Assessment of Structural Intolerance and Durability
General Structure Information 2jbm QPRT qprtase structure from human 2.0Å AUTH H.LIU,K.WOZNICA,G.CATTON,A.CRAWFORD,N.BOTTINF,AUTH 2 J.H.NAISMITHTITL STRUCTURAL AND KINETIC CHARACTERIZATION OFTITL 2 QUINOLINATE PHOSPHORIBOSYLTRANSFERASE (HQPRTASE)TITL 3 FROM HOMO SAPIENS.REF J.MOL.BIOL. V. 373 755 2007REFN ISSN 0022-2836PMID 17868694DOI 10.1016/J.JMB.2007.08.043 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3ecs EIF2B1 crystal structure of human eif2b alpha 2.65Å AUTH T.B.HIYAMA,T.ITO,H.IMATAKA,S.YOKOYAMATITL CRYSTAL STRUCTURE OF THE ALPHA SUBUNIT OF HUMAN TRANSLATIONTITL 2 INITIATION FACTOR 2BREF J.MOL.BIOL. V. 392 937 2009REFN ISSN 0022-2836PMID 19631657DOI 10.1016/J.JMB.2009.07.054 Variant Set Distributions Mapped Variants
General Structure Information 4ku8 PRKG1 structures of pkgi reveal a cgmp-selective activation mechanism 1.99Å AUTH G.Y.HUANG,J.J.KIM,A.S.REGER,R.LORENZ,E.W.MOON,C.ZHAO,AUTH 2 D.E.CASTEEL,D.BERTINETTI,B.VANSCHOUWEN,R.SELVARATNAM,AUTH 3 J.W.PFLUGRATH,B.SANKARAN,G.MELACINI,F.W.HERBERG,C.KIMTITL STRUCTURAL BASIS FOR CYCLIC-NUCLEOTIDE SELECTIVITY ANDTITL 2 CGMP-SELECTIVE ACTIVATION OF PKG I.REF STRUCTURE V. 22 116 2014REFN ISSN 0969-2126PMID 24239458DOI 10.1016/J.STR.2013.09.021 Variant Set Distributions Mapped Variants
General Structure Information 2vr2 DPYS human dihydropyrimidinase 2.8Å AUTH M.WELIN,T.KARLBERG,J.ANDERSSON,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 R.D.BUSAM,R.COLLINS,L.G.DAHLGREN,A.M.EDWARDS,S.FLODIN,AUTH 3 A.FLORES,S.GRASLUND,M.HAMMARSTROM,M.D.HERMAN,I.JOHANSSON,AUTH 4 A.KALLAS,T.KOTENYOVA,L.LEHTIO,M.MOCHE,M.E.NILSSON,T.NYMAN,AUTH 5 C.PERSSON,J.SAGEMARK,L.SVENSSON,A.G.THORSELL,L.TRESAUGUES,AUTH 6 S.VAN DEN BERG,J.WEIGELT,M.WIKSTROM,P.NORDLUNDTITL THE CRYSTAL STRUCTURE OF HUMAN DIHYDROPYRIMIDINASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2vr2 DPYS human dihydropyrimidinase 2.8Å AUTH M.WELIN,T.KARLBERG,J.ANDERSSON,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 R.D.BUSAM,R.COLLINS,L.G.DAHLGREN,A.M.EDWARDS,S.FLODIN,AUTH 3 A.FLORES,S.GRASLUND,M.HAMMARSTROM,M.D.HERMAN,I.JOHANSSON,AUTH 4 A.KALLAS,T.KOTENYOVA,L.LEHTIO,M.MOCHE,M.E.NILSSON,T.NYMAN,AUTH 5 C.PERSSON,J.SAGEMARK,L.SVENSSON,A.G.THORSELL,L.TRESAUGUES,AUTH 6 S.VAN DEN BERG,J.WEIGELT,M.WIKSTROM,P.NORDLUNDTITL THE CRYSTAL STRUCTURE OF HUMAN DIHYDROPYRIMIDINASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2vr2 DPYS human dihydropyrimidinase 2.8Å AUTH M.WELIN,T.KARLBERG,J.ANDERSSON,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 R.D.BUSAM,R.COLLINS,L.G.DAHLGREN,A.M.EDWARDS,S.FLODIN,AUTH 3 A.FLORES,S.GRASLUND,M.HAMMARSTROM,M.D.HERMAN,I.JOHANSSON,AUTH 4 A.KALLAS,T.KOTENYOVA,L.LEHTIO,M.MOCHE,M.E.NILSSON,T.NYMAN,AUTH 5 C.PERSSON,J.SAGEMARK,L.SVENSSON,A.G.THORSELL,L.TRESAUGUES,AUTH 6 S.VAN DEN BERG,J.WEIGELT,M.WIKSTROM,P.NORDLUNDTITL THE CRYSTAL STRUCTURE OF HUMAN DIHYDROPYRIMIDINASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3kzd TIAM1 crystal structure of free t-cell lymphoma invasion and metastasis-1 pdz domain 1.3Å AUTH T.R.SHEPHERD,S.M.KLAUS,X.LIU,S.RAMASWAMY,K.A.DEMALI,AUTH 2 E.J.FUENTESTITL THE TIAM1 PDZ DOMAIN COUPLES TO SYNDECAN1 AND PROMOTESTITL 2 CELL-MATRIX ADHESION.REF J.MOL.BIOL. V. 398 730 2010REFN ISSN 0022-2836PMID 20361982DOI 10.1016/J.JMB.2010.03.047 Variant Set Distributions Mapped Variants
General Structure Information 1xdv SOS1 experimentally phased structure of human the son of sevenless protein at 4.1 ang. 4.1Å AUTH H.SONDERMANN,S.M.SOISSON,S.BOYKEVISCH,S.S.YANG,AUTH 2 D.BAR-SAGI,J.KURIYANTITL STRUCTURAL ANALYSIS OF AUTOINHIBITION IN THE RASTITL 2 ACTIVATOR SON OF SEVENLESS.REF CELL(CAMBRIDGE,MASS.) V. 119 393 2004REFN ISSN 0092-8674PMID 15507210DOI 10.1016/J.CELL.2004.10.005 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped […]
General Structure Information 2kmv ATP7A solution structure of the nucleotide binding domain of the human menkes protein in the atp-free form -1.0Å AUTH L.BANCI,I.BERTINI,F.CANTINI,S.INAGAKI,M.MIGLIARDI,AUTH 2 A.ROSATOTITL THE BINDING MODE OF ATP REVEALED BY THE SOLUTIONTITL 2 STRUCTURE OF THE N-DOMAIN OF HUMAN ATP7A.REF J.BIOL.CHEM. 2009REFN ESSN 1083-351XPMID 19917612DOI 10.1074/JBC.M109.054262 Variant Set Distributions Mapped Variants
General Structure Information 3jui EIF2B5 crystal structure of the c-terminal domain of human translation initiation factor eif2b epsilon subunit 2.0Å AUTH J.WEI,H.XU,C.ZHANG,M.WANG,F.GAO,W.GONGTITL CRYSTAL STRUCTURE OF THE C-TERMINAL DOMAIN OF HUMANTITL 2 TRANSLATION INITIATION FACTOR EIF2B EPSILON SUBUNITREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants