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

Disease mutation

Discover > Disease mutation

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

3DPX-008252

NMR Structure of Proinsulin
Sergey

proinsulin, Carbohydrate metabolism, Cleavage on pair of basic residues, Diabetes mellitus, Disease mutation, Disulfide bond, glucose metabolism, hormone, Pharmaceutical, Secreted

3DPX-007829

Crystal structure of Hedgehog-interacting...
bryce.gerrits

receptor ectodomain, six-bladed-propeller domain, EGF domain, Disulfide bond, calcium cation, zinc cation, Cell membrane, EGF-LIKE DOMAIN, glycoprotein, Membrane

3DPX-007443

Crystal Structure of Retinol-Binding Protein...
isabella

retinol binding, Disease mutation, Retinol-binding, Secreted, sensory transduction, Transport, vision, Vitamin A, TRANSPORT PROTEIN