3D42.A | PTPN7

General Structure Information 3d42 PTPN7 crystal structure of heptp in complex with a monophosphorylated erk2 peptide 2.46Å AUTH D.A.CRITTON,A.TORTAJADA,G.STETSON,W.PETI,R.PAGETITL STRUCTURAL BASIS OF SUBSTRATE RECOGNITION BY HEMATOPOIETICTITL 2 TYROSINE PHOSPHATASE.REF BIOCHEMISTRY V. 47 13336 2008REFN ISSN 0006-2960PMID 19053285DOI 10.1021/BI801724N Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1AM9.A | SREBF1

General Structure Information 1am9 SREBF1 human srebp-1a bound to ldl receptor promoter 2.3Å AUTH A.PARRAGA,L.BELLSOLELL,A.R.FERRE-DAMARE,S.K.BURLEYTITL CO-CRYSTAL STRUCTURE OF STEROL REGULATORY ELEMENTTITL 2 BINDING PROTEIN 1A AT 2.3 A RESOLUTION.REF STRUCTURE V. 6 661 1998REFN ISSN 0969-2126PMID 9634703DOI 10.1016/S0969-2126(98)00067-7 Variant Set Distributions Mapped Variants

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2AEX.A | CPOX

General Structure Information 2aex CPOX the 1.58a crystal structure of human coproporphyrinogen oxidase reveals the structural basis of hereditary coproporphyria 1.58Å AUTH D.S.LEE,E.FLACHSOVA,M.BODNAROVA,B.DEMELER,P.MARTASEK,AUTH 2 C.S.RAMANTITL STRUCTURAL BASIS OF HEREDITARY COPROPORPHYRIA.REF PROC.NATL.ACAD.SCI.USA V. 102 14232 2005REFN ISSN 0027-8424PMID 16176984DOI 10.1073/PNAS.0506557102 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1BJ4.A | SHMT1

General Structure Information 1bj4 SHMT1 recombinant serine hydroxymethyltransferase (human) 2.65Å AUTH S.B.RENWICK,K.SNELL,U.BAUMANNTITL THE CRYSTAL STRUCTURE OF HUMAN CYTOSOLIC SERINETITL 2 HYDROXYMETHYLTRANSFERASE: A TARGET FOR CANCER CHEMOTHERAPYREF STRUCTURE V. 6 1105 1998REFN ISSN 0969-2126PMID 9753690DOI 10.1016/S0969-2126(98)00112-9 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4DIN.B | PRKAR1B

General Structure Information 4din PRKAR1B novel localization and quaternary structure of the pka ri beta holoenzyme 3.7Å AUTH R.ILOUZ,J.BUBIS,J.WU,Y.Y.YIM,M.S.DEAL,A.P.KORNEV,Y.MA,AUTH 2 D.K.BLUMENTHAL,S.S.TAYLORTITL LOCALIZATION AND QUATERNARY STRUCTURE OF THE PKA RI BETATITL 2 HOLOENZYMEREF PROC.NATL.ACAD.SCI.USA V. 109 12443 2012REFN ISSN 0027-8424PMID 22797896DOI 10.1073/PNAS.1209538109 Variant Set Distributions Mapped Variants

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1B4Q.A | GLRX

General Structure Information 1b4q GLRX solution structure of human thioltransferase complex with glutathione -1.0Å AUTH Y.YANG,S.JAO,S.NANDURI,D.W.STARKE,J.J.MIEYAL,J.QINTITL REACTIVITY OF THE HUMAN THIOLTRANSFERASE (GLUTAREDOXIN) C7S,TITL 2 C25S, C78S, C82S MUTANT AND NMR SOLUTION STRUCTURE OF ITSTITL 3 GLUTATHIONYL MIXED DISULFIDE INTERMEDIATE REFLECT CATALYTICTITL 4 SPECIFICITY.REF BIOCHEMISTRY V. 37 17145 1998REFN ISSN 0006-2960PMID 9860827DOI 10.1021/BI9806504 Variant Set Distributions […]

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2KOY.A | ATP7B

General Structure Information 2koy ATP7B structure of the e1064a mutant of the n-domain of wilson disease associated protein -1.0Å AUTH O.Y.DMITRIEV,S.L.LUTSENKO,E.E.UHLEMANNTITL THE STRUCTURE OF THE E1064A MUTANT REVEALS ATP-DEPENDENTTITL 2 CONFORMATIONAL CHANGES IN THE ATP7B N-DOMAIN.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2DFD.C | MDH2

General Structure Information 2dfd MDH2 crystal structure of human malate dehydrogenase type 2 1.9Å AUTH E.UGOCHUKWU,N.SHAFQAT,A.ROJKOVA,M.SUNDSTROM,C.ARROWSMITH,AUTH 2 J.WEIGELT,A.EDWARDS,F.VON DELFT,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN MALATE DEHYDROGENASE TYPE 2REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4EA3.B | OPRL1

General Structure Information 4ea3 OPRL1 structure of the n/ofq opioid receptor in complex with a peptide mimetic 3.01Å AUTH A.A.THOMPSON,W.LIU,E.CHUN,V.KATRITCH,H.WU,E.VARDY,X.P.HUANG,AUTH 2 C.TRAPELLA,R.GUERRINI,G.CALO,B.L.ROTH,V.CHEREZOV,R.C.STEVENSTITL STRUCTURE OF THE NOCICEPTIN/ORPHANIN FQ RECEPTOR IN COMPLEXTITL 2 WITH A PEPTIDE MIMETIC.REF NATURE V. 485 395 2012REFN ISSN 0028-0836PMID 22596163DOI 10.1038/NATURE11085 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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3RJM.B | CASP2

General Structure Information 3rjm CASP2 caspase2 in complex with chdi ligand 33c 2.55Å AUTH M.C.MAILLARD,F.A.BROOKFIELD,S.M.COURTNEY,F.M.EUSTACHE,AUTH 2 M.J.GEMKOW,R.K.HANDEL,L.C.JOHNSON,P.D.JOHNSON,M.A.KERRY,AUTH 3 F.KRIEGER,M.MENICONI,I.MUNOZ-SANJUAN,J.J.PALFREY,H.PARK,AUTH 4 S.SCHAERTL,M.G.TAYLOR,D.WEDDELL,C.DOMINGUEZTITL EXPLOITING DIFFERENCES IN CASPASE-2 AND -3 S(2) SUBSITES FORTITL 2 SELECTIVITY: STRUCTURE-BASED DESIGN, SOLID-PHASE SYNTHESISTITL 3 AND IN VITRO ACTIVITY OF NOVEL SUBSTRATE-BASED CASPASE-2TITL 4 INHIBITORS.REF BIOORG.MED.CHEM. V. 19 5833 2011REFN ISSN 0968-0896PMID 21903398DOI […]

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