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. Author manuscript; available in PMC: 2020 May 1.
Published in final edited form as: Hum Mutat. 2019 Feb 28;40(5):619–630. doi: 10.1002/humu.23720

Figure 3: Nonsense-mediated decay of the allele 1 transcript in Family 1.

Figure 3:

The affected individual is heterozygous for variant W246X in exon 7. The sequence of the wildtype tryptophan codon TGG and the stop codon TAG are both evident in the PCR product from genomic DNA (top). In contrast, the product amplified by RT-PCR of fibroblast RNA contains the tryptophan codon TGG, but the stop codon is not detectable. The data demonstrates the instability of the stop-codon containing transcript, which is a predicted substrate for nonsense-mediated decay.