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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2D4C.C | SH3GL2

General Structure Information 2d4c SH3GL2 crystal structure of the endophilin bar domain mutant 2.4Å AUTH M.MASUDA,S.TAKEDA,M.SONE,T.OHKI,H.MORI,Y.KAMIOKA,AUTH 2 N.MOCHIZUKITITL ENDOPHILIN BAR DOMAIN DRIVES MEMBRANE CURVATURE BYTITL 2 TWO NEWLY IDENTIFIED STRUCTURE-BASED MECHANISMSREF EMBO J. V. 25 2889 2006REFN ISSN 0261-4189PMID 16763557DOI 10.1038/SJ.EMBOJ.7601176 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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4CCZ.A | MTR

General Structure Information 4ccz MTR crystal structure of human 5-methyltetrahydrofolate- homocysteine methyltransferase, the homocysteine and folate binding domains 2.7Å AUTH M.VOLLMAR,W.KIYANI,T.KROJER,S.GOUBIN,N.BURGESS-BROWN,AUTH 2 F.VON DELFT,U.OPPERMANN,A.EDWARDS,C.ARROWSMITH,C.BOUNTRA,AUTH 3 W.W.YUETITL CRYSTAL STRUCTURE OF HUMAN 5-TITL 2 METHYLTETRAHYDROFOLATE-HOMOCYSTEINE METHYLTRANSFERASE, THETITL 3 HOMOCYSTEINE AND FOLATE BINDING DOMAINSREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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3OHV.F | BACH2

General Structure Information 3ohv BACH2 crystal structure of the human bach2 poz domain, form ii 2.2Å AUTH G.O.ROSBROOK,M.A.STEAD,S.B.CARR,S.C.WRIGHTTITL THE STRUCTURE OF THE BACH2 POZ-DOMAIN DIMER REVEALS ANTITL 2 INTERSUBUNIT DISULFIDE BOND.REF ACTA CRYSTALLOGR.,SECT.D V. 68 26 2012REFN ISSN 0907-4449PMID 22194330DOI 10.1107/S0907444911048335 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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2DB8.A | TRIM9

General Structure Information 2db8 TRIM9 solution structures of the fn3 domain of human tripartite motif protein 9 -1.0Å AUTH M.SATO,S.KOSHIBA,M.INOUE,T.KIGAWA,S.YOKOYAMATITL SOLUTION STRUCTURES OF THE FN3 DOMAIN OF HUMANTITL 2 TRIPARTITE MOTIF PROTEIN 9REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2J4E.E | ITPA

General Structure Information 2j4e ITPA the itp complex of human inosine triphosphatase 2.8Å AUTH P.STENMARK,P.KURSULA,S.FLODIN,S.GRASLUND,R.LANDRY,AUTH 2 P.NORDLUND,H.SCHULERTITL CRYSTAL STRUCTURE OF HUMAN INOSINE TRIPHOSPHATASE:TITL 2 SUBSTRATE BINDING AND IMPLICATION OF THE INOSINETITL 3 TRIPHOSPHATASE DEFICIENCY MUTATION P32T.REF J.BIOL.CHEM. V. 282 3182 2007REFN ISSN 0021-9258PMID 17138556DOI 10.1074/JBC.M609838200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

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1Y97.A | TREX2

General Structure Information 1y97 TREX2 the human trex2 3 exonuclease structure suggests a mechanism for efficient non-processive dna catalysis 2.5Å AUTH F.W.PERRINO,S.HARVEY,S.MCMILLIN,T.HOLLISTITL THE HUMAN TREX2 3 -> 5-EXONUCLEASE STRUCTURETITL 2 SUGGESTS A MECHANISM FOR EFFICIENT NONPROCESSIVETITL 3 DNA CATALYSIS.REF J.BIOL.CHEM. V. 280 15212 2005REFN ISSN 0021-9258PMID 15661738DOI 10.1074/JBC.M500108200 Variant Set Distributions Ripley’s K Analysis Plots […]

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2I3B.A | NTPCR

General Structure Information 2i3b NTPCR solution structure of a human cancer-related nucleoside triphosphatase -1.0Å AUTH W.J.PLACZEK,M.S.ALMEIDA,K.WUTHRICHTITL NMR STRUCTURE AND FUNCTIONAL CHARACTERIZATION OF ATITL 2 HUMAN CANCER-RELATED NUCLEOSIDE TRIPHOSPHATASE.REF J.MOL.BIOL. V. 367 788 2007REFN ISSN 0022-2836PMID 17291528DOI 10.1016/J.JMB.2007.01.001 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2XV4.S | POLR3C

General Structure Information 2xv4 POLR3C structure of human rpc62 (partial) 2.95Å AUTH S.LEFEVRE,H.DUMAY-ODELOT,L.EL AYOUBI,A.BUDD,P.LEGRAND,AUTH 2 N.PINAUD,M.TEICHMANN,S.FRIBOURGTITL STRUCTURE-FUNCTION ANALYSIS OF HRPC62 PROVIDES INSIGHTSTITL 2 INTO RNA POLYMERASE III TRANSCRIPTIONREF NAT.STRUCT.MOL.BIOL. V. 18 352 2011REFN ISSN 1545-9993PMID 21358628DOI 10.1038/NSMB.1996 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2WFT.A | HHIP

General Structure Information 2wft HHIP crystal structure of the human hip ectodomain 2.8Å AUTH B.BISHOP,A.R.ARICESCU,K.HARLOS,C.A.OCALLAGHAN,AUTH 2 E.Y.JONES,C.SIEBOLDTITL STRUCTURAL INSIGHTS INTO HEDGEHOG LIGANDTITL 2 SEQUESTRATION BY THE HUMAN HEDGEHOG-INTERACTINGTITL 3 PROTEIN HIPREF NAT.STRUCT.MOL.BIOL. V. 16 698 2009REFN ISSN 1545-9993PMID 19561611DOI 10.1038/NSMB.1607 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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