4BZC.A | SAMHD1

General Structure Information 4bzc SAMHD1 crystal structure of the tetrameric dgtp-bound wild type samhd1 catalytic core 2.88Å AUTH X.JI,Y.WU,J.YAN,J.MEHRENS,H.YANG,M.DELUCIA,C.HAO,AUTH 2 A.M.GRONENBORN,J.SKOWRONSKI,J.AHN,Y.XIONGTITL MECHANISM OF ALLOSTERIC ACTIVATION OF SAMHD1 BY DGTPREF NAT.STRUCT.MOL.BIOL. V. 20 1304 2013REFN ISSN 1545-9993PMID 24141705DOI 10.1038/NSMB.2692 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2L9N.A | SBDS

General Structure Information 2l9n SBDS structure of the human shwachman-bodian-diamond syndrome (sbds) protein -1.0Å AUTH A.J.FINCH,C.HILCENKO,N.BASSE,L.F.DRYNAN,B.GOYENECHEA,AUTH 2 T.F.MENNE,A.GONZALEZ FERNANDEZ,P.SIMPSON,C.S.DSANTOS,AUTH 3 M.J.ARENDS,J.DONADIEU,C.BELLANNE-CHANTELOT,M.COSTANZO,AUTH 4 C.BOONE,A.N.MCKENZIE,S.M.FREUND,A.J.WARRENTITL UNCOUPLING OF GTP HYDROLYSIS FROM EIF6 RELEASE ON THETITL 2 RIBOSOME CAUSES SHWACHMAN-DIAMOND SYNDROME.REF GENES DEV. V. 25 917 2011REFN ISSN 0890-9369PMID 21536732DOI 10.1101/GAD.623011 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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2YHW.A | GNE

General Structure Information 2yhw GNE high-resolution crystal structures of n-acetylmannosamine kinase: insights about substrate specificity, activity and inhibitor modelling. 1.64Å AUTH J.MARTINEZ,L.D.NGUYEN,E.TAUBERGER,S.HINDERLICH,W.REUTTER,AUTH 2 H.FAN,W.SAENGER,S.MONIOTTITL CRYSTAL STRUCTURES OF N-ACETYLMANNOSAMINE KINASE PROVIDETITL 2 INSIGHTS INTO ENZYME SPECIFICITY AND INHIBITIONREF J.BIOL.CHEM. V. 287 13656 2012REFN ISSN 0021-9258PMID 22343627DOI 10.1074/JBC.M111.318170 Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]

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2QZ4.A | SPG7

General Structure Information 2qz4 SPG7 human paraplegin, aaa domain in complex with adp 2.22Å AUTH T.KARLBERG,S.VAN DEN BERG,M.HAMMARSTROM,J.SAGEMARK,AUTH 2 I.JOHANSSON,L.HOLMBERG-SCHIAVONE,H.SCHULERTITL CRYSTAL STRUCTURE OF THE ATPASE DOMAIN OF THE HUMAN AAA+TITL 2 PROTEIN PARAPLEGIN/SPG7.REF PLOS ONE V. 4 E6975 2009REFN ESSN 1932-6203PMID 19841671DOI 10.1371/JOURNAL.PONE.0006975 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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4CH9.B | KLHL3

General Structure Information 4ch9 KLHL3 crystal structure of the human klhl3 kelch domain in complex with a wnk4 peptide 1.84Å AUTH F.SCHUMACHER,F.J.SORRELL,D.R.ALESSI,A.N.BULLOCK,T.KURZTITL STRUCTURAL AND BIOCHEMICAL CHARACTERISATION OF THE KLHL3-TITL 2 WNK KINASE INTERACTION IMPORTANT IN BLOOD PRESSURETITL 3 REGULATION.REF BIOCHEM.J. V. 460 237 2014REFN ISSN 0264-6021PMID 24641320DOI 10.1042/BJ20140153 Variant Set Distributions Mapped Variants

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4HXI.A | KLHL3

General Structure Information 4hxi KLHL3 crystal structure of klhl3/cul3 complex 3.51Å AUTH A.X.JI,G.G.PRIVETITL STRUCTURAL AND FUNCTIONAL CHARACTERIZATION OF KLHL3/CUL3TITL 2 COMPLEX AND IMPLICATIONS OF FHHT MUTATIONS IN CUL3 BINDINGREF TO BE PUBLISHEDREFN Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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2H1S.C | GRHPR

General Structure Information 2h1s GRHPR crystal structure of a glyoxylate/hydroxypyruvate reductase from homo sapiens 2.45Å AUTH E.BITTO,G.E.WESENBERG,G.N.PHILLIPS JR.,C.A.BINGMAN,AUTH 2 CENTER FOR EUKARYOTIC STRUCTURAL GENOMICS (CESG)TITL CRYSTAL STRUCTURE OF A GLYOXYLATE/HYDROXYPYRUVATE REDUCTASETITL 2 FROM HOMO SAPIENSREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3N5N.X | MUTYH

General Structure Information 3n5n MUTYH crystal structure analysis of the catalytic domain and interdomain connector of human muty homologue 2.3Å AUTH P.J.LUNCSFORD,D.Y.CHANG,G.SHI,J.BERNSTEIN,A.MADABUSHI,AUTH 2 D.N.PATTERSON,A.L.LU,E.A.TOTHTITL A STRUCTURAL HINGE IN EUKARYOTIC MUTY HOMOLOGUES MEDIATESTITL 2 CATALYTIC ACTIVITY AND RAD9-RAD1-HUS1 CHECKPOINT COMPLEXTITL 3 INTERACTIONS.REF J.MOL.BIOL. V. 403 351 2010REFN ISSN 0022-2836PMID 20816984DOI 10.1016/J.JMB.2010.08.045 Variant Set Distributions Ripley’s K […]

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2G4C.A | POLG2

General Structure Information 2g4c POLG2 crystal structure of human dna polymerase gamma accessory subunit 3.15Å AUTH L.FAN,S.KIM,C.L.FARR,K.T.SCHAEFER,K.M.RANDOLPH,AUTH 2 J.A.TAINER,L.S.KAGUNITITL A NOVEL PROCESSIVE MECHANISM FOR DNA SYNTHESISTITL 2 REVEALED BY STRUCTURE, MODELING AND MUTAGENESIS OFTITL 3 THE ACCESSORY SUBUNIT OF HUMAN MITOCHONDRIAL DNATITL 4 POLYMERASEREF J.MOL.BIOL. V. 358 1229 2006REFN ISSN 0022-2836PMID 16574152DOI 10.1016/J.JMB.2006.02.073 Variant Set […]

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1RX0.C | ACAD8

General Structure Information 1rx0 ACAD8 crystal structure of isobutyryl-coa dehydrogenase complexed with substrate/ligand. 1.77Å AUTH K.P.BATTAILE,T.V.NGUYEN,J.VOCKLEY,J.J.KIMTITL STRUCTURES OF ISOBUTYRYL-COA DEHYDROGENASE ANDTITL 2 ENZYME-PRODUCT COMPLEX: COMPARISON WITHTITL 3 ISOVALERYL- AND SHORT-CHAIN ACYL-COATITL 4 DEHYDROGENASES.REF J.BIOL.CHEM. V. 279 16526 2004REFN ISSN 0021-9258PMID 14752098DOI 10.1074/JBC.M400034200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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