PMC10111252_01
Identification of the novel THRbeta mutation. (A) Pedigree of the proband harboring the novel THRbeta mutation (p.Pro453Asn). The proband harboring de novo heterozygous mutation is identified by the arrow. Circles denote female members; squares denote male members. The sequencing results for the c.1357_1358delinsAA (p.Pro453Asn) mutation are noted below the corresponding individual. M, mutation; NT, not tested. (B) Schematic presentation of THRbeta gene; variant's position identified in this study is indicated in red. (C) Results of direct DNA sequencing for THRbeta mutation in the proband. (D) UniProt alignment of the THRbeta region containing the variant identified in this study and amino acid variations across species from zebrafish to human.
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PMC10111252_01_fgene-14-1051042-g001.jpg
F1
Sequence analysis revealed a novel heterozygous delins mutation c.1357_1358delinsAA in exon 10 (Figure 1).