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Results for the Protein: NP_001229329
334883129
GHR

growth hormone receptor isoform 1 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFICATION OF
  LARON SYNDROME
  LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN
  SHORT STATURE, IDIOPATHIC, AUTOSOMAL
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Default View:

EpoR_lig-bind - pfam09067
FN3 - smart00060
FN3 - cd00063




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EpoR_lig-bindpfam090678.7e-0744144
FN3smart000603.8e-08149241

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs6182 Polymorphismp.CYS440PHEN/A
dbSNPrs6180 Polymorphismp.ILE544LEUN/A
dbSNPrs6183 Polymorphismp.PRO495THRN/A
dbSNPrs6184 Polymorphismp.PRO579THRN/A
OMIM600946.0007 Diseasep.ARG154CYSSHORT STATURE, IDIOPATHIC, AUTOSOMAL
OMIM600946.0009 Diseasep.ARG210TERLARON SYNDROME
OMIM600946.0003 Diseasep.ARG36TERLARON SYNDROME
OMIM600946.0021 Diseasep.ASP145HISLARON SYNDROME
OMIM600946.0032 Diseasep.CYS87SERLARON SYNDROME
OMIM600946.0004 Diseasep.CYS31TERLARON SYNDROME
OMIM600946.0029 Diseasep.CYS76TERLARON SYNDROME
OMIM600946.0005 Diseasep.GAA173GAGLARON SYNDROME
OMIM600946.0023 Diseasep.GLN147PROLARON SYNDROME
OMIM600946.0008 Diseasep.GLU217ASPSHORT STATURE, IDIOPATHIC, AUTOSOMAL
OMIM600946.0006 Diseasep.GLU37LYSSHORT STATURE, IDIOPATHIC, AUTOSOMAL
OMIM600946.0016 Diseasep.GLU217TERLARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN
OMIM600946.0033 Diseasep.HIS143GLNLARON SYNDROME
OMIM600946.0022 Diseasep.ILE146THRLARON SYNDROