General Structure Information 3law RAB7A structure of gtp-bound l129f mutant rab7 2.8Å AUTH B.A.MCCRAY,E.SKORDALAKES,J.P.TAYLORTITL DISEASE MUTATIONS IN RAB7 RESULT IN UNREGULATED NUCLEOTIDETITL 2 EXCHANGE AND INAPPROPRIATE ACTIVATION.REF HUM.MOL.GENET. V. 19 1033 2010REFN ISSN 0964-6906PMID 20028791DOI 10.1093/HMG/DDP567 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 1t77 LRBA crystal structure of the ph-beach domains of human lrba/bgl 2.4Å AUTH D.GEBAUER,J.LI,G.JOGL,Y.SHEN,D.G.MYSZKA,L.TONGTITL CRYSTAL STRUCTURE OF THE PH-BEACH DOMAINS OF HUMANTITL 2 LRBA/BGLREF BIOCHEMISTRY V. 43 14873 2004REFN ISSN 0006-2960PMID 15554694DOI 10.1021/BI049498Y Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3eh2 SEC24C crystal structure of the human copii-coat protein sec24c 2.35Å AUTH J.D.MANCIAS,J.GOLDBERGTITL STRUCTURAL BASIS OF CARGO MEMBRANE PROTEINTITL 2 DISCRIMINATION BY THE HUMAN COPII COAT MACHINERY.REF EMBO J. V. 27 2918 2008REFN ISSN 0261-4189PMID 18843296DOI 10.1038/EMBOJ.2008.208 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2r83 SYT1 crystal structure analysis of human synaptotagmin 1 c2a-c2b 2.7Å AUTH K.L.FUSON,M.MONTES,J.J.ROBERT,R.B.SUTTONTITL STRUCTURE OF HUMAN SYNAPTOTAGMIN 1 C2AB IN THETITL 2 ABSENCE OF CA2+ REVEALS A NOVEL DOMAIN ASSOCIATION.REF BIOCHEMISTRY V. 46 13041 2007REFN ISSN 0006-2960PMID 17956130DOI 10.1021/BI701651K Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]