2E45.A | APBB1

General Structure Information 2e45 APBB1 solution structure of fe65 ww domain -1.0Å AUTH T.KOUNO,M.MIZUGUCHI,Y.NOZAWA,T.SUGAYA,K.KAWANOTITL SOLUTION STRUCTURE OF FE65 WW DOMAINREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1YOK.A | NR5A2

General Structure Information 1yok NR5A2 crystal structure of human lrh-1 bound with tif-2 peptide and phosphatidylglycerol 2.5Å AUTH I.N.KRYLOVA,E.P.SABLIN,J.MOORE,R.X.XU,G.M.WAITT,AUTH 2 J.A.MACKAY,D.JUZUMIENE,J.M.BYNUM,K.MADAUSS,AUTH 3 V.MONTANA,L.LEBEDEVA,M.SUZAWA,J.D.WILLIAMS,AUTH 4 S.P.WILLIAMS,R.K.GUY,J.W.THORNTON,R.J.FLETTERICK,AUTH 5 T.M.WILLSON,H.A.INGRAHAMTITL STRUCTURAL ANALYSES REVEAL PHOSPHATIDYL INOSITOLSTITL 2 AS LIGANDS FOR THE NR5 ORPHAN RECEPTORS SF-1 ANDTITL 3 LRH-1.REF CELL(CAMBRIDGE,MASS.) V. 120 343 2005REFN ISSN 0092-8674PMID 15707893DOI 10.1016/J.CELL.2005.01.024 Variant Set […]

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2W2I.C | KDM4E

General Structure Information 2w2i KDM4E crystal structure of the human 2-oxoglutarate oxygenase loc390245 2.1Å AUTH L.HILLRINGHAUS,W.W.YUE,N.R.ROSE,S.S.NG,C.GILEADI,C.LOENARZ,AUTH 2 S.H.BELLO,J.E.BRAY,C.J.SCHOFIELD,U.OPPERMANNTITL STRUCTURAL AND EVOLUTIONARY BASIS FOR THE DUAL SUBSTRATETITL 2 SELECTIVITY OF HUMAN KDM4 HISTONE DEMETHYLASE FAMILY.REF J.BIOL.CHEM. V. 286 41616 2011REFN ISSN 0021-9258PMID 21914792DOI 10.1074/JBC.M111.283689 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]

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1NUN.A | FGF10

General Structure Information 1nun FGF10 crystal structure analysis of the fgf10-fgfr2b complex 2.9Å AUTH B.K.YEH,M.IGARASHI,A.V.ELISEENKOVA,A.N.PLOTNIKOV,AUTH 2 I.SHER,D.RON,S.A.AARONSON,M.MOHAMMADITITL STRUCTURAL BASIS BY WHICH ALTERNATIVE SPLICINGTITL 2 CONFERS SPECIFICITY IN FIBROBLAST GROWTH FACTORTITL 3 RECEPTORS.REF PROC.NATL.ACAD.SCI.USA V. 100 2266 2003REFN ISSN 0027-8424PMID 12591959DOI 10.1073/PNAS.0436500100 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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2WIM.A | NCAM2

General Structure Information 2wim NCAM2 crystal structure of ncam2 ig1-3 3.0Å AUTH N.KULAHIN,O.KRISTENSEN,K.K.RASMUSSEN,L.OLSEN,P.RYDBERG,AUTH 2 B.VESTERGAARD,J.S.KASTRUP,V.BEREZIN,E.BOCK,P.S.WALMOD,AUTH 3 M.GAJHEDETITL STRUCTURAL MODEL AND TRANS-INTERACTION OF THE ENTIRETITL 2 ECTODOMAIN OF THE OLFACTORY CELL ADHESION MOLECULE.REF STRUCTURE V. 19 203 2011REFN ISSN 0969-2126PMID 21300289DOI 10.1016/J.STR.2010.12.014 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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3RN5.A | AIM2

