Assessment of Structural Intolerance and Durability
General Structure Information 3igu NAGA crystal structure of human alpha-n-acetylgalactosaminidase, covalent intermediate 2.15Å AUTH N.E.CLARK,S.C.GARMANTITL THE 1.9 A STRUCTURE OF HUMANTITL 2 ALPHA-N-ACETYLGALACTOSAMINIDASE: THE MOLECULAR BASIS OFTITL 3 SCHINDLER AND KANZAKI DISEASESREF J.MOL.BIOL. V. 393 435 2009REFN ISSN 0022-2836PMID 19683538DOI 10.1016/J.JMB.2009.08.021 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]
General Structure Information 1fsu ARSB 4-sulfatase (human) 2.5Å AUTH C.S.BOND,P.R.CLEMENTS,S.J.ASHBY,C.A.COLLYER,S.J.HARROP,AUTH 2 J.J.HOPWOOD,J.M.GUSSTITL STRUCTURE OF A HUMAN LYSOSOMAL SULFATASE.REF STRUCTURE V. 5 277 1997REFN ISSN 0969-2126PMID 9032078DOI 10.1016/S0969-2126(97)00185-8 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3vwk CD1D ternary crystal structure of the human nkt tcr-cd1d-4deoxy-alpha- galactosylceramide complex 2.94Å AUTH K.S.WUN,F.ROSS,O.PATEL,G.S.BESRA,S.A.PORCELLI,AUTH 2 S.K.RICHARDSON,S.KESHIPEDDY,A.R.HOWELL,D.I.GODFREY,AUTH 3 J.ROSSJOHNTITL HUMAN AND MOUSE TYPE I NATURAL KILLER T CELL ANTIGENTITL 2 RECEPTORS EXHIBIT DIFFERENT FINE SPECIFICITIES FORTITL 3 CD1D-ANTIGEN COMPLEXREF J.BIOL.CHEM. V. 287 39139 2012REFN ISSN 0021-9258PMID 22995911DOI 10.1074/JBC.M112.412320 Variant Set Distributions Ripley’s […]
General Structure Information 3lxc GLA interconversion of human lysosomal enzyme specificities 2.35Å AUTH I.B.TOMASIC,M.C.METCALF,A.I.GUCE,N.E.CLARK,S.C.GARMANTITL INTERCONVERSION OF THE SPECIFICITIES OF HUMAN LYSOSOMALTITL 2 ENZYMES ASSOCIATED WITH FABRY AND SCHINDLER DISEASES.REF J.BIOL.CHEM. V. 285 21560 2010REFN ISSN 0021-9258PMID 20444686DOI 10.1074/JBC.M110.118588 Variant Set Distributions Mapped Variants
General Structure Information 3bqq PSAP crystal structure of human saposin d (triclinic) 2.0Å AUTH K.POPOVIC,G.G.PRIVETITL STRUCTURES OF THE HUMAN CERAMIDE ACTIVATOR PROTEINTITL 2 SAPOSIN D.REF ACTA CRYSTALLOGR.,SECT.D V. 64 589 2008REFN ISSN 0907-4449PMID 18453694DOI 10.1107/S0907444908003120 Variant Set Distributions Mapped Variants
General Structure Information 2v5o IGF2R structure of human igf2r domains 11-14 2.91Å AUTH J.BROWN,C.DELAINE,O.J.ZACCHEO,C.SIEBOLD,R.J.GILBERT,AUTH 2 G.VAN BOXEL,A.DENLEY,J.C.WALLACE,A.B.HASSAN,B.E.FORBES,AUTH 3 E.Y.JONESTITL STRUCTURE AND FUNCTIONAL ANALYSIS OF THE IGF-II/IGF2RTITL 2 INTERACTIONREF EMBO J. V. 27 265 2008REFN ISSN 0261-4189PMID 18046459DOI 10.1038/SJ.EMBOJ.7601938 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3gxm GBA crystal structure of acid-beta-glucosidase at ph 4.5, phosphate crystallization condition 2.2Å AUTH R.L.LIEBERMAN,J.A.DAQUINO,D.RINGE,G.A.PETSKOTITL EFFECTS OF PH AND IMINOSUGAR PHARMACOLOGICAL CHAPERONES ONTITL 2 LYSOSOMAL GLYCOSIDASE STRUCTURE AND STABILITY.REF BIOCHEMISTRY V. 48 4816 2009REFN ISSN 0006-2960PMID 19374450DOI 10.1021/BI9002265 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2v5p IGF2 complex structure of human igf2r domains 11-13 bound to igf-ii 4.1Å AUTH J.BROWN,C.DELAINE,O.J.ZACCHEO,C.SIEBOLD,AUTH 2 R.J.GILBERT,G.VAN BOXEL,A.DENLEY,J.C.WALLACE,AUTH 3 A.B.HASSAN,B.E.FORBES,E.Y.JONESTITL STRUCTURE AND FUNCTIONAL ANALYSIS OF THETITL 2 IGF-II/IGF2R INTERACTIONREF EMBO J. V. 27 265 2008REFN ISSN 0261-4189PMID 18046459DOI 10.1038/SJ.EMBOJ.7601938 Variant Set Distributions Mapped Variants
General Structure Information 3kq4 CUBN structure of intrinsic factor-cobalamin bound to its receptor cubilin 3.3Å AUTH C.B.ANDERSEN,M.MADSEN,T.STORM,S.K.MOESTRUP,G.R.ANDERSENTITL STRUCTURAL BASIS FOR RECEPTOR RECOGNITION OFTITL 2 VITAMIN-B(12)-INTRINSIC FACTOR COMPLEXES.REF NATURE V. 464 445 2010REFN ISSN 0028-0836PMID 20237569DOI 10.1038/NATURE08874 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants
General Structure Information 3kfq CTSV unreduced cathepsin v in complex with stefin a 1.99Å AUTH M.RENKO,D.TURKTITL UNREDUCED CATHEPSIN V IN COMPLEX WITH STEFIN AREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants