4FGU.B | LGMN

General Structure Information 4fgu LGMN crystal structure of prolegumain 3.9Å AUTH E.DALL,H.BRANDSTETTERTITL MECHANISTIC AND STRUCTURAL STUDIES ON LEGUMAIN EXPLAIN ITSTITL 2 ZYMOGENICITY, DISTINCT ACTIVATION PATHWAYS, AND REGULATION.REF PROC.NATL.ACAD.SCI.USA V. 110 10940 2013REFN ISSN 0027-8424PMID 23776206DOI 10.1073/PNAS.1300686110 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3BER.A | DDX47

General Structure Information 3ber DDX47 human dead-box rna-helicase ddx47, conserved domain i in complex with amp 1.4Å AUTH P.SCHUTZ,T.KARLBERG,S.VAN DEN BERG,R.COLLINS,L.LEHTIO,AUTH 2 M.HOGBOM,L.HOLMBERG-SCHIAVONE,W.TEMPEL,H.W.PARK,AUTH 3 M.HAMMARSTROM,M.MOCHE,A.G.THORSELL,H.SCHULERTITL COMPARATIVE STRUCTURAL ANALYSIS OF HUMAN DEAD-BOX RNATITL 2 HELICASES.REF PLOS ONE V. 5 12791 2010REFN ESSN 1932-6203PMID 20941364DOI 10.1371/JOURNAL.PONE.0012791 Variant Set Distributions Mapped Variants

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2CN1.A | NT5C3A

General Structure Information 2cn1 NT5C3A crystal structure of human cytosolic 5-nucleotidase iii ( nt5c3)(casp target) 2.67Å AUTH K.WALLDEN,P.STENMARK,T.NYMAN,S.FLODIN,S.GRASLUND,P.LOPPNAU,AUTH 2 V.BIANCHI,P.NORDLUNDTITL CRYSTAL STRUCTURE OF HUMAN CYTOSOLIC 5-NUCLEOTIDASE II:TITL 2 INSIGHTS INTO ALLOSTERIC REGULATION AND SUBSTRATETITL 3 RECOGNITION.REF J.BIOL.CHEM. V. 282 17828 2007REFN ISSN 0021-9258PMID 17405878DOI 10.1074/JBC.M700917200 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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1XM2.A | PTP4A1

General Structure Information 1xm2 PTP4A1 crystal structure of human prl-1 2.7Å AUTH D.G.JEONG,S.J.KIM,J.H.KIM,J.H.SON,M.R.PARK,S.M.LIM,AUTH 2 T.S.YOON,S.E.RYUTITL TRIMERIC STRUCTURE OF PRL-1 PHOSPHATASE REVEALS ANTITL 2 ACTIVE ENZYME CONFORMATION AND REGULATIONTITL 3 MECHANISMSREF J.MOL.BIOL. V. 345 401 2005REFN ISSN 0022-2836PMID 15571731DOI 10.1016/J.JMB.2004.10.061 Variant Set Distributions Mapped Variants

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1S18.A | CANT1

General Structure Information 1s18 CANT1 structure and protein design of human apyrase 1.7Å AUTH J.DAI,J.LIU,Y.DENG,T.M.SMITH,M.LUTITL STRUCTURE AND PROTEIN DESIGN OF A HUMAN PLATELETTITL 2 FUNCTION INHIBITOR.REF CELL(CAMBRIDGE,MASS.) V. 116 649 2004REFN ISSN 0092-8674PMID 15006348DOI 10.1016/S0092-8674(04)00172-2 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2AQ0.A | ERCC4

General Structure Information 2aq0 ERCC4 solution structure of the human homodimeric dna repair protein xpf -1.0Å AUTH D.DAS,K.TRIPSIANES,N.G.JASPERS,J.H.HOEIJMAKERS,AUTH 2 R.KAPTEIN,R.BOELENS,G.FOLKERSTITL THE HHH DOMAIN OF THE HUMAN DNA REPAIR PROTEIN XPFTITL 2 FORMS STABLE HOMODIMERSREF PROTEINS V. 70 1551 2008REFN ISSN 0887-3585PMID 17912758DOI 10.1002/PROT.21635 Variant Set Distributions Mapped Variants

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2W4R.B | DHX58

General Structure Information 2w4r DHX58 crystal structure of the regulatory domain of human lgp2 2.6Å AUTH D.A.PIPPIG,J.C.HELLMUTH,S.CUI,A.KIRCHHOFER,AUTH 2 K.LAMMENS,A.LAMMENS,A.SCHMIDT,S.ROTHENFUSSER,AUTH 3 K.P.HOPFNERTITL THE REGULATORY DOMAIN OF THE RIG-I FAMILY ATPASETITL 2 LGP2 SENSES DOUBLE-STRANDED RNA.REF NUCLEIC ACIDS RES. V. 37 2014 2009REFN ISSN 0305-1048PMID 19208642DOI 10.1093/NAR/GKP059 Variant Set Distributions Mapped Variants

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3DLJ.B | CNDP1

General Structure Information 3dlj CNDP1 crystal structure of human carnosine dipeptidase 1 2.26Å AUTH E.DOBROVETSKY,A.DONG,A.SEITOVA,H.HE,W.TEMPEL,I.KOZIERADZKI,AUTH 2 C.H.ARROWSMITH,J.WEIGELT,C.BOUNTRA,A.M.EDWARDS,A.BOCHKAREV,AUTH 3 D.COSSARTITL CRYSTAL STRUCTURE OF HUMAN CARNOSINE DIPEPTIDASE 1.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3O2Q.A | SYMPK

General Structure Information 3o2q SYMPK crystal structure of the human symplekin-ssu72-ctd phosphopeptide complex 2.4Å AUTH K.XIANG,T.NAGAIKE,S.XIANG,T.KILIC,M.M.BEH,J.L.MANLEY,L.TONGTITL CRYSTAL STRUCTURE OF THE HUMAN SYMPLEKIN-SSU72-CTDTITL 2 PHOSPHOPEPTIDE COMPLEX.REF NATURE V. 467 729 2010REFN ISSN 0028-0836PMID 20861839DOI 10.1038/NATURE09391 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3B7K.A | ACOT12

General Structure Information 3b7k ACOT12 human acyl-coenzyme a thioesterase 12 2.7Å AUTH L.LEHTIO,R.D.BUSAM,C.H.ARROWSMITH,R.COLLINS,L.G.DAHLGREN,AUTH 2 A.M.EDWARDS,S.FLODIN,A.FLORES,S.GRASLUND,M.HAMMARSTROM,AUTH 3 B.M.HALLBERG,M.D.HERMAN,A.JOHANSSON,I.JOHANSSON,A.KALLAS,AUTH 4 T.KARLBERG,T.KOTENYOVA,M.MOCHE,M.E.NILSSON,P.NORDLUND,AUTH 5 T.NYMAN,C.PERSSON,J.SAGEMARK,M.SUNDSTROM,SVENSSON L.,AUTH 6 A.G.THORSELL,L.TRESAUGUES,S.VAN DEN BERG,J.WEIGELT,M.WELIN,AUTH 7 H.BERGLUNDTITL HUMAN ACYL-COENZYME A THIOESTERASE 12.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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