SNP's and protein structure
>80% of disease-associated SNP's affect protein
stability (hydrogen bonds lost, burying of charged
or polar residues, overpacking, internal cavities,
breakage of disulfide bonds, disruption of metal
binding, destabilization of a multimer…), with
other effects (ligand binding, catalysis,…) less
common (5-10%)
70% of non-disease associated SNP's have no
apparent effect on protein stability or function