Fig. 1 | Scientific Reports

Fig. 1

From: Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB

Fig. 1

Schematic representation of the TRβ1 and TRβ2 isoforms of THRB. The red circle with an “M” letter represents the reported variant NM_001354712.2:c.283 + 1G > A. (A) TRβ1 (NM_001354712.2) contains 11 exons and 461 amino acids. (B) TRβ2 (ENST00000280696.9) contains 7 exons and 476 amino acids and (C) TRβ2 (NM_001354714.2) contains 9 exons and 430 amino acids. The variant NM_001354712.2:c.283 + 1G > A is located in the donor splicing site of TRβ1 exon 5, and in the donor splicing site of TRβ2 (NM_001354714.2) exon 3 (NM_001354714.2:c.190G > A). However, it does not affect the isoform TRβ2 (ENST00000280696.9). aa: amino acids; A/B: N-terminal A/B domain; DBD: DNA-binding domain; Hinge: hinge domain; LBD: C-terminal ligand-binding domain; AF2: ligand-dependent activation function.

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