"Frame-shift mutations and nonconservative amino acid changes in PRPF8 typically cause severe clinical phenotypes. The conservative missense variant p.PRPF8-Arg2310Lys that is not altering the global charge of the C-terminal tail and variants located at the basis of the C-terminal tail show milder clinical phenotypes in accordance with functional data on PRPF8/SNRNP200 interactions in yeast."xsd:string