Assessment of Structural Intolerance and Durability
General Structure Information 1wuu GALK1 crystal structure of human galactokinase complexed with mgamppnp and galactose 2.5Å AUTH J.B.THODEN,D.J.TIMSON,R.J.REECE,H.M.HOLDENTITL MOLECULAR STRUCTURE OF HUMAN GALACTOKINASE:TITL 2 IMPLICATIONS FOR TYPE II GALACTOSEMIAREF J.BIOL.CHEM. V. 280 9662 2005REFN ISSN 0021-9258PMID 15590630DOI 10.1074/JBC.M412916200 Variant Set Distributions Mapped Variants
General Structure Information 2h5g ALDH18A1 crystal structure of human pyrroline-5-carboxylate synthetase 2.25Å AUTH E.PAPAGRIGORIOU,N.SHAFQAT,A.P.TURNBULL,G.BERRIDGE,V.HOZJAN,AUTH 2 K.KAVANAGH,O.GILEADI,C.SMEE,J.BRAY,F.GORREC,M.SUNDSTROM,AUTH 3 C.ARROWSMITH,J.WEIGELT,A.EDWARDS,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN PYRROLINE-5-CARBOXYLATETITL 2 SYNTHETASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3p0l STAR human steroidogenic acute regulatory protein 3.4Å AUTH A.G.THORSELL,W.H.LEE,C.PERSSON,M.I.SIPONEN,M.NILSSON,AUTH 2 R.D.BUSAM,T.KOTENYOVA,H.SCHULER,L.LEHTIOTITL COMPARATIVE STRUCTURAL ANALYSIS OF LIPID BINDING STARTTITL 2 DOMAINS.REF PLOS ONE V. 6 19521 2011REFN ESSN 1932-6203PMID 21738568DOI 10.1371/JOURNAL.PONE.0019521 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3c6k SMS crystal structure of human spermine synthase in complex with spermidine and 5-methylthioadenosine 1.95Å AUTH H.WU,J.MIN,H.ZENG,D.E.MCCLOSKEY,Y.IKEGUCHI,AUTH 2 P.LOPPNAU,A.J.MICHAEL,A.E.PEGG,A.N.PLOTNIKOVTITL CRYSTAL STRUCTURE OF HUMAN SPERMINE SYNTHASE:TITL 2 IMPLICATIONS OF SUBSTRATE BINDING AND CATALYTICTITL 3 MECHANISM.REF J.BIOL.CHEM. V. 283 16135 2008REFN ISSN 0021-9258PMID 18367445DOI 10.1074/JBC.M710323200 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3ikm POLG crystal structure of human mitochondrial dna polymerase holoenzyme 3.24Å AUTH Y.S.LEE,W.D.KENNEDY,Y.W.YINTITL STRUCTURAL INSIGHT INTO PROCESSIVE HUMANTITL 2 MITOCHONDRIAL DNA SYNTHESIS AND DISEASE-RELATEDTITL 3 POLYMERASE MUTATIONS.REF CELL(CAMBRIDGE,MASS.) V. 139 312 2009REFN ISSN 0092-8674PMID 19837034DOI 10.1016/J.CELL.2009.07.050 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 1oip TTPA the molecular basis of vitamin e retention: structure of human alpha-tocopherol transfer protein 1.95Å AUTH R.MEIER,T.TOMIZAKI,C.SCHULZE-BRIESE,U.BAUMANN,AUTH 2 A.STOCKERTITL THE MOLECULAR BASIS OF VITAMIN E RETENTION:TITL 2 STRUCTURE OF HUMAN ALPHA-TOCOPHEROL TRANSFERTITL 3 PROTEINREF J.MOL.BIOL. V. 331 725 2003REFN ISSN 0022-2836PMID 12899840DOI 10.1016/S0022-2836(03)00724-1 Variant Set Distributions Ripley’s K Analysis Plots Variant […]
General Structure Information 4nw5 RPS6KA3 rsk2 n-terminal kinase in complex with 2-amino-7-substituted benzoxazole compound 8 1.94Å AUTH A.COSTALES,M.MATHUR,S.RAMURTHY,J.LAN,S.SUBRAMANIAN,R.JAIN,AUTH 2 G.ATALLAH,L.SETTI,M.LINDVALL,B.A.APPLETON,E.ORNELAS,AUTH 3 P.FEUCHT,B.WARNE,L.DOYLE,S.E.BASHAM,I.ARONCHIK,AUTH 4 A.B.JEFFERSON,C.M.SHAFERTITL 2-AMINO-7-SUBSTITUTED BENZOXAZOLE ANALOGS AS POTENT RSK2TITL 2 INHIBITORS.REF BIOORG.MED.CHEM.LETT. V. 24 1592 2014REFN ISSN 0960-894XPMID 24534486DOI 10.1016/J.BMCL.2014.01.058 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]
General Structure Information 2kr6 PSEN1 solution structure of presenilin-1 ctf subunit -1.0Å AUTH V.DOETSCHTITL SOLUTION STRUCTURE OF PRESENILIN-1 CTF SUBUNITREF TO BE PUBLISHEDREFN Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 4ivo PPOX structure of human protoporphyrinogen ix oxidase(r59q) 2.6Å AUTH B.WANG,X.WEN,X.QIN,Z.WANG,Y.TAN,Y.SHEN,Z.XITITL QUANTITATIVE STRUCTURAL INSIGHT INTO HUMAN VARIEGATETITL 2 PORPHYRIA DISEASE.REF J.BIOL.CHEM. V. 288 11731 2013REFN ISSN 0021-9258PMID 23467411DOI 10.1074/JBC.M113.459768 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2o10 CSRP3 solution structure of the n-terminal lim domain of mlp/crp3 -1.0Å AUTH T.SCHALLUS,G.STIER,K.FEHER,C.MUHLE-GOLLTITL STRUCTURE OF THE MUSCULAR LIM PROTEIN MLP AND ITSTITL 2 INTERACTION WITH ACTININREF TO BE PUBLISHEDREFN Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants