2XRI.A | ERI3

General Structure Information 2xri ERI3 crystal structure of human eri1 exoribonuclease 3 2.15Å AUTH M.WELIN,M.I.SIPONEN,C.H.ARROWSMITH,H.BERGLUND,C.BOUNTRA,AUTH 2 R.COLLINS,A.M.EDWARDS,S.FLODIN,A.FLORES,S.GRASLUND,AUTH 3 M.HAMMARSTROM,I.JOHANSSON,T.KARLBERG,S.KOL,T.KOTENYOVA,AUTH 4 E.KOUZNETSOVA,M.MOCHE,T.NYMAN,C.PERSSON,H.SCHULER,P.SCHUTZ,AUTH 5 A.G.THORSELL,L.TRESAUGUES,S.VAN DER BERG,E.WAHLBERG,AUTH 6 J.WEIGELT,P.NORDLUNDTITL CRYSTAL STRUCTURE OF HUMAN ERI1 EXORIBONUCLEASE 3REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1H3O.C | TAF4

General Structure Information 1h3o TAF4 crystal structure of the human taf4-taf12 (tafii135-tafii20) complex 2.3Å AUTH S.WERTEN,A.MITSCHLER,C.ROMIER,Y.-G.GANGLOFF,AUTH 2 S.THUAULT,I.DAVIDSON,D.MORASTITL CRYSTAL STRUCTURE OF A SUBCOMPLEX OF HUMANTITL 2 TRANSCRIPTION FACTOR TFIID FORMED BY TATA BINDINGTITL 3 PROTEIN-ASSOCIATED FACTORS HTAF4 (HTAF(II)135) ANDTITL 4 HTAF12 (HTAF(II)20).REF J.BIOL.CHEM. V. 277 45502 2002REFN ISSN 0021-9258PMID 12237304DOI 10.1074/JBC.M206587200 Variant Set Distributions Mapped […]

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3COK.A | PLK4

General Structure Information 3cok PLK4 crystal structure of plk4 kinase 2.25Å AUTH S.ATWELL,S.K.BURLEY,A.HOULE,B.LEON,L.A.PELLETIER,AUTH 2 J.M.SAUDERTITL CRYSTAL STRUCTURE OF PLK4 KINASE.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2CSP.A | RIMBP2

General Structure Information 2csp RIMBP2 solution structure of the fniii domain of human rim-binding protein 2 -1.0Å AUTH K.INOUE,F.HAYASHI,S.YOKOYAMATITL SOLUTION STRUCTURE OF THE FNIII DOMAIN OF HUMANTITL 2 RIM-BINDING PROTEIN 2REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3TDC.A | ACACB

General Structure Information 3tdc ACACB crystal structure of human acetyl-coa carboxylase 2 2.41Å AUTH T.YAMASHITA,M.KAMATA,S.ENDO,M.YAMAMOTO,K.KAKEGAWA,AUTH 2 H.WATANABE,K.MIWA,T.YAMANO,M.FUNATA,J.SAKAMOTO,A.TANI,AUTH 3 C.D.MOL,H.ZOU,D.R.DOUGAN,B.SANG,G.SNELL,K.FUKATSUTITL DESIGN, SYNTHESIS, AND STRUCTURE-ACTIVITY RELATIONSHIPS OFTITL 2 SPIROLACTONES BEARING 2-UREIDOBENZOTHIOPHENE AS ACETYL-COATITL 3 CARBOXYLASES INHIBITORS.REF BIOORG.MED.CHEM.LETT. V. 21 6314 2011REFN ISSN 0960-894XPMID 21944854DOI 10.1016/J.BMCL.2011.08.117 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]

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1H6F.A | TBX3

General Structure Information 1h6f TBX3 human tbx3, a transcription factor responsible for ulnar-mammary syndrome , bound to a palindromic dna site 1.7Å AUTH M.COLL,J.G.SEIDMAN,C.W.MULLERTITL STRUCTURE OF THE DNA-BOUND T-BOX DOMAIN OF HUMANTITL 2 TBX3, A TRANSCRIPTION FACTOR RESPONSIBLE FORTITL 3 ULNAR- MAMMARY SYNDROMEREF STRUCTURE V. 10 343 2002REFN ISSN 0969-2126PMID 12005433DOI 10.1016/S0969-2126(02)00722-0 Variant Set Distributions […]

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2G76.B | PHGDH

General Structure Information 2g76 PHGDH crystal structure of human 3-phosphoglycerate dehydrogenase 1.7Å AUTH A.P.TURNBULL,E.SALAH,P.SAVITSKY,O.GILEADI,F.VON DELFT,AUTH 2 A.EDWARDS,C.ARROWSMITH,J.WEIGELT,M.SUNDSTROM,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN 3-PHOSPHOGLYCERATE DEHYDROGENASEREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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2Z5F.B | SULT1B1

General Structure Information 2z5f SULT1B1 human sulfotransferase sult1b1 in complex with pap 2.1Å AUTH L.DOMBROVSKI,A.DONG,A.BOCHKAREV,A.N.PLOTNIKOVTITL CRYSTAL STRUCTURES OF HUMAN SULFOTRANSFERASESTITL 2 SULT1B1 AND SULT1C1 COMPLEXED WITH THE COFACTORTITL 3 PRODUCT ADENOSINE-3-5-DIPHOSPHATE (PAP)REF PROTEINS V. 64 1091 2006REFN ISSN 0887-3585PMID 16804942DOI 10.1002/PROT.21048 Variant Set Distributions Mapped Variants

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4HN2.A | PPIP5K2

General Structure Information 4hn2 PPIP5K2 crystal structure of the catalytic domain of human diphosphoinositol pentakisphosphate kinase 2 (ppip5k2) in complex with amppnp and a substrate analog 5pa-ip5 1.9Å AUTH A.M.RILEY,H.WANG,J.D.WEAVER,S.B.SHEARS,B.V.POTTERTITL FIRST SYNTHETIC ANALOGUES OF DIPHOSPHOINOSITOLTITL 2 POLYPHOSPHATES: INTERACTION WITH PP-INSP(5) KINASE.REF CHEM.COMMUN.(CAMB.) V. 48 11292 2012REFN ISSN 1359-7345PMID 23032903DOI 10.1039/C2CC36044F Variant Set Distributions Ripley’s K […]

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2A1X.A | PHYH

General Structure Information 2a1x PHYH human phytanoyl-coa 2-hydroxylase in complex with iron and 2- oxoglutarate 2.5Å AUTH M.A.MCDONOUGH,K.L.KAVANAGH,D.BUTLER,T.SEARLES,U.OPPERMANN,AUTH 2 C.J.SCHOFIELDTITL STRUCTURE OF HUMAN PHYTANOYL-COA 2-HYDROXYLASE IDENTIFIESTITL 2 MOLECULAR MECHANISMS OF REFSUM DISEASEREF J.BIOL.CHEM. V. 280 41101 2005REFN ISSN 0021-9258PMID 16186124DOI 10.1074/JBC.M507528200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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