Details Of Published TSH Receptor Mutation
Ser 305 Arg
c.915T>AInactivating TSH Receptor Mutation
Type
loss
Manifestation
sporadic
Exon
10
Molecular Characteristics:
default
Clinical Features:
thyroid hypoplasia in Cerquiera et al.
Treatment:
default
Functional Characteristics:
cAMP
(basal)
(basal)
cAMP
(TSH)
(TSH)
IP
(basal)
(basal)
IP
(TSH)
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2
Legend:
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.
Reference 1:
Long W, Lu G, Zhou W, Yang Y, Zhang B, Zhou H, Jiang L, Yu B
Endocrine journal
Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism
2018
Reference 2:
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
2014