2JC2.D | SRI

General Structure Information 2jc2 SRI the crystal structure of the natural f112l human sorcin mutant 2.5Å AUTH S.FRANCESCHINI,A.ILARI,D.VERZILI,C.ZAMPARELLI,AUTH 2 A.ANTARAMIAN,A.RUEDA,H.H.VALDIVIA,E.CHIANCONE,AUTH 3 G.COLOTTITITL MOLECULAR BASIS FOR THE IMPAIRED FUNCTION OF THETITL 2 NATURAL F112L SORCIN MUTANT: X-RAY CRYSTALTITL 3 STRUCTURE, CALCIUM AFFINITY, AND INTERACTION WITHTITL 4 ANNEXIN VII AND THE RYANODINE RECEPTOR.REF FASEB J. V. 22 […]

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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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1B98.M | NTF4

General Structure Information 1b98 NTF4 neurotrophin 4 (homodimer) 2.75Å AUTH R.C.ROBINSON,C.RADZIEJEWSKI,G.SPRAGGON,J.GREENWALD,AUTH 2 M.R.KOSTURA,L.D.BURTNICK,D.I.STUART,S.CHOE,AUTH 3 E.Y.JONESTITL THE STRUCTURES OF THE NEUROTROPHIN 4 HOMODIMER ANDTITL 2 THE BRAIN-DERIVED NEUROTROPHIC FACTOR/NEUROTROPHINTITL 3 4 HETERODIMER REVEAL A COMMON TRK-BINDING SITE.REF PROTEIN SCI. V. 8 2589 1999REFN ISSN 0961-8368PMID 10631974 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

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1F05.A | TALDO1

General Structure Information 1f05 TALDO1 crystal structure of human transaldolase 2.45Å AUTH S.THORELL,P.GERGELY JR.,K.BANKI,A.PERL,G.SCHNEIDERTITL THE THREE-DIMENSIONAL STRUCTURE OF HUMANTITL 2 TRANSALDOLASE.REF FEBS LETT. V. 475 205 2000REFN ISSN 0014-5793PMID 10869557DOI 10.1016/S0014-5793(00)01658-6 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons 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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4JSP.B | MTOR

General Structure Information 4jsp MTOR structure of mtordeltan-mlst8-atpgammas-mg complex 3.3Å AUTH H.YANG,D.G.RUDGE,J.D.KOOS,B.VAIDIALINGAM,H.J.YANG,AUTH 2 N.P.PAVLETICHTITL MTOR KINASE STRUCTURE, MECHANISM AND REGULATION.REF NATURE V. 497 217 2013REFN ISSN 0028-0836PMID 23636326DOI 10.1038/NATURE12122 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons 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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1SG4.A | ECI1

General Structure Information 1sg4 ECI1 crystal structure of human mitochondrial delta3-delta2- enoyl-coa isomerase 1.3Å AUTH S.T.PARTANEN,D.K.NOVIKOV,A.N.POPOV,A.M.MURSULA,AUTH 2 J.K.HILTUNEN,R.K.WIERENGATITL THE 1.3 A CRYSTAL STRUCTURE OF HUMAN MITOCHONDRIALTITL 2 DELTA3-DELTA2-ENOYL-COA ISOMERASE SHOWS A NOVELTITL 3 MODE OF BINDING FOR THE FATTY ACYL GROUP.REF J.MOL.BIOL. V. 342 1197 2004REFN ISSN 0022-2836PMID 15351645DOI 10.1016/J.JMB.2004.07.039 Variant Set Distributions Mapped Variants

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4EIH.A | ABL2

General Structure Information 4eih ABL2 crystal structure of arg sh2 domain 1.2Å AUTH S.M.GIFFORD,W.LIU,C.C.MADER,T.L.HALO,K.MACHIDA,T.J.BOGGON,AUTH 2 A.J.KOLESKETITL TWO AMINO ACID RESIDUES CONFER DIFFERENT BINDING AFFINITIESTITL 2 OF ABELSON FAMILY KINASE SRC HOMOLOGY 2 DOMAINS FORTITL 3 PHOSPHORYLATED CORTACTIN.REF J.BIOL.CHEM. V. 289 19704 2014REFN ISSN 0021-9258PMID 24891505DOI 10.1074/JBC.M114.556480 Variant Set Distributions Mapped Variants

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