Fig. 1. Location of 17 variants in the TSHR protein and conservation analysis of the three novel variants identified in this study. (A) Distribution of 17 TSHR variants identified in the 367 patients with CH. The TSHR comprises seven LRR domains and one (PSD-95/Dlg/ZO-1) PDZ-binding motif (PBM), which is a short linear motif that interacts with a large family of protein–protein interaction domains found in prokaryotes and eukaryotes termed PDZ domains. The upper panel shows a schematic diagram of the TSHR protein sequence, and the lower panel shows a schematic diagram of the corresponding TSHR mRNA sequence. Red font denotes novel variants. (B) Conservation analysis of the three novel variants. Amino acid sequences of the TSHR from various species were downloaded from the NCBI website and aligned using the SnapGene software. The mutated amino acids in all TSHR homologs are indicated using red boxes.
Abbreviations: TSHR, thyroid-stimulating hormone receptor; CH, congenital hypothyroidism; LRR, leucine-rich repeat; NCBI, National Centre for Biotechnology Information.

Ann Lab Med 2024;44:343~353 https://doi.org/10.3343/alm.2023.0337