3Q91.D | NUDT14

General Structure Information 3q91 NUDT14 crystal structure of human uridine diphosphate glucose pyrophosphatase (nudt14) 2.7Å AUTH L.TRESAUGUES,M.I.SIPONEN,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 C.BOUNTRA,R.COLLINS,A.M.EDWARDS,T.EKBLAD,S.FLODIN,A.FLORES,AUTH 3 S.GRASLUND,M.HAMMARSTROM,I.JOHANSSON,T.KARLBERG,S.KOL,AUTH 4 T.KOTENYOVA,E.KOUZNETSOVA,M.MOCHE,T.NYMAN,C.PERSSON,AUTH 5 H.SCHULER,P.SCHUTZ,A.G.THORSELL,S.VAN DER BERG,E.WAHLBERG,AUTH 6 J.WEIGELT,M.WELIN,P.NORDLUNDTITL CRYSTAL STRUCTURE OF HUMAN URIDINE DIPHOSPHATE GLUCOSETITL 2 PYROPHOSPHATASE (NUDT14)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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2NZ2.A | ASS1

General Structure Information 2nz2 ASS1 crystal structure of human argininosuccinate synthase in complex with aspartate and citrulline 2.4Å AUTH T.KARLBERG,R.COLLINS,S.VAN DEN BERG,A.FLORES,M.HAMMARSTROM,AUTH 2 M.HOGBOM,L.HOLMBERG SCHIAVONE,J.UPPENBERGTITL STRUCTURE OF HUMAN ARGININOSUCCINATE SYNTHETASE.REF ACTA CRYSTALLOGR.,SECT.D V. 64 279 2008REFN ISSN 0907-4449PMID 18323623DOI 10.1107/S0907444907067455 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4L1M.A | HERC2

General Structure Information 4l1m HERC2 structure of the first rcc1-like domain of herc2 2.6Å AUTH W.TEMPEL,M.B.KHAN,A.DONG,J.HU,Y.LI,C.BOUNTRA,C.H.ARROWSMITH,AUTH 2 A.M.EDWARDS,Y.TONGTITL STRUCTURE OF THE FIRST RCC1-LIKE DOMAIN OF HERC2REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3RCW.E | BRD1

General Structure Information 3rcw BRD1 crystal structure of the bromodomain of human brd1 2.21Å AUTH P.FILIPPAKOPOULOS,S.PICAUD,M.MANGOS,T.KEATES,J.P.LAMBERT,AUTH 2 D.BARSYTE-LOVEJOY,I.FELLETAR,R.VOLKMER,S.MULLER,T.PAWSON,AUTH 3 A.C.GINGRAS,C.H.ARROWSMITH,S.KNAPPTITL HISTONE RECOGNITION AND LARGE-SCALE STRUCTURAL ANALYSIS OFTITL 2 THE HUMAN BROMODOMAIN FAMILY.REF CELL(CAMBRIDGE,MASS.) V. 149 214 2012REFN ISSN 0092-8674PMID 22464331DOI 10.1016/J.CELL.2012.02.013 Variant Set Distributions Mapped Variants

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2WEF.A | BPNT1

General Structure Information 2wef BPNT1 human 3(2), 5-bisphosphate nucleotidase 1 (bpnt1) in complex with amp, po4 and magnesium 1.8Å AUTH M.MOCHE,P.SCHUTZ,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 M.E.NILSSON,T.NYMAN,C.PERSSON,J.SAGEMARK,AUTH 6 H.SCHUELER,M.I.SIPONEN,A.G.THORSELL,L.TRESAUGUES,AUTH 7 S.VAN DEN BERG,J.WEIGELT,M.WELIN,M.WISNIEWSKA,AUTH 8 P.NORDLUNDTITL HUMAN 3(2), 5-BISPHOSPHATE NUCLEOTIDASE 1 (TITL 2 BPNT1) IN COMPLEX WITH AMP, PO4 AND MAGNESIUMREF TO BE PUBLISHEDREFN […]

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3NA0.B | CYP11A1

General Structure Information 3na0 CYP11A1 crystal structure of human cyp11a1 in complex with 20,22- dihydroxycholesterol 2.5Å AUTH N.STRUSHKEVICH,F.MACKENZIE,T.CHERKESOVA,I.GRABOVEC,S.USANOV,AUTH 2 H.W.PARKTITL STRUCTURAL BASIS FOR PREGNENOLONE BIOSYNTHESIS BY THETITL 2 MITOCHONDRIAL MONOOXYGENASE SYSTEM.REF PROC.NATL.ACAD.SCI.USA V. 108 10139 2011REFN ISSN 0027-8424PMID 21636783DOI 10.1073/PNAS.1019441108 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3IAR.A | ADA

General Structure Information 3iar ADA the crystal structure of human adenosine deaminase 1.52Å AUTH E.UGOCHUKWU,Y.ZHANG,E.HAPKA,W.W.YUE,J.E.BRAY,J.MUNIZ,AUTH 2 N.BURGESS-BROWN,A.CHAIKUAD,K.L.KAVANAGH,U.OPPERMANNTITL THE CRYSTAL STRUCTURE OF HUMAN ADENOSINE DEAMINASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3LYI.A | BRD1

General Structure Information 3lyi BRD1 pwwp domain of human bromodomain-containing protein 1 2.1Å AUTH H.WU,H.ZENG,R.LAM,W.TEMPEL,M.F.AMAYA,C.XU,L.DOMBROVSKI,AUTH 2 W.QIU,Y.WANG,J.MINTITL STRUCTURAL AND HISTONE BINDING ABILITY CHARACTERIZATIONS OFTITL 2 HUMAN PWWP DOMAINS.REF PLOS ONE V. 6 18919 2011REFN ESSN 1932-6203PMID 21720545DOI 10.1371/JOURNAL.PONE.0018919 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3CON.A | NRAS

General Structure Information 3con NRAS crystal structure of the human nras gtpase bound with gdp 1.65Å AUTH L.NEDYALKOVA,Y.TONG,W.TEMPEL,L.SHEN,P.LOPPNAU,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,J.WEIGELT,AUTH 3 A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF THE HUMAN NRAS GTPASE BOUNDTITL 2 WITH GDP.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2Q80.E | GGPS1

General Structure Information 2q80 GGPS1 crystal structure of human geranylgeranyl pyrophosphate synthase bound to ggpp 2.7Å AUTH K.L.KAVANAGH,J.E.DUNFORD,G.BUNKOCZI,R.G.RUSSELL,U.OPPERMANNTITL THE CRYSTAL STRUCTURE OF HUMAN GERANYLGERANYL PYROPHOSPHATETITL 2 SYNTHASE REVEALS A NOVEL HEXAMERIC ARRANGEMENT ANDTITL 3 INHIBITORY PRODUCT BINDINGREF J.BIOL.CHEM. V. 281 22004 2006REFN ISSN 0021-9258PMID 16698791DOI 10.1074/JBC.M602603200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]

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