3I2B.I | PTS

General Structure Information 3i2b PTS the crystal structure of human 6 pyruvoyl tetrahydrobiopterin synthase 2.3Å AUTH E.UGOCHUKWU,R.COCKING,E.PILKA,W.W.YUE,J.E.BRAY,A.CHAIKUAD,AUTH 2 T.KROJER,J.MUNIZ,U.OPPERMANNTITL THE CRYSTAL STRUCTURE OF HUMAN 6 PYRUVOYLTITL 2 TETRAHYDROBIOPTERIN SYNTHASEREF TO BE PUBLISHEDREFN Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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1LJM.A | RUNX1

General Structure Information 1ljm RUNX1 dna recognition is mediated by conformational transition and by dna bending 2.5Å AUTH D.BARTFELD,L.SHIMON,G.COUTURE,D.RABINOVICH,AUTH 2 F.FROLOW,D.LEVANON,Y.GRONER,Z.SHAKKEDTITL DNA RECOGNITION BY THE RUNX1 TRANSCRIPTION FACTORTITL 2 IS MEDIATED BY AN ALLOSTERIC TRANSITION IN THETITL 3 RUNT DOMAIN AND BY DNA BENDING.REF STRUCTURE V. 10 1395REFN ISSN 0969-2126PMID 12377125DOI 10.1016/S0969-2126(02)00853-5 Variant Set Distributions […]

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3JUI.A | EIF2B5

General Structure Information 3jui EIF2B5 crystal structure of the c-terminal domain of human translation initiation factor eif2b epsilon subunit 2.0Å AUTH J.WEI,H.XU,C.ZHANG,M.WANG,F.GAO,W.GONGTITL CRYSTAL STRUCTURE OF THE C-TERMINAL DOMAIN OF HUMANTITL 2 TRANSLATION INITIATION FACTOR EIF2B EPSILON SUBUNITREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2NN6.A | EXOSC9

General Structure Information 2nn6 EXOSC9 structure of the human rna exosome composed of rrp41, rrp45, rrp46, rrp43, mtr3, rrp42, csl4, rrp4, and rrp40 3.35Å AUTH Q.LIU,J.C.GREIMANN,C.D.LIMATITL RECONSTITUTION, ACTIVITIES, AND STRUCTURE OF THETITL 2 EUKARYOTIC RNA EXOSOME.REF CELL(CAMBRIDGE,MASS.) V. 127 1223 2006REFN ISSN 0092-8674PMID 17174896DOI 10.1016/J.CELL.2006.10.037 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

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1ZDT.B | NR5A1

General Structure Information 1zdt NR5A1 the crystal structure of human steroidogenic factor-1 2.1Å AUTH W.WANG,C.ZHANG,A.MARIMUTHU,H.I.KRUPKA,M.TABRIZIZAD,AUTH 2 R.SHELLOE,U.MEHRA,K.ENG,H.NGUYEN,C.SETTACHATGUL,B.POWELL,AUTH 3 M.V.MILBURN,B.L.WESTTITL THE CRYSTAL STRUCTURES OF HUMAN STEROIDOGENIC FACTOR-1 ANDTITL 2 LIVER RECEPTOR HOMOLOGUE-1REF PROC.NATL.ACAD.SCI.USA V. 102 7505 2005REFN ISSN 0027-8424PMID 15897460DOI 10.1073/PNAS.0409482102 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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2OO4.A | NOTCH2

General Structure Information 2oo4 NOTCH2 structure of lnr-hd (negative regulatory region) from human notch 2 2.0Å AUTH W.R.GORDON,D.VARDAR-ULU,G.HISTEN,C.SANCHEZ-IRIZARRY,AUTH 2 J.C.ASTER,S.C.BLACKLOWTITL STRUCTURAL BASIS FOR AUTOINHIBITION OF NOTCHREF NAT.STRUCT.MOL.BIOL. V. 14 295 2007REFN ISSN 1545-9993PMID 17401372DOI 10.1038/NSMB1227 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3UVJ.C | GUCY1A3

General Structure Information 3uvj GUCY1A3 crystal structure of the catalytic domain of the heterodimeric human soluble guanylate cyclase 1. 2.08Å AUTH C.K.ALLERSTON,F.VON DELFT,O.GILEADITITL CRYSTAL STRUCTURES OF THE CATALYTIC DOMAIN OF HUMAN SOLUBLETITL 2 GUANYLATE CYCLASE.REF PLOS ONE V. 8 57644 2013REFN ESSN 1932-6203PMID 23505436DOI 10.1371/JOURNAL.PONE.0057644 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

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2K27.A | PAX8

General Structure Information 2k27 PAX8 solution structure of human pax8 paired box domain -1.0Å AUTH L.CODUTTI,H.VAN INGEN,C.VASCOTTO,F.FOGOLARI,AUTH 2 A.CORAZZA,G.TELL,F.QUADRIFOGLIO,P.VIGLINO,AUTH 3 R.BOELENS,G.ESPOSITOTITL THE SOLUTION STRUCTURE OF DNA-FREE PAX-8 PAIRED BOXTITL 2 DOMAIN ACCOUNTS FOR REDOX REGULATION OFTITL 3 TRANSCRIPTIONAL ACTIVITY IN THE PAX PROTEIN FAMILY.REF J.BIOL.CHEM. V. 283 33321 2008REFN ISSN 0021-9258PMID 18829450DOI 10.1074/JBC.M805717200 Variant Set […]

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4GTU.B | GSTM4

General Structure Information 4gtu GSTM4 ligand-free homodimeric human glutathione s-transferase m4-4 3.3Å AUTH Y.V.PATSKOVSKY,L.N.PATSKOVSKA,I.LISTOWSKYTITL AN ASPARAGINE-PHENYLALANINE SUBSTITUTION ACCOUNTS FORTITL 2 CATALYTIC DIFFERENCES BETWEEN HGSTM3-3 AND OTHER HUMAN CLASSTITL 3 MU GLUTATHIONE S-TRANSFERASES.REF BIOCHEMISTRY V. 38 16187 1999REFN ISSN 0006-2960PMID 10587441DOI 10.1021/BI991714T Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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3QX3.A | TOP2B

General Structure Information 3qx3 TOP2B human topoisomerase iibeta in complex with dna and etoposide 2.16Å AUTH C.C.WU,T.K.LI,L.FARH,L.Y.LIN,T.S.LIN,Y.J.YU,T.J.YEN,AUTH 2 C.W.CHIANG,N.L.CHANTITL STRUCTURAL BASIS OF TYPE II TOPOISOMERASE INHIBITION BY THETITL 2 ANTICANCER DRUG ETOPOSIDEREF SCIENCE V. 333 459 2011REFN ISSN 0036-8075PMID 21778401DOI 10.1126/SCIENCE.1204117 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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