1V16.A | BCKDHA

General Structure Information 1v16 BCKDHA crosstalk between cofactor binding and the phosphorylation loop conformation in the bckd machine 1.9Å AUTH J.LI,R.M.WYNN,M.MACHIUS,J.L.CHUANG,S.KARTHIKEYAN,AUTH 2 D.R.TOMCHICK,D.T.CHUANGTITL CROSS-TALK BETWEEN THIAMIN DIPHOSPHATE BINDING ANDTITL 2 PHOSPHORYLATION LOOP CONFORMATION IN HUMAN BRANCHED-CHAINTITL 3 {ALPHA}-KETO ACID DECARBOXYLASE/DEHYDROGENASEREF J.BIOL.CHEM. V. 279 32968 2004REFN ISSN 0021-9258PMID 15166214DOI 10.1074/JBC.M403611200 Variant Set Distributions Pathogenic Proximity Analysis […]

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4DVQ.J | CYP11B2

General Structure Information 4dvq CYP11B2 structure of human aldosterone synthase, cyp11b2, in complex with deoxycorticosterone 2.49Å AUTH N.STRUSHKEVICH,A.A.GILEP,L.SHEN,C.H.ARROWSMITH,A.M.EDWARDS,AUTH 2 S.A.USANOV,H.W.PARKTITL STRUCTURAL INSIGHTS INTO ALDOSTERONE SYNTHASE SUBSTRATETITL 2 SPECIFICITY AND TARGETED INHIBITION.REF MOL.ENDOCRINOL. V. 27 315 2013REFN ISSN 0888-8809PMID 23322723DOI 10.1210/ME.2012-1287 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3II5.A | BRAF

General Structure Information 3ii5 BRAF the complex of wild-type b-raf with pyrazolo pyrimidine inhibitor 2.79Å AUTH D.M.BERGER,N.TORRES,M.DUTIA,D.POWELL,G.CISZEWSKI,AUTH 2 A.GOPALSAMY,J.I.LEVIN,K.H.KIM,W.XU,J.WILHELM,Y.HU,AUTH 3 K.COLLINS,L.FELDBERG,S.KIM,E.FROMMER,AUTH 4 D.WOJCIECHOWICZ,R.MALLONTITL NON-HINGE-BINDING PYRAZOLO[1,5-A]PYRIMIDINES ASTITL 2 POTENT B-RAF KINASE INHIBITORS.REF BIOORG.MED.CHEM.LETT. V. 19 6519 2009REFN ISSN 0960-894XPMID 19864136DOI 10.1016/J.BMCL.2009.10.049 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1EXT.A | TNFRSF1A

General Structure Information 1ext TNFRSF1A extracellular domain of the 55kda tumor necrosis factor receptor. crystallized at ph3.7 in p 21 21 21. 1.85Å AUTH J.H.NAISMITH,T.Q.DEVINE,T.KOHNO,S.R.SPRANGTITL STRUCTURES OF THE EXTRACELLULAR DOMAIN OF THE TYPETITL 2 I TUMOR NECROSIS FACTOR RECEPTOR.REF STRUCTURE V. 4 1251 1996REFN ISSN 0969-2126PMID 8939750DOI 10.1016/S0969-2126(96)00134-7 Variant Set Distributions Pathogenic Proximity Analysis Mapped […]

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1PV8.B | ALAD

General Structure Information 1pv8 ALAD crystal structure of a low activity f12l mutant of human porphobilinogen synthase 2.2Å AUTH S.BREINIG,J.KERVINEN,L.STITH,A.S.WASSON,R.FAIRMAN,AUTH 2 A.WLODAWER,A.ZDANOV,E.K.JAFFETITL CONTROL OF TETRAPYRROLE BIOSYNTHESIS BY ALTERNATE QUATERNARYTITL 2 FORMS OF PORPHOBILINOGEN SYNTHASE.REF NAT.STRUCT.BIOL. V. 10 757 2003REFN ISSN 1072-8368PMID 12897770DOI 10.1038/NSB963 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]

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2EYI.A | ACTN1

General Structure Information 2eyi ACTN1 crystal structure of the actin-binding domain of human alpha-actinin 1 at 1.7 angstrom resolution 1.7Å AUTH E.BORREGO-DIAZ,F.KERFF,S.H.LEE,F.FERRON,Y.LI,AUTH 2 R.DOMINGUEZTITL CRYSTAL STRUCTURE OF THE ACTIN-BINDING DOMAIN OFTITL 2 ALPHA-ACTININ 1: EVALUATING TWO COMPETINGTITL 3 ACTIN-BINDING MODELS.REF J.STRUCT.BIOL. V. 155 230 2006REFN ISSN 1047-8477PMID 16698282DOI 10.1016/J.JSB.2006.01.013 Variant Set Distributions Pathogenic Proximity Analysis […]

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2O72.A | CDH1

General Structure Information 2o72 CDH1 crystal structure analysis of human e-cadherin (1-213) 2.0Å AUTH E.PARISINI,J.M.G.HIGGINS,J.-H.LIU,M.B.BRENNER,AUTH 2 J.-H.WANGTITL THE CRYSTAL STRUCTURE OF HUMAN E-CADHERIN DOMAINSTITL 2 1 AND 2, AND COMPARISON WITH OTHER CADHERINS INTITL 3 THE CONTEXT OF ADHESION MECHANISMREF J.MOL.BIOL. V. 373 401 2007REFN ISSN 0022-2836PMID 17850815DOI 10.1016/J.JMB.2007.08.011 Variant Set Distributions Ripley’s K Analysis […]

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4DB1.A | MYH7

General Structure Information 4db1 MYH7 cardiac human myosin s1dc, beta isoform complexed with mn-amppnp 2.6Å AUTH V.A.KLENCHIN,J.C.DEACON,A.C.COMBS,L.A.LEINWAND,I.RAYMENTTITL CARDIAC HUMAN MYOSIN S1DC, BETA ISOFORM COMPLEXED WITHTITL 2 MN-AMPPNPREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1FSU.A | ARSB

General Structure Information 1fsu ARSB 4-sulfatase (human) 2.5Å AUTH C.S.BOND,P.R.CLEMENTS,S.J.ASHBY,C.A.COLLYER,S.J.HARROP,AUTH 2 J.J.HOPWOOD,J.M.GUSSTITL STRUCTURE OF A HUMAN LYSOSOMAL SULFATASE.REF STRUCTURE V. 5 277 1997REFN ISSN 0969-2126PMID 9032078DOI 10.1016/S0969-2126(97)00185-8 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3LPO.A | SI

General Structure Information 3lpo SI crystal structure of the n-terminal domain of sucrase-isomaltase 3.2Å AUTH L.SIM,C.WILLEMSMA,S.MOHAN,H.Y.NAIM,B.M.PINTO,D.R.ROSETITL STRUCTURAL BASIS FOR SUBSTRATE SELECTIVITY IN HUMANTITL 2 MALTASE-GLUCOAMYLASE AND SUCRASE-ISOMALTASE N-TERMINALTITL 3 DOMAINS.REF J.BIOL.CHEM. V. 285 17763 2010REFN ISSN 0021-9258PMID 20356844DOI 10.1074/JBC.M109.078980 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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