3TT9.A | PKP2

General Structure Information 3tt9 PKP2 crystal structure of the stable degradation fragment of human plakophilin 2 isoform a (pkp2a) c752r variant 1.55Å AUTH F.KIRCHNER,A.SCHUETZ,L.H.BOLDT,K.MARTENS,G.DITTMAR,AUTH 2 W.HAVERKAMP,L.THIERFELDER,U.HEINEMANN,B.GERULLTITL MOLECULAR INSIGHTS INTO ARRHYTHMOGENIC RIGHT VENTRICULARTITL 2 CARDIOMYOPATHY CAUSED BY PLAKOPHILIN-2 MISSENSE MUTATIONS.REF CIRC CARDIOVASC GENET V. 5 400 2012REFN ISSN 1942-325XPMID 22781308DOI 10.1161/CIRCGENETICS.111.961854 Variant Set Distributions Pathogenic Proximity […]

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3CZ9.A | PARK7

General Structure Information 3cz9 PARK7 crystal structure of e18l dj-1 1.15Å AUTH A.C.WITT,M.LAKSHMINARASIMHAN,B.C.REMINGTON,S.HASIM,AUTH 2 E.POZHARSKI,M.A.WILSONTITL CYSTEINE PKA DEPRESSION BY A PROTONATED GLUTAMICTITL 2 ACID IN HUMAN DJ-1.REF BIOCHEMISTRY V. 47 7430 2008REFN ISSN 0006-2960PMID 18570440DOI 10.1021/BI800282D Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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2L4M.A | ZBP1

General Structure Information 2l4m ZBP1 solution structure of the zbeta domain of human dai and its binding modes to b- and z-dna -1.0Å AUTH K.KIM,B.KHAYRUTDINOV,C.-K.LEE,H.-K.CHEONG,S.KANG,H.PARK,AUTH 2 S.LEE,Y.-G.KIM,J.-G.JEE,A.RICH,K.K.KIM,Y.H.JEONTITL SOLUTION STRUCTURE OF THE ZBETA DOMAIN OF HUMANTITL 2 DNA-DEPENDENT ACTIVATOR OF IFN-REGULATORY FACTORS AND ITSTITL 3 BINDING MODES TO B- AND Z-DNAREF PROC.NATL.ACAD.SCI.USA 2011REFN ESSN 1091-6490 Variant […]

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4GFV.A | PTPN18

General Structure Information 4gfv PTPN18 ptpn18 in complex with her2-py1196 phosphor-peptides 2.1Å AUTH H.M.WANG,F.YANG,Y.J.DU,D.X.YANG,Y.ZHANG,X.YU,J.P.SUNTITL PTPN18-HER2 PEPTIDESREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1R42.A | ACE2

General Structure Information 1r42 ACE2 native human angiotensin converting enzyme-related carboxypeptidase (ace2) 2.2Å AUTH P.TOWLER,B.STAKER,S.G.PRASAD,S.MENON,J.TANG,T.PARSONS,AUTH 2 D.RYAN,M.FISHER,D.WILLIAMS,N.A.DALES,M.A.PATANE,AUTH 3 M.W.PANTOLIANOTITL ACE2 X-RAY STRUCTURES REVEAL A LARGE HINGE-BENDING MOTIONTITL 2 IMPORTANT FOR INHIBITOR BINDING AND CATALYSIS.REF J.BIOL.CHEM. V. 279 17996 2004REFN ISSN 0021-9258PMID 14754895DOI 10.1074/JBC.M311191200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]

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3QF2.B | NLRP3

General Structure Information 3qf2 NLRP3 crystal structure of nalp3 pyd 1.7Å AUTH J.Y.BAE,H.H.PARKTITL CRYSTAL STRUCTURE OF NALP3 PROTEIN PYRIN DOMAIN (PYD) ANDTITL 2 ITS IMPLICATIONS IN INFLAMMASOME ASSEMBLYREF J.BIOL.CHEM. V. 286 39528 2011REFN ISSN 0021-9258PMID 21880711DOI 10.1074/JBC.M111.278812 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1YDE.L | HSD17B14

General Structure Information 1yde HSD17B14 crystal structure of human retinal short-chain dehydrogenase/reductase 3 2.4Å AUTH P.LUKACIK,B.KELLER,G.BUNKOCZI,K.L.KAVANAGH,K.KAVANAGH,AUTH 2 W.H.LEE,W.HWA LEE,J.ADAMSKI,U.OPPERMANNTITL STRUCTURAL AND BIOCHEMICAL CHARACTERIZATION OF HUMAN ORPHANTITL 2 DHRS10 REVEALS A NOVEL CYTOSOLIC ENZYME WITH STEROIDTITL 3 DEHYDROGENASE ACTIVITY.REF BIOCHEM.J. V. 402 419 2007REFN ISSN 0264-6021PMID 17067289DOI 10.1042/BJ20061319 Variant Set Distributions Ripley’s K Analysis Plots Variant […]

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2PQF.B | PARP12

General Structure Information 2pqf PARP12 human poly(adp-ribose) polymerase 12, catalytic fragment in complex with an inhibitor 3-aminobenzoic acid 2.2Å AUTH T.KARLBERG,M.KLEPSCH,A.G.THORSELL,C.D.ANDERSSON,A.LINUSSON,AUTH 2 H.SCHULERTITL STRUCTURAL BASIS FOR LACK OF ADP-RIBOSYLTRANSFERASE ACTIVITYTITL 2 IN POLY(ADP-RIBOSE) POLYMERASE-13/ZINC FINGER ANTIVIRALTITL 3 PROTEIN.REF J.BIOL.CHEM. V. 290 7336 2015REFN ISSN 0021-9258PMID 25635049DOI 10.1074/JBC.M114.630160 Variant Set Distributions Ripley’s K Analysis Plots Variant […]

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4LT6.A | PAPOLG

General Structure Information 4lt6 PAPOLG crystal structure of human poly(a) polymerase gamma 2.79Å AUTH Q.YANG,L.W.NAUSCH,G.MARTIN,W.KELLER,S.DOUBLIETITL CRYSTAL STRUCTURE OF HUMAN POLY(A) POLYMERASE GAMMA REVEALSTITL 2 A CONSERVED CATALYTIC CORE FOR CANONICAL POLY(A)TITL 3 POLYMERASES.REF J.MOL.BIOL. V. 426 43 2014REFN ISSN 0022-2836PMID 24076191DOI 10.1016/J.JMB.2013.09.025 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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2NSQ.A | NEDD4L

General Structure Information 2nsq NEDD4L crystal structure of the c2 domain of the human e3 ubiquitin-protein ligase nedd4-like protein 1.85Å AUTH J.R.WALKER,G.V.AVVAKUMOV,S.XUE,C.BUTLER-COLE,AUTH 2 P.J.FINERTY JR.,J.WEIGELT,M.SUNDSTROM,C.H.ARROWSMITH,AUTH 3 A.M.EDWARDS,A.BOCHKAREV,S.DHE-PAGANONTITL THE C2 DOMAIN OF THE HUMAN E3 UBIQUITIN-PROTEIN LIGASETITL 2 NEDD4-LIKE PROTEINREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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