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(A) DNA analysis: Representative sequence data highlighting the presence of a missense mutation in the exon 9 of ADFH patient one. (B) Kyte-Doolittle hydropathy analysis of amino acids for wild type (Blue) and I474V-PCSK9 (red) surrounding the point of mutation (the exact point of mutation is indicated by an arrow). Note: At position 476, there is a reversal in the hydropathy, from hydrophobic to hydrophilic for the I474V-PCSK9 as the score here is <0 versus >0 in the wild-type PCSK9.
