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

Disease mutation

Discover > Disease mutation

3DPX-014243

Human p53 core domain with hot spot mutation...
PTB1

Metal-binding, LOOP-SHEET-HELIX MOTIF, TRANSCRIPTION, activator, ANTI-ONCOGENE, Apoptosis, CELL CYCLE, Disease mutation, RESCUE MUTATION, tumor suppressor

3DPX-012480

acid-beta-glucosidase with N-nonyl-...
Jianbin Zheng

ACID-BETA-GLUCOSIDASE, N-NONYL-DEOXYNOJIRIMYCINALTERNATIVE INITIATION, SPHINGOLIPID METABOLISM, N-NONYL-DEOXYNOJIRIMYCIN, GAUCHER DISEASE, Disease mutation, LIPID METABOLISM, Polymorphism, glycoprotein, Pharmaceutical

3DPX-012350

Crystal Structure of Human Saposin C Dimer...
Jianbin Zheng

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

3DPX-011822

Crystal Structure of the Kinase domain of...
ddiwanji

kinase domain, ANTI-ONCOGENE, ATP-binding, CELL CYCLE, Disease mutation, glycoprotein, Membrane, Nucleotide-binding, Phosphoprotein, receptor

3DPX-011566

Crystal structure of human YAP and TEAD...
terdiv4

immunoglobulin-like fold, activator, Disease mutation, DNA-binding, NUCLEUS, Phosphoprotein, TRANSCRIPTION, TRANSCRIPTION REGULATION, TRANSCRIPTION-PROTEIN BINDING complex

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