General Structure Information 3rn5 AIM2 structural basis of cytosolic dna recognition by innate immune receptors 2.5Å AUTH T.JIN,A.PERRY,J.JIANG,P.SMITH,J.A.CURRY,L.UNTERHOLZNER,AUTH 2 Z.JIANG,G.HORVATH,V.A.RATHINAM,R.W.JOHNSTONE,V.HORNUNG,AUTH 3 E.LATZ,A.G.BOWIE,K.A.FITZGERALD,T.S.XIAOTITL STRUCTURES OF THE HIN DOMAIN:DNA COMPLEXES REVEAL LIGANDTITL 2 BINDING AND ACTIVATION MECHANISMS OF THE AIM2 INFLAMMASOMETITL 3 AND IFI16 RECEPTOR.REF IMMUNITY V. 36 561 2012REFN ISSN 1074-7613PMID 22483801DOI 10.1016/J.IMMUNI.2012.02.014 Variant Set Distributions […]

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2JLL.A | NCAM2

General Structure Information 2jll NCAM2 crystal structure of ncam2 igiv-fn3ii 2.3Å AUTH N.KULAHIN,O.KRISTENSEN,K.K.RASMUSSEN,L.OLSEN,P.RYDBERG,AUTH 2 B.VESTERGAARD,J.S.KASTRUP,V.BEREZIN,E.BOCK,P.S.WALMOD,AUTH 3 M.GAJHEDETITL STRUCTURAL MODEL AND TRANS-INTERACTION OF THE ENTIRETITL 2 ECTODOMAIN OF THE OLFACTORY CELL ADHESION MOLECULE.REF STRUCTURE V. 19 203 2011REFN ISSN 0969-2126PMID 21300289DOI 10.1016/J.STR.2010.12.014 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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2XIK.A | STK25

General Structure Information 2xik STK25 structure of human ysk1 (yeast sps1-ste20-related kinase 1) 1.97Å AUTH J.R.C.MUNIZ,P.RELLOS,M.VOLLMAR,C.ALLERSTON,A.CHAIKUAD,AUTH 2 P.SAVITSKY,G.BERRIDGE,B.BRENNER,J.M.ELKINS,N.DAGA,O.GILEADI,AUTH 3 P.MAHAJAN,B.SHRESTHA,F.VON DELFT,C.H.ARROWSMITH,A.M.EDWARDS,AUTH 4 J.WEIGELT,C.BOUNTRA,S.KNAPPTITL STRUCTURE OF HUMAN YSK1 (YEAST SPS1-STE20-RELATED KINASE 1)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1EKP.B | BCAT2

General Structure Information 1ekp BCAT2 crystal structure of human branched chain amino acid aminotransferase (mitochondrial) complexed with pyridoxal-5-phosphate at 2.5 angstroms (monoclinic form). 2.5Å AUTH N.YENNAWAR,J.DUNBAR,M.CONWAY,S.HUTSON,G.FARBERTITL THE STRUCTURE OF HUMAN MITOCHONDRIAL BRANCHED-CHAINTITL 2 AMINOTRANSFERASE.REF ACTA CRYSTALLOGR.,SECT.D V. 57 506 2001REFN ISSN 0907-4449PMID 11264579DOI 10.1107/S0907444901001925 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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2XRI.A | ERI3

General Structure Information 2xri ERI3 crystal structure of human eri1 exoribonuclease 3 2.15Å AUTH M.WELIN,M.I.SIPONEN,C.H.ARROWSMITH,H.BERGLUND,C.BOUNTRA,AUTH 2 R.COLLINS,A.M.EDWARDS,S.FLODIN,A.FLORES,S.GRASLUND,AUTH 3 M.HAMMARSTROM,I.JOHANSSON,T.KARLBERG,S.KOL,T.KOTENYOVA,AUTH 4 E.KOUZNETSOVA,M.MOCHE,T.NYMAN,C.PERSSON,H.SCHULER,P.SCHUTZ,AUTH 5 A.G.THORSELL,L.TRESAUGUES,S.VAN DER BERG,E.WAHLBERG,AUTH 6 J.WEIGELT,P.NORDLUNDTITL CRYSTAL STRUCTURE OF HUMAN ERI1 EXORIBONUCLEASE 3REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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