2EW9.A | ATP7B

General Structure Information 2ew9 ATP7B solution structure of apowln5-6 -1.0Å AUTH D.ACHILA,L.BANCI,I.BERTINI,J.BUNCE,S.CIOFI-BAFFONI,AUTH 2 D.L.HUFFMANTITL STRUCTURE OF HUMAN WILSON PROTEIN DOMAINS 5 AND 6TITL 2 AND THEIR INTERPLAY WITH DOMAIN 4 AND THE COPPERTITL 3 CHAPERONE HAH1 IN COPPER UPTAKE.REF PROC.NATL.ACAD.SCI.USA V. 103 5729 2006REFN ISSN 0027-8424PMID 16571664DOI 10.1073/PNAS.0504472103 Variant Set Distributions Ripley’s K Analysis Plots […]

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1WZ9.B | SERPINB5

General Structure Information 1wz9 SERPINB5 the 2.1 a structure of a tumour suppressing serpin 2.1Å AUTH R.H.LAW,J.A.IRVING,A.M.BUCKLE,K.RUZYLA,M.BUZZA,AUTH 2 T.A.BASHTANNYK-PUHALOVICH,T.C.BEDDOE,K.NGUYEN,AUTH 3 D.M.WORRALL,S.P.BOTTOMLEY,P.I.BIRD,J.ROSSJOHN,AUTH 4 J.C.WHISSTOCKTITL THE HIGH RESOLUTION CRYSTAL STRUCTURE OF THE HUMANTITL 2 TUMOR SUPPRESSOR MASPIN REVEALS A NOVELTITL 3 CONFORMATIONAL SWITCH IN THE G-HELIX.REF J.BIOL.CHEM. V. 280 22356 2005REFN ISSN 0021-9258PMID 15760906DOI 10.1074/JBC.M412043200 Variant Set […]

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3LMK.A | GRM5

General Structure Information 3lmk GRM5 ligand binding domain of metabotropoc glutamate receptor mglur5 complexed with glutamate 2.44Å AUTH E.DOBROVETSKY,G.KHUTORESKAYA,A.SEITOVA,D.COSSAR,A.M.EDWARDS,AUTH 2 C.H.ARROWSMITH,C.BOUNTRA,J.WEIGELT,A.BOCHKAREVTITL METABOTROPIC GLUTAMATE RECEPTOR MGLUR5 COMPLEXED WITHTITL 2 GLUTAMATEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1OVL.A | NR4A2

General Structure Information 1ovl NR4A2 crystal structure of nurr1 lbd 2.2Å AUTH Z.WANG,G.BENOIT,J.LIU,S.PRASAD,P.AARNISALO,X.LIU,AUTH 2 H.XU,N.WALKER,T.PERLMANNTITL STRUCTURE AND FUNCTION OF NURR1 IDENTIFIES A CLASSTITL 2 OF LIGAND-INDEPENDENT NUCLEAR RECEPTORSREF NATURE V. 423 555 2003REFN ISSN 0028-0836PMID 12774125DOI 10.1038/NATURE01645 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1PKX.D | ATIC

General Structure Information 1pkx ATIC crystal structure of human atic in complex with xmp 1.9Å AUTH D.W.WOLAN,C.G.CHEONG,S.E.GREASLEY,I.A.WILSONTITL STRUCTURAL INSIGHTS INTO THE HUMAN AND AVIAN IMPTITL 2 CYCLOHYDROLASE MECHANISM VIA CRYSTAL STRUCTURESTITL 3 WITH THE BOUND XMP INHIBITOR.REF BIOCHEMISTRY V. 43 1171 2004REFN ISSN 0006-2960PMID 14756553DOI 10.1021/BI030162I Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]

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2W4L.B | DCTD

General Structure Information 2w4l DCTD human dcmp deaminase 2.1Å AUTH M.I.SIPONEN,M.MOCHE,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 C.BOUNTRA,R.COLLINS,L.G.DAHLGREN,A.M.EDWARDS,AUTH 3 S.FLODIN,A.FLORES,S.GRASLUND,M.HAMMARSTROM,AUTH 4 A.JOHANSSON,I.JOHANSSON,T.KARLBERG,T.KOTENYOVA,AUTH 5 L.LEHTIO,M.E.NILSSON,T.NYMAN,C.PERSSON,J.SAGEMARK,AUTH 6 H.SCHULER,A.G.THORSELL,L.TRESAUGUES,S.VAN DEN BERG,AUTH 7 J.WEIGELT,M.WELIN,M.WIKSTROM,M.WISNIEWSKA,AUTH 8 P.NORDLUNDTITL THE CRYSTAL STRUCTURE OF HUMAN DCMP DEAMINASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2JIF.A | ACADSB

General Structure Information 2jif ACADSB structure of human short-branched chain acyl-coa dehydrogenase (acadsb) 2.0Å AUTH A.C.W.PIKE,V.HOZJAN,C.SMEE,F.H.NIESEN,K.L.KAVANAGH,C.UMEANO,AUTH 2 A.P.TURNBULL,F.VON DELFT,J.WEIGELT,A.EDWARDS,C.H.ARROWSMITH,AUTH 3 M.SUNDSTROM,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN SHORT-BRANCHED CHAIN ACYL-COATITL 2 DEHYDROGENASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2P01.A | LRPAP1

General Structure Information 2p01 LRPAP1 the structure of receptor-associated protein(rap) -1.0Å AUTH D.LEE,J.D.WALSH,M.MIGLIORINI,P.YU,T.CAI,AUTH 2 C.D.SCHWIETERS,S.KRUEGER,D.K.STRICKLAND,Y.X.WANGTITL THE STRUCTURE OF RECEPTOR-ASSOCIATED PROTEIN (RAP).REF PROTEIN SCI. V. 16 1628 2007REFN ISSN 0961-8368PMID 17656581DOI 10.1110/PS.072865407 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3ZD1.B | CFHR2

General Structure Information 3zd1 CFHR2 structure of the two c-terminal domains of complement factor h related protein 2 2.0Å AUTH E.GOICOECHEA DE JORGE,J.J.E.CAESAR,T.H.MALIK,M.PATEL,AUTH 2 M.COLLEDGE,S.JOHNSON,S.HAKOBYAN,B.P.MORGAN,C.L.HARRIS,AUTH 3 M.C.PICKERING,S.M.LEATITL DIMERIZATION OF COMPLEMENT FACTOR H-RELATED PROTEINSTITL 2 MODULATES COMPLEMENT ACTIVATION IN VIVO.REF PROC.NATL.ACAD.SCI.USA V. 110 4685 2013REFN ISSN 0027-8424PMID 23487775DOI 10.1073/PNAS.1219260110 Variant Set Distributions Ripley’s K Analysis Plots […]

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3RBN.B | MLH1

General Structure Information 3rbn MLH1 crystal structure of mutl protein homolog 1 isoform 1 [homo sapiens] 2.16Å AUTH L.DOMBROVSKY,A.DONG,A.WERNIMONT,P.LOPPNAU,C.BOUNTRA,AUTH 2 J.WEIGELT,C.H.ARROWSMITH,A.M.EDWARDS,J.MIN,H.WUTITL CRYSTAL STRUCTURE OF MUTL PROTEIN HOMOLOG 1 ISOFORM 1 [HOMOTITL 2 SAPIENS]REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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