3DLX.A | OXCT1

General Structure Information 3dlx OXCT1 crystal structure of human 3-oxoacid coa transferase 1 2.2Å AUTH K.L.KAVANAGH,N.SHAFQAT,W.W.YUE,S.PICAUD,J.W.MURRAY,AUTH 2 E.M.MACLEAN,F.VON DELFT,A.K.ROOS,C.H.ARROWSMITH,M.WIKSTROM,AUTH 3 A.M.EDWARDS,C.BOUNTRA,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN 3-OXOACID COA TRANSFERASE 1.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3ULL.B | SSBP1

General Structure Information 3ull SSBP1 human mitochondrial single-stranded dna binding protein 2.4Å AUTH C.YANG,U.CURTH,C.URBANKE,C.KANGTITL CRYSTAL STRUCTURE OF HUMAN MITOCHONDRIALTITL 2 SINGLE-STRANDED DNA BINDING PROTEIN AT 2.4 ATITL 3 RESOLUTION.REF NAT.STRUCT.BIOL. V. 4 153 1997REFN ISSN 1072-8368PMID 9033597DOI 10.1038/NSB0297-153 Variant Set Distributions Mapped Variants

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3DLX.A | OXCT1

General Structure Information 3dlx OXCT1 crystal structure of human 3-oxoacid coa transferase 1 2.2Å AUTH K.L.KAVANAGH,N.SHAFQAT,W.W.YUE,S.PICAUD,J.W.MURRAY,AUTH 2 E.M.MACLEAN,F.VON DELFT,A.K.ROOS,C.H.ARROWSMITH,M.WIKSTROM,AUTH 3 A.M.EDWARDS,C.BOUNTRA,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN 3-OXOACID COA TRANSFERASE 1.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2UXW.A | ACADVL

General Structure Information 2uxw ACADVL crystal structure of human very long chain acyl-coa dehydrogenase (acadvl) 1.45Å AUTH A.C.W.PIKE,V.HOZJAN,C.SMEE,G.BERRIDGE,N.BURGESS,E.SALAH,AUTH 2 G.BUNKOCZI,J.UPPENBERG,E.UGOCHUKWU,F.VON DELFT,AUTH 3 C.H.ARROWSMITH,A.EDWARDS,J.WEIGELT,M.SUNDSTROM,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN VERY LONG CHAIN ACYL- COATITL 2 DEHYDROGENASE (ACADVL)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3HLK.B | ACOT2

General Structure Information 3hlk ACOT2 crystal structure of human mitochondrial acyl-coa thioesterase (acot2) 2.1Å AUTH C.R.MANDEL,B.TWEEL,L.TONGTITL CRYSTAL STRUCTURE OF HUMAN MITOCHONDRIAL ACYL-COATITL 2 THIOESTERASE (ACOT2)REF BIOCHEM.BIOPHYS.RES.COMMUN. V. 385 630 2009REFN ISSN 0006-291XPMID 19497300DOI 10.1016/J.BBRC.2009.05.122 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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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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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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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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2JIF.A | ACADSB

General Structure Information 2jif ACADSB structure of human short-branched chain acyl-coa dehydrogenase (acadsb) 2.0Å AUTH A.C.W.PIKE,V.HOZJAN,C.SMEE,F.H.NIESEN,K.L.KAVANAGH,C.UMEANO,AUTH 2 A.P.TURNBULL,F.VON DELFT,J.WEIGELT,A.EDWARDS,C.H.ARROWSMITH,AUTH 3 M.SUNDSTROM,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN SHORT-BRANCHED CHAIN ACYL-COATITL 2 DEHYDROGENASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2X36.E | LONP1

General Structure Information 2×36 LONP1 structure of the proteolytic domain of the human mitochondrial lon protease 2.0Å AUTH J.GARCIA-NAFRIA,G.ONDROVICOVA,E.BLAGOVA,AUTH 2 V.M.LEVDIKOV,J.A.BAUER,C.K.SUZUKI,E.KUTEJOVA,AUTH 3 A.J.WILKINSON,K.S.WILSONTITL STRUCTURE OF THE CATALYTIC DOMAIN OF THE HUMANTITL 2 MITOCHONDRIAL LON PROTEASE: PROPOSED RELATION OFTITL 3 OLIGOMER FORMATION AND ACTIVITY.REF PROTEIN SCI. V. 19 987 2010REFN ISSN 0961-8368PMID 20222013DOI 10.1002/PRO.376 Variant Set […]

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