1Z57.A | CLK1

General Structure Information 1z57 CLK1 crystal structure of human clk1 in complex with 10z-hymenialdisine 1.7Å AUTH A.N.BULLOCK,S.DAS,J.E.DEBRECZENI,P.RELLOS,O.FEDOROV,AUTH 2 F.H.NIESEN,K.GUO,E.PAPAGRIGORIOU,A.L.AMOS,S.CHO,B.E.TURK,AUTH 3 G.GHOSH,S.KNAPPTITL KINASE DOMAIN INSERTIONS DEFINE DISTINCT ROLES OF CLKTITL 2 KINASES IN SR PROTEIN PHOSPHORYLATION.REF STRUCTURE V. 17 352 2009REFN ISSN 0969-2126PMID 19278650DOI 10.1016/J.STR.2008.12.023 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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1WSV.A | AMT

General Structure Information 1wsv AMT crystal structure of human t-protein of glycine cleavage system 2.6Å AUTH K.OKAMURA-IKEDA,H.HOSAKA,M.YOSHIMURA,E.YAMASHITA,AUTH 2 S.TOMA,A.NAKAGAWA,K.FUJIWARA,Y.MOTOKAWA,H.TANIGUCHITITL CRYSTAL STRUCTURE OF HUMAN T-PROTEIN OF GLYCINETITL 2 CLEAVAGE SYSTEM AT 2.0A RESOLUTION AND ITSTITL 3 IMPLICATION FOR UNDERSTANDING NON-KETOTICTITL 4 HYPERGLYCINEMIAREF J.MOL.BIOL. V. 351 1146 2005REFN ISSN 0022-2836PMID 16051266DOI 10.1016/J.JMB.2005.06.056 Variant Set Distributions Ripley’s K […]

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4CFE.E | PRKAG1

General Structure Information 4cfe PRKAG1 structure of full length human ampk in complex with a small molecule activator, a benzimidazole derivative (991) 3.02Å AUTH B.XIAO,M.J.SANDERS,D.CARMENA,N.J.BRIGHT,L.F.HAIRE,AUTH 2 E.UNDERWOOD,B.R.PATEL,R.B.HEATH,P.A.WALKER,S.HALLEN,AUTH 3 F.GIORDANETTO,S.R.MARTIN,D.CARLING,S.J.GAMBLINTITL STRUCTURAL BASIS OF AMPK REGULATION BY SMALL MOLECULETITL 2 ACTIVATORS.REF NAT.COMMUN. V. 4 3017 2013REFN ISSN 2041-1723PMID 24352254DOI 10.1038/NCOMMS4017 Variant Set Distributions Mapped Variants

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1WUU.C | GALK1

General Structure Information 1wuu GALK1 crystal structure of human galactokinase complexed with mgamppnp and galactose 2.5Å AUTH J.B.THODEN,D.J.TIMSON,R.J.REECE,H.M.HOLDENTITL MOLECULAR STRUCTURE OF HUMAN GALACTOKINASE:TITL 2 IMPLICATIONS FOR TYPE II GALACTOSEMIAREF J.BIOL.CHEM. V. 280 9662 2005REFN ISSN 0021-9258PMID 15590630DOI 10.1074/JBC.M412916200 Variant Set Distributions Mapped Variants

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1RQD.B | DHPS

General Structure Information 1rqd DHPS deoxyhypusine synthase holoenzyme in its low ionic strength, high ph crystal form with the inhibitor gc7 bound in the active site 3.0Å AUTH T.C.UMLAND,E.C.WOLFF,M.-H.PARK,D.R.DAVIESTITL A NEW CRYSTAL STRUCTURE OF DEOXYHYPUSINE SYNTHASE REVEALSTITL 2 THE CONFIGURATION OF THE ACTIVE ENZYME AND OF ANTITL 3 ENZYME-NAD-INHIBITOR TERNARY COMPLEXREF J.BIOL.CHEM. V. 279 28697 […]

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4FIT.A | FHIT

General Structure Information 4fit FHIT fhit-apo 2.5Å AUTH C.D.LIMA,M.G.KLEIN,W.A.HENDRICKSONTITL STRUCTURE-BASED ANALYSIS OF CATALYSIS ANDTITL 2 SUBSTRATE DEFINITION IN THE HIT PROTEIN FAMILY.REF SCIENCE V. 278 286 1997REFN ISSN 0036-8075PMID 9323207DOI 10.1126/SCIENCE.278.5336.286 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3T7O.A | GYG1

General Structure Information 3t7o GYG1 crystal structure of human glycogenin-1 (gyg1) complexed with manganese, udp-glucose and glucose 1.85Å AUTH A.CHAIKUAD,D.S.FROESE,G.BERRIDGE,F.VON DELFT,U.OPPERMANN,AUTH 2 W.W.YUETITL CONFORMATIONAL PLASTICITY OF GLYCOGENIN AND ITSTITL 2 MALTOSACCHARIDE SUBSTRATE DURING GLYCOGEN BIOGENESIS.REF PROC.NATL.ACAD.SCI.USA V. 108 21028 2011REFN ISSN 0027-8424PMID 22160680DOI 10.1073/PNAS.1113921108 Variant Set Distributions Mapped Variants

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2NZT.A | HK2

General Structure Information 2nzt HK2 crystal structure of human hexokinase ii 2.45Å AUTH W.M.RABEH,H.ZHU,L.NEDYALKOVA,W.TEMPEL,G.WASNEY,AUTH 2 R.LANDRY,M.VEDADI,C.H.ARROWSMITH,A.M.EDWARDS,AUTH 3 M.SUNDSTROM,J.WEIGELT,A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF HUMAN HEXOKINASE IIREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis 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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4ET7.A | EPHA5

General Structure Information 4et7 EPHA5 crystal structure of eph receptor 5 2.6Å AUTH J.H.SHI,W.L.ZHU,J.X.SONGTITL CRYSTAL STRUCTURE OF EPH RECEPTOR 5REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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