2CKJ.A | XDH

General Structure Information 2ckj XDH human milk xanthine oxidoreductase 3.59Å AUTH A.R.PEARSON,B.L.J.GODBER,R.EISENTHAL,G.L.TAYLOR,AUTH 2 R.HARRISONTITL HUMAN MILK XANTHINE DEHYDROGENASE IS INCOMPLETELYTITL 2 CONVERTED TO THE OXIDASE FORM IN THE ABSENCE OFTITL 3 PROTEOLYSIS. A STRUCTURAL EXPLANATION.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3IKM.D | POLG

General Structure Information 3ikm POLG crystal structure of human mitochondrial dna polymerase holoenzyme 3.24Å AUTH Y.S.LEE,W.D.KENNEDY,Y.W.YINTITL STRUCTURAL INSIGHT INTO PROCESSIVE HUMANTITL 2 MITOCHONDRIAL DNA SYNTHESIS AND DISEASE-RELATEDTITL 3 POLYMERASE MUTATIONS.REF CELL(CAMBRIDGE,MASS.) V. 139 312 2009REFN ISSN 0092-8674PMID 19837034DOI 10.1016/J.CELL.2009.07.050 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2KR6.A | PSEN1

General Structure Information 2kr6 PSEN1 solution structure of presenilin-1 ctf subunit -1.0Å AUTH V.DOETSCHTITL SOLUTION STRUCTURE OF PRESENILIN-1 CTF SUBUNITREF TO BE PUBLISHEDREFN Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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2W5A.A | NEK2

General Structure Information 2w5a NEK2 human nek2 kinase adp-bound 1.55Å AUTH I.WESTWOOD,D.M.CHEARY,J.E.BAXTER,M.W.RICHARDS,AUTH 2 R.L.VAN MONTFORT,A.M.FRY,R.BAYLISSTITL INSIGHTS INTO THE CONFORMATIONAL VARIABILITY ANDTITL 2 REGULATION OF HUMAN NEK2 KINASE.REF J.MOL.BIOL. V. 386 476 2009REFN ISSN 0022-2836PMID 19124027DOI 10.1016/J.JMB.2008.12.033 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3E0J.E | POLD2

General Structure Information 3e0j POLD2 x-ray structure of the complex of regulatory subunits of human dna polymerase delta 3.0Å AUTH A.G.BARANOVSKIY,N.D.BABAYEVA,V.G.LISTON,AUTH 2 I.B.ROGOZIN,E.V.KOONIN,Y.I.PAVLOV,D.G.VASSYLYEV,AUTH 3 T.H.TAHIROVTITL X-RAY STRUCTURE OF THE COMPLEX OF REGULATORYTITL 2 SUBUNITS OF HUMAN DNA POLYMERASE DELTA.REF CELL CYCLE V. 7 3026 2008REFN ISSN 1538-4101PMID 18818516 Variant Set Distributions Mapped Variants

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3GRO.A | PPT1

General Structure Information 3gro PPT1 human palmitoyl-protein thioesterase 1 2.53Å AUTH E.DOBROVETSKY,A.SEITOVA,Y.TONG,W.TEMPEL,A.DONG,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,J.WEIGELT,AUTH 3 A.BOCHKAREV,D.COSSAR,H.PARKTITL HUMAN PALMITOYL-PROTEIN THIOESTERASE 1REF TO BE PUBLISHEDREFN Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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2W8R.A | ALDH5A1

General Structure Information 2w8r ALDH5A1 the crystal structure of human ssadh in complex with nad+ 2.4Å AUTH Y.-G.KIM,S.LEE,O.-S.KWON,S.-Y.PARK,S.-J.LEE,AUTH 2 B.-J.PARK,K.-J.KIMTITL REDOX-SWITCH MODULATION OF HUMAN SSADH BY DYNAMICTITL 2 CATALYTIC LOOP.REF EMBO J. V. 28 959 2009REFN ISSN 0261-4189PMID 19300440DOI 10.1038/EMBOJ.2009.40 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3GUB.A | DAPK1

General Structure Information 3gub DAPK1 crystal structure of dapkl93g complexed with n6-(2- phenylethyl)adenosine 1.71Å AUTH L.K.MCNAMARA,J.S.SCHAVOCKY,D.M.WATTERSON,AUTH 2 J.S.BRUNZELLETITL CRYSTAL STRUCTURES OF THE DAPK GATEKEEPER MUTANTTITL 2 COMPLEXED WITH N6-MODIFIED ADENOSINE ANALOGS.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2JRI.A | ATXN3

General Structure Information 2jri ATXN3 solution structure of the josephin domain of ataxin-3 in complex with ubiquitin molecule. -1.0Å AUTH G.NICASTRO,R.MENON,L.MASINO,A.PASTORETITL UNDERSTANDING THE PLASTICITY OF THETITL 2 UBIQUITIN-PROTEIN RECOGNITION CODE: THE JOSEPHINTITL 3 DOMAIN OF ATAXIN-3 IS A DIUBIQUITIN BINDING MOTIFREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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3II6.X | LIG4

General Structure Information 3ii6 LIG4 structure of human xrcc4 in complex with the tandem brct domains of dna ligaseiv. 2.4Å AUTH P.Y.WU,P.FRIT,S.MEESALA,S.DAUVILLIER,M.MODESTI,AUTH 2 S.N.ANDRES,Y.HUANG,J.SEKIGUCHI,P.CALSOU,B.SALLES,AUTH 3 M.S.JUNOPTITL STRUCTURAL AND FUNCTIONAL INTERACTION BETWEEN THETITL 2 HUMAN DNA REPAIR PROTEINS DNA LIGASE IV AND XRCC4REF MOL.CELL.BIOL. V. 11 3163 2009REFN ISSN 0270-7306PMID 19332554 Variant Set Distributions Ripley’s K […]

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