RISK STRATIFICATION OF GENETIC DISEASE USING SCORING OF AMINO ACID RESIDUE CONSERVATION IN PROTEIN FAMILIES

摘要

Methods, databases and software for determining the risk of an adverse health event for patient by analysis of the protein sequence of the patient are described. The methods involve obtaining a protein sequence that is associated with a specific disorder from the patient. The protein sequence from the patient is compared to a database of sequences of the same protein and is analyzed to determine the conservation score of the amino acid residues in the protein. Those amino acid residues having high conservation scores will be further analyzed to determine if there are mutations present at those highly conserved positions. Patients having proteins with mutations in highly conserved positions are determined to have a higher risk of an adverse event due to the disorder.