Observed amino acid substitution frequencies compared to BLOSUM62. Amino acid substitution frequencies observed in healthy and reported for OMIM disease alleles were converted to LOD-based scores for purposes of comparison to BLOSUM62. The BLOSUM62 scores are plotted on the y-axis throughout. (Red circles) stops; (blue circles) all other amino acid changes. The diameter of the circles is proportional to the number of changes with that score in BLOSUM62. (A) BLOSUM62 scoring compared to itself. Perfect correspondence would produce the diagonally arranged circles shown. (B) Frequencies of amino acid substitutions in 10 healthy genomes compared to BLOSUM62. (C) OMIM nonsynonymous variant frequencies compared to BLOSUM62.
