2WAX.A | DDX6

General Structure Information 2wax DDX6 structure of the human ddx6 c-terminal domain in complex with an edc3-fdf peptide 2.3Å AUTH F.TRITSCHLER,J.E.BRAUN,A.EULALIO,V.TRUFFAULT,AUTH 2 E.IZAURRALDE,O.WEICHENRIEDERTITL STRUCTURAL BASIS FOR THE MUTUALLY EXCLUSIVETITL 2 ANCHORING OF P BODY COMPONENTS EDC3 AND TRAL TOTITL 3 THE DEAD BOX PROTEIN DDX6/ME31B.REF MOL.CELL V. 33 661 2009REFN ISSN 1097-2765PMID 19285948DOI 10.1016/J.MOLCEL.2009.02.014 Variant […]

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1N8S.A | PNLIP

General Structure Information 1n8s PNLIP structure of the pancreatic lipase-colipase complex 3.04Å AUTH H.VAN TILBEURGH,L.SARDA,R.VERGER,C.CAMBILLAUTITL STRUCTURE OF THE PANCREATIC LIPASE-PROCOLIPASETITL 2 COMPLEXREF NATURE V. 359 159 1992REFN ISSN 0028-0836PMID 1522902DOI 10.1038/359159A0 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1L8K.A | PTPN2

General Structure Information 1l8k PTPN2 t cell protein-tyrosine phosphatase structure 2.56Å AUTH L.F.IVERSEN,K.B.MOLLER,A.K.PEDERSEN,G.H.PETERS,AUTH 2 A.S.PETERSEN,H.S.ANDERSEN,S.BRANNER,S.B.MORTENSEN,AUTH 3 N.P.MOLLERTITL STRUCTURE DETERMINATION OF T CELL PROTEIN-TYROSINETITL 2 PHOSPHATASE.REF J.BIOL.CHEM. V. 277 19982 2002REFN ISSN 0021-9258PMID 11907034DOI 10.1074/JBC.M200567200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3FE2.B | DDX5

General Structure Information 3fe2 DDX5 human dead-box rna helicase ddx5 (p68), conserved domain i in complex with adp 2.6Å AUTH P.SCHUTZ,T.KARLBERG,S.VAN DEN BERG,R.COLLINS,L.LEHTIO,AUTH 2 M.HOGBOM,L.HOLMBERG-SCHIAVONE,W.TEMPEL,H.W.PARK,AUTH 3 M.HAMMARSTROM,M.MOCHE,A.G.THORSELL,H.SCHULERTITL COMPARATIVE STRUCTURAL ANALYSIS OF HUMAN DEAD-BOX RNATITL 2 HELICASESREF PLOS ONE V. 5 E1279 2010REFN ESSN 1932-6203PMID 20941364DOI 10.1371/JOURNAL.PONE.0012791 Variant Set Distributions Mapped Variants

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1ND5.A | ACPP

General Structure Information 1nd5 ACPP crystal structures of human prostatic acid phosphatase in complex with a phosphate ion and alpha-benzylaminobenzylphosphonic acid update the mechanistic picture and offer new insights into inhibitor design 2.9Å AUTH E.ORTLUND,M.W.LACOUNT,L.LEBIODATITL CRYSTAL STRUCTURES OF HUMAN PROSTATIC ACID PHOSPHATASE INTITL 2 COMPLEX WITH A PHOSPHATE ION ANDTITL 3 ALPHA-BENZYLAMINOBENZYLPHOSPHONIC ACID UPDATE THETITL […]

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4ERN.A | ERCC3

General Structure Information 4ern ERCC3 crystal structure of the c-terminal domain of human xpb/ercc-3 excision repair protein at 1.80 a 1.8Å AUTH E.HILARIO,Y.LI,Y.NOBUMORI,X.LIU,L.FANTITL STRUCTURE OF THE C-TERMINAL HALF OF HUMAN XPB HELICASE ANDTITL 2 THE IMPACT OF THE DISEASE-CAUSING MUTATION XP11BE.REF ACTA CRYSTALLOGR.,SECT.D V. 69 237 2013REFN ISSN 0907-4449PMID 23385459DOI 10.1107/S0907444912045040 Variant Set Distributions Ripley’s […]

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1YFK.A | PGAM1

General Structure Information 1yfk PGAM1 crystal structure of human b type phosphoglycerate mutase 2.7Å AUTH Y.WANG,Z.WEI,L.LIU,Z.CHENG,Y.LIN,F.JI,W.GONGTITL CRYSTAL STRUCTURE OF HUMAN B-TYPE PHOSPHOGLYCERATETITL 2 MUTASE BOUND WITH CITRATE.REF BIOCHEM.BIOPHYS.RES.COMMUN. V. 331 1207 2005REFN ISSN 0006-291XPMID 15883004DOI 10.1016/J.BBRC.2005.03.243 Variant Set Distributions Mapped Variants

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3THC.A | GLB1

General Structure Information 3thc GLB1 crystal structure of human beta-galactosidase in complex with galactose 1.8Å AUTH U.OHTO,K.USUI,T.OCHI,K.YUKI,Y.SATOW,T.SHIMIZUTITL CRYSTAL STRUCTURE OF HUMAN BETA-GALACTOSIDASE: STRUCTURALTITL 2 BASIS OF GM1 GANGLIOSIDOSIS AND MORQUIO B DISEASESREF J.BIOL.CHEM. V. 287 1801 2012REFN ISSN 0021-9258PMID 22128166DOI 10.1074/JBC.M111.293795 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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1XMI.D | CFTR

General Structure Information 1xmi CFTR crystal structure of human f508a nbd1 domain with atp 2.25Å AUTH H.A.LEWIS,X.ZHAO,C.WANG,J.M.SAUDER,I.ROONEY,B.W.NOLAND,AUTH 2 D.LORIMER,M.C.KEARINS,K.CONNERS,B.CONDON,P.C.MALONEY,AUTH 3 W.B.GUGGINO,J.F.HUNT,S.EMTAGETITL IMPACT OF THE DELTA-F508 MUTATION IN FIRSTTITL 2 NUCLEOTIDE-BINDING DOMAIN OF HUMAN CYSTIC FIBROSISTITL 3 TRANSMEMBRANE CONDUCTANCE REGULATOR ON DOMAIN FOLDING ANDTITL 4 STRUCTUREREF J.BIOL.CHEM. V. 280 1346 2005REFN ISSN 0021-9258PMID 15528182DOI 10.1074/JBC.M410968200 Variant […]

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2OKN.A | PEPD

General Structure Information 2okn PEPD crystal strcture of human prolidase 2.45Å AUTH U.MUELLER,F.H.NIESEN,Y.ROSKE,F.GOETZ,J.BEHLKE,K.BUESSOW,AUTH 2 U.HEINEMANNTITL CRYSTAL STRUCTURE OF HUMAN PROLIDASE: THE MOLECULAR BASIS OFTITL 2 PD DISEASE.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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