2H5G.B | ALDH18A1

General Structure Information 2h5g ALDH18A1 crystal structure of human pyrroline-5-carboxylate synthetase 2.25Å AUTH E.PAPAGRIGORIOU,N.SHAFQAT,A.P.TURNBULL,G.BERRIDGE,V.HOZJAN,AUTH 2 K.KAVANAGH,O.GILEADI,C.SMEE,J.BRAY,F.GORREC,M.SUNDSTROM,AUTH 3 C.ARROWSMITH,J.WEIGELT,A.EDWARDS,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN PYRROLINE-5-CARBOXYLATETITL 2 SYNTHETASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3P0L.A | STAR

General Structure Information 3p0l STAR human steroidogenic acute regulatory protein 3.4Å AUTH A.G.THORSELL,W.H.LEE,C.PERSSON,M.I.SIPONEN,M.NILSSON,AUTH 2 R.D.BUSAM,T.KOTENYOVA,H.SCHULER,L.LEHTIOTITL COMPARATIVE STRUCTURAL ANALYSIS OF LIPID BINDING STARTTITL 2 DOMAINS.REF PLOS ONE V. 6 19521 2011REFN ESSN 1932-6203PMID 21738568DOI 10.1371/JOURNAL.PONE.0019521 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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3C6K.D | SMS

General Structure Information 3c6k SMS crystal structure of human spermine synthase in complex with spermidine and 5-methylthioadenosine 1.95Å AUTH H.WU,J.MIN,H.ZENG,D.E.MCCLOSKEY,Y.IKEGUCHI,AUTH 2 P.LOPPNAU,A.J.MICHAEL,A.E.PEGG,A.N.PLOTNIKOVTITL CRYSTAL STRUCTURE OF HUMAN SPERMINE SYNTHASE:TITL 2 IMPLICATIONS OF SUBSTRATE BINDING AND CATALYTICTITL 3 MECHANISM.REF J.BIOL.CHEM. V. 283 16135 2008REFN ISSN 0021-9258PMID 18367445DOI 10.1074/JBC.M710323200 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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3S95.B | LIMK1

General Structure Information 3s95 LIMK1 crystal structure of the human limk1 kinase domain in complex with staurosporine 1.65Å AUTH A.BELTRAMI,A.CHAIKUAD,N.DAGA,J.M.ELKINS,P.MAHAJAN,AUTH 2 P.SAVITSKY,M.VOLLMAR,T.KROJER,J.R.C.MUNIZ,O.FEDOROV,AUTH 3 C.K.ALLERSTON,W.W.YUE,O.GILEADI,F.VON DELFT,C.H.ARROWSMITH,AUTH 4 A.M.EDWARDS,J.WEIGELT,C.BOUNTRA,S.KNAPP,A.BULLOCKTITL CRYSTAL STRUCTURE OF THE HUMAN LIMK1 KINASE DOMAIN INTITL 2 COMPLEX WITH STAUROSPORINEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]

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3T7O.A | GYG1

General Structure Information 3t7o GYG1 crystal structure of human glycogenin-1 (gyg1) complexed with manganese, udp-glucose and glucose 1.85Å AUTH A.CHAIKUAD,D.S.FROESE,G.BERRIDGE,F.VON DELFT,U.OPPERMANN,AUTH 2 W.W.YUETITL CONFORMATIONAL PLASTICITY OF GLYCOGENIN AND ITSTITL 2 MALTOSACCHARIDE SUBSTRATE DURING GLYCOGEN BIOGENESIS.REF PROC.NATL.ACAD.SCI.USA V. 108 21028 2011REFN ISSN 0027-8424PMID 22160680DOI 10.1073/PNAS.1113921108 Variant Set Distributions Mapped Variants

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2NZT.A | HK2

General Structure Information 2nzt HK2 crystal structure of human hexokinase ii 2.45Å AUTH W.M.RABEH,H.ZHU,L.NEDYALKOVA,W.TEMPEL,G.WASNEY,AUTH 2 R.LANDRY,M.VEDADI,C.H.ARROWSMITH,A.M.EDWARDS,AUTH 3 M.SUNDSTROM,J.WEIGELT,A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF HUMAN HEXOKINASE IIREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3H95.A | NUDT6

General Structure Information 3h95 NUDT6 crystal structure of the nudix domain of nudt6 1.7Å AUTH L.TRESAUGUES,M.MOCHE,C.H.ARROWSMITH,H.BERGLUND,C.BOUNTRA,AUTH 2 R.COLLINS,A.M.EDWARDS,S.FLODIN,A.FLORES,S.GRASLUND,AUTH 3 M.HAMMARSTROM,A.JOHANSSON,I.JOHANSSON,T.KARLBERG,AUTH 4 T.KOTYENOVA,A.KOTZCH,T.K.NIELSEN,T.NYMAN,C.PERSSON,AUTH 5 J.SAGEMARK,H.SCHUELER,P.SCHUTZ,M.I.SIPONEN,L.SVENSSON,AUTH 6 A.G.THORSELL,S.VAN DEN BERG,J.WEIGELT,M.WELIN,M.WISNIEWSKA,AUTH 7 P.NORDLUNDTITL CRYSTAL STRUCTURE OF THE NUDIX DOMAIN OF NUDT6REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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3LWK.A | CRYBA4

General Structure Information 3lwk CRYBA4 crystal structure of human beta-crystallin a4 (cryba4) 1.7Å AUTH A.CHAIKUAD,N.SHAFQAT,T.KROJER,W.W.YUE,R.COCKING,M.VOLLMAR,AUTH 2 J.R.C.MUNIZ,A.C.W.PIKE,F.VON DELFT,C.H.ARROWSMITH,J.WEIGELT,AUTH 3 A.M.EDWARDS,C.BOUNTRA,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN BETA-CRYSTALLIN A4 (CRYBA4)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3GRO.A | PPT1

General Structure Information 3gro PPT1 human palmitoyl-protein thioesterase 1 2.53Å AUTH E.DOBROVETSKY,A.SEITOVA,Y.TONG,W.TEMPEL,A.DONG,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,J.WEIGELT,AUTH 3 A.BOCHKAREV,D.COSSAR,H.PARKTITL HUMAN PALMITOYL-PROTEIN THIOESTERASE 1REF TO BE PUBLISHEDREFN Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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3FXT.F | NUDT6

General Structure Information 3fxt NUDT6 crystal structure of the n-terminal domain of human nudt6 2.3Å AUTH L.TRESAUGUES,M.WELIN,C.H.ARROWSMITH,H.BERGLUND,C.BOUNTRA,AUTH 2 R.COLLINS,L.G.DAHLGREN,A.M.EDWARDS,S.FLODIN,A.FLORES,AUTH 3 S.GRASLUND,M.HAMMARSTROM,A.JOHANSSON,I.JOHANSSON,T.KARLBERG,AUTH 4 T.KOTENYOVA,L.LEHTIO,M.MOCHE,M.E.NILSSON,T.NYMAN,C.PERSSON,AUTH 5 J.SAGEMARK,H.SCHUELER,M.I.SIPONEN,A.G.THORSELL,AUTH 6 S.VAN DEN BERG,J.WEIGELT,M.WIKSTROM,M.WISNIEWSKA,P.NORDLUNDTITL CRYSTAL STRUCTURE OF THE N-TERMINAL DOMAIN OF HUMAN NUDT6REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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