1PC2.A | FIS1

General Structure Information 1pc2 FIS1 solution structure of human mitochondria fission protein fis1 -1.0Å AUTH M.SUZUKI,S.Y.JEONG,M.KARBOWSKI,R.J.YOULE,N.TJANDRATITL THE SOLUTION STRUCTURE OF HUMAN MITOCHONDRIATITL 2 FISSION PROTEIN FIS1 REVEALS A NOVEL TPR-LIKETITL 3 HELIX BUNDLEREF J.MOL.BIOL. V. 334 445 2003REFN ISSN 0022-2836PMID 14623186DOI 10.1016/J.JMB.2003.09.064 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3PQ1.B | MTPAP

General Structure Information 3pq1 MTPAP crystal structure of human mitochondrial poly(a) polymerase (papd1) 3.1Å AUTH Y.BAI,S.K.SRIVASTAVA,J.H.CHANG,J.L.MANLEY,L.TONGTITL STRUCTURAL BASIS FOR DIMERIZATION AND ACTIVITY OF HUMANTITL 2 PAPD1, A NONCANONICAL POLY(A) POLYMERASE.REF MOL.CELL V. 41 311 2011REFN ISSN 1097-2765PMID 21292163DOI 10.1016/J.MOLCEL.2011.01.013 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2IWZ.B | OXSM

General Structure Information 2iwz OXSM human mitochondrial beta-ketoacyl acp synthase complexed with hexanoic acid 1.65Å AUTH C.E.CHRISTENSEN,B.B.KRAGELUND,P.VON WETTSTEIN-KNOWLES,AUTH 2 A.HENRIKSENTITL STRUCTURE OF THE HUMAN BETA-KETOACYL [ACP] SYNTHASE FROMTITL 2 THE MITOCHONDRIAL TYPE II FATTY ACID SYNTHASE.REF PROTEIN SCI. V. 16 261 2007REFN ISSN 0961-8368PMID 17242430DOI 10.1110/PS.062473707 Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]

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4NXT.B | MIEF1

General Structure Information 4nxt MIEF1 crystal structure of the cytosolic domain of human mid51 2.12Å AUTH V.RICHTER,C.S.PALMER,L.D.OSELLAME,A.P.SINGH,K.ELGASS,AUTH 2 D.A.STROUD,H.SESAKI,M.KVANSAKUL,M.T.RYANTITL STRUCTURAL AND FUNCTIONAL ANALYSIS OF MID51, A DYNAMINTITL 2 RECEPTOR REQUIRED FOR MITOCHONDRIAL FISSION.REF J.CELL BIOL. V. 204 477 2014REFN ISSN 0021-9525PMID 24515348DOI 10.1083/JCB.201311014 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]

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1NUT.B | NMNAT3

General Structure Information 1nut NMNAT3 crystal structure of human cytosolic nmn/namn adenylyltransferase complexed with atp analog 1.9Å AUTH X.ZHANG,O.V.KURNASOV,S.KARTHIKEYAN,N.V.GRISHIN,A.L.OSTERMAN,AUTH 2 H.ZHANGTITL STRUCTURAL CHARACTERIZATION OF A HUMAN CYTOSOLIC NMN/NAMNTITL 2 ADENYLYLTRANSFERASE AND IMPLICATION IN HUMAN NADTITL 3 BIOSYNTHESISREF J.BIOL.CHEM. V. 278 13503 2003REFN ISSN 0021-9258PMID 12574164DOI 10.1074/JBC.M300073200 Variant Set Distributions Mapped Variants

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3MVB.O | MTERF

General Structure Information 3mvb MTERF crystal structure of a triple rfy mutant of human mterf1 bound to the termination sequence 2.79Å AUTH E.YAKUBOVSKAYA,E.MEJIA,J.BYRNES,E.HAMBARDJIEVA,AUTH 2 M.GARCIA-DIAZTITL HELIX UNWINDING AND BASE FLIPPING ENABLE HUMAN MTERF1 TOTITL 2 TERMINATE MITOCHONDRIAL TRANSCRIPTION.REF CELL(CAMBRIDGE,MASS.) V. 141 982 2010REFN ISSN 0092-8674PMID 20550934DOI 10.1016/J.CELL.2010.05.018 Variant Set Distributions Ripley’s K Analysis Plots Variant […]

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3RMU.B | MCEE

General Structure Information 3rmu MCEE crystal structure of human methylmalonyl-coa epimerase, mcee 1.8Å AUTH A.CHAIKUAD,E.KRYSZTOFINSKA,D.S.FROESE,W.W.YUE,M.VOLLMAR,AUTH 2 J.R.C.MUNIZ,F.VON DELFT,J.WEIGELT,C.H.ARROWSMITH,AUTH 3 A.M.EDWARDS,C.BOUNTRA,U.OPPERMANN,AUTH 4 STRUCTURAL GENOMICS CONSORTIUM (SGC)TITL CRYSTAL STRUCTURE OF HUMAN METHYLMALONYL-COA EPIMERASE, MCEEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4DWN.A | C9orf89

General Structure Information 4dwn C9orf89 crystal structure of human bincard card 1.58Å AUTH K.E.CHEN,A.A.RICHARDS,T.T.CARADOC-DAVIES,P.R.VAJJHALA,AUTH 2 G.ROBIN,L.H.LUA,J.M.HILL,K.SCHRODER,M.J.SWEET,S.KELLIE,AUTH 3 B.KOBE,J.MARTINTITL THE STRUCTURE OF THE CASPASE RECRUITMENT DOMAIN OF BINCARDTITL 2 REVEALS THAT ALL THREE CYSTEINES CAN BE OXIDIZED.REF ACTA CRYSTALLOGR.,SECT.D V. 69 774 2013REFN ISSN 0907-4449PMID 23633586DOI 10.1107/S0907444913001558 Variant Set Distributions Mapped Variants

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4DA1.A | PPM1K

General Structure Information 4da1 PPM1K crystal structure of branched-chain alpha-ketoacid dehydrogenase phosphatase with mg (ii) ions at the active site 2.38Å AUTH R.M.WYNN,J.LI,C.A.BRAUTIGAM,J.L.CHUANG,D.T.CHUANGTITL STRUCTURAL AND BIOCHEMICAL CHARACTERIZATION OF HUMANTITL 2 MITOCHONDRIAL BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASETITL 3 PHOSPHATASE.REF J.BIOL.CHEM. V. 287 9178 2012REFN ISSN 0021-9258PMID 22291014DOI 10.1074/JBC.M111.314963 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

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3RC8.A | SUPV3L1

General Structure Information 3rc8 SUPV3L1 human mitochondrial helicase suv3 in complex with short rna fragment 2.9Å AUTH R.JEDRZEJCZAK,J.WANG,M.DAUTER,R.J.SZCZESNY,P.P.STEPIEN,AUTH 2 Z.DAUTERTITL HUMAN SUV3 PROTEIN REVEALS UNIQUE FEATURES AMONG SF2TITL 2 HELICASES.REF ACTA CRYSTALLOGR.,SECT.D V. 67 988 2011REFN ISSN 0907-4449PMID 22101826DOI 10.1107/S0907444911040248 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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