Figure 5 | Scientific Reports

Figure 5

From: Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene

Figure 5

Five documented murine missense Slc26a4 variants. Five mouse models with missense Slc26a4 variants, including p.L236P, p.S408F, p.C565Y, p.T721M, and p.H723R, have been documented in the literature. (A) Scheme of the genomic DNA. Squares represent exons and lines represent introns. (B) Scheme of the 12-transmembrane domain model of pendrin. The five missense variants are indicated with stars, with p.L236P indicated in green, p.S408F in purple, p.C565Y in orange, p.T721M in red, and p.H723R in blue. L236P and p.S408F are located in the transmembrane domains, whereas p.C565Y, p.T721M, and p.H723R are located at the C-terminus of pendrin.

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