In SNPs3D, the likely functional impact of non-synonymous SNPs is assessed using two previously developed methods [23-25]. One method makes use of protein structure to identify which amino acid substitutions significantly destabilize the folded state. The results show that up to three-quarters of monogenic disease single residue mutants act in that way [24]. The second method identifies deleterious substitutions through analysis of the extent and nature of amino acid conservation at the affected sequence position [25]. Access to details of both analyzes is provided through the web interface. Links to another publicly available non-synonymous SNP analysis tool are also provided [26,27].
