Assessment of Structural Intolerance and Durability
General Structure Information 2diz TXNDC5 the solution structure of the third thioredoxin domain of human thioredoxin domain-containing protein 5 -1.0Å AUTH N.TOCHIO,S.KOSHIBA,M.INOUE,T.KIGAWA,S.YOKOYAMATITL THE SOLUTION STRUCTURE OF THE THIRD THIOREDOXINTITL 2 DOMAIN OF HUMAN THIOREDOXIN DOMAIN-CONTAININGTITL 3 PROTEIN 5REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]
General Structure Information 2jii VRK3 structure of vaccinia related kinase 3 2.0Å AUTH E.D.SCHEEFF,J.ESWARAN,G.BUNKOCZI,S.KNAPP,G.MANNINGTITL STRUCTURE OF THE PSEUDOKINASE VRK3 REVEALS A DEGRADEDTITL 2 CATALYTIC SITE, A HIGHLY CONSERVED KINASE FOLD, AND ATITL 3 PUTATIVE REGULATORY BINDING SITE.REF STRUCTURE V. 17 128 2009REFN ISSN 0969-2126PMID 19141289DOI 10.1016/J.STR.2008.10.018 Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]
General Structure Information 2nvu UBA3 structure of appbp1-uba3~nedd8-nedd8-mgatp-ubc12(c111a), a trapped ubiquitin-like protein activation complex 2.8Å AUTH D.T.HUANG,H.W.HUNT,M.ZHUANG,M.D.OHI,J.M.HOLTON,AUTH 2 B.A.SCHULMANTITL BASIS FOR A UBIQUITIN-LIKE PROTEIN THIOESTERTITL 2 SWITCH TOGGLING E1-E2 AFFINITY.REF NATURE V. 445 394 2007REFN ISSN 0028-0836PMID 17220875DOI 10.1038/NATURE05490 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 4ndg APTX human aprataxin (aptx) bound to rna-dna and zn – adenosine vanadate transition state mimic complex 2.54Å AUTH P.TUMBALE,J.S.WILLIAMS,M.J.SCHELLENBERG,T.A.KUNKEL,AUTH 2 R.S.WILLIAMSTITL APRATAXIN RESOLVES ADENYLATED RNA-DNA JUNCTIONS TO MAINTAINTITL 2 GENOME INTEGRITY.REF NATURE V. 506 111 2013REFN ISSN 0028-0836PMID 24362567DOI 10.1038/NATURE12824 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2h00 METTL16 human methyltransferase 10 domain containing protein 2.0Å AUTH H.WU,J.MIN,H.ZENG,P.LOPPNAU,J.WEIGELT,M.SUNDSTROM,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,A.BOCHKAREV,AUTH 3 A.N.PLOTNIKOVTITL THE CRYSTAL STRUCTURE OF HUMAN METHYLTRANSFERASETITL 2 10 DOMAIN CONTAINING PROTEIN.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3ihy PIK3C3 human pik3c3 crystal structure 2.8Å AUTH M.I.SIPONEN,L.TRESAUGUES,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 C.BOUNTRA,R.COLLINS,A.M.EDWARDS,S.FLODIN,A.FLORES,AUTH 3 S.GRASLUND,M.HAMMARSTROM,A.JOHANSSON,I JOHANSSON,AUTH 4 T.KARLBERG,T.KOTENYOVA,A.KOTZSCH,T.KRAGH NIELSEN,AUTH 5 M.MOCHE,T.NYMAN,C.PERSSON,A.K.ROOS,J.SAGEMARK,AUTH 6 H.SCHUELER,P.SCHUTZ,A.G.THORSELL,S.VAN DEN BERG,AUTH 7 J.WEIGELT,M.WELIN,M.WISNIEWSKA,P.NORDLUNDTITL HUMAN PIK3C3 CRYSTAL STRUCTUREREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3g07 MEPCE methyltransferase domain of human bicoid-interacting protein 3 homolog (drosophila) 2.65Å AUTH H.WU,L.DOMBROVSKI,W.TEMPEL,A.MCCARTHY,P.LOPPNAU,AUTH 2 J.MIN,A.N.PLOTNIKOV,H.PARKTITL METHYLTRANSFERASE DOMAIN OF HUMANTITL 2 BICOID-INTERACTING PROTEIN 3 HOMOLOG (DROSOPHILA)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2fmm C11orf30 crystal structure of emsy-hp1 complex 1.8Å AUTH Y.HUANG,M.P.MYERS,R.M.XUTITL CRYSTAL STRUCTURE OF THE HP1-EMSY COMPLEX REVEALS AN UNUSUALTITL 2 MODE OF HP1 BINDING.REF STRUCTURE V. 14 703 2006REFN ISSN 0969-2126PMID 16615912DOI 10.1016/J.STR.2006.01.007 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2f4w UBE2J2 human ubiquitin-conjugating enzyme e2 j2 2.0Å AUTH Y.SHENG,J.H.HONG,R.DOHERTY,T.SRIKUMAR,J.SHLOUSH,AUTH 2 G.V.AVVAKUMOV,J.R.WALKER,S.XUE,D.NECULAI,J.W.WAN,S.K.KIM,AUTH 3 C.H.ARROWSMITH,B.RAUGHT,S.DHE-PAGANONTITL A HUMAN UBIQUITIN CONJUGATING ENZYME (E2)-HECT E3 LIGASETITL 2 STRUCTURE-FUNCTION SCREEN.REF MOL CELL PROTEOMICS V. 11 329 2012REFNPMID 22496338DOI 10.1074/MCP.O111.013706 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 4h8s APPL2 crystal structure of human appl2barph domain 3.5Å AUTH G.J.KING,J.STOCKLI,S.H.HU,B.WINNEN,W.G.DUPREZ,C.C.MEOLI,AUTH 2 J.R.JUNUTULA,R.J.JARROTT,D.E.JAMES,A.E.WHITTEN,J.L.MARTINTITL MEMBRANE CURVATURE PROTEIN EXHIBITS INTERDOMAIN FLEXIBILITYTITL 2 AND BINDS A SMALL GTPASE.REF J.BIOL.CHEM. V. 287 40996 2012REFN ISSN 0021-9258PMID 23055524DOI 10.1074/JBC.M112.349803 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants