Fig. 2: Distribution of PPA2 variants and conservation of affected amino acids.
From: PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
(a) Genomic structure and location of all known disease-associated variants within PPA2 (GenBank NM_176869.2) encoding the mitochondrial inorganic pyrophosphatase. Green-filled boxes represent coding exons 1 to 12. Numbers above the gene’s schematic indicate the position of complementary DNA (cDNA) variants. Red numbers indicate the novel variants reported in this manuscript. Translated protein (Genbank NP_789845.1) is represented below the gene as spliced green boxes with black borders. (b) Phylogenetic conservation of amino acids affected by PPA2 missense variants is shown by multiple sequence alignment performed with the Clustal omega algorithm. Numbers reflect amino acid position. Red numbers indicate amino acids affected by novel variants reported in this paper. e exon, aa amino acids, nt nucleotides, UTR untranslated region.
