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

Disease mutation

Discover > Disease mutation

3DPX-016049

Crystal structure of mouse Ryanodine...
xfx0

Ryanodine Receptor 2, SPRY1, Disease mutation, METAL TRANSPORT

3DPX-015569

A cis-proline in alpha-hemoglobin...
cgoh111

hemoglobin, cis-proline, ahsp, stabilization, chaperone, Cytoplasm, Polymorphism, Acetylation, Disease mutation, Glycation

3DPX-015291

KIT kinase domain mutant D816H in complex...
Millhill

KIT Kinase domain, Sutent binding, drug resistance, ATP-binding, Disease mutation, glycoprotein, Immunoglobulin Domain, KINASE, Membrane, Nucleotide-binding

3DPX-015250

Crystal Structure Analysis of Coagulation...
Mario K.

ceruloplasmin fold, cupper protein fold, C2 domain fold, Acute phase, BLOOD COAGULATION, Disease mutation, glycoprotein, Hemophilia, Metal-binding, Secreted

3DPX-014707

Intact PPAR gamma - RXR alpha Nuclear...
liqiang2

DNA-binding, Host-virus interaction, Metal-binding, NUCLEUS, receptor, TRANSCRIPTION, TRANSCRIPTION REGULATION, Zinc-finger, activator, Diabetes mellitus

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