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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
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Default View:

7TM_GPCR_Srx - pfam10328
7tm_1 - pfam00001


RefSeq Protein: NP_000360
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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 ↕
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



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