Assessment of Structural Intolerance and Durability
General Structure Information 4fdj GALNS the molecular basis of mucopolysaccharidosis iv a, complex with galnac 2.81Å AUTH Y.RIVERA-COLON,E.K.SCHUTSKY,A.Z.KITA,S.C.GARMANTITL THE STRUCTURE OF HUMAN GALNS REVEALS THE MOLECULAR BASIS FORTITL 2 MUCOPOLYSACCHARIDOSIS IV A.REF J.MOL.BIOL. V. 423 736 2012REFN ISSN 0022-2836PMID 22940367DOI 10.1016/J.JMB.2012.08.020 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants
General Structure Information 2w86 FBN1 crystal structure of fibrillin-1 domains cbegf9hyb2cbegf10, calcium saturated form 1.8Å AUTH S.A.JENSEN,S.IQBAL,E.D.LOWE,C.REDFIELD,P.A.HANDFORDTITL STRUCTURE AND INTERDOMAIN INTERACTIONS OF A HYBRIDTITL 2 DOMAIN: A DISULPHIDE-RICH MODULE OF THETITL 3 FIBRILLIN/LTBP SUPERFAMILY OF MATRIX PROTEINS.REF STRUCTURE V. 17 759 2009REFN ISSN 0969-2126PMID 19446531DOI 10.1016/J.STR.2009.03.014 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3rbn MLH1 crystal structure of mutl protein homolog 1 isoform 1 [homo sapiens] 2.16Å AUTH L.DOMBROVSKY,A.DONG,A.WERNIMONT,P.LOPPNAU,C.BOUNTRA,AUTH 2 J.WEIGELT,C.H.ARROWSMITH,A.M.EDWARDS,J.MIN,H.WUTITL CRYSTAL STRUCTURE OF MUTL PROTEIN HOMOLOG 1 ISOFORM 1 [HOMOTITL 2 SAPIENS]REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3w82 IDUA human alpha-l-iduronidase in complex with iduronic acid 2.76Å AUTH N.MAITA,T.TSUKIMURA,T.TANIGUCHI,S.SAITO,K.OHNO,H.TANIGUCHI,AUTH 2 H.SAKURABATITL HUMAN ALPHA-L-IDURONIDASE USES ITS OWN N-GLYCAN AS ATITL 2 SUBSTRATE-BINDING AND CATALYTIC MODULEREF PROC.NATL.ACAD.SCI.USA V. 110 14628 2013REFN ISSN 0027-8424PMID 23959878DOI 10.1073/PNAS.1306939110 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants
General Structure Information 1yvl STAT1 structure of unphosphorylated stat1 3.0Å AUTH X.MAO,Z.REN,G.N.PARKER,H.SONDERMANN,M.A.PASTORELLO,AUTH 2 W.WANG,J.S.MCMURRAY,B.DEMELER,J.E.DARNELL,X.CHENTITL STRUCTURAL BASES OF UNPHOSPHORYLATED STAT1TITL 2 ASSOCIATION AND RECEPTOR BINDING.REF MOL.CELL V. 17 761 2005REFN ISSN 1097-2765PMID 15780933DOI 10.1016/J.MOLCEL.2005.02.021 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3dzy PPARG intact ppar gamma – rxr alpha nuclear receptor complex on dna bound with rosiglitazone, 9-cis retinoic acid and ncoa2 peptide 3.1Å AUTH V.CHANDRA,P.HUANG,Y.HAMURO,S.RAGHURAM,Y.WANG,T.P.BURRIS,AUTH 2 F.RASTINEJADTITL STRUCTURE OF THE INTACT PPAR-GAMMA-RXR- NUCLEAR RECEPTORTITL 2 COMPLEX ON DNA.REF NATURE V. 456 350 2008REFN ISSN 0028-0836PMID 19043829DOI 10.1038/NATURE07413 Variant Set Distributions Ripley’s K […]
General Structure Information 4mle GCK human glucokinase in complex with novel amino thiazole activator 2.6Å AUTH R.J.HINKLIN,S.A.BOYD,M.J.CHICARELLI,K.R.CONDROSKI,AUTH 2 W.E.DEWOLF,P.A.LEE,W.LEE,A.SINGH,L.THOMAS,W.C.VOEGTLI,AUTH 3 L.WILLIAMS,T.D.AICHERTITL IDENTIFICATION OF A NEW CLASS OF GLUCOKINASE ACTIVATORSTITL 2 THROUGH STRUCTURE-BASED DESIGN.REF J.MED.CHEM. V. 56 7669 2013REFN ISSN 0022-2623PMID 24015910DOI 10.1021/JM401116K Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]
General Structure Information 3rch DDC crystal structure of human aromatic l-amino acid decarboxylase (aadc) in the open conformation with llp and plp bound to chain-a and chain- b respectively 2.8Å AUTH G.GIARDINA,R.MONTIOLI,S.GIANNI,B.CELLINI,A.PAIARDINI,AUTH 2 C.B.VOLTATTORNI,F.CUTRUZZOLATITL OPEN CONFORMATION OF HUMAN DOPA DECARBOXYLASE REVEALS THETITL 2 MECHANISM OF PLP ADDITION TO GROUP II DECARBOXYLASES.REF PROC.NATL.ACAD.SCI.USA V. 108 20514 […]
General Structure Information 1iil FGFR2 crystal structure of pro253arg apert mutant fgf receptor 2 (fgfr2) in complex with fgf2 2.3Å AUTH O.A.IBRAHIMI,A.V.ELISEENKOVA,A.N.PLOTNIKOV,K.YU,AUTH 2 D.M.ORNITZ,M.MOHAMMADITITL STRUCTURAL BASIS FOR FIBROBLAST GROWTH FACTORTITL 2 RECEPTOR 2 ACTIVATION IN APERT SYNDROME.REF PROC.NATL.ACAD.SCI.USA V. 98 7182 2001REFN ISSN 0027-8424PMID 11390973DOI 10.1073/PNAS.121183798 Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]
General Structure Information 3ezq FAS crystal structure of the fas/fadd death domain complex 2.73Å AUTH F.L.SCOTT,B.STEC,C.POP,M.K.DOBACZEWSKA,J.J.LEE,E.MONOSOV,AUTH 2 H.ROBINSON,G.S.SALVESEN,R.SCHWARZENBACHER,S.J.RIEDLTITL THE FAS-FADD DEATH DOMAIN COMPLEX STRUCTURE UNRAVELSTITL 2 SIGNALLING BY RECEPTOR CLUSTERINGREF NATURE V. 457 1019 2009REFN ISSN 0028-0836PMID 19118384DOI 10.1038/NATURE07606 Variant Set Distributions Mapped Variants