Article
Opsins with mutations at the site of chromophore attachment constitutively activate transducin but are not phosphorylated by rhodopsin kinase.
Proceedings of the National Academy of Sciences of the United States of America - 7 Jun 1994
Robinson P R, Buczyłko J, Ohguro H, Palczewski K
Abstract excerpt
More than 70 mutations in the gene encoding the visual pigment rhodopsin have been identified in patients with autosomal dominant retinitis pigmentosa. Most of these mutations are thought to interfere with proper folding of the membrane protein. However, families with a severe phenotype of retinitis pigmentosa have been identified and shown to carry a mutation at the site of chromophore attachment, Lys-296. This...
Topics
- Amino Acid Sequence
- Animals
- Cattle
- Cell Line
- Cell Membrane
- Chlorocebus aethiops
- Eye Proteins
- G-Protein-Coupled Receptor Kinase 1
- Molecular Sequence Data
- Mutagenesis, Site-Directed