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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 2. . Illustration of the mechanism by which the MUC1fs protein is encoded within a 60-mer block of repeated sequence that forms a MUC1 variable-number tandem repeat (VNTR).

Figure 2.

Illustration of the mechanism by which the MUC1fs protein is encoded within a 60-mer block of repeated sequence that forms a MUC1 variable-number tandem repeat (VNTR). In this figure of a hypothetic coding sequence of ten 60-mer blocks of repeated sequence, the seven-cytosine sequence of the first 60-mer repeat has an additional cytosine (red arrow) that causes a shift in the reading frame (i.e., it is a MUC1 frameshift variant). If, for example, the insertion of this cytosine were to occur in the 30th VNTR of a 100-VNTR domain, the first 30 VTNRs would encode the protein properly, whereas the next 70 VTNRs would encode a truncated (abnormal) MUC1fs protein (as the last VNTR will have a stop codon).

From: Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1

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Bleyer AJ, Živná M, Kidd K, et al. Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1. 2013 Aug 15 [Updated 2021 Oct 21]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Figure 2. [Illustration of the mechanism by...].
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