Article
Amino acid changes in disease-associated variants differ radically from variants observed in the 1000 genomes project dataset.
PLoS computational biology - 1 Jan 2013
de Beer Tjaart A P, Laskowski Roman A, Parks Sarah L, Sipos Botond, Goldman Nick, Thornton Janet M
Abstract excerpt
The 1000 Genomes Project data provides a natural background dataset for amino acid germline mutations in humans. Since the direction of mutation is known, the amino acid exchange matrix generated from the observed nucleotide variants is asymmetric and the mutabilities of the different amino acids are very different. These differences predominantly reflect preferences for nucleotide mutations in the DNA...
Topics
- Amino Acids
- Databases, Genetic
- Genome, Human
- Humans
- Mutation
- Proteins