Assessment of Structural Intolerance and Durability
General Structure Information 2w18 PALB2 crystal structure of the c-terminal wd40 domain of human palb2 1.9Å AUTH A.W.OLIVER,S.SWIFT,C.J.LORD,A.ASHWORTH,L.H.PEARLTITL STRUCTURAL BASIS FOR RECRUITMENT OF BRCA2 BY PALB2REF EMBO REP. V. 10 990 2009REFN ISSN 1469-221XPMID 19609323DOI 10.1038/EMBOR.2009.126 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants
General Structure Information 3gcw PCSK9 pcsk9:egfa(h306y) 2.7Å AUTH M.C.MCNUTT,H.J.KWON,C.CHEN,J.R.CHEN,J.D.HORTON,T.A.LAGACETITL ANTAGONISM OF SECRETED PCSK9 INCREASES LOW DENSITYTITL 2 LIPOPROTEIN RECEPTOR EXPRESSION IN HEPG2 CELLS.REF J.BIOL.CHEM. V. 284 10561 2009REFN ISSN 0021-9258PMID 19224862DOI 10.1074/JBC.M808802200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants
General Structure Information 2pla GPD1L crystal structure of human glycerol-3-phosphate dehydrogenase 1-like protein 2.51Å AUTH J.UPPENBERG,C.SMEE,V.HOZJAN,K.KAVANAGH,G.BUNKOCZI,AUTH 2 E.PAPAGRIGORIOU,A.C.W.PIKE,E.UGOCHUKWU,C.UMEANO,F.VON DELFT,AUTH 3 J.WEIGELT,C.H.ARROWSMITH,A.EDWARDS,M.SUNDSTROM,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN GLYCEROL-3-PHOSPHATETITL 2 DEHYDROGENASE 1-LIKE PROTEIN.REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants
General Structure Information 2ycu MYH14 crystal structure of human non muscle myosin 2c in pre-power stroke state 2.25Å AUTH K.CHINTHALAPUDI,S.M.HEISSLER,D.J.MANSTEINTITL CRYSTAL STRUCTURE OF HUMAN NON MUSCLE MYOSIN 2C INTITL 2 PRE-POWER STROKE STATEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants
General Structure Information 3u1k PNPT1 crystal structure of human pnpase 2.13Å AUTH C.L.LIN,Y.-T.WANG,W.-Z.YANG,Y.-Y.HSIAO,H.S.YUANTITL CRYSTAL STRUCTURE OF HUMAN POLYNUCLEOTIDE PHOSPHORYLASE:TITL 2 INSIGHTS INTO ITS DOMAIN FUNCTION IN RNA BINDING ANDTITL 3 DEGRADATIONREF NUCLEIC ACIDS RES. V. 40 4146 2012REFN ISSN 0305-1048PMID 22210891DOI 10.1093/NAR/GKR1281 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]
General Structure Information 2wt8 MCPH1 structure of the n-terminal brct domain of human microcephalin (mcph1) 1.6Å AUTH M.W.RICHARDS,J.W.C.LEUNG,S.M.ROE,J.CHEN,R.BAYLISSTITL A POCKET ON THE SURFACE OF THE N-TERMINAL BRCTTITL 2 DOMAIN OF MCPH1 IS REQUIRED TO PREVENT ABNORMALTITL 3 CHROMOSOME CONDENSATION.REF J.MOL.BIOL. V. 395 908 2010REFN ISSN 0022-2836PMID 19925808DOI 10.1016/J.JMB.2009.11.029 Variant Set Distributions Pathogenic Proximity Analysis Mapped […]
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 3hf1 RRM2B crystal structure of human p53r2 2.6Å AUTH P.SMITH,B.ZHOU,N.HO,Y.C.YUAN,L.SU,S.C.TSAI,Y.YENTITL 2.6 A X-RAY CRYSTAL STRUCTURE OF HUMAN P53R2, ATITL 2 P53-INDUCIBLE RIBONUCLEOTIDE REDUCTASE .REF BIOCHEMISTRY V. 48 11134 2009REFN ISSN 0006-2960PMID 19728742DOI 10.1021/BI9001425 Variant Set Distributions 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 3bpt HIBCH crystal structure of human beta-hydroxyisobutyryl-coa hydrolase in complex with quercetin 1.5Å AUTH E.S.PILKA,C.PHILLIPS,O.N.F.KING,K.GUO,F.VON DELFT,AUTH 2 A.C.W.PIKE,C.H.ARROWSMITH,J.WEIGELT,A.M.EDWARDS,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN BETA-HYDROXYISOBUTYRYL-COATITL 2 HYDROLASE IN COMPLEX WITH QUERCETIN.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants