Results for the protein: P16473

Results for the Protein: P16473

62298994

7253

TSHR

NCBI, UniProt

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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Default View: 7TM_GPCR_Srx - pfam10328 7tm_1 - pfam00001	Swiss-Prot Protein: P16473 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
7TM_GPCR_Srx	pfam10328	0.00097	422	699

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_021498	Polymorphism	p.ALA593ASN	N/A
Swiss-Prot	VAR_011559	Polymorphism	p.ALA703GLY	N/A
Swiss-Prot	VAR_003574	Polymorphism	p.ALA623ILE	N/A
Swiss-Prot	VAR_011538	Disease	p.ALA553THR	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-Prot	VAR_011542	Polymorphism	p.ALA623VAL	N/A
Swiss-Prot	VAR_011553	Disease	p.ALA647VAL	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_011524	Disease	p.ARG310CYS	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-Prot	VAR_011520	Disease	p.ARG109GLN	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-Prot	VAR_011528	Disease	p.ARG450HIS	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-Prot	VAR_003572	Polymorphism	p.ARG528HIS	N/A
Swiss-Prot	VAR_003576	Polymorphism	p.ASN715ASP	N/A
Swiss-Prot	VAR_011556	Disease	p.ASN670SER	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_011554	Disease	p.ASN650TYR	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_011548	Polymorphism	p.ASP633ALA	N/A
Swiss-Prot	VAR_011526	Disease	p.ASP410ASN	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-Prot	VAR_003568	Polymorphism	p.ASP219GLU	N/A
Swiss-Prot	VAR_011549	Disease	p.ASP633GLU	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_003578	Polymorphism	p.ASP727GLU	N/A
Swiss-Prot	VAR_003573	Polymorphism	p.ASP619GLY	N/A
Swiss-Prot	VAR_003564	Polymorphism	p.ASP36HIS	N/A
Swiss-Prot	VAR_011550	Polymorphism	p.ASP633HIS	N/A
Swiss-Prot	VAR_011551	Polymorphism	p.ASP633TYR	N/A
Swiss-Prot	VAR_017297	Disease	p.CYS600ARG	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-Prot	VAR_011519	Disease	p.CYS41SER	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-Prot	VAR_011525	Disease	p.CYS390TRP	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-Prot	VAR_011557	Disease	p.CYS672TYR	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_011560	Polymorphism	p.GLN720GLU	N/A
Swiss-Prot	VAR_055925	Polymorphism	p.GLU34LYS	N/A
Swiss-Prot	VAR_011527	Disease	p.GLY431SER	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_011533	Disease	p.GLY498SER	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-Prot	VAR_011522	Disease	p.ILE167ASN	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-Prot	VAR_011543	Polymorphism	p.ILE630LEU	N/A
Swiss-Prot	VAR_011532	Disease	p.ILE486MET	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_011541	Polymorphism	p.ILE606MET	N/A
Swiss-Prot	VAR_011531	Disease	p.ILE486PHE	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_011539	Disease	p.ILE568THR	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_011536	Polymorphism	p.LEU512ARG	N/A
Swiss-Prot	VAR_021497	Polymorphism	p.LEU512GLN	N/A
Swiss-Prot	VAR_003575	Disease	p.LEU629PHE	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_021495	Disease	p.LEU252PRO	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-Prot	VAR_017295	Disease	p.LEU467PRO	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-Prot	VAR_011558	Polymorphism	p.LEU677VAL	N/A
Swiss-Prot	VAR_003566	Disease	p.LYS183ARG	Familial gestational hyperthyroidism (HTFG)
Swiss-Prot	VAR_003577	Polymorphism	p.LYS723MET	N/A
Swiss-Prot	VAR_011529	Disease	p.MET453THR	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_011530	Disease	p.MET463VAL	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_011544	Polymorphism	p.PHE631CYS	N/A
Swiss-Prot	VAR_003567	Polymorphism	p.PHE197ILE	N/A
Swiss-Prot	VAR_011537	Disease	p.PHE525LEU	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-Prot	VAR_011545	Disease	p.PHE631LEU	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_011521	Disease	p.PRO162ALA	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-Prot	VAR_021500	Polymorphism	p.PRO639ALA	N/A
Swiss-Prot	VAR_011552	Disease	p.PRO639SER	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_003565	Polymorphism	p.PRO52THR	N/A
Swiss-Prot	VAR_011534	Disease	p.SER505ARG	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_003570	Disease	p.SER281ASN	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_003571	Disease	p.SER505ASN	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_003569	Polymorphism	p.SER281ILE	N/A
Swiss-Prot	VAR_021496	Polymorphism	p.SER425ILE	N/A
Swiss-Prot	VAR_011523	Polymorphism	p.SER281THR	N/A
Swiss-Prot	VAR_011546	Disease	p.THR632ALA	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_017296	Disease	p.THR477ILE	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)
Swiss-Prot	VAR_011547	Disease	p.THR632ILE	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_011535	Disease	p.VAL509ALA	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_011540	Polymorphism	p.VAL597LEU	N/A
Swiss-Prot	VAR_021499	Disease	p.VAL597PHE	Hyperthyroidism, non-autoimmune (HTNA)
Swiss-Prot	VAR_021501	Polymorphism	p.VAL656PHE	N/A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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