Assessment of Structural Intolerance and Durability
General Structure Information 1zbq HSD17B4 crystal structure of human 17-beta-hydroxysteroid dehydrogenase type 4 in complex with nad 2.71Å AUTH P.LUKACIK,N.SHAFQAT,K.KAVANAGH,J.BRAY,F.VON DELFT,A.EDWARDS,AUTH 2 C.ARROWSMITH,M.SUNDSTROM,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN 17-BETA-HYDROXYSTEROIDTITL 2 DEHYDROGENASE TYPE 4 IN COMPLEX WITH NADREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis 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 4mbs CCR5 crystal structure of the ccr5 chemokine receptor 2.71Å AUTH Q.TAN,Y.ZHU,J.LI,Z.CHEN,G.W.HAN,I.KUFAREVA,T.LI,L.MA,AUTH 2 G.FENALTI,J.LI,W.ZHANG,X.XIE,H.YANG,H.JIANG,V.CHEREZOV,AUTH 3 H.LIU,R.C.STEVENS,Q.ZHAO,B.WUTITL STRUCTURE OF THE CCR5 CHEMOKINE RECEPTOR-HIV ENTRY INHIBITORTITL 2 MARAVIROC COMPLEX.REF SCIENCE V. 341 1387 2013REFN ISSN 0036-8075PMID 24030490DOI 10.1126/SCIENCE.1241475 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 3s95 LIMK1 crystal structure of the human limk1 kinase domain in complex with staurosporine 1.65Å AUTH A.BELTRAMI,A.CHAIKUAD,N.DAGA,J.M.ELKINS,P.MAHAJAN,AUTH 2 P.SAVITSKY,M.VOLLMAR,T.KROJER,J.R.C.MUNIZ,O.FEDOROV,AUTH 3 C.K.ALLERSTON,W.W.YUE,O.GILEADI,F.VON DELFT,C.H.ARROWSMITH,AUTH 4 A.M.EDWARDS,J.WEIGELT,C.BOUNTRA,S.KNAPP,A.BULLOCKTITL CRYSTAL STRUCTURE OF THE HUMAN LIMK1 KINASE DOMAIN INTITL 2 COMPLEX WITH STAUROSPORINEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]
General Structure Information 4fsv HSPA2 crystal structure of a heat shock 70kda protein 2 (hspa2) from homo sapiens at 1.80 a resolution 1.8Å AUTH JOINT CENTER FOR STRUCTURAL GENOMICS (JCSG),AUTH 2 PARTNERSHIP FOR T-CELL BIOLOGY (TCELL)TITL CRYSTAL STRUCTURE OF A HEAT SHOCK 70KDA PROTEIN 2 (HSPA2)TITL 2 FROM HOMO SAPIENS AT 1.80 A RESOLUTIONREF TO […]
General Structure Information 3t7o GYG1 crystal structure of human glycogenin-1 (gyg1) complexed with manganese, udp-glucose and glucose 1.85Å AUTH A.CHAIKUAD,D.S.FROESE,G.BERRIDGE,F.VON DELFT,U.OPPERMANN,AUTH 2 W.W.YUETITL CONFORMATIONAL PLASTICITY OF GLYCOGENIN AND ITSTITL 2 MALTOSACCHARIDE SUBSTRATE DURING GLYCOGEN BIOGENESIS.REF PROC.NATL.ACAD.SCI.USA V. 108 21028 2011REFN ISSN 0027-8424PMID 22160680DOI 10.1073/PNAS.1113921108 Variant Set Distributions Mapped Variants
General Structure Information 2nzt HK2 crystal structure of human hexokinase ii 2.45Å AUTH W.M.RABEH,H.ZHU,L.NEDYALKOVA,W.TEMPEL,G.WASNEY,AUTH 2 R.LANDRY,M.VEDADI,C.H.ARROWSMITH,A.M.EDWARDS,AUTH 3 M.SUNDSTROM,J.WEIGELT,A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF HUMAN HEXOKINASE IIREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 1wyp CNN1 solution structure of the ch domain of human calponin 1 -1.0Å AUTH T.TOMIZAWA,T.KIGAWA,S.KOSHIBA,M.INOUE,S.YOKOYAMATITL SOLUTION STRUCTURE OF THE CH DOMAIN OF HUMANTITL 2 CALPONIN 1REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants