Details Of Published TSH Receptor Mutation
Ser 505 Argc.1513G>A
Constitutively Activating TSH Receptor Mutation
based on two hot nodule investigated by Stephenson et al. 2020 and two cases of FNAH investigated by Horton et al and Pohlenz et al.
Cell Surface Expression
cAMP (basal): basal in vitro cAMP production of mutant over wild-type TSHR
cAMP (TSH): maximal in vitro cAMP production of mutant over wild-type TSHR
IP (basal): basal in vitro IP production of mutant over wild-type TSHR
IP (TSH): maximal in vitro IP production of mutant over wild-type TSHR
TSH-binding: maximal TSH-binding compared to the wild-type TSHR
Cell surface expression: cell surface expression of mutant compared to WT-TSHR
LRA: linear regression analysis (LRA) of constitutive activity as a function of TSHR expression determined by 125I-bTSH binding or FACS analysis compared to the wild-type TSHR
Prevalence: Prevalence of (somatic and germline) activating mutations*
Ref: Reference for functional characterization
Child: Found in children.
Horton et al.
Ann Endocrinol (Paris) 48: 92
Hereditary hyperthyroidism with diffuse non autoimmune hyperactivity due to autonomy of function and growth
Tonacchera et al.
J. Clin. Endocrinol. Metab. 81: 547-554
Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia
Kosugi et al.
Eur. J. Endocrinol. 143: 471-477
A novel activating mutation in the thyrotropin receptor gene in an autonomously functioning thyroid nodule developed by a Japanese patient
Van Sande et al.
J. Clin. Endocrinol. Metab. 80: 2577-2585
Somatic and germline mutations of the TSH receptor gene in thyroid diseases
Claeysen et al.
FEBS Lett 517: 195-200
A conserved Asn in TM7 of the thyrotropin receptor is a common requirement for activation by both mutations and its natural agonist.
Pohlenz et al.
Acta Paediatr. 95: 1685-7
Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R).
Mueller et al.
Cases of borderline in vitro constitutive thyrotropin receptor activity: how to decide whether a thyrotropin receptor mutation is constitutively active or not?
Stephenson et al.
Sensitive Sequencing Analysis Suggests Thyrotropin Receptor and Guanine Nucleotide-Binding Protein G Subunit Alpha as Sole Driver Mutations in Hot Thyroid Nodules