Assessment of Structural Intolerance and Durability
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 […]
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
General Structure Information 1j1d TNNI3 crystal structure of the 46kda domain of human cardiac troponin in the ca2+ saturated form 2.61Å AUTH S.TAKEDA,A.YAMASHITA,K.MAEDA,Y.MAEDATITL STRUCTURE OF THE CORE DOMAIN OF HUMAN CARDIACTITL 2 TROPONIN IN THE CA2+-SATURATED FORMREF NATURE V. 424 35 2003REFN ISSN 0028-0836PMID 12840750DOI 10.1038/NATURE01780 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 1xmi CFTR crystal structure of human f508a nbd1 domain with atp 2.25Å AUTH H.A.LEWIS,X.ZHAO,C.WANG,J.M.SAUDER,I.ROONEY,B.W.NOLAND,AUTH 2 D.LORIMER,M.C.KEARINS,K.CONNERS,B.CONDON,P.C.MALONEY,AUTH 3 W.B.GUGGINO,J.F.HUNT,S.EMTAGETITL IMPACT OF THE DELTA-F508 MUTATION IN FIRSTTITL 2 NUCLEOTIDE-BINDING DOMAIN OF HUMAN CYSTIC FIBROSISTITL 3 TRANSMEMBRANE CONDUCTANCE REGULATOR ON DOMAIN FOLDING ANDTITL 4 STRUCTUREREF J.BIOL.CHEM. V. 280 1346 2005REFN ISSN 0021-9258PMID 15528182DOI 10.1074/JBC.M410968200 Variant […]
General Structure Information 1lm7 DSP structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure 3.0Å AUTH H.J.CHOI,S.PARK-SNYDER,L.T.PASCOE,K.J.GREEN,AUTH 2 W.I.WEISTITL STRUCTURES OF TWO INTERMEDIATE FILAMENT-BINDINGTITL 2 FRAGMENTS OF DESMOPLAKIN REVEAL A UNIQUE REPEATTITL 3 MOTIF STRUCTURE.REF NAT.STRUCT.BIOL. V. 9 612 2002REFN ISSN 1072-8368PMID 12101406 Variant Set Distributions Ripley’s K Analysis Plots […]
General Structure Information 1efv ETFA three-dimensional structure of human electron transfer flavoprotein to 2.1 a resolution 2.1Å AUTH D.L.ROBERTS,F.E.FRERMAN,J.J.KIMTITL THREE-DIMENSIONAL STRUCTURE OF HUMAN ELECTRONTITL 2 TRANSFER FLAVOPROTEIN TO 2.1-A RESOLUTION.REF PROC.NATL.ACAD.SCI.USA V. 93 14355 1996REFN ISSN 0027-8424PMID 8962055DOI 10.1073/PNAS.93.25.14355 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
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
General Structure Information 2bq8 ACP5 crystal structure of human purple acid phosphatase with an inhibitory conformation of the repression loop 2.2Å AUTH N.STRATER,B.JASPER,M.SCHOLTE,B.KREBS,A.P.DUFF,AUTH 2 D.B.LANGLEY,R.HAN,B.A.AVERILL,H.C.FREEMAN,J.M.GUSSTITL CRYSTAL STRUCTURES OF RECOMBINANT HUMAN PURPLETITL 2 ACID PHOSPHATASE WITH AND WITHOUT AN INHIBITORYTITL 3 CONFORMATION OF THE REPRESSION LOOP.REF J.MOL.BIOL. V. 351 233 2005REFN ISSN 0022-2836PMID 15993892DOI 10.1016/J.JMB.2005.04.014 Variant […]
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 2prt WT1 structure of the wilms tumor suppressor protein zinc finger domain bound to dna 3.15Å AUTH R.STOLL,B.M.LEE,E.W.DEBLER,J.H.LAITY,I.A.WILSON,AUTH 2 H.J.DYSON,P.E.WRIGHTTITL STRUCTURE OF THE WILMS TUMOR SUPPRESSOR PROTEINTITL 2 ZINC FINGER DOMAIN BOUND TO DNAREF J.MOL.BIOL. V. 372 1227 2007REFN ISSN 0022-2836PMID 17716689DOI 10.1016/J.JMB.2007.07.017 Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]