Assessment of Structural Intolerance and Durability
General Structure Information 3cz9 PARK7 crystal structure of e18l dj-1 1.15Å AUTH A.C.WITT,M.LAKSHMINARASIMHAN,B.C.REMINGTON,S.HASIM,AUTH 2 E.POZHARSKI,M.A.WILSONTITL CYSTEINE PKA DEPRESSION BY A PROTONATED GLUTAMICTITL 2 ACID IN HUMAN DJ-1.REF BIOCHEMISTRY V. 47 7430 2008REFN ISSN 0006-2960PMID 18570440DOI 10.1021/BI800282D Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 1ou5 TRNT1 crystal structure of human cca-adding enzyme 3.4Å AUTH M.A.AUGUSTIN,A.S.REICHERT,H.BETAT,R.HUBER,M.MOERL,AUTH 2 C.STEEGBORNTITL CRYSTAL STRUCTURE OF THE HUMAN CCA-ADDING ENZYME:TITL 2 INSIGHTS INTO TEMPLATE-INDEPENDENT POLYMERIZATIONREF J.MOL.BIOL. V. 328 985 2003REFN ISSN 0022-2836PMID 12729736DOI 10.1016/S0022-2836(03)00381-4 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants
General Structure Information 3rmu MCEE crystal structure of human methylmalonyl-coa epimerase, mcee 1.8Å AUTH A.CHAIKUAD,E.KRYSZTOFINSKA,D.S.FROESE,W.W.YUE,M.VOLLMAR,AUTH 2 J.R.C.MUNIZ,F.VON DELFT,J.WEIGELT,C.H.ARROWSMITH,AUTH 3 A.M.EDWARDS,C.BOUNTRA,U.OPPERMANN,AUTH 4 STRUCTURAL GENOMICS CONSORTIUM (SGC)TITL CRYSTAL STRUCTURE OF HUMAN METHYLMALONYL-COA EPIMERASE, MCEEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2cn1 NT5C3A crystal structure of human cytosolic 5-nucleotidase iii ( nt5c3)(casp target) 2.67Å AUTH K.WALLDEN,P.STENMARK,T.NYMAN,S.FLODIN,S.GRASLUND,P.LOPPNAU,AUTH 2 V.BIANCHI,P.NORDLUNDTITL CRYSTAL STRUCTURE OF HUMAN CYTOSOLIC 5-NUCLEOTIDASE II:TITL 2 INSIGHTS INTO ALLOSTERIC REGULATION AND SUBSTRATETITL 3 RECOGNITION.REF J.BIOL.CHEM. V. 282 17828 2007REFN ISSN 0021-9258PMID 17405878DOI 10.1074/JBC.M700917200 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 1s18 CANT1 structure and protein design of human apyrase 1.7Å AUTH J.DAI,J.LIU,Y.DENG,T.M.SMITH,M.LUTITL STRUCTURE AND PROTEIN DESIGN OF A HUMAN PLATELETTITL 2 FUNCTION INHIBITOR.REF CELL(CAMBRIDGE,MASS.) V. 116 649 2004REFN ISSN 0092-8674PMID 15006348DOI 10.1016/S0092-8674(04)00172-2 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 1ey2 HGD human homogentisate dioxygenase with fe(ii) 2.3Å AUTH G.P.TITUS,H.A.MUELLER,J.BURGNER,S.RODRIGUEZ DE CORDOBA,AUTH 2 M.A.PENALVA,D.E.TIMMTITL CRYSTAL STRUCTURE OF HUMAN HOMOGENTISATE DIOXYGENASE.REF NAT.STRUCT.BIOL. V. 7 542 2000REFN ISSN 1072-8368PMID 10876237DOI 10.1038/76756 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2idx MMAB structure of human atp:cobalamin adenosyltransferase bound to atp. 2.5Å AUTH H.L.SCHUBERT,C.P.HILLTITL STRUCTURE OF ATP-BOUND HUMAN ATP:COBALAMINTITL 2 ADENOSYLTRANSFERASE.REF BIOCHEMISTRY V. 45 15188 2006REFN ISSN 0006-2960PMID 17176040DOI 10.1021/BI061396F Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 4ido ATL1 human atlastin-1 1-446, c-his6, gdpalf4- 2.09Å AUTH L.J.BYRNES,A.SINGH,K.SZETO,N.M.BENVIN,J.P.ODONNELL,AUTH 2 W.R.ZIPFEL,H.SONDERMANNTITL STRUCTURAL BASIS FOR CONFORMATIONAL SWITCHING AND GTPTITL 2 LOADING OF THE LARGE G PROTEIN ATLASTIN.REF EMBO J. V. 32 369 2013REFN ISSN 0261-4189PMID 23334294DOI 10.1038/EMBOJ.2012.353 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants
General Structure Information 4jhn RPGR the crystal structure of the rpgr rcc1-like domain 1.7Å AUTH D.WATZLICH,I.VETTER,K.GOTTHARDT,M.MIERTZSCHKE,Y.X.CHEN,AUTH 2 A.WITTINGHOFER,S.ISMAILTITL THE INTERPLAY BETWEEN RPGR, PDE-DELTA AND ARL2/3 REGULATETITL 2 THE CILIARY TARGETING OF FARNESYLATED CARGO.REF EMBO REP. V. 14 465 2013REFN ISSN 1469-221XPMID 23559067DOI 10.1038/EMBOR.2013.37 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]
General Structure Information 3tjo HTRA1 htra1 catalytic domain, mutationally inactivated 2.3Å AUTH C.EIGENBROT,M.ULTSCH,M.T.LIPARI,P.MORAN,S.J.LIN,R.GANESAN,AUTH 2 C.QUAN,J.TOM,W.SANDOVAL,M.VAN LOOKEREN CAMPAGNE,D.KIRCHHOFERTITL STRUCTURAL AND FUNCTIONAL ANALYSIS OF HTRA1 AND ITSTITL 2 SUBDOMAINS.REF STRUCTURE V. 20 1040 2012REFN ISSN 0969-2126PMID 22578544DOI 10.1016/J.STR.2012.03.021 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants