afl3arg515 mutant 3.0Å AUTH B.M.CHACKO,B.QIN,J.J.CORREIA,S.S.LAM,AUTH 2 M.P.DE CAESTECKER,K.LINTITL THE L3 LOOP AND C-TERMINAL PHOSPHORYLATION JOINTLYTITL 2 DEFINE SMAD PROTEIN TRIMERIZATION.REF NAT.STRUCT.BIOL. V. 8 248 2001REFN ISSN 1072-8368PMID 11224571DOI 10.1038/84995 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3N1P.B | IHH

General Structure Information 3n1p IHH crystal structure of ihhn bound to bocfn3 2.7Å AUTH J.M.KAVRAN,M.D.WARD,O.O.OLADOSU,S.MULEPATI,D.J.LEAHYTITL ALL MAMMALIAN HEDGEHOG PROTEINS INTERACT WITH CDO AND BOCTITL 2 IN A CONSERVED MANNER.REF J.BIOL.CHEM. 2010REFN ESSN 1083-351XPMID 20519495DOI 10.1074/JBC.M110.131680 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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3N1P.B | IHH

General Structure Information 3n1p IHH crystal structure of ihhn bound to bocfn3 2.7Å AUTH J.M.KAVRAN,M.D.WARD,O.O.OLADOSU,S.MULEPATI,D.J.LEAHYTITL ALL MAMMALIAN HEDGEHOG PROTEINS INTERACT WITH CDO AND BOCTITL 2 IN A CONSERVED MANNER.REF J.BIOL.CHEM. 2010REFN ESSN 1083-351XPMID 20519495DOI 10.1074/JBC.M110.131680 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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