Assessment of Structural Intolerance and Durability
General Structure Information 2cxy ARID1B crystal structure of the hbaf250b at-rich interaction domain (arid) 1.6Å AUTH A.SHIMADA,H.NIWA,S.YOKOYAMATITL CRYSTAL STRUCTURE OF THE HBAF250B AT-RICHTITL 2 INTERACTION DOMAIN (ARID)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2gk9 PIP4K2C human phosphatidylinositol-4-phosphate 5-kinase, type ii, gamma 2.8Å AUTH A.G.THORSELL,J.UPPENBERG,M.HOGBOM,D.OGG,AUTH 2 C.ARROWSMITH,H.BERGLUND,R.COLLINS,A.EDWARDS,M.EHN,AUTH 3 S.FLODIN,A.FLORES,S.GRASLUND,M.HAMMARSTROM,AUTH 4 T.KOTENYOVA,P.NILSSON-EHLE,P.NORDLUND,T.NYMAN,AUTH 5 J.SAGEMARK,P.STENMARK,M.SUNDSTROM,S.VAN DEN BERG,AUTH 6 J.WEIGELT,L.HOLMBERG-SCHIAVONE,C.PERSSON,AUTH 7 B.M.HALLBERGTITL STRUCTURE OF HUMANTITL 2 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPETITL 3 II, GAMMAREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants
General Structure Information 2l0y CHCHD4 complex hmia40-hcox17 -1.0Å AUTH L.BANCI,I.BERTINI,C.CEFARO,L.CENACCHI,S.CIOFI-BAFFONI,AUTH 2 I.C.FELLI,A.GALLO,L.GONNELLI,E.LUCHINAT,D.SIDERIS,AUTH 3 K.TOKATLIDISTITL MOLECULAR CHAPERONE FUNCTION OF MIA40 TRIGGERS CONSECUTIVETITL 2 INDUCED FOLDING STEPS OF THE SUBSTRATE IN MITOCHONDRIALTITL 3 PROTEIN IMPORT.REF PROC.NATL.ACAD.SCI.USA V. 107 20190 2010REFN ISSN 0027-8424PMID 21059946DOI 10.1073/PNAS.1010095107 Variant Set Distributions Mapped Variants
General Structure Information 4emu TMEM173 crystal structure of ligand free human sting 1.9Å AUTH C.SHU,G.YI,T.WATTS,C.C.KAO,P.LITITL STRUCTURE OF STING BOUND TO CYCLIC DI-GMP REVEALS THETITL 2 MECHANISM OF CYCLIC DINUCLEOTIDE RECOGNITION BY THE IMMUNETITL 3 SYSTEM.REF NAT.STRUCT.MOL.BIOL. V. 19 722 2012REFN ISSN 1545-9993PMID 22728658DOI 10.1038/NSMB.2331 Variant Set Distributions Mapped Variants
General Structure Information 2b0o ASAP3 crystal structure of uplc1 gap domain 2.06Å AUTH S.ISMAIL,L.SHEN,C.ARROWSMITH,A.EDWARDS,M.SUNDSTROM,AUTH 2 J.WEIGELT,A.BOCHKAREV,H.PARKTITL STRUCTURAL ANALYSIS OF GAP AND ANKYRIN DOMAINS OFTITL 2 UPLC1REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2lt7 ZBTB33 solution nmr structure of kaiso zinc finger dna binding domain in complex with kaiso binding site dna -1.0Å AUTH B.A.BUCK-KOEHNTOP,R.L.STANFIELD,D.C.EKIERT,AUTH 2 M.A.MARTINEZ-YAMOUT,H.J.DYSON,I.A.WILSON,P.E.WRIGHTTITL MOLECULAR BASIS FOR RECOGNITION OF METHYLATED AND SPECIFICTITL 2 DNA SEQUENCES BY THE ZINC FINGER PROTEIN KAISO.REF PROC.NATL.ACAD.SCI.USA V. 109 15229 2012REFN ISSN 0027-8424PMID 22949637DOI 10.1073/PNAS.1213726109 Variant Set […]
General Structure Information 4gos VTCN1 crystal structure of human b7-h4 igv-like domain 1.59Å AUTH V.VIGDOROVICH,U.RAMAGOPAL,S.G.NATHENSON,S.C.ALMOTITL CRYSTAL STRUCTURE OF HUMAN B7-H4 IGV-LIKE DOMAINREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3zdu CDKL3 crystal structure of the human cdkl3 kinase domain 2.2Å AUTH P.CANNING,J.M.ELKINS,S.GOUBIN,P.MAHAJAN,A.C.W.PIKE,AUTH 2 A.QUIGLEY,A.MACKENZIE,E.P.CARPENTER,F.VON DELFT,AUTH 3 C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,A.BULLOCKTITL CRYSTAL STRUCTURE OF THE HUMAN CDKL3 KINASE DOMAINREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants
General Structure Information 3a4u MCFD2 crystal structure of mcfd2 in complex with carbohydrate recognition domain of ergic-53 1.84Å AUTH M.NISHIO,Y.KAMIYA,T.MIZUSHIMA,S.WAKATSUKI,H.SASAKAWA,AUTH 2 K.YAMAMOTO,S.UCHIYAMA,M.NODA,A.R.MCKAY,K.FUKUI,H.P.HAURI,AUTH 3 K.KATOTITL STRUCTURAL BASIS FOR THE COOPERATIVE INTERPLAY BETWEEN THETITL 2 TWO CAUSATIVE GENE PRODUCTS OF COMBINED FACTOR V AND FACTORTITL 3 VIII DEFICIENCY.REF PROC.NATL.ACAD.SCI.USA V. 107 4034 2010REFN ISSN 0027-8424PMID 20142513DOI 10.1073/PNAS.0908526107 […]
General Structure Information 3bvo HSCB crystal structure of human co-chaperone protein hscb 3.0Å AUTH E.BITTO,C.A.BINGMAN,L.BITTOVA,D.A.KONDRASHOV,R.M.BANNEN,AUTH 2 B.G.FOX,J.L.MARKLEY,G.N.PHILLIPSTITL STRUCTURE OF HUMAN J-TYPE CO-CHAPERONE HSCB REVEALS ATITL 2 TETRACYSTEINE METAL-BINDING DOMAIN.REF J.BIOL.CHEM. V. 283 30184 2008REFN ISSN 0021-9258PMID 18713742DOI 10.1074/JBC.M804746200 Variant Set Distributions Mapped Variants