A schematic of the genomic alignment of full-length ASM-1 and all known splice variants.

<p>ASM-1 constitutes the reference sequence to which all other ASM variants are compared. The novel variant ASM-5 lacks part of exon 3, resulting in a shorter (1818 bp) coding sequence. Novel variants ASM-6 and ASM-7 contain different intronic insertions. Consequently, their transcript lengths are 1907 bp and 1921 bp, respectively. The insertions create frameshifts in the coding sequence and introduce premature stop codons, which terminate translation after 1521 bp and 1197 bp, respectively. For information on the previously described variants ASM-2, -3, -4 see <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0035467#pone.0035467-Quintern2" target="_blank">[22]</a>, <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0035467#pone.0035467-Schuchman1" target="_blank">[23]</a>. In this schematic, lines represent genomic sequences, black boxes indicate exons translated as in ASM-1, grey boxes refer to exonic sequences translated into different amino acids due to a frameshift or coding sequences that correspond to introns in ASM-1, and white boxes denote exonic sequences that follow a premature termination codon.