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Results for the Protein: P16473
62298994

TSHR_HUMAN RecName: Full=Thyrotropin receptor; AltName: Full=Thyroid-stimulating hormone receptor; Short=TSH-R; Flags: Precursor

Known Diseases associated with this Protein:
  FAMILIAL GESTATIONAL HYPERTHYROIDISM (HTFG)
  HYPERTHYROIDISM, NON-AUTOIMMUNE (HTNA)
  HYPOTHYROIDISM, CONGENITAL, NON-GOITROUS, 1 (CHNG1)
37
30
0
0
67
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7TM_GPCR_Srx - pfam10328
7tm_1 - pfam00001


Swiss-Prot Protein: P16473
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
7tm_1pfam000011.4e-39436678
7TM_GPCR_Srxpfam103280.00097422699

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_021498Polymorphismp.ALA593ASNN/A
Swiss-ProtVAR_011559Polymorphismp.ALA703GLYN/A
Swiss-ProtVAR_003574Polymorphismp.ALA623ILEN/A
Swiss-ProtVAR_011538Diseasep.ALA553THRHypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-ProtVAR_011542Polymorphismp.ALA623VALN/A
Swiss-ProtVAR_011553Diseasep.ALA647VALHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_011524Diseasep.ARG310CYSHypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-ProtVAR_011520Diseasep.ARG109GLNHypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-ProtVAR_011528Diseasep.ARG450HISHypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-ProtVAR_003572Polymorphismp.ARG528HISN/A
Swiss-ProtVAR_003576Polymorphismp.ASN715ASPN/A
Swiss-ProtVAR_011556Diseasep.ASN670SERHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_011554Diseasep.ASN650TYRHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_011548Polymorphismp.ASP633ALAN/A
Swiss-ProtVAR_011526Diseasep.ASP410ASNHypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-ProtVAR_003568Polymorphismp.ASP219GLUN/A
Swiss-ProtVAR_011549Diseasep.ASP633GLUHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_003578Polymorphismp.ASP727GLUN/A
Swiss-ProtVAR_003573Polymorphismp.ASP619GLYN/A
Swiss-ProtVAR_003564Polymorphismp.ASP36HISN/A
Swiss-ProtVAR_011550Polymorphismp.ASP633HISN/A
Swiss-ProtVAR_011551Polymorphismp.ASP633TYRN/A
Swiss-ProtVAR_017297Diseasep.CYS600ARGHypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-ProtVAR_011519Diseasep.CYS41SERHypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-ProtVAR_011525Diseasep.CYS390TRPHypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-ProtVAR_011557Diseasep.CYS672TYRHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_011560Polymorphismp.GLN720GLUN/A
Swiss-ProtVAR_055925Polymorphismp.GLU34LYSN/A
Swiss-ProtVAR_011527Diseasep.GLY431SERHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_011533Diseasep.GLY498SERHypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-ProtVAR_011522Diseasep.ILE167ASNHypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-ProtVAR_011543Polymorphismp.ILE630LEUN/A
Swiss-ProtVAR_011532Diseasep.ILE486METHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_011541Polymorphismp.ILE606METN/A
Swiss-ProtVAR_011531Diseasep.ILE486PHEHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_011539Diseasep.ILE568THRHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_011536Polymorphismp.LEU512ARGN/A
Swiss-ProtVAR_021497Polymorphismp.LEU512GLNN/A
Swiss-ProtVAR_003575Diseasep.LEU629PHEHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_021495Diseasep.LEU252PROHypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-ProtVAR_017295Diseasep.LEU467PROHypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-ProtVAR_011558Polymorphismp.LEU677VALN/A
Swiss-ProtVAR_003566Diseasep.LYS183ARGFamilial gestational hyperthyroidism (HTFG)
Swiss-ProtVAR_003577Polymorphismp.LYS723METN/A
Swiss-ProtVAR_011529Diseasep.MET453THRHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_011530Diseasep.MET463VALHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_011544Polymorphismp.PHE631CYSN/A
Swiss-ProtVAR_003567Polymorphismp.PHE197ILEN/A
Swiss-ProtVAR_011537Diseasep.PHE525LEUHypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-ProtVAR_011545Diseasep.PHE631LEUHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_011521Diseasep.PRO162ALAHypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-ProtVAR_021500Polymorphismp.PRO639ALAN/A
Swiss-ProtVAR_011552Diseasep.PRO639SERHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_003565Polymorphismp.PRO52THRN/A
Swiss-ProtVAR_011534Diseasep.SER505ARGHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_003570Diseasep.SER281ASNHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_003571Diseasep.SER505ASNHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_003569Polymorphismp.SER281ILEN/A
Swiss-ProtVAR_021496Polymorphismp.SER425ILEN/A
Swiss-ProtVAR_011523Polymorphismp.SER281THRN/A
Swiss-ProtVAR_011546Diseasep.THR632ALAHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_017296Diseasep.THR477ILEHypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-ProtVAR_011547Diseasep.THR632ILEHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_011535Diseasep.VAL509ALAHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_011540Polymorphismp.VAL597LEUN/A
Swiss-ProtVAR_021499Diseasep.VAL597PHEHyperthyroidism, non-autoimmune (HTNA)
Swiss-ProtVAR_021501Polymorphismp.VAL656PHEN/A



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