Assessment of Structural Intolerance and Durability
General Structure Information 2wfn FLNA filamin a actin binding domain 3.2Å AUTH S.RUSKAMO,J.YLANNETITL STRUCTURE OF THE HUMAN FILAMIN A ACTIN-BINDING DOMAINREF ACTA CRYSTALLOGR.,SECT.D V. 65 1217 2009REFN ISSN 0907-4449PMID 19923718DOI 10.1107/S0907444909037330 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2zw3 GJB2 structure of the connexin-26 gap junction channel at 3.5 angstrom resolution 3.5Å AUTH S.MAEDA,S.NAKAGAWA,M.SUGA,E.YAMASHITA,A.OSHIMA,AUTH 2 Y.FUJIYOSHI,T.TSUKIHARATITL STRUCTURE OF THE CONNEXIN 26 GAP JUNCTION CHANNELTITL 2 AT 3.5 A RESOLUTIONREF NATURE V. 458 597 2009REFN ISSN 0028-0836PMID 19340074DOI 10.1038/NATURE07869 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]
General Structure Information 2yob AGXT high resolution agxt_m structure 1.9Å AUTH N.MESA-TORRES,I.FABELO-ROSA,D.RIVEROL,C.YUNTA,A.ALBERT,AUTH 2 E.SALIDO,A.L.PEYTITL THE ROLE OF PROTEIN DENATURATION ENERGETICS AND MOLECULARTITL 2 CHAPERONES IN THE AGGREGATION AND MISTARGETING OF MUTANTSTITL 3 CAUSING PRIMARY HYPEROXALURIA TYPE IREF PLOS ONE V. 8 71963 2013REFN ISSN 1932-6203PMID 24205397DOI 10.1371/JOURNAL.PONE.0071963 Variant Set Distributions Ripley’s K Analysis Plots Variant […]
General Structure Information 4m9p FLNA crystal structure of the human filamin a ig-like domains 3-5 1.72Å AUTH R.SETHI,J.SEPPALA,H.TOSSAVAINEN,M.YLILAURI,S.RUSKAMO,AUTH 2 O.T.PENTIKAINEN,U.PENTIKAINEN,P.PERMI,J.YLANNETITL A NOVEL STRUCTURAL UNIT IN THE N-TERMINAL REGION OFTITL 2 FILAMINS.REF J.BIOL.CHEM. V. 289 8588 2014REFN ISSN 0021-9258PMID 24469451DOI 10.1074/JBC.M113.537456 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3epz DNMT1 structure of the replication foci-targeting sequence of human dna cytosine methyltransferase dnmt1 2.31Å AUTH F.SYEDA,R.L.FAGAN,M.WEAN,G.V.AVVAKUMOV,J.R.WALKER,S.XUE,AUTH 2 S.DHE-PAGANON,C.BRENNERTITL THE REPLICATION FOCUS TARGETING SEQUENCE (RFTS) DOMAIN IS ATITL 2 DNA-COMPETITIVE INHIBITOR OF DNMT1.REF J.BIOL.CHEM. V. 286 15344 2011REFN ISSN 0021-9258PMID 21389349DOI 10.1074/JBC.M110.209882 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]
General Structure Information 2m6i GLRA1 putative pentameric open-channel structure of full-length transmembrane domains of human glycine receptor alpha1 subunit -1.0Å AUTH D.D.MOWREY,T.CUI,Y.JIA,D.MA,A.M.MAKHOV,P.ZHANG,P.TANG,Y.XUTITL OPEN-CHANNEL STRUCTURES OF THE HUMAN GLYCINE RECEPTOR ALPHATITL 2 1 FULL-LENGTH TRANSMEMBRANE DOMAIN.REF STRUCTURE V. 21 1897 2013REFN ISSN 0969-2126PMID 23994010DOI 10.1016/J.STR.2013.07.014 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]
General Structure Information 1ry7 FGFR3 crystal structure of the 3 ig form of fgfr3c in complex with fgf1 3.2Å AUTH S.K.OLSEN,O.A.IBRAHIMI,A.RAUCCI,F.ZHANG,AUTH 2 A.V.ELISEENKOVA,A.YAYON,C.BASILICO,R.J.LINHARDT,AUTH 3 J.SCHLESSINGER,M.MOHAMMADITITL INSIGHTS INTO THE MOLECULAR BASIS FOR FIBROBLASTTITL 2 GROWTH FACTOR RECEPTOR AUTOINHIBITION ANDTITL 3 LIGAND-BINDING PROMISCUITY.REF PROC.NATL.ACAD.SCI.USA V. 101 935 2004REFN ISSN 0027-8424PMID 14732692DOI 10.1073/PNAS.0307287101 Variant Set Distributions Ripley’s K […]
General Structure Information 6pax PAX6 crystal structure of the human pax-6 paired domain-dna complex reveals a general model for pax protein-dna interactions 2.5Å AUTH H.E.XU,M.A.ROULD,W.XU,J.A.EPSTEIN,R.L.MAAS,C.O.PABOTITL CRYSTAL STRUCTURE OF THE HUMAN PAX6 PAIREDTITL 2 DOMAIN-DNA COMPLEX REVEALS SPECIFIC ROLES FOR THETITL 3 LINKER REGION AND CARBOXY-TERMINAL SUBDOMAIN INTITL 4 DNA BINDING.REF GENES DEV. V. 13 1263 […]
General Structure Information 3di2 IL7R crystal structure of the complex of human interleukin-7 with unglycosylated human interleukin-7 receptor alpha ectodomain 2.7Å AUTH C.A.MCELROY,J.A.DOHM,S.T.WALSHTITL STRUCTURAL AND BIOPHYSICAL STUDIES OF THE HUMANTITL 2 IL-7/IL-7RALPHA COMPLEX.REF STRUCTURE V. 17 54 2009REFN ISSN 0969-2126PMID 19141282DOI 10.1016/J.STR.2008.10.019 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]
General Structure Information 3cxl CHN1 crystal structure of human chimerin 1 (chn1) 2.6Å AUTH L.SHEN,M.BUCK,Y.TONG,W.TEMPEL,F.MACKENZIE,C.H.ARROWSMITH,AUTH 2 A.M.EDWARDS,C.BOUNTRA,M.WILKSTROM,A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF HUMAN CHIMERIN 1 (CHN1).REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants