Fig. 2From: In silico analysis and the pathogenicity classification of PTS gene variants among Iranian populationIn silico analysis of PTS:c.84-3C>G variant using splicing predictive tools. Although exon skipping was predicted by these tools, according to Oppliger et al. (1997) functional study, the use of a cryptic splicing site would result in a deletion of 12 nucleotides at the beginning of exon 2 and finally, a deletion of four amino acids (p.Lys29_Ser32del)Back to article page