Assessment of Structural Intolerance and Durability
General Structure Information 3w3g TLR8 crystal structure of human tlr8 (unliganded form) 2.3Å AUTH H.TANJI,U.OHTO,T.SHIBATA,K.MIYAKE,T.SHIMIZUTITL STRUCTURAL REORGANIZATION OF THE TOLL-LIKE RECEPTOR 8 DIMERTITL 2 INDUCED BY AGONISTIC LIGANDSREF SCIENCE V. 339 1426 2013REFN ISSN 0036-8075PMID 23520111DOI 10.1126/SCIENCE.1229159 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 1wx7 UBQLN3 solution structure of the n-terminal ubiquitin-like domain in the human ubiquilin 3 (ubqln3) -1.0Å AUTH C.ZHAO,K.SAITO,S.KOSHIBA,M.INOUE,T.KIGAWA,AUTH 2 S.YOKOYAMATITL SOLUTION STRUCTURE OF THE N-TERMINALTITL 2 UBIQUITIN-LIKE DOMAIN IN THE HUMAN UBIQUILIN 3TITL 3 (UBQLN3)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]
General Structure Information 2fv7 RBKS crystal structure of human ribokinase 2.1Å AUTH W.M.RABEH,W.TEMPEL,L.NEDYALKOVA,C.ARROWSMITH,A.EDWARDS,AUTH 2 M.SUNDSTROM,J.WEIGELT,A.BOCHKAREV,H.PARK,AUTH 3 STRUCTURAL GENOMICS CONSORTIUM (SGC)TITL CRYSTAL STRUCTURE OF HUMAN RIBOKINASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3s4y TPK1 crystal structure of human thiamin pyrophosphokinase 1 1.8Å AUTH L.SHEN,W.TEMPEL,Y.TONG,Y.LI,J.R.WALKER,C.H.ARROWSMITH,AUTH 2 A.M.EDWARDS,C.BOUNTRA,J.WEIGELT,H.PARKTITL CRYSTAL STRUCTURE OF HUMAN THIAMIN PYROPHOSPHOKINASE 1REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3kjo POT1 crystal structure of hpot1v2-dtrud(agggttag) 1.8Å AUTH J.NANDAKUMAR,E.R.PODELL,T.R.CECHTITL HOW TELOMERIC PROTEIN POT1 AVOIDS RNA TO ACHIEVETITL 2 SPECIFICITY FOR SINGLE-STRANDED DNA.REF PROC.NATL.ACAD.SCI.USA V. 107 651 2010REFN ISSN 0027-8424PMID 20080730DOI 10.1073/PNAS.0911099107 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 4dx1 TRPV4 crystal structure of the human trpv4 ankyrin repeat domain 2.85Å AUTH H.INADA,E.PROCKO,M.SOTOMAYOR,R.GAUDETTITL STRUCTURAL AND BIOCHEMICAL CONSEQUENCES OF DISEASE-CAUSINGTITL 2 MUTATIONS IN THE ANKYRIN REPEAT DOMAIN OF THE HUMAN TRPV4TITL 3 CHANNEL.REF BIOCHEMISTRY V. 51 6195 2012REFN ISSN 0006-2960PMID 22702953DOI 10.1021/BI300279B Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]
General Structure Information 2iqc FANCF crystal structure of human fancf protein that functions in the assembly of a dna damage signaling complex 2.4Å AUTH P.KOWAL,A.M.GURTAN,P.STUCKERT,A.D.DANDREA,AUTH 2 T.ELLENBERGERTITL STRUCTURAL DETERMINANTS OF HUMAN FANCF PROTEINTITL 2 THAT FUNCTION IN THE ASSEMBLY OF A DNA DAMAGETITL 3 SIGNALING COMPLEX.REF J.BIOL.CHEM. V. 282 2047 2007REFN ISSN 0021-9258PMID 17082180DOI 10.1074/JBC.M608356200 […]
General Structure Information 1kqo NMNAT1 crystal structure of nmn/namn adenylyltransferase complexed with deamido-nad 2.5Å AUTH T.ZHOU,O.KURNASOV,D.R.TOMCHICK,D.D.BINNS,N.V.GRISHIN,AUTH 2 V.E.MARQUEZ,A.L.OSTERMAN,H.ZHANGTITL STRUCTURE OF HHUMAN OF NICOTINAMIDE/NICOTINIC ACIDTITL 2 MONONUCLEOTIDE ADENYLYLTRANSFERASE. BASIS FOR THE DUALTITL 3 SUBSTRATE SPECIFICITY AND ACTIVATION OF THE ONCOLYTIC AGENTTITL 4 TIAZOFURIN.REF J.BIOL.CHEM. V. 277 13148 2002REFN ISSN 0021-9258PMID 11788603DOI 10.1074/JBC.M111469200 Variant Set Distributions Ripley’s […]
General Structure Information 4kgh BPIFA1 crystal structure of human splunc1 lacking the secretion signal sequence 2.81Å AUTH A.L.GARLAND,W.G.WALTON,R.D.COAKLEY,C.D.TAN,R.C.GILMORE,AUTH 2 C.A.HOBBS,A.TRIPATHY,L.A.CLUNES,S.BENCHARIT,M.J.STUTTS,AUTH 3 L.BETTS,M.R.REDINBO,R.TARRANTITL MOLECULAR BASIS FOR PH-DEPENDENT MUCOSAL DEHYDRATION INTITL 2 CYSTIC FIBROSIS AIRWAYS.REF PROC.NATL.ACAD.SCI.USA V. 110 15973 2013REFN ISSN 0027-8424PMID 24043776DOI 10.1073/PNAS.1311999110 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]
General Structure Information 4fc6 DECR2 studies on dcr shed new light on peroxisomal beta-oxidation: crystal structure of the ternary complex of pdcr 2.1Å AUTH T.HUA,D.WU,W.DING,J.WANG,N.SHAW,Z.J.LIUTITL STUDIES OF HUMAN 2,4-DIENOYL COA REDUCTASE SHED NEW LIGHT ONTITL 2 PEROXISOMAL BETA-OXIDATION OF UNSATURATED FATTY ACIDSREF J.BIOL.CHEM. V. 287 28956 2012REFN ISSN 0021-9258PMID 22745130DOI 10.1074/JBC.M112.385351 Variant Set Distributions Ripley’s […]