1RY7.B | FGFR3

General Structure Information 1ry7 FGFR3 crystal structure of the 3 ig form of fgfr3c in complex with fgf1 3.2Å AUTH S.K.OLSEN,O.A.IBRAHIMI,A.RAUCCI,F.ZHANG,AUTH 2 A.V.ELISEENKOVA,A.YAYON,C.BASILICO,R.J.LINHARDT,AUTH 3 J.SCHLESSINGER,M.MOHAMMADITITL INSIGHTS INTO THE MOLECULAR BASIS FOR FIBROBLASTTITL 2 GROWTH FACTOR RECEPTOR AUTOINHIBITION ANDTITL 3 LIGAND-BINDING PROMISCUITY.REF PROC.NATL.ACAD.SCI.USA V. 101 935 2004REFN ISSN 0027-8424PMID 14732692DOI 10.1073/PNAS.0307287101 Variant Set Distributions Ripley’s K […]

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6PAX.A | PAX6

General Structure Information 6pax PAX6 crystal structure of the human pax-6 paired domain-dna complex reveals a general model for pax protein-dna interactions 2.5Å AUTH H.E.XU,M.A.ROULD,W.XU,J.A.EPSTEIN,R.L.MAAS,C.O.PABOTITL CRYSTAL STRUCTURE OF THE HUMAN PAX6 PAIREDTITL 2 DOMAIN-DNA COMPLEX REVEALS SPECIFIC ROLES FOR THETITL 3 LINKER REGION AND CARBOXY-TERMINAL SUBDOMAIN INTITL 4 DNA BINDING.REF GENES DEV. V. 13 1263 […]

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3CXL.A | CHN1

General Structure Information 3cxl CHN1 crystal structure of human chimerin 1 (chn1) 2.6Å AUTH L.SHEN,M.BUCK,Y.TONG,W.TEMPEL,F.MACKENZIE,C.H.ARROWSMITH,AUTH 2 A.M.EDWARDS,C.BOUNTRA,M.WILKSTROM,A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF HUMAN CHIMERIN 1 (CHN1).REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3THC.A | GLB1

General Structure Information 3thc GLB1 crystal structure of human beta-galactosidase in complex with galactose 1.8Å AUTH U.OHTO,K.USUI,T.OCHI,K.YUKI,Y.SATOW,T.SHIMIZUTITL CRYSTAL STRUCTURE OF HUMAN BETA-GALACTOSIDASE: STRUCTURALTITL 2 BASIS OF GM1 GANGLIOSIDOSIS AND MORQUIO B DISEASESREF J.BIOL.CHEM. V. 287 1801 2012REFN ISSN 0021-9258PMID 22128166DOI 10.1074/JBC.M111.293795 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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3QFC.A | POR

General Structure Information 3qfc POR crystal structure of human nadph-cytochrome p450 (v492e mutant) 1.8Å AUTH C.XIA,S.P.PANDA,C.C.MAROHNIC,P.MARTASEK,B.S.MASTERS,J.J.KIMTITL STRUCTURAL BASIS FOR HUMAN NADPH-CYTOCHROME P450TITL 2 OXIDOREDUCTASE DEFICIENCY.REF PROC.NATL.ACAD.SCI.USA V. 108 13486 2011REFN ISSN 0027-8424PMID 21808038DOI 10.1073/PNAS.1106632108 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2OKN.A | PEPD

General Structure Information 2okn PEPD crystal strcture of human prolidase 2.45Å AUTH U.MUELLER,F.H.NIESEN,Y.ROSKE,F.GOETZ,J.BEHLKE,K.BUESSOW,AUTH 2 U.HEINEMANNTITL CRYSTAL STRUCTURE OF HUMAN PROLIDASE: THE MOLECULAR BASIS OFTITL 2 PD DISEASE.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1FG9.C | IFNGR1

General Structure Information 1fg9 IFNGR1 3:1 complex of interferon-gamma receptor with interferon- gamma dimer 2.9Å AUTH D.J.THIEL,M.H.LE DU,R.L.WALTER,A.DARCY,C.CHENE,AUTH 2 M.FOUNTOULAKIS,G.GAROTTA,F.K.WINKLER,S.E.EALICKTITL OBSERVATION OF AN UNEXPECTED THIRD RECEPTORTITL 2 MOLECULE IN THE CRYSTAL STRUCTURE OF HUMANTITL 3 INTERFERON-GAMMA RECEPTOR COMPLEX.REF STRUCTURE FOLD.DES. V. 8 927 2000REFN ISSN 0969-2126PMID 10986460DOI 10.1016/S0969-2126(00)00184-2 Variant Set Distributions Pathogenic Proximity Analysis Mapped […]

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1V16.A | BCKDHA

General Structure Information 1v16 BCKDHA crosstalk between cofactor binding and the phosphorylation loop conformation in the bckd machine 1.9Å AUTH J.LI,R.M.WYNN,M.MACHIUS,J.L.CHUANG,S.KARTHIKEYAN,AUTH 2 D.R.TOMCHICK,D.T.CHUANGTITL CROSS-TALK BETWEEN THIAMIN DIPHOSPHATE BINDING ANDTITL 2 PHOSPHORYLATION LOOP CONFORMATION IN HUMAN BRANCHED-CHAINTITL 3 {ALPHA}-KETO ACID DECARBOXYLASE/DEHYDROGENASEREF J.BIOL.CHEM. V. 279 32968 2004REFN ISSN 0021-9258PMID 15166214DOI 10.1074/JBC.M403611200 Variant Set Distributions Pathogenic Proximity Analysis […]

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3II5.A | BRAF

General Structure Information 3ii5 BRAF the complex of wild-type b-raf with pyrazolo pyrimidine inhibitor 2.79Å AUTH D.M.BERGER,N.TORRES,M.DUTIA,D.POWELL,G.CISZEWSKI,AUTH 2 A.GOPALSAMY,J.I.LEVIN,K.H.KIM,W.XU,J.WILHELM,Y.HU,AUTH 3 K.COLLINS,L.FELDBERG,S.KIM,E.FROMMER,AUTH 4 D.WOJCIECHOWICZ,R.MALLONTITL NON-HINGE-BINDING PYRAZOLO[1,5-A]PYRIMIDINES ASTITL 2 POTENT B-RAF KINASE INHIBITORS.REF BIOORG.MED.CHEM.LETT. V. 19 6519 2009REFN ISSN 0960-894XPMID 19864136DOI 10.1016/J.BMCL.2009.10.049 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4DB1.A | MYH7

General Structure Information 4db1 MYH7 cardiac human myosin s1dc, beta isoform complexed with mn-amppnp 2.6Å AUTH V.A.KLENCHIN,J.C.DEACON,A.C.COMBS,L.A.LEINWAND,I.RAYMENTTITL CARDIAC HUMAN MYOSIN S1DC, BETA ISOFORM COMPLEXED WITHTITL 2 MN-AMPPNPREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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