Fig. 1

Splicing variants of CHAT gene. ChAT and VAChT (vesicular acetylcholine transporter) proteins are encoded in 18 exons of CHAT gene. There are 5 transcripts for ChAT (N1, N2, R, S and M) produced by alternative splicing. All transcript variants have translation initiation (start) codons for 70-kDA ChAT protein (isoform 1). The M transcript has an additional start codon for 83-kDa ChAT protein (isoform 2) and the S transcript has one for 74-kDa ChAT protein (isoform 3) (Misawa et al., 1997; Ohno et al., 2001). R, N1 and N2 transcripts are the basis for the production of same 630 amino acid-long protein product (70-kDa ChAT) where that 2nd amino acid is changed by rs3810950 polymorphism (marked by down arrow, p.A2T). In the M transcript variant of ChAT protein the 120th amino acid position is influenced by rs3810950 polymorphism (marked by down arrow, p.A120T) and in case of the S transcript it is the 38th position (marked by down arrow, p.A38T) that is influenced by rs3810950 polymorphism. White coloured boxes represent exons in the DNA sequence of the CHAT gene, light grey coloured boxes show untranslated regions and dark grey coloured boxes show translated regions of the mRNA (according to reference sequences NC_000010.11 and NG_011797.1, NCBI Database). The rs3810950 polymorphism and its position in mRNAs and proteins are marked by arrow up. The horizontal lines show introns and dotted lines are sequences spliced into mRNA