1L5S.A | PYGL

General Structure Information 1l5s PYGL human liver glycogen phosphorylase complexed with uric acid, n-acetyl- beta-d-glucopyranosylamine, and cp-403,700 2.1Å AUTH J.L.EKSTROM,T.A.PAULY,M.D.CARTY,W.C.SOELLER,J.CULP,AUTH 2 D.E.DANLEY,D.J.HOOVER,J.L.TREADWAY,E.M.GIBBS,R.J.FLETTERICK,AUTH 3 Y.S.DAY,D.G.MYSZKA,V.L.RATHTITL STRUCTURE-ACTIVITY ANALYSIS OF THE PURINE BINDING SITE OFTITL 2 HUMAN LIVER GLYCOGEN PHOSPHORYLASE.REF CHEM.BIOL. V. 9 915 2002REFN ISSN 1074-5521PMID 12204691DOI 10.1016/S1074-5521(02)00186-2 Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]

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3BCH.A | RPSA

General Structure Information 3bch RPSA crystal structure of the human laminin receptor precursor 2.15Å AUTH K.V.JAMIESON,J.WU,S.R.HUBBARD,D.MERUELOTITL CRYSTAL STRUCTURE OF THE HUMAN LAMININ RECEPTORTITL 2 PRECURSOR.REF J.BIOL.CHEM. V. 283 3002 2008REFN ISSN 0021-9258PMID 18063583DOI 10.1074/JBC.C700206200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3BG3.A | PC

General Structure Information 3bg3 PC crystal structure of human pyruvate carboxylase (missing the biotin carboxylase domain at the n-terminus) 2.8Å AUTH S.XIANG,L.TONGTITL CRYSTAL STRUCTURES OF HUMAN AND STAPHYLOCOCCUSTITL 2 AUREUS PYRUVATE CARBOXYLASE AND MOLECULAR INSIGHTSTITL 3 INTO THE CARBOXYLTRANSFER REACTION.REF NAT.STRUCT.MOL.BIOL. V. 15 295 2008REFN ISSN 1545-9993PMID 18297087DOI 10.1038/NSMB.1393 Variant Set Distributions Ripley’s K Analysis […]

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3LBX.B | SPTB

General Structure Information 3lbx SPTB crystal structure of the erythrocyte spectrin tetramerization domain complex 2.8Å AUTH J.J.IPSARO,S.L.HARPER,T.E.MESSICK,R.MARMORSTEIN,A.MONDRAGON,AUTH 2 D.W.SPEICHERTITL CRYSTAL STRUCTURE AND FUNCTIONAL INTERPRETATION OF THETITL 2 ERYTHROCYTE SPECTRIN TETRAMERIZATION DOMAIN COMPLEX.REF BLOOD V. 115 4843 2010REFN ISSN 0006-4971PMID 20197550DOI 10.1182/BLOOD-2010-01-261396 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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1GXD.B | MMP2

General Structure Information 1gxd MMP2 prommp-2/timp-2 complex 3.1Å AUTH E.MORGUNOVA,A.TUUTTILA,U.BERGMANN,K.TRYGGVASONTITL STRUCTURAL INSIGHT INTO THE COMPLEX FORMATION OF LATENTTITL 2 MATRIX METALLOPROTEINASE 2 WITH TISSUE INHIBITOR OFTITL 3 METALLOPROTEINASE 2REF PROC.NATL.ACAD.SCI.USA V. 99 7414 2002REFN ISSN 0027-8424PMID 12032297DOI 10.1073/PNAS.102185399 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3EQ1.B | HMBS

General Structure Information 3eq1 HMBS the crystal structure of human porphobilinogen deaminase at 2.8a resolution 2.8Å AUTH R.GILL,S.E.KOLSTOE,F.MOHAMMED,A.AL D-BASS,AUTH 2 J.E.MOSELY,M.SARWAR,J.B.COOPER,S.P.WOOD,AUTH 3 P.M.SHOOLINGIN-JORDANTITL STRUCTURE OF HUMAN PORPHOBILINOGEN DEAMINASE AT 2.8TITL 2 A: THE MOLECULAR BASIS OF ACUTE INTERMITTENTTITL 3 PORPHYRIAREF BIOCHEM.J. V. 420 17 2009REFN ISSN 0264-6021PMID 19207107DOI 10.1042/BJ20082077 Variant Set Distributions Ripley’s K Analysis […]

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2GJX.G | HEXB

General Structure Information 2gjx HEXB crystallographic structure of human beta-hexosaminidase a 2.8Å AUTH M.J.LEMIEUX,B.L.MARK,M.M.CHERNEY,S.G.WITHERS,D.J.MAHURAN,AUTH 2 M.N.G.JAMESTITL CRYSTALLOGRAPHIC STRUCTURE OF HUMAN BETA-HEXOSAMINIDASE A:TITL 2 INTERPRETATION OF TAY-SACHS MUTATIONS AND LOSS OF GM2TITL 3 GANGLIOSIDE HYDROLYSISREF J.MOL.BIOL. V. 359 913 2006REFN ISSN 0022-2836PMID 16698036DOI 10.1016/J.JMB.2006.04.004 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]

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2GK1.G | HEXA

General Structure Information 2gk1 HEXA x-ray crystal structure of ngt-bound hexa 3.25Å AUTH M.J.LEMIEUX,B.L.MARK,M.M.CHERNEY,S.G.WITHERS,D.J.MAHURAN,AUTH 2 M.N.JAMESTITL CRYSTALLOGRAPHIC STRUCTURE OF HUMAN BETA-HEXOSAMINIDASE A:TITL 2 INTERPRETATION OF TAY-SACHS MUTATIONS AND LOSS OF G(M2)TITL 3 GANGLIOSIDE HYDROLYSIS.REF J.MOL.BIOL. V. 359 913 2006REFN ISSN 0022-2836PMID 16698036DOI 10.1016/J.JMB.2006.04.004 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]

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1NR1.C | GLUD1

General Structure Information 1nr1 GLUD1 crystal structure of the r463a mutant of human glutamate dehydrogenase 3.3Å AUTH S.BANERJEE,T.SCHMIDT,J.FANG,C.A.STANLEY,T.J.SMITHTITL STRUCTURAL STUDIES ON ADP ACTIVATION OF MAMMALIANTITL 2 GLUTAMATE DEHYDROGENASE AND THE EVOLUTION OFTITL 3 REGULATIONREF BIOCHEMISTRY V. 42 3446 2003REFN ISSN 0006-2960PMID 12653548DOI 10.1021/BI0206917 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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4LPK.A | KRAS

General Structure Information 4lpk KRAS crystal structure of k-ras wt, gdp-bound 1.5Å AUTH J.M.OSTREM,U.PETERS,M.L.SOS,J.A.WELLS,K.M.SHOKATTITL K-RAS(G12C) INHIBITORS ALLOSTERICALLY CONTROL GTP AFFINITYTITL 2 AND EFFECTOR INTERACTIONS.REF NATURE V. 503 548 2013REFN ISSN 0028-0836PMID 24256730DOI 10.1038/NATURE12796 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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