Details Of Published TSH Receptor Mutation

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Pro 639 Ser

c.1915C>T

Constitutively Activating TSH Receptor Mutation

Type
gain
Manifestation
sporadic
Exon
10
Molecular Characteristics:
default 
Clinical Features:
sporadic congenital NAH 
Treatment:
anti thyroid drugs
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
4.8-5.0
1.1
2.4
0.2
-
0.7
1
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:
Agretti et al.
Eur J Pediatr
Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor gene
2012
Abstract In Medline Available