3LY5.A | DDX18

General Structure Information 3ly5 DDX18 ddx18 dead-domain 2.8Å 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 Mapped Variants

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3ZDQ.A | ABCB10

General Structure Information 3zdq ABCB10 structure of the human mitochondrial abc transporter, abcb10 (nucleotide-free form) 2.85Å AUTH C.A.SHINTRE,A.C.W.PIKE,Q.LI,J.KIM,A.J.BARR,S.GOUBIN,AUTH 2 L.SHRESTHA,J.YANG,G.BERRIDGE,J.ROSS,P.J.STANSFELD,AUTH 3 M.S.P.SANSOM,A.M.EDWARDS,C.BOUNTRA,B.D.MARSDEN,F.VON DELFT,AUTH 4 A.N.BULLOCK,O.GILEADI,N.A.BURGESS-BROWN,E.P.CARPENTERTITL STRUCTURES OF ABCB10, A HUMAN ATP-BINDING CASSETTETITL 2 TRANSPORTER IN APO- AND NUCLEOTIDE-BOUND STATESREF PROC.NATL.ACAD.SCI.USA V. 110 9710 2013REFN ISSN 0027-8424PMID 23716676DOI 10.1073/PNAS.1217042110 Variant Set Distributions Ripley’s K Analysis Plots […]

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3Q18.B | GSTO2

General Structure Information 3q18 GSTO2 human glutathione transferase o2 1.7Å AUTH H.ZHOU,J.BROCK,D.LIU,P.G.BOARD,A.J.OAKLEYTITL STRUCTURAL INSIGHTS INTO THE DEHYDROASCORBATE REDUCTASETITL 2 ACTIVITY OF HUMAN OMEGA-CLASS GLUTATHIONE TRANSFERASES.REF J.MOL.BIOL. V. 420 190 2012REFN ISSN 0022-2836PMID 22522127DOI 10.1016/J.JMB.2012.04.014 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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4L1D.B | SCN3B

General Structure Information 4l1d SCN3B voltage-gated sodium channel beta3 subunit ig domain 2.5Å AUTH S.NAMADURAI,D.BALASURIYA,R.RAJAPPA,M.WIEMHOFER,K.STOTT,AUTH 2 J.KLINGAUF,J.M.EDWARDSON,D.Y.CHIRGADZE,A.P.JACKSONTITL CRYSTAL STRUCTURE AND MOLECULAR IMAGING OF THE NAV CHANNELTITL 2 BETA 3 SUBUNIT INDICATES A TRIMERIC ASSEMBLY.REF J.BIOL.CHEM. V. 289 10797 2014REFN ISSN 0021-9258PMID 24567321DOI 10.1074/JBC.M113.527994 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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4CEK.A | UPF2

General Structure Information 4cek UPF2 crystal structure of the second mif4g domain of human nonsense mediated decay factor upf2 2.35Å AUTH M.CLERICI,A.DENIAUD,V.BOEHM,N.H.GEHRING,C.SCHAFFITZEL,AUTH 2 S.CUSACKTITL STRUCTURAL AND FUNCTIONAL ANALYSIS OF THE THREE MIF4GTITL 2 DOMAINS OF NONSENSE-MEDIATED DECAY FACTOR UPF2.REF NUCLEIC ACIDS RES. V. 42 2673 2014REFN ISSN 0305-1048PMID 24271394DOI 10.1093/NAR/GKT1197 Variant Set Distributions Ripley’s K […]

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3CTZ.A | XPNPEP1

General Structure Information 3ctz XPNPEP1 structure of human cytosolic x-prolyl aminopeptidase 1.6Å AUTH X.LI,Z.LOU,X.LI,W.ZHOU,M.MA,Y.CAO,Y.GENG,M.BARTLAM,AUTH 2 X.C.ZHANG,Z.RAOTITL STRUCTURE OF HUMAN CYTOSOLIC X-PROLYL AMINOPEPTIDASE: ATITL 2 DOUBLE MN(II)-DEPENDENT DIMERIC ENZYME WITH A NOVELTITL 3 THREE-DOMAIN SUBUNITREF J.BIOL.CHEM. V. 283 22858 2008REFN ISSN 0021-9258PMID 18515364DOI 10.1074/JBC.M710274200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2DMQ.A | LHX9

General Structure Information 2dmq LHX9 solution structure of the homeobox domain of lim/homeobox protein lhx9 -1.0Å AUTH S.OHNISHI,N.TOCHIO,S.KOSHIBA,M.INOUE,T.KIGAWA,AUTH 2 S.YOKOYAMATITL SOLUTION STRUCTURE OF THE HOMEOBOX DOMAIN OFTITL 2 LIM/HOMEOBOX PROTEIN LHX9REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3ZWF.A | ELAC1

General Structure Information 3zwf ELAC1 crystal structure of human trnase z, short form (elac1). 1.7Å AUTH C.K.ALLERSTON,T.KROJER,G.BERRIDGE,N.BURGESS-BROWN,AUTH 2 A.CHAIKUAD,R.CHALK,J.M.ELKINS,C.GILEADI,S.V.A.LATWIEL,AUTH 3 P.SAVITSKY,M.VOLLMAR,C.H.ARROWSMITH,J.WEIGELT,A.EDWARDS,AUTH 4 C.BOUNTRA,F.VON DELFT,O.GILEADITITL CRYSTAL STRUCTURE OF HUMAN TRNASE Z, SHORT FORM (ELAC1).REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2R3A.A | SUV39H2

General Structure Information 2r3a SUV39H2 methyltransferase domain of human suppressor of variegation 3-9 homolog 2 2.0Å AUTH H.WU,J.MIN,V.V.LUNIN,T.ANTOSHENKO,L.DOMBROVSKI,AUTH 2 H.ZENG,A.ALLALI-HASSANI,V.CAMPAGNA-SLATER,M.VEDADI,AUTH 3 C.H.ARROWSMITH,A.N.PLOTNIKOV,M.SCHAPIRATITL STRUCTURAL BIOLOGY OF HUMAN H3K9 METHYLTRANSFERASESREF PLOS ONE V. 5 E8570 2010REFN ESSN 1932-6203PMID 20084102DOI 10.1371/JOURNAL.PONE.0008570 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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1P9O.A | PPCS

General Structure Information 1p9o PPCS crystal structure of phosphopantothenoylcysteine synthetase 2.3Å AUTH N.MANOJ,E.STRAUSS,T.P.BEGLEY,S.E.EALICKTITL STRUCTURE OF HUMAN PHOSPHOPANTOTHENOYLCYSTEINETITL 2 SYNTHETASE AT 2.3 A RESOLUTION.REF STRUCTURE V. 11 927 2003REFN ISSN 0969-2126PMID 12906824DOI 10.1016/S0969-2126(03)00146-1 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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