Article
Mutation patterns of amino acid tandem repeats in the human proteome.
Genome biology - 1 Jan 2006
Mularoni Loris, Guigó Roderic, Albà M Mar
Abstract excerpt
BACKGROUND: Amino acid tandem repeats are found in nearly one-fifth of human proteins. Abnormal expansion of these regions is associated with several human disorders. To gain further insight into the mutational mechanisms that operate in this type of sequence, we have analyzed a large number of mutation variants derived from human expressed sequence tags (ESTs). RESULTS: We identified 137 polymorphic variants in...
Topics
- Amino Acid Substitution
- Codon
- Expressed Sequence Tags
- Humans
- Mutation
- Polymorphism, Genetic
- Proteome
- Repetitive Sequences, Amino Acid
- Sequence Analysis, Protein
