M453T (p.Met453Thr) variant of TSHR (Thyrotropin receptor)
M453T (p.Met453Thr) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hyperthyroidism due to mutations in TSH receptor. The record also includes published literature and structural context.
M453T (p.Met453Thr) variant details
- p.Met453Thr
- rs121908864
- ClinGen CA118209
- NCI-TCGA Cosmic COSV5331
- cosmic curated COSV53313
- Likely pathogenic
- Familial hyperthyroidism due to mutations in TSH receptor
- Missense
- ClinVar: Likely pathogenic (Familial hyperthyroidism due to mutations in TSH receptor)
- EBI: Pathogenic (in HTNA)
- UniProt: Pathogenic (in HTNA)
- Structural context available
- Cited in: Association of the TSHR gene with Graves' disease: the first disease specific locus. (PMID 16106256)
- Cited in: Detection of thyroid-stimulating hormone receptor and Gsalpha mutations: in 75 toxic thyroid nodules by denaturing… (PMID 11434721)