Location of mutations in the thyroid hormone receptor beta molecule causing resistance to thyroid hormone
(A) Schematic representation of the TR-beta molecule and its functional domains for interaction with TREs (DNA-binding) and with hormone (T3-binding). Their relationship to the 3 clusters of natural mutations is also indicated. TR-beta-2 has 15 more residues than TR-beta-1 at the amino terminus.
(B) The location of the 236 different mutations detected and their frequencies in the total of 805 unrelated families (published and our unpublished data). Amino acids are numbered consecutively, starting at the amino terminus of the TR-beta-1 molecule, according to the consensus statement of the First International Workshop on RTH. "Cold regions" are areas devoid of mutations associated with RTH-beta.
Adapted with permission from: Dumitrescu AM, Refetoff S. Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism and Action. 2015 Aug 20. In: Feingold KR, Anawalt B, Boyce A, Chrousos G, de Herder WW, Dhatariya K, Dungan K, Grossman A, Hershman JM, Hofland J, Kalra S, Kaltsas G, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, McGee EA, McLachlan R, Morley JE, New M, Purnell J, Sahay R, Singer F, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2015. Copyright © 2021 MDText.com, Inc.
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