4BC5.B | XYLB

General Structure Information 4bc5 XYLB crystal structure of human d-xylulokinase in complex with inhibitor 5-deoxy-5-fluoro-d-xylulose 1.98Å AUTH R.D.BUNKER,E.M.M.BULLOCH,J.M.J.DICKSON,K.M.LOOMES,E.N.BAKERTITL STRUCTURE AND FUNCTION OF HUMAN XYLULOKINASE, AN ENZYMETITL 2 WITH IMPORTANT ROLES IN CARBOHYDRATE METABOLISMREF J.BIOL.CHEM. V. 288 1643 2013REFN ISSN 0021-9258PMID 23179721DOI 10.1074/JBC.M112.427997 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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3AP1.B | TPST2

General Structure Information 3ap1 TPST2 crystal structure of human tyrosylprotein sulfotransferase-2 complexed with pap and c4 peptide 1.9Å AUTH T.TERAMOTO,Y.FUJIKAWA,Y.KAWAGUCHI,K.KUROGI,M.SOEJIMA,AUTH 2 R.ADACHI,Y.NAKANISHI,E.MISHIRO-SATO,M.C.LIU,Y.SAKAKIBARA,AUTH 3 M.SUIKO,M.KIMURA,Y.KAKUTATITL CRYSTAL STRUCTURE OF HUMAN TYROSYLPROTEIN SULFOTRANSFERASE-2TITL 2 REVEALS THE MECHANISM OF PROTEIN TYROSINE SULFATIONTITL 3 REACTION.REF NAT COMMUN V. 4 1572 2013REFN ESSN 2041-1723PMID 23481380DOI 10.1038/NCOMMS2593 Variant Set Distributions Ripley’s K […]

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2PXX.A | ECE2

General Structure Information 2pxx ECE2 human putative methyltransferase mgc2408 1.3Å AUTH W.TEMPEL,H.WU,L.DOMBROVSKY,H.ZENG,P.LOPPNAU,H.ZHU,AUTH 2 A.N.PLOTNIKOV,A.BOCHKAREVTITL AN INTACT SAM-DEPENDENT METHYLTRANSFERASE FOLD ISTITL 2 ENCODED BY THE HUMAN ENDOTHELIN-CONVERTING ENZYME-2TITL 3 GENE.REF PROTEINS V. 74 789 2009REFN ISSN 0887-3585PMID 19089949DOI 10.1002/PROT.22299 Variant Set Distributions Mapped Variants

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3I2V.A | MOCS3

General Structure Information 3i2v MOCS3 crystal structure of human mocs3 rhodanese-like domain 1.25Å AUTH J.P.BACIK,J.R.WALKER,L.LOPEZ,Y.LI,J.WEIGELT,AUTH 2 C.BOUNTRA,C.H.ARROWSMITH,A.M.EDWARDS,A.BOCHKAREV,AUTH 3 S.DHE-PAGANONTITL CRYSTAL STRUCTURE OF THE HUMAN MOCS3 RHODANESE-LIKETITL 2 DOMAINREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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2C46.B | RNGTT

General Structure Information 2c46 RNGTT crystal structure of the human rna guanylyltransferase and 5-phosphatase 1.6Å AUTH J.DEBRECZENI,C.JOHANSSON,E.LONGMAN,O.GILEADI,P.SAVITSKYSMEE,AUTH 2 C.SMEE,G.BUNKOCZI,E.UGOCHUKWU,F.VON DELFT,M.SUNDSTROM,AUTH 3 J.WEIGELT,C.ARROWSMITH,A.EDWARDS,S.KNAPPTITL CRYSTAL STRUCTURE OF THE HUMAN RNA GUANYLYLTRANSFERASE ANDTITL 2 5-PHOSPHATASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1VZO.A | RPS6KA5

General Structure Information 1vzo RPS6KA5 the structure of the n-terminal kinase domain of msk1 reveals a novel autoinhibitory conformation for a dual kinase protein 1.8Å AUTH K.J.SMITH,P.S.CARTER,A.BRIDGES,P.HORROCKS,C.LEWIS,AUTH 2 G.PETTMAN,A.CLARKE,M.BROWN,J.HUGHES,M.WILKINSON,AUTH 3 B.BAX,A.REITHTITL THE STRUCTURE OF MSK1 REVEALS A NOVELTITL 2 AUTOINHIBITORY CONFORMATION FOR A DUAL KINASETITL 3 PROTEINREF STRUCTURE V. 12 1066 2004REFN ISSN 0969-2126PMID 15274926DOI […]

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4BGQ.A | CDKL5

General Structure Information 4bgq CDKL5 crystal structure of the human cdkl5 kinase domain 2.0Å AUTH P.CANNING,T.KROJER,S.GOUBIN,P.MAHAJAN,M.VOLLMAR,A.C.W.PIKE,AUTH 2 F.VON DELFT,C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,A.BULLOCKTITL CRYSTAL STRUCTURE OF THE HUMAN CDKL5 KINASE DOMAINREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2JI4.A | PRPSAP2

General Structure Information 2ji4 PRPSAP2 human phosphoribosylpyrophosphate synthetase – associated protein 41 (pap41) 2.55Å AUTH M.MOCHE,L.LEHTIO,C.ARROWSMITH,H.BERGLUND,R.BUSAM,AUTH 2 R.COLLINS,L.G.DAHLGREN,A.EDWARDS,S.FLODIN,A.FLORES,AUTH 3 S.GRASLUND,M.HAMMARSTROM,B.M.HALLBERG,AUTH 4 L.HOLMBERG-SCHIAVONE,I.JOHANSSON,T.KARLBERG,AUTH 5 T.KOTENYOVA,T.NYMAN,D.OGG,C.PERSSON,J.SAGEMARK,AUTH 6 P.STENMARK,M.SUNDSTROM,A.G.THORSELL,S.VAN DEN BERG,AUTH 7 J.WEIGELT,P.NORDLUNDTITL HUMAN PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE -TITL 2 ASSOCIATED PROTEIN 41 (PAP41)REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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1W1H.C | PDPK1

General Structure Information 1w1h PDPK1 crystal structure of the pdk1 pleckstrin homology (ph) domain 1.45Å AUTH D.KOMANDER,A.FAIRSERVICE,M.DEAK,G.S.KULAR,AUTH 2 A.R.PRESCOTT,C.P.DOWNES,S.T.SAFRANY,D.R.ALESSI,AUTH 3 D.M.F.VAN AALTENTITL STRUCTURAL INSIGHTS INTO THE REGULATION OF PDK1 BYTITL 2 PHOSPHOINOSITIDES AND INOSITOL PHOSPHATESREF EMBO J. V. 23 3918 2004REFN ISSN 0261-4189PMID 15457207DOI 10.1038/SJ.EMBOJ.7600379 Variant Set Distributions Mapped Variants

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2DNC.A | PDHX

General Structure Information 2dnc PDHX solution structure of rsgi ruh-054, a lipoyl domain from human 2-oxoacid dehydrogenase -1.0Å AUTH A.Z.M.RUHUL MOMEN,H.HIROTA,F.HAYASHI,C.KUROSAKI,AUTH 2 M.YOSHIDA,S.YOKOYAMATITL SOLUTION STRUCTURE OF RSGI RUH-054, A LIPOYLTITL 2 DOMAIN FROM HUMAN 2-OXOACID DEHYDROGENASEREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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