Novel pathogenic mutations in three FH-linked genes (n = 69).

<p>*Nucleotide location number was assigned according to the low-density lipoprotein receptor (<i>LDLR</i>; NM_000527) and proprotein convertase subtilisin/kexin type 9 (<i>PCSK9</i>; NM_174936) mRNA sequences.</p><p>^†Prediction for frameshift mutations of <i>LDLR</i> is not available from the Polyphen-2 and SIFT algorithms and is not marked.</p><p>^‡Public databases include the 1000 Genomes Project, dbSNP135, and NHLBI GO Exome Sequencing Project.</p><p>^§The frameshift mutation changes the cysteine at position 109, as four nucleotides after the deletion compensate for the frameshift effect until threonine (108).</p><p>^||The replacement of nucleotides 2500 to 2502 (GAT) occurred by ‘C’ at the cis position.</p><p>^#The p.R215H (c.644G>A) is a gain-of-function mutation in the catalytic domain of <i>PCSK9</i>. [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0126706#pone.0126706.ref022" target="_blank">22</a>, <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0126706#pone.0126706.ref023" target="_blank">23</a>] Variants were validated by Sanger sequencing.</p><p>NA: Not available.</p><p>Novel pathogenic mutations in three FH-linked genes (n = 69).