Details Of Published TSH Receptor Mutation
Ser 305 Argc.915T>A
Inactivating TSH Receptor Mutation
thyroid hypoplasia in Cerquiera 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.
Long W, Lu G, Zhou W, Yang Y, Zhang B, Zhou H, Jiang L, Yu B
Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism
Cerqueira et al.
Journal of Pediatric Endocrinology and Metabolism
Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion