Assessment of Structural Intolerance and Durability
General Structure Information 3mft CASK cask-4m cam kinase domain, mn2+ 2.2Å AUTH K.MUKHERJEE,M.SHARMA,R.JAHN,M.C.WAHL,T.C.SUDHOFTITL EVOLUTION OF CASK INTO A MG2+-SENSITIVE KINASE.REF SCI.SIGNAL. V. 3 RA33 2010REFN ESSN 1937-9145PMID 20424264DOI 10.1126/SCISIGNAL.2000800 Variant Set Distributions Mapped Variants
General Structure Information 2r0o ACTN4 crystal structure of the actin-binding domain of human alpha-actinin-4 mutant(k255e) 2.2Å AUTH S.H.LEE,A.WEINS,D.B.HAYES,M.R.POLLAK,R.DOMINGUEZTITL CRYSTAL STRUCTURE OF THE ACTIN-BINDING DOMAIN OFTITL 2 ALPHA-ACTININ-4 LYS255GLU MUTANT IMPLICATED IN FOCALTITL 3 SEGMENTAL GLOMERULOSCLEROSIS.REF J.MOL.BIOL. V. 376 317 2008REFN ISSN 0022-2836PMID 18164029DOI 10.1016/J.JMB.2007.11.084 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 1jbi COCH nmr structure of the lccl domain -1.0Å AUTH E.LIEPINSH,M.TREXLER,A.KAIKKONEN,J.WEIGELT,AUTH 2 L.BANYAI,L.PATTHY,G.OTTINGTITL NMR STRUCTURE OF THE LCCL DOMAIN AND IMPLICATIONSTITL 2 FOR DFNA9 DEAFNESS DISORDER.REF EMBO J. V. 20 5347 2001REFN ISSN 0261-4189PMID 11574466DOI 10.1093/EMBOJ/20.19.5347 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants
General Structure Information 1lcy HTRA2 crystal structure of the mitochondrial serine protease htra2 2.0Å AUTH W.LI,S.M.SRINIVASULA,J.CHAI,P.LI,J.W.WU,Z.ZHANG,E.S.ALNEMRI,AUTH 2 Y.SHITITL STRUCTURAL INSIGHTS INTO THE PRO-APOPTOTIC FUNCTION OFTITL 2 MITOCHONDRIAL SERINE PROTEASE HTRA2/OMI.REF NAT.STRUCT.BIOL. V. 9 436 2002REFN ISSN 1072-8368PMID 11967569DOI 10.1038/NSB795 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants
General Structure Information 1nun FGF10 crystal structure analysis of the fgf10-fgfr2b complex 2.9Å AUTH B.K.YEH,M.IGARASHI,A.V.ELISEENKOVA,A.N.PLOTNIKOV,AUTH 2 I.SHER,D.RON,S.A.AARONSON,M.MOHAMMADITITL STRUCTURAL BASIS BY WHICH ALTERNATIVE SPLICINGTITL 2 CONFERS SPECIFICITY IN FIBROBLAST GROWTH FACTORTITL 3 RECEPTORS.REF PROC.NATL.ACAD.SCI.USA V. 100 2266 2003REFN ISSN 0027-8424PMID 12591959DOI 10.1073/PNAS.0436500100 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]
General Structure Information 2a1x PHYH human phytanoyl-coa 2-hydroxylase in complex with iron and 2- oxoglutarate 2.5Å AUTH M.A.MCDONOUGH,K.L.KAVANAGH,D.BUTLER,T.SEARLES,U.OPPERMANN,AUTH 2 C.J.SCHOFIELDTITL STRUCTURE OF HUMAN PHYTANOYL-COA 2-HYDROXYLASE IDENTIFIESTITL 2 MOLECULAR MECHANISMS OF REFSUM DISEASEREF J.BIOL.CHEM. V. 280 41101 2005REFN ISSN 0021-9258PMID 16186124DOI 10.1074/JBC.M507528200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]
General Structure Information 4a9c INPPL1 crystal structure of human ship2 in complex with biphenyl 2,3,4,5,6-pentakisphosphate 2.1Å AUTH S.J.MILLS,C.PERSSON,G.COZIER,M.P.THOMAS,L.TRESAUGUES,AUTH 2 C.ERNEUX,A.M.RILEY,P.NORDLUND,B.V.L.POTTERTITL A SYNTHETIC POLYPHOSPHOINOSITIDE HEADGROUP SURROGATE INTITL 2 COMPLEX WITH SHIP2 PROVIDES A RATIONALE FOR DRUG DISCOVERY.REF ACS CHEM.BIOL. V. 7 822 2012REFN ISSN 1554-8929PMID 22330088DOI 10.1021/CB200494D Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]
General Structure Information 2amy PMM2 x-ray structure of human phosphomannomutase 2 (pmm2) 2.09Å AUTH CENTER FOR EUKARYOTIC STRUCTURAL GENOMICS (CESG)TITL X-RAY STRUCTURE OF HUMAN PHOSPHOMANNOMUTASE 2 (PMM2)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3gkh NPC1 npc1(ntd) 1.81Å AUTH H.J.KWON,L.ABI-MOSLEH,M.L.WANG,J.DEISENHOFER,J.L.GOLDSTEIN,AUTH 2 M.S.BROWN,R.E.INFANTETITL STRUCTURE OF N-TERMINAL DOMAIN OF NPC1 REVEALS DISTINCTTITL 2 SUBDOMAINS FOR BINDING AND TRANSFER OF CHOLESTEROL.REF CELL(CAMBRIDGE,MASS.) V. 137 1213 2009REFN ISSN 0092-8674PMID 19563754DOI 10.1016/J.CELL.2009.03.049 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2wl1 MEFV pyrin pryspry domain 1.35Å AUTH C.WEINERT,C.GRUETTER,H.ROSCHITZKI-VOSER,P.R.MITTL,AUTH 2 M.G.GRUETTERTITL THE CRYSTAL STRUCTURE OF HUMAN PYRIN B30.2 DOMAIN:TITL 2 IMPLICATIONS FOR MUTATIONS ASSOCIATED WITHTITL 3 FAMILIAL MEDITERRANEAN FEVER.REF J.MOL.BIOL. V. 394 226 2009REFN ISSN 0022-2836PMID 19729025DOI 10.1016/J.JMB.2009.08.059 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants