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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4CC1.B | JAG1

General Structure Information 4cc1 JAG1 notch ligand, jagged-1, contains an n-terminal c2 domain 2.84Å AUTH C.R.CHILAKURI,D.SHEPPARD,M.X.G.ILAGAN,L.R.HOLT,F.ABBOTT,AUTH 2 S.LIANG,R.KOPAN,P.A.HANDFORD,S.M.LEATITL STRUCTURAL ANALYSIS UNCOVERS LIPID-BINDING PROPERTIES OFTITL 2 NOTCH LIGANDSREF CELL REP. V. 5 861 2013REFN ISSN 2211-1247PMID 24239355DOI 10.1016/J.CELREP.2013.10.029 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3EFH.A | PRPS1

General Structure Information 3efh PRPS1 crystal structure of human phosphoribosyl pyrophosphate synthetase 1 2.6Å AUTH X.PENG,X.LITITL CRYSTAL STRUCTURE OF HUMAN PHOSPHORIBOSYLTITL 2 PYROPHOSPHATE SYNTHETASE 1REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3JTS.E | B2M

General Structure Information 3jts B2M gy9-mamu-a*02-hb2m 2.8Å AUTH L.DAITITL STRUCTURE OF MAMU A*2REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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2VOM.B | TPI1

General Structure Information 2vom TPI1 structural basis of human triosephosphate isomerase deficiency. mutation e104d and correlation to solvent perturbation. 1.85Å AUTH C.RODRIGUEZ-ALMAZAN,R.ARREOLA-ALEMON,AUTH 2 D.RODRIGUEZ-LARREA,B.AGUIRRE-LOPEZ,AUTH 3 M.T.DE GOMEZ-PUYOU,R.PEREZ-MONTFORT,M.COSTAS,AUTH 4 A.GOMEZ-PUYOU,A.TORRES-LARIOSTITL STRUCTURAL BASIS OF HUMAN TRIOSEPHOSPHATETITL 2 ISOMERASE DEFICIENCY: MUTATION E104D IS RELATED TOTITL 3 ALTERATIONS OF A CONSERVED WATER NETWORK AT THETITL 4 DIMER INTERFACE.REF J.BIOL.CHEM. […]

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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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3LAW.C | RAB7A

General Structure Information 3law RAB7A structure of gtp-bound l129f mutant rab7 2.8Å AUTH B.A.MCCRAY,E.SKORDALAKES,J.P.TAYLORTITL DISEASE MUTATIONS IN RAB7 RESULT IN UNREGULATED NUCLEOTIDETITL 2 EXCHANGE AND INAPPROPRIATE ACTIVATION.REF HUM.MOL.GENET. V. 19 1033 2010REFN ISSN 0964-6906PMID 20028791DOI 10.1093/HMG/DDP567 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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3CAQ.B | AKR1D1

General Structure Information 3caq AKR1D1 crystal structure of 5beta-reductase (akr1d1) in complex with nadph 2.2Å AUTH F.FAUCHER,L.CANTIN,V.LUU-THE,F.LABRIE,R.BRETONTITL CRYSTAL STRUCTURES OF HUMAN DELTA4-3-KETOSTEROIDTITL 2 5BETA-REDUCTASE (AKR1D1) REVEAL THE PRESENCE OF ANTITL 3 ALTERNATIVE BINDING SITE RESPONSIBLE FOR SUBSTRATETITL 4 INHIBITION (DAGGER) (,) (DOUBLE DAGGER).REF BIOCHEMISTRY V. 47 13537 2008REFN ISSN 0006-2960PMID 19075558DOI 10.1021/BI801276H Variant Set Distributions […]

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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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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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