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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 4. Retention of intron 20 in the allele 2 transcript in Family 1.

Figure 4.

(A) location of splice site mutation at exon 21+1. (B) Aberrant, short 3’ RACE product obtained from fibroblast RNA isolated from the affected individual in Family 1 (arrow). (C) Sanger sequence of purified 3’ RACE products demonstrates correct splicing from exon 20 to exon 21 in one transcript and readthrough from exon 20 into intron 20 in the other transcript. (D) Additional sequence of the aberrant, read-through 3’ RACE product demonstrates the polyadenylation signal in intron 20, 100 bp downstream from exon 20. (E) Amino acid sequence of the truncated protein encoded by the read-through transcript.