1HLG.B | LIPF

General Structure Information 1hlg LIPF crystal structure of human gastric lipase 3.0Å AUTH A.ROUSSEL,S.CANAAN,M.P.EGLOFF,M.RIVIERE,L.DUPUIS,R.VERGER,AUTH 2 C.CAMBILLAUTITL CRYSTAL STRUCTURE OF HUMAN GASTRIC LIPASE AND MODEL OFTITL 2 LYSOSOMAL ACID LIPASE, TWO LIPOLYTIC ENZYMES OF MEDICALTITL 3 INTEREST.REF J.BIOL.CHEM. V. 274 16995 1999REFN ISSN 0021-9258PMID 10358049DOI 10.1074/JBC.274.24.16995 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

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2PFR.A | NAT2

General Structure Information 2pfr NAT2 human n-acetyltransferase 2 1.92Å AUTH H.WU,W.TEMPEL,L.DOMBROVSKI,P.LOPPNAU,J.WEIGELT,M.SUNDSTROM,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,A.BOCHKAREV,D.M.GRANT,AUTH 3 A.N.PLOTNIKOV,STRUCTURAL GENOMICS CONSORTIUM (SGC)TITL THE CRYSTAL STRUCTURE OF HUMAN N-ACETYLTRANSFERASE 2 INTITL 2 COMPLEX WITH COAREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1Z6C.A | PROS1

General Structure Information 1z6c PROS1 solution structure of an egf pair (egf34) from vitamin k- dependent protein s -1.0Å AUTH T.DRAKENBERG,H.GHASRIANI,E.THULIN,A.MURANYI,AUTH 2 A.ANNILA,J.STENFLOTITL SOLUTION STRUCTURE OF THE CA(2+)-BINDING EGF3-4TITL 2 PAIR FROM VITAMIN K-DEPENDENT PROTEIN S:TITL 3 IDENTIFICATION OF AN UNUSUAL FOLD IN EGF3.REF BIOCHEMISTRY V. 44 8782 2005REFN ISSN 0006-2960PMID 15952784DOI 10.1021/BI050101F Variant Set […]

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1JLM.A | ITGAM

General Structure Information 1jlm ITGAM i-domain from integrin cr3, mn2+ bound 2.0Å AUTH J.O.LEE,L.A.BANKSTON,M.A.ARNAOUT,R.C.LIDDINGTONTITL TWO CONFORMATIONS OF THE INTEGRIN A-DOMAINTITL 2 (I-DOMAIN): A PATHWAY FOR ACTIVATION?REF STRUCTURE V. 3 1333 1995REFN ISSN 0969-2126PMID 8747460DOI 10.1016/S0969-2126(01)00271-4 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1PQ2.A | CYP2C8

General Structure Information 1pq2 CYP2C8 crystal structure of human drug metabolizing cytochrome p450 2c8 2.7Å AUTH G.A.SCHOCH,J.K.YANO,M.R.WESTER,K.J.GRIFFIN,AUTH 2 C.D.STOUT,E.F.JOHNSONTITL STRUCTURE OF HUMAN MICROSOMAL CYTOCHROME P450 2C8.TITL 2 EVIDENCE FOR A PERIPHERAL FATTY ACID BINDING SITEREF J.BIOL.CHEM. V. 279 9497 2004REFN ISSN 0021-9258PMID 14676196DOI 10.1074/JBC.M312516200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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1CJL.A | CTSL

General Structure Information 1cjl CTSL crystal structure of a cysteine protease proform 2.2Å AUTH R.COULOMBE,P.GROCHULSKI,J.SIVARAMAN,R.MENARD,AUTH 2 J.S.MORT,M.CYGLERTITL STRUCTURE OF HUMAN PROCATHEPSIN L REVEALS THETITL 2 MOLECULAR BASIS OF INHIBITION BY THE PROSEGMENT.REF EMBO J. V. 15 5492 1996REFN ISSN 0261-4189PMID 8896443 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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2V53.A | SPARC

General Structure Information 2v53 SPARC crystal structure of a sparc-collagen complex 3.2Å AUTH E.HOHENESTER,T.SASAKI,C.GIUDICI,R.W.FARNDALE,AUTH 2 H.P.BACHINGERTITL STRUCTURAL BASIS OF SEQUENCE-SPECIFIC COLLAGENTITL 2 RECOGNITION BY SPARC.REF PROC.NATL.ACAD.SCI.USA V. 105 18273 2008REFN ISSN 0027-8424PMID 19011090DOI 10.1073/PNAS.0808452105 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1M9I.A | ANXA6

General Structure Information 1m9i ANXA6 crystal structure of phosphorylation-mimicking mutant t356d of annexin vi 2.65Å AUTH C.FREYE-MINKS,R.H.KRETSINGER,C.E.CREUTZTITL STRUCTURAL AND DYNAMIC CHANGES IN HUMAN ANNEXIN VITITL 2 INDUCED BY A PHOSPHORYLATION-MIMICKING MUTATION,TITL 3 T356DREF BIOCHEMISTRY V. 42 620 2003REFN ISSN 0006-2960PMID 12534274DOI 10.1021/BI026742H Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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3GW3.A | UROD

General Structure Information 3gw3 UROD human urod mutant k297n 1.7Å AUTH C.A.WARBY,J.D.PHILLIPS,H.A.BERGONIA,F.G.WHITBY,C.P.HILL,AUTH 2 J.P.KUSHNERTITL STRUCTURAL AND KINETIC CHARACTERIZATION OF MUTANT HUMANTITL 2 UROPORPHYRINOGEN DECARBOXYLASES.REF CELL MOL BIOL V. 55 40 2009REF 2 (NOISY-LE-GRAND)REFNPMID 19656450 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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3OJY.B | C8B

General Structure Information 3ojy C8B crystal structure of human complement component c8 2.51Å AUTH L.L.LOVELACE,C.L.COOPER,J.M.SODETZ,L.LEBIODATITL STRUCTURE OF HUMAN C8 PROTEIN PROVIDES MECHANISTIC INSIGHTTITL 2 INTO MEMBRANE PORE FORMATION BY COMPLEMENT.REF J.BIOL.CHEM. V. 286 17585 2011REFN ISSN 0021-9258PMID 21454577DOI 10.1074/JBC.M111.219766 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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