Spectrum of disease-causing mutations in protein secondary structures.

ABSTRACT:

Background

Most genetic disorders are linked to missense mutations as even minor changes in the size or properties of an amino acid can alter or prevent the function of the protein. Further, the effect of a mutation is also dependent on the sequence and structure context of the alteration.

Results

We investigated the spectrum of disease-causing missense mutations in secondary structure elements in proteins with numerous known mutations and for which an experimentally defined three-dimensional structure is available. We obtained a comprehensive map of the differences in mutation frequencies, location and contact energies, and the changes in residue volume and charge - both in the mutated (original) amino acids and in the mutant amino acids in the different secondary structure

SUBMITTER: Khan S 

PROVIDER: S-EPMC1995201 | biostudies-literature | 2007 Aug

REPOSITORIES: biostudies-literature