Article
Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain.
The Journal of biological chemistry - 15 Dec 1993
Sung C H, Davenport C M, Nathans J
Abstract excerpt
Over 40 mutations in the rhodopsin gene have been identified in patients with autosomal dominant retinitis pigmentosa. Twenty-one of these mutations have been introduced into a human rhodopsin cDNA by site-directed mutagenesis, and the encoded proteins have been produced by transfection of a human embryonic kidney cell line (293S). Three of the mutant proteins (G51V, V345M, and P347S) resemble the wild type in...
Topics
- DNA, Complementary
- Genes, Dominant
- Humans
- Membrane Proteins
- Mutation
- Peptides
- Retinitis Pigmentosa
- Rhodopsin