3DH1.A | ADAT2

General Structure Information 3dh1 ADAT2 crystal structure of human trna-specific adenosine-34 deaminase subunit adat2 2.8Å AUTH M.WELIN,L.TRESAUGUES,J.ANDERSSON,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 R.COLLINS,L.G.DAHLGREN,A.M.EDWARDS,S.FLODIN,A.FLORES,AUTH 3 S.GRASLUND,M.HAMMARSTROM,A.JOHANSSON,I.JOHANSSON,T.KARLBERG,AUTH 4 T.KOTENYOVA,L.LEHTIO,M.MOCHE,M.E.NILSSON,T.NYMAN,K.OLESEN,AUTH 5 C.PERSSON,J.SAGEMARK,H.SCHUELER,A.G.THORSELL,S.VAN DER BERG,AUTH 6 M.WISNIEWSKA,M.WIKSTROM,P.NORDLUNDTITL CRYSTAL STRUCTURE OF HUMAN TRNA-SPECIFIC ADENOSINE-34TITL 2 DEAMINASE SUBUNIT ADAT2.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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3IUY.A | DDX53

General Structure Information 3iuy DDX53 crystal structure of ddx53 dead-box domain 2.4Å 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 HELICASES.REF PLOS ONE V. 5 12791 2010REFN ESSN 1932-6203PMID 20941364DOI 10.1371/JOURNAL.PONE.0012791 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2OCI.A | BPHL

General Structure Information 2oci BPHL crystal structure of valacyclovir hydrolase complexed with a product analogue 1.9Å AUTH L.LAI,Z.XU,J.ZHOU,K.D.LEE,G.L.AMIDONTITL MOLECULAR BASIS OF PRODRUG ACTIVATION BY HUMANTITL 2 VALACYCLOVIRASE, AN ALPHA-AMINO ACID ESTERTITL 3 HYDROLASE.REF J.BIOL.CHEM. V. 283 9318 2008REFN ISSN 0021-9258PMID 18256025DOI 10.1074/JBC.M709530200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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2ESB.A | DUSP18

General Structure Information 2esb DUSP18 crystal structure of human dusp18 2.0Å AUTH D.G.JEONG,Y.H.CHO,T.S.YOON,J.H.KIM,J.H.SON,S.E.RYU,AUTH 2 S.J.KIMTITL STRUCTURE OF HUMAN DSP18, A MEMBER OF THETITL 2 DUAL-SPECIFICITY PROTEIN TYROSINE PHOSPHATASETITL 3 FAMILY.REF ACTA CRYSTALLOGR.,SECT.D V. 62 582 2006REFN ISSN 0907-4449PMID 16699184DOI 10.1107/S0907444906010109 Variant Set Distributions Mapped Variants

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3O47.A | ARFGAP1

General Structure Information 3o47 ARFGAP1 crystal structure of arfgap1-arf1 fusion protein 2.8Å AUTH H.WANG,Y.TONG,L.NEDYALKOVA,W.TEMPEL,X.GUAN,L.CROMBET,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,J.WEIGELT,A.BOCHKAREV,AUTH 3 H.PARKTITL CRYSTAL STRUCTURE OF ARFGAP1-ARF1 FUSION PROTEINREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3K2I.A | ACOT4

General Structure Information 3k2i ACOT4 human acyl-coenzyme a thioesterase 4 2.4Å AUTH M.I.SIPONEN,M.MOCHE,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 C.BOUNTRA,R.COLLINS,A.M.EDWARDS,S.FLODIN,A.FLORES,AUTH 3 S.GRASLUND,M.HAMMARSTROM,A.JOHANSSON,I.JOHANSSON,AUTH 4 A.KALLAS,T.KARLBERG,P.KRAULIS,T.KOTENYOVA,AUTH 5 A.KOTZSCH,N.MARKOVA,T.K.NIELSEN,P.NORDLUND,T.NYMAN,AUTH 6 C.PERSSON,A.K.ROOS,P.SCHUTZ,L.SVENSSON,AUTH 7 A.G.THORSELL,L.TRESAUGUES,S.VAN DEN BERG,AUTH 8 E.WAHLBERG,J.WEIGELT,M.WELIN,M.WISNIEWSKA,H.SCHULERTITL HUMAN ACYL-COENZYME A THIOESTERASE 4REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3KT9.A | APTX

General Structure Information 3kt9 APTX aprataxin fha domain 1.65Å AUTH O.J.BECHEREL,B.JAKOB,A.L.CHERRY,N.GUEVEN,M.FUSSER,AUTH 2 A.W.KIJAS,C.PENG,S.KATYAL,P.J.MCKINNON,J.CHEN,AUTH 3 B.EPE,S.J.SMERDON,G.TAUCHER-SCHOLZ,M.F.LAVINTITL CK2 PHOSPHORYLATION-DEPENDENT INTERACTION BETWEENTITL 2 APRATAXIN AND MDC1 IN THE DNA DAMAGE RESPONSE.REF NUCLEIC ACIDS RES. V. 38 1489 2010REFN ISSN 0305-1048PMID 20008512DOI 10.1093/NAR/GKP1149 Variant Set Distributions Mapped Variants

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3PKJ.A | SIRT6

General Structure Information 3pkj SIRT6 human sirt6 crystal structure in complex with 2-n-acetyl adp ribose 2.12Å AUTH P.W.PAN,A.DONG,J.MIN,C.ARROWSMITH,A.EDWARDSTITL HUMAN SIRT6 CRYSTAL STRUCTURE IN COMPLEX WITH 2-N-ACETYLTITL 2 ADP RIBOSEREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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3GCW.A | PCSK9

General Structure Information 3gcw PCSK9 pcsk9:egfa(h306y) 2.7Å AUTH M.C.MCNUTT,H.J.KWON,C.CHEN,J.R.CHEN,J.D.HORTON,T.A.LAGACETITL ANTAGONISM OF SECRETED PCSK9 INCREASES LOW DENSITYTITL 2 LIPOPROTEIN RECEPTOR EXPRESSION IN HEPG2 CELLS.REF J.BIOL.CHEM. V. 284 10561 2009REFN ISSN 0021-9258PMID 19224862DOI 10.1074/JBC.M808802200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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4DA1.A | PPM1K

General Structure Information 4da1 PPM1K crystal structure of branched-chain alpha-ketoacid dehydrogenase phosphatase with mg (ii) ions at the active site 2.38Å AUTH R.M.WYNN,J.LI,C.A.BRAUTIGAM,J.L.CHUANG,D.T.CHUANGTITL STRUCTURAL AND BIOCHEMICAL CHARACTERIZATION OF HUMANTITL 2 MITOCHONDRIAL BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASETITL 3 PHOSPHATASE.REF J.BIOL.CHEM. V. 287 9178 2012REFN ISSN 0021-9258PMID 22291014DOI 10.1074/JBC.M111.314963 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

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