3A4U.B | MCFD2

General Structure Information 3a4u MCFD2 crystal structure of mcfd2 in complex with carbohydrate recognition domain of ergic-53 1.84Å AUTH M.NISHIO,Y.KAMIYA,T.MIZUSHIMA,S.WAKATSUKI,H.SASAKAWA,AUTH 2 K.YAMAMOTO,S.UCHIYAMA,M.NODA,A.R.MCKAY,K.FUKUI,H.P.HAURI,AUTH 3 K.KATOTITL STRUCTURAL BASIS FOR THE COOPERATIVE INTERPLAY BETWEEN THETITL 2 TWO CAUSATIVE GENE PRODUCTS OF COMBINED FACTOR V AND FACTORTITL 3 VIII DEFICIENCY.REF PROC.NATL.ACAD.SCI.USA V. 107 4034 2010REFN ISSN 0027-8424PMID 20142513DOI 10.1073/PNAS.0908526107 […]

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2DIZ.A | TXNDC5

General Structure Information 2diz TXNDC5 the solution structure of the third thioredoxin domain of human thioredoxin domain-containing protein 5 -1.0Å AUTH N.TOCHIO,S.KOSHIBA,M.INOUE,T.KIGAWA,S.YOKOYAMATITL THE SOLUTION STRUCTURE OF THE THIRD THIOREDOXINTITL 2 DOMAIN OF HUMAN THIOREDOXIN DOMAIN-CONTAININGTITL 3 PROTEIN 5REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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2F4W.B | UBE2J2

General Structure Information 2f4w UBE2J2 human ubiquitin-conjugating enzyme e2 j2 2.0Å AUTH Y.SHENG,J.H.HONG,R.DOHERTY,T.SRIKUMAR,J.SHLOUSH,AUTH 2 G.V.AVVAKUMOV,J.R.WALKER,S.XUE,D.NECULAI,J.W.WAN,S.K.KIM,AUTH 3 C.H.ARROWSMITH,B.RAUGHT,S.DHE-PAGANONTITL A HUMAN UBIQUITIN CONJUGATING ENZYME (E2)-HECT E3 LIGASETITL 2 STRUCTURE-FUNCTION SCREEN.REF MOL CELL PROTEOMICS V. 11 329 2012REFNPMID 22496338DOI 10.1074/MCP.O111.013706 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3T3S.E | CYP2A13

General Structure Information 3t3s CYP2A13 human cytochrome p450 2a13 in complex with pilocarpine 3.0Å AUTH N.M.DEVORE,K.M.MENEELY,A.G.BART,E.S.STEPHENS,K.P.BATTAILE,AUTH 2 E.E.SCOTTTITL STRUCTURAL COMPARISON OF CYTOCHROMES P450 2A6, 2A13, AND 2E1TITL 2 WITH PILOCARPINE.REF FEBS J. V. 279 1621 2012REFN ISSN 1742-464XPMID 22051186DOI 10.1111/J.1742-4658.2011.08412.X Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3LRA.A | LIN7C

General Structure Information 3lra LIN7C structural basis for assembling a human tripartite complex dlg1-mpp7- mals3 2.95Å AUTH X.YANG,X.XIE,L.CHEN,H.ZHOU,Z.WANG,W.ZHAO,R.TIAN,R.ZHANG,AUTH 2 C.TIAN,J.LONG,Y.SHENTITL STRUCTURAL BASIS FOR TANDEM L27 DOMAIN-MEDIATEDTITL 2 POLYMERIZATIONREF FASEB J. V. 24 4806 2010REFN ISSN 0892-6638PMID 20702775DOI 10.1096/FJ.10-163857 Variant Set Distributions Mapped Variants

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4E36.A | ERAP2

General Structure Information 4e36 ERAP2 crystal structure of the human endoplasmic reticulum aminopeptidase 2 variant n392k 3.22Å AUTH I.EVNOUCHIDOU,J.BIRTLEY,S.SEREGIN,A.PAPAKYRIAKOU,E.ZERVOUDI,AUTH 2 M.SAMIOTAKI,G.PANAYOTOU,P.GIASTAS,O.PETRAKIS,D.GEORGIADIS,AUTH 3 A.AMALFITANO,E.SARIDAKIS,I.M.MAVRIDIS,E.STRATIKOSTITL A COMMON SINGLE NUCLEOTIDE POLYMORPHISM IN ENDOPLASMICTITL 2 RETICULUM AMINOPEPTIDASE 2 INDUCES A SPECIFICITY SWITCH THATTITL 3 LEADS TO ALTERED ANTIGEN PROCESSING.REF J.IMMUNOL. V. 189 2383 2012REFN ISSN 0022-1767PMID 22837489DOI 10.4049/JIMMUNOL.1200918 Variant […]

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3CZH.A | CYP2R1

General Structure Information 3czh CYP2R1 crystal structure of cyp2r1 in complex with vitamin d2 2.3Å AUTH N.V.STRUSHKEVICH,W.TEMPEL,A.A.GILEP,P.LOPPNAU,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,M.WILKSTROM,AUTH 3 A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF CYP2R1 IN COMPLEX WITHTITL 2 VITAMIN D2.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3LD6.A | CYP51A1

General Structure Information 3ld6 CYP51A1 crystal structure of human lanosterol 14alpha-demethylase (cyp51) in complex with ketoconazole 2.8Å AUTH N.STRUSHKEVICH,S.A.USANOV,H.W.PARKTITL STRUCTURAL BASIS OF HUMAN CYP51 INHIBITION BY ANTIFUNGALTITL 2 AZOLES.REF J.MOL.BIOL. V. 397 1067 2010REFN ISSN 0022-2836PMID 20149798DOI 10.1016/J.JMB.2010.01.075 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3AQF.B | CALCRL

General Structure Information 3aqf CALCRL crystal structure of the human crlr/ramp2 extracellular complex 2.6Å AUTH S.KUSANO,M.KUKIMOTO-NIINO,N.HINO,N.OHSAWA,K.OKUDA,AUTH 2 K.SAKAMOTO,M.SHIROUZU,T.SHINDO,S.YOKOYAMATITL STRUCTURAL BASIS FOR EXTRACELLULAR INTERACTIONS BETWEENTITL 2 CALCITONIN RECEPTOR-LIKE RECEPTOR AND RECEPTORTITL 3 ACTIVITY-MODIFYING PROTEIN 2 FOR ADRENOMEDULLIN-SPECIFICTITL 4 BINDINGREF PROTEIN SCI. V. 21 199 2012REFN ISSN 0961-8368PMID 22102369DOI 10.1002/PRO.2003 Variant Set Distributions Mapped Variants

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2K60.A | STIM1

General Structure Information 2k60 STIM1 nmr structure of calcium-loaded stim1 ef-sam -1.0Å AUTH P.B.STATHOPULOS,L.ZHENG,G.Y.LI,M.J.PLEVIN,M.IKURATITL STRUCTURAL AND MECHANISTIC INSIGHTS INTO STIM1-MEDIATEDTITL 2 INITIATION OF STORE-OPERATED CALCIUM ENTRY.REF CELL(CAMBRIDGE,MASS.) V. 135 110 2008REFN ISSN 0092-8674PMID 18854159DOI 10.1016/J.CELL.2008.08.006 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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