Table 1

The functional consequences of coding region polymorphisms. None means a silent nucleotide substitution. For amino acid changes, the type of change is categorized based upon Grantham values (50), which are derived from physiochemical considerations. The range that was used for Grantham values corresponds to that of Li et al. (15) and is as follows: conservative is <50; moderately conservative is between 51 and 100; moderately radical is between 101 and 150; and radical is ≥151.

Type of amino acid changeThis study (%)Mammalian pseudogenes (%)
None44.427.9
Conservative19.220.1
Moderately conservative23.628.2
Moderately radical8.212.9
Radical3.76.6
To stop codon0.94.4