2WYA.C | HMGCS2

General Structure Information 2wya HMGCS2 crystal structure of human mitochondrial 3-hydroxy-3- methylglutaryl-coenzyme a synthase 2 (hmgcs2) 1.7Å AUTH N.SHAFQAT,A.TURNBULL,J.ZSCHOCKE,U.OPPERMANN,AUTH 2 W.W.YUETITL CRYSTAL STRUCTURES OF HUMAN HMG-COA SYNTHASETITL 2 ISOFORMS PROVIDE INSIGHTS INTO INHERITEDTITL 3 KETOGENESIS DISORDERS AND INHIBITOR DESIGN.REF J.MOL.BIOL. V. 398 497 2010REFN ISSN 0022-2836PMID 20346956DOI 10.1016/J.JMB.2010.03.034 Variant Set Distributions Ripley’s K Analysis Plots […]

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3QMK.A | APLP1

General Structure Information 3qmk APLP1 crystal structure of the e2 domain of aplp1 in complex with heparin hexasaccharide 2.21Å AUTH Y.XUE,S.LEE,Y.HATITL CRYSTAL STRUCTURE OF AMYLOID PRECURSOR-LIKE PROTEIN 1 ANDTITL 2 HEPARIN COMPLEX SUGGESTS A DUAL ROLE OF HEPARIN IN E2TITL 3 DIMERIZATION.REF PROC.NATL.ACAD.SCI.USA V. 108 16229 2011REFN ISSN 0027-8424PMID 21930949DOI 10.1073/PNAS.1103407108 Variant Set Distributions Ripley’s […]

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2C0M.F | PEX5

General Structure Information 2c0m PEX5 apo form of the tpr domain of the pex5p receptor 2.5Å AUTH W.A.STANLEY,F.V.FILIPP,P.KURSULA,N.SCHULLER,AUTH 2 R.ERDMANN,W.SCHLIEBS,M.SATTLER,M.WILMANNSTITL RECOGNITION OF A FUNCTIONAL PEROXISOME TYPE 1TITL 2 TARGET BY THE DYNAMIC IMPORT RECEPTOR PEX5P.REF MOL.CELL V. 24 653 2006REFN ISSN 1097-2765PMID 17157249DOI 10.1016/J.MOLCEL.2006.10.024 Variant Set Distributions Mapped Variants

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3IKM.D | POLG

General Structure Information 3ikm POLG crystal structure of human mitochondrial dna polymerase holoenzyme 3.24Å AUTH Y.S.LEE,W.D.KENNEDY,Y.W.YINTITL STRUCTURAL INSIGHT INTO PROCESSIVE HUMANTITL 2 MITOCHONDRIAL DNA SYNTHESIS AND DISEASE-RELATEDTITL 3 POLYMERASE MUTATIONS.REF CELL(CAMBRIDGE,MASS.) V. 139 312 2009REFN ISSN 0092-8674PMID 19837034DOI 10.1016/J.CELL.2009.07.050 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1OIP.A | TTPA

General Structure Information 1oip TTPA the molecular basis of vitamin e retention: structure of human alpha-tocopherol transfer protein 1.95Å AUTH R.MEIER,T.TOMIZAKI,C.SCHULZE-BRIESE,U.BAUMANN,AUTH 2 A.STOCKERTITL THE MOLECULAR BASIS OF VITAMIN E RETENTION:TITL 2 STRUCTURE OF HUMAN ALPHA-TOCOPHEROL TRANSFERTITL 3 PROTEINREF J.MOL.BIOL. V. 331 725 2003REFN ISSN 0022-2836PMID 12899840DOI 10.1016/S0022-2836(03)00724-1 Variant Set Distributions Ripley’s K Analysis Plots Variant […]

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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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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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2W8R.A | ALDH5A1

General Structure Information 2w8r ALDH5A1 the crystal structure of human ssadh in complex with nad+ 2.4Å AUTH Y.-G.KIM,S.LEE,O.-S.KWON,S.-Y.PARK,S.-J.LEE,AUTH 2 B.-J.PARK,K.-J.KIMTITL REDOX-SWITCH MODULATION OF HUMAN SSADH BY DYNAMICTITL 2 CATALYTIC LOOP.REF EMBO J. V. 28 959 2009REFN ISSN 0261-4189PMID 19300440DOI 10.1038/EMBOJ.2009.40 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3FBY.A | COMP

General Structure Information 3fby COMP the crystal structure of the signature domain of cartilage oligomeric matrix protein. 3.15Å AUTH K.TAN,M.DUQUETTE,A.JOACHIMIAK,J.LAWLERTITL THE CRYSTAL STRUCTURE OF THE SIGNATURE DOMAIN OF CARTILAGETITL 2 OLIGOMERIC MATRIX PROTEIN: IMPLICATIONS FOR COLLAGEN,TITL 3 GLYCOSAMINOGLYCAN AND INTEGRIN BINDING.REF FASEB J. V. 23 2490 2009REFN ISSN 0892-6638PMID 19276170DOI 10.1096/FJ.08-128090 Variant Set Distributions Ripley’s […]

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