Assessment of Structural Intolerance and Durability
General Structure Information 1iil FGFR2 crystal structure of pro253arg apert mutant fgf receptor 2 (fgfr2) in complex with fgf2 2.3Å AUTH O.A.IBRAHIMI,A.V.ELISEENKOVA,A.N.PLOTNIKOV,K.YU,AUTH 2 D.M.ORNITZ,M.MOHAMMADITITL STRUCTURAL BASIS FOR FIBROBLAST GROWTH FACTORTITL 2 RECEPTOR 2 ACTIVATION IN APERT SYNDROME.REF PROC.NATL.ACAD.SCI.USA V. 98 7182 2001REFN ISSN 0027-8424PMID 11390973DOI 10.1073/PNAS.121183798 Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]
General Structure Information 2fy5 CHAT structures of ligand bound human choline acetyltransferase provide insight into regulation of acetylcholine synthesis 2.6Å AUTH A.R.KIM,R.J.RYLETT,B.H.SHILTONTITL SUBSTRATE BINDING AND CATALYTIC MECHANISM OF HUMANTITL 2 CHOLINE ACETYLTRANSFERASE.REF BIOCHEMISTRY V. 45 14621 2006REFN ISSN 0006-2960PMID 17144655DOI 10.1021/BI061536L Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants
General Structure Information 3bic MUT crystal structure of human methylmalonyl-coa mutase 2.6Å AUTH D.S.FROESE,G.KOCHAN,J.R.MUNIZ,X.WU,C.GILEADI,E.UGOCHUKWU,AUTH 2 E.KRYSZTOFINSKA,R.A.GRAVEL,U.OPPERMANN,W.W.YUETITL STRUCTURES OF THE HUMAN GTPASE MMAA AND VITAMINTITL 2 B12-DEPENDENT METHYLMALONYL-COA MUTASE AND INSIGHT INTOTITL 3 THEIR COMPLEX FORMATION.REF J.BIOL.CHEM. V. 285 38204 2010REFN ISSN 0021-9258PMID 20876572DOI 10.1074/JBC.M110.177717 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped […]
General Structure Information 1nf1 NF1 the gap related domain of neurofibromin 2.5Å AUTH K.SCHEFFZEK,M.R.AHMADIAN,L.WIESMULLER,W.KABSCH,AUTH 2 P.STEGE,F.SCHMITZ,A.WITTINGHOFERTITL STRUCTURAL ANALYSIS OF THE GAP-RELATED DOMAIN FROMTITL 2 NEUROFIBROMIN AND ITS IMPLICATIONS.REF EMBO J. V. 17 4313 1998REFN ISSN 0261-4189PMID 9687500DOI 10.1093/EMBOJ/17.15.4313 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2y1m CBL structure of native c-cbl 2.67Å AUTH H.DOU,L.BUETOW,A.HOCK,G.J.SIBBET,K.H.VOUSDEN,D.T.HUANGTITL STRUCTURAL BASIS FOR AUTOINHIBITION AND PHOSPHORYLATION-TITL 2 DEPENDENT ACTIVATION OF C-CBL.REF NAT.STRUCT.MOL.BIOL. V. 19 184 2012REFN ISSN 1545-9993PMID 22266821DOI 10.1038/NSMB.2231 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3rgh FLNA structure of filamin a immunoglobulin-like repeat 10 from homo sapiens 2.44Å AUTH R.C.PAGE,J.G.CLARK,S.MISRATITL STRUCTURE OF FILAMIN A IMMUNOGLOBULIN-LIKE REPEAT 10 FROMTITL 2 HOMO SAPIENS.REF ACTA CRYSTALLOGR.,SECT.F V. 67 871 2011REFN ESSN 1744-3091PMID 21821884DOI 10.1107/S1744309111024249 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants
General Structure Information 2e9w KITLG crystal structure of the extracellular domain of kit in complex with stem cell factor (scf) 3.5Å AUTH S.YUZAWA,Y.OPATOWSKY,Z.ZHANG,V.MANDIYAN,I.LAX,J.SCHLESSINGERTITL STRUCTURAL BASIS FOR ACTIVATION OF THE RECEPTOR TYROSINETITL 2 KINASE KIT BY STEM CELL FACTORREF CELL(CAMBRIDGE,MASS.) V. 130 323 2007REFN ISSN 0092-8674PMID 17662946DOI 10.1016/J.CELL.2007.05.055 Variant Set Distributions Ripley’s K Analysis Plots Variant […]
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 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 […]