Skip to main content
. 2014 Jan 9;9(1):e85313. doi: 10.1371/journal.pone.0085313

Figure 3. Results from DNA sequencing of the PCSK5 gene and protein sequence alignment.

Figure 3

a. Upper part showing exons of the PCSK5 gene (ENSG00000099139) with location of detected sequence variants indicated by black arrows (our study) and crosshatched arrows (Szumska et al.)[18]. Star indicates variant detected in one fetal case in our study and in two patients by Szumska et al. (c.4642G>A, p.Glu1548Lys). Lower part of figure showing the two isoforms of PCSK5 with protein domains, based on image from Seidah et al. [35]. Prolonged arrow indicating the amino acid change p.Arg775Gln in both PCSK5 protein isoforms. Dagger indicates variant that was reported by Szumska et al. and was later reported as a non-synonymous coding SNP (rs114508164, P1201S). SP signal peptide, PP propeptide, CD catalytic domain, P P-domain, CRM cysteine-rich motif, TM transmembrane domain, C cytosolic tail. b. Results from PCSK5 DNA sequencing show heterozygous missense variants (*) in fetal cases FC8, FC12 and FC4. For each detected variant, the corresponding protein sequence alignment of 6 vertebrate PCSK5B sequences is shown beneath, revealing conservation of Cys-1653 in all 6 species (mammals, birds, amphibians and fish), Glu-1548 in mammals and Arg-775 only in primates.