G431S (p.Gly431Ser) variant of TSHR (Thyrotropin receptor)
G431S (p.Gly431Ser) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hyperthyroidism due to mutations in TSH receptor. The record also includes published literature and structural context.
G431S (p.Gly431Ser) variant details
- p.Gly431Ser
- rs121908883
- ClinGen CA118269
- cosmic curated COSV53326
- ClinVar RCV000006828
- Pathogenic
- Familial hyperthyroidism due to mutations in TSH receptor
- Missense
- ClinVar: Pathogenic (Familial hyperthyroidism due to mutations in TSH receptor)
- EBI: Pathogenic (in HTNA)
- UniProt: Pathogenic (in HTNA)
- Structural context available
- Cited in: The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune… (PMID 11549687)
- Cited in: Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood. (PMID 11127522)