Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_000360
64085121

thyrotropin receptor isoform 1 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  HYPERTHYROIDISM, FAMILIAL GESTATIONAL
  HYPERTHYROIDISM, NONAUTOIMMUNE
  HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
  THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC
  THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC, INCLUDED
  THYROID CARCINOMA WITH THYROTOXICOSIS
28
2
28
2
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

7TM_GPCR_Srx - pfam10328
7tm_1 - pfam00001


RefSeq Protein: NP_000360
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
7TM_GPCR_Srxpfam103280.00097422699

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1991517 Polymorphismp.GLU727ASPN/A
dbSNPrs2234919 Polymorphismp.PRO52THRN/A
OMIM603372.0003 Diseasep.ALA623ILETHYROID ADENOMA, HYPERFUNCTIONING, SOMATIC
OMIM603372.0016 Diseasep.ALA553THRHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
OMIM603372.0027 Diseasep.ARG310CYSHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
OMIM603372.0009 Diseasep.ARG109GLNHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
OMIM603372.0012 Diseasep.ASP410ASNHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
OMIM603372.0002 Diseasep.ASP619GLYTHYROID ADENOMA, HYPERFUNCTIONING, SOMATIC
OMIM603372.0008 Diseasep.ASP633HISTHYROID CARCINOMA WITH THYROTOXICOSIS
OMIM603372.0029 Diseasep.CYS600ARGHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
OMIM603372.0013 Diseasep.CYS41SERHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
OMIM603372.0015 Diseasep.CYS390TRPHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
OMIM603372.0020 Diseasep.CYS672TYRHYPERTHYROIDISM, NONAUTOIMMUNE
OMIM603372.0011 Diseasep.GLN324TERHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
OMIM603372.0028 Diseasep.GLY431SERHYPERTHYROIDISM, NONAUTOIMMUNE
OMIM603372.0005 Diseasep.ILE167ASNHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
OMIM603372.0022 Diseasep.LEU629PHEHYPERTHYROIDISM, NONAUTOIMMUNE||THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC, INCLUDED
OMIM603372.0030 Diseasep.LEU467PROHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
OMIM603372.0024 Diseasep.LYS183ARGHYPERTHYROIDISM, FAMILIAL GESTATIONAL
OMIM603372.0007 Diseasep.MET453THRHYPERTHYROIDISM, NONAUTOIMMUNE
OMIM603372.0014 Diseasep.PHE525LEUHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
OMIM603372.0004 Diseasep.PHE631LEUHYPERTHYROIDISM, NONAUTOIMMUNE||THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC, INCLUDED
OMIM603372.0006 Diseasep.PRO162ALAHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
OMIM603372.0025 Diseasep.PRO639SERHYPERTHYROIDISM, NONAUTOIMMUNE
OMIM603372.0023 Diseasep.SER281ASNHYPERTHYROIDISM, NONAUTOIMMUNE
OMIM603372.0021 Diseasep.SER505ASNHYPERTHYROIDISM, NONAUTOIMMUNE
OMIM603372.0017 Diseasep.SER281ILETHYROID ADENOMA, HYPERFUNCTIONING, SOMATIC
OMIM603372.0026 Diseasep.THR477ILEHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
OMIM603372.0010 Diseasep.TRP546TERHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
OMIM603372.0019 Diseasep.VAL509ALAHYPERTHYROIDISM, NONAUTOIMMUNE



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258