Article
The amino-acid mutational spectrum of human genetic disease.
Genome biology - 1 Jan 2003
Vitkup Dennis, Sander Chris, Church George M
Abstract excerpt
BACKGROUND: Nonsynonymous mutations in the coding regions of human genes are responsible for phenotypic differences between humans and for susceptibility to genetic disease. Computational methods were recently used to predict deleterious effects of nonsynonymous human mutations and polymorphisms. Here we focus on understanding the amino-acid mutation spectrum of human genetic disease. We compare the disease...
Topics
- Amino Acid Substitution
- Amino Acids
- Gene Frequency
- Genetic Diseases, Inborn
- Genetic Variation
- Humans
- Mutation
- Polymorphism, Single Nucleotide