4DB1.A | MYH7

General Structure Information 4db1 MYH7 cardiac human myosin s1dc, beta isoform complexed with mn-amppnp 2.6Å AUTH V.A.KLENCHIN,J.C.DEACON,A.C.COMBS,L.A.LEINWAND,I.RAYMENTTITL CARDIAC HUMAN MYOSIN S1DC, BETA ISOFORM COMPLEXED WITHTITL 2 MN-AMPPNPREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3DYD.A | TAT

General Structure Information 3dyd TAT human tyrosine aminotransferase 2.3Å AUTH T.KARLBERG,M.MOCHE,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,AUTH 4 T.KOTENYOVA,L.LEHTIO,M.E.NILSSON,P.NORDLUND,T.NYMAN,AUTH 5 K.OLESEN,C.PERSSON,J.SAGEMARK,A.G.THORSELL,L.TRESAUGUES,AUTH 6 S.VAN DEN BERG,J.WEIGELT,M.WELIN,M.WIKSTROM,M.WISNIEWSKA,AUTH 7 H.SCHULER,STRUCTURAL GENOMICS CONSORTIUM (SGC)TITL HUMAN TYROSINE AMINOTRANSFERASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3AKM.D | FABP2

General Structure Information 3akm FABP2 x-ray structure of ifabp from human and rat with bound fluorescent fatty acid analogue 1.9Å AUTH A.J.K.LAGUERRE,J.WIELENS,M.W.PARKER,C.J.PORTER,M.J.SCANLONTITL CRYSTAL STRUCTURES OF HUMAN AND RAT INTESTINAL FATTY ACIDTITL 2 BINDING PROTEINS IN COMPLEX WITH 11-(DANSYLAMINO)UNDECANOICTITL 3 ACIDREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]

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1FSU.A | ARSB

General Structure Information 1fsu ARSB 4-sulfatase (human) 2.5Å AUTH C.S.BOND,P.R.CLEMENTS,S.J.ASHBY,C.A.COLLYER,S.J.HARROP,AUTH 2 J.J.HOPWOOD,J.M.GUSSTITL STRUCTURE OF A HUMAN LYSOSOMAL SULFATASE.REF STRUCTURE V. 5 277 1997REFN ISSN 0969-2126PMID 9032078DOI 10.1016/S0969-2126(97)00185-8 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3LPO.A | SI

General Structure Information 3lpo SI crystal structure of the n-terminal domain of sucrase-isomaltase 3.2Å AUTH L.SIM,C.WILLEMSMA,S.MOHAN,H.Y.NAIM,B.M.PINTO,D.R.ROSETITL STRUCTURAL BASIS FOR SUBSTRATE SELECTIVITY IN HUMANTITL 2 MALTASE-GLUCOAMYLASE AND SUCRASE-ISOMALTASE N-TERMINALTITL 3 DOMAINS.REF J.BIOL.CHEM. V. 285 17763 2010REFN ISSN 0021-9258PMID 20356844DOI 10.1074/JBC.M109.078980 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2D0U.B | IDO1

General Structure Information 2d0u IDO1 crystal structure of cyanide bound form of human indoleamine 2,3-dioxygenase 3.4Å AUTH H.SUGIMOTO,S.ODA,T.OTSUKI,T.HINO,T.YOSHIDA,Y.SHIROTITL CRYSTAL STRUCTURE OF HUMAN INDOLEAMINETITL 2 2,3-DIOXYGENASE: CATALYTIC MECHANISM OF O2TITL 3 INCORPORATION BY A HEME-CONTAINING DIOXYGENASE.REF PROC.NATL.ACAD.SCI.USA V. 103 2611 2006REFN ISSN 0027-8424PMID 16477023DOI 10.1073/PNAS.0508996103 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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2H32.A | VPREB1

General Structure Information 2h32 VPREB1 crystal structure of the pre-b cell receptor 2.7Å AUTH A.J.BANKOVICH,S.RAUNSER,Z.S.JUO,T.WALZ,M.M.DAVIS,K.C.GARCIATITL STRUCTURAL INSIGHT INTO PRE-B CELL RECEPTOR FUNCTIONREF SCIENCE V. 316 291 2007REFN ISSN 0036-8075PMID 17431183DOI 10.1126/SCIENCE.1139412 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3II0.C | GOT1

General Structure Information 3ii0 GOT1 crystal structure of human glutamate oxaloacetate transaminase 1 (got1) 2.05Å AUTH E.UGOCHUKWU,E.PILKA,C.COOPER,J.E.BRAY,W.W.YUE,J.MUNIZ,AUTH 2 A.CHAIKUAD,K.L.KAVANAGH,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN GLUTAMATE OXALOACETATETITL 2 TRANSAMINASE 1 (GOT1)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4FBN.A | PLCG1

General Structure Information 4fbn PLCG1 insights into structural integration of the plcgamma regulatory region and mechanism of autoinhibition and activation based on key roles of sh2 domains 2.4Å AUTH T.D.BUNNEY,D.ESPOSITO,C.MAS-DROUX,E.LAMBER,R.W.BAXENDALE,AUTH 2 M.MARTINS,A.COLE,D.SVERGUN,P.C.DRISCOLL,M.KATANTITL STRUCTURAL AND FUNCTIONAL INTEGRATION OF THE PLCGAMMATITL 2 INTERACTION DOMAINS CRITICAL FOR REGULATORY MECHANISMS ANDTITL 3 SIGNALING DEREGULATION.REF STRUCTURE V. 20 2062 2012REFN […]

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4J15.A | DARS

General Structure Information 4j15 DARS crystal structure of human cytosolic aspartyl-trna synthetase, a component of multi-trna synthetase complex 2.24Å AUTH K.R.KIM,S.H.PARK,H.S.KIM,K.H.RHEE,B.-G.KIM,D.G.KIM,M.S.PARK,AUTH 2 H.-J.KIM,S.KIM,B.W.HANTITL CRYSTAL STRUCTURE OF HUMAN CYTOSOLIC ASPARTYL-TRNATITL 2 SYNTHETASE, A COMPONENT OF MULTI-TRNA SYNTHETASE COMPLEXREF PROTEINS V. 81 1840 2013REFN ISSN 0887-3585PMID 23609930DOI 10.1002/PROT.24306 Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]

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