Assessment of Structural Intolerance and Durability
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 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 3qd6 CD40LG crystal structure of the cd40 and cd154 (cd40l) complex 3.5Å AUTH H.-J.AN,Y.J.KIM,D.H.SONG,B.S.PARK,H.M.KIM,J.D.LEE,S.-G.PAIK,AUTH 2 J.-O.LEE,H.LEETITL CRYSTALLOGRAPHIC AND MUTATIONAL ANALYSIS OF THE CD40-CD154TITL 2 COMPLEX AND ITS IMPLICATIONS FOR RECEPTOR ACTIVATIONREF J.BIOL.CHEM. V. 286 11226 2011REFN ISSN 0021-9258PMID 21285457DOI 10.1074/JBC.M110.208215 Variant Set Distributions Mapped Variants
General Structure Information 3w1w FECH protein-drug complex 2.01Å AUTH V.GUPTA,S.LIU,H.ANDO,R.ISHII,S.TATENO,Y.KANEKO,M.YUGAMI,AUTH 2 S.SAKAMOTO,Y.YAMAGUCHI,O.NUREKI,H.HANDATITL SALICYLIC ACID INDUCES MITOCHONDRIAL INJURY BY INHIBITINGTITL 2 FERROCHELATASE HEME BIOSYNTHESIS ACTIVITYREF MOL.PHARMACOL. V. 84 824 2013REFN ISSN 0026-895XPMID 24043703DOI 10.1124/MOL.113.087940 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
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 […]
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 […]