3ETO.B | NOTCH1

General Structure Information 3eto NOTCH1 2 angstrom xray structure of the notch1 negative regulatory region (nrr) 2.0Å AUTH W.R.GORDON,M.ROY,D.VARDAR-ULU,M.GARFINKEL,M.R.MANSOUR,AUTH 2 J.C.ASTER,S.C.BLACKLOWTITL STRUCTURE OF THE NOTCH1-NEGATIVE REGULATORY REGION:TITL 2 IMPLICATIONS FOR NORMAL ACTIVATION AND PATHOGENIC SIGNALINGTITL 3 IN T-ALL.REF BLOOD V. 113 4381 2009REFN ISSN 0006-4971PMID 19075186DOI 10.1182/BLOOD-2008-08-174748 Variant Set Distributions Ripley’s K Analysis Plots Variant […]

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3Q2U.A | GLIPR1

General Structure Information 3q2u GLIPR1 structure of human glioma pathogenesis-related protein 1 reveals unique loops and surface motifs. 1.85Å AUTH O.A.ASOJO,R.A.KOSKI,N.BONAFETITL STRUCTURAL STUDIES OF HUMAN GLIOMA PATHOGENESIS-RELATEDTITL 2 PROTEIN 1.REF ACTA CRYSTALLOGR.,SECT.D V. 67 847 2011REFN ISSN 0907-4449PMID 21931216DOI 10.1107/S0907444911028198 Variant Set Distributions Mapped Variants

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4MBS.B | CCR5

General Structure Information 4mbs CCR5 crystal structure of the ccr5 chemokine receptor 2.71Å AUTH Q.TAN,Y.ZHU,J.LI,Z.CHEN,G.W.HAN,I.KUFAREVA,T.LI,L.MA,AUTH 2 G.FENALTI,J.LI,W.ZHANG,X.XIE,H.YANG,H.JIANG,V.CHEREZOV,AUTH 3 H.LIU,R.C.STEVENS,Q.ZHAO,B.WUTITL STRUCTURE OF THE CCR5 CHEMOKINE RECEPTOR-HIV ENTRY INHIBITORTITL 2 MARAVIROC COMPLEX.REF SCIENCE V. 341 1387 2013REFN ISSN 0036-8075PMID 24030490DOI 10.1126/SCIENCE.1241475 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3JWQ.C | PDE6C

General Structure Information 3jwq PDE6C crystal structure of chimeric pde5/pde6 catalytic domain complexed with sildenafil 2.87Å AUTH B.BARREN,L.GAKHAR,H.MURADOV,K.K.BOYD,S.RAMASWAMY,AUTH 2 N.O.ARTEMYEVTITL STRUCTURAL BASIS OF PHOSPHODIESTERASE 6 INHIBITION BY THETITL 2 C-TERMINAL REGION OF THE GAMMA-SUBUNITREF EMBO J. V. 28 3613 2009REFN ISSN 0261-4189PMID 19798052DOI 10.1038/EMBOJ.2009.284 Variant Set Distributions Mapped Variants

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1W6J.A | LSS

General Structure Information 1w6j LSS structure of human osc in complex with ro 48-8071 2.2Å AUTH R.THOMA,T.SCHULZ-GASCH,B.DARCY,J.BENZ,J.AEBI,AUTH 2 H.DEHMLOW,M.HENNIG,M.STIHLE,A.RUFTITL INSIGHT INTO STEROID SCAFFOLD FORMATION FROM THETITL 2 STRUCTURE OF HUMAN OXIDOSQUALENE CYCLASEREF NATURE V. 432 118 2004REFN ISSN 0028-0836PMID 15525992DOI 10.1038/NATURE02993 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2KR6.A | PSEN1

General Structure Information 2kr6 PSEN1 solution structure of presenilin-1 ctf subunit -1.0Å AUTH V.DOETSCHTITL SOLUTION STRUCTURE OF PRESENILIN-1 CTF SUBUNITREF TO BE PUBLISHEDREFN Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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4IVO.B | PPOX

General Structure Information 4ivo PPOX structure of human protoporphyrinogen ix oxidase(r59q) 2.6Å AUTH B.WANG,X.WEN,X.QIN,Z.WANG,Y.TAN,Y.SHEN,Z.XITITL QUANTITATIVE STRUCTURAL INSIGHT INTO HUMAN VARIEGATETITL 2 PORPHYRIA DISEASE.REF J.BIOL.CHEM. V. 288 11731 2013REFN ISSN 0021-9258PMID 23467411DOI 10.1074/JBC.M113.459768 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4MSV.A | FASLG

General Structure Information 4msv FASLG crystal structure of fasl and dcr3 complex 2.5Å AUTH W.LIU,U.A.RAMAGOPAL,C.ZHAN,J.B.BONANNO,R.C.BHOSLE,AUTH 2 S.G.NATHENSON,S.C.ALMOTITL CRYSTAL STRUCTURE OF FASL AND DCR3 COMPLEXREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3FAY.A | IQGAP1

General Structure Information 3fay IQGAP1 crystal structure of the gap-related domain of iqgap1 2.2Å AUTH V.B.KURELLA,J.M.RICHARD,C.L.PARKE,L.F.LECOUR,AUTH 2 H.D.BELLAMY,D.K.WORTHYLAKETITL CRYSTAL STRUCTURE OF THE GTPASE-ACTIVATINGTITL 2 PROTEIN-RELATED DOMAIN FROM IQGAP1.REF J.BIOL.CHEM. V. 284 14857 2009REFN ISSN 0021-9258PMID 19321438DOI 10.1074/JBC.M808974200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3EH2.C | SEC24C

General Structure Information 3eh2 SEC24C crystal structure of the human copii-coat protein sec24c 2.35Å AUTH J.D.MANCIAS,J.GOLDBERGTITL STRUCTURAL BASIS OF CARGO MEMBRANE PROTEINTITL 2 DISCRIMINATION BY THE HUMAN COPII COAT MACHINERY.REF EMBO J. V. 27 2918 2008REFN ISSN 0261-4189PMID 18843296DOI 10.1038/EMBOJ.2008.208 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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