U.S. Department of Health and Human Services — National Institutes of Health

Disease mutation

Discover > Disease mutation

3DPX-011474

Crystal structure of the R482W mutant of...
roshna_r

Immunoglobulin fold, lamin, Cardiomyopathy, Charcot-Marie-Tooth disease, Disease mutation, Intermediate filament, Limb-girdle muscular dystrophy, Lipoprotein, NUCLEUS, Phosphoprotein

3DPX-011089

Structure of the measles virus hemagglutinin...
Josh H

MEASLES, beta propeller, Envelope protein, hemagglutinin, VIRAL PROTEIN. MEMBRANE COFACTOR PROTEIN, MCP, CD46, VIRUS RECEPTOR COMPLEX, SCR, COMPLEMENT CONTROL PROTEIN

3DPX-010481

First and second Ig domains from human Robo1...
RobWilliams

Proto-oncogene, DIFFERENTIATION, PHOSPHORYLATION, Disease mutation, NEURONAL DEVELOPMENT, Immunoglobulin Domain, CHEMOTAXIS, NEUROGENESIS, glycoprotein, Transmembrane

3DPX-009883

Notch ligand, Jagged-1, contains an N-...
pkritsch

SIGNALING PROTEIN, SIGNALLING, glycoprotein, EXTRACELLULAR, DEVELOPMENTAL PROTEIN, Notch signaling pathway, EGF-LIKE DOMAIN TRANSMEMBRANE, EGF-LIKE DOMAIN, Disease mutation

3DPX-009862

Orthorhombic Crystal Structure of Human...
Jianbin Zheng

saposin, activator protein, sap, Alternative splicing, Disease mutation, GAUCHER DISEASE, glycoprotein, GM2-gangliosidosis, LIPID METABOLISM, Lysosome

3DPX-009766

Huntingtin amino-terminal region with 17 Gln...
Krish Wadhwani

Huntingtin, Htt-Ex1, HD, Sugar transport, Transport, Apoptosis, Disease mutation, NUCLEUS, Phosphoprotein, SIGNALING PROTEIN

3DPX-009324

Crystal structure of the p53 core domain...
rcc9427

p53 core domain, PROTEIN-DNA INTERACTION, self assembled tetramer, activator, Apoptosis, CELL CYCLE, Disease mutation, DNA-binding, endoplasmic reticulum, glycoprotein

3DPX-008532

Crystal structure of human methylmalonyl-CoA...
shchelochkovoa

organic aciduria, methylmalonyl CoA mutase deficiency, metabolic disease, Structural Genomics, Structural Genomics Consortium, SGC, cobalamin, Cobalt, Disease mutation, isomerase