Details Of Published TSH Receptor Mutation
Ile 568 Phec.1702A>T
Constitutively Activating TSH Receptor Mutation
based on four cases of hot nodules: toxic follicular adenoma by Agretti et al., ATN by Schwab et al., and adenomatous goitre by Schwab et al. and Nanba et al. 2012
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.
Schwab, Karl Otfried, et al.
The Journal of Pediatrics
Autonomous thyroid adenoma: only an adulthood disease?
Nanba, Kazutaka, et al.
Two rare TSH receptor amino acid substitutions in toxic thyroid adenomas
Agretti et al.
Prevalence of activating thyrotropin receptor and gsa gene mutations in paediatric thyroid toxic adenomas: a multicentric italian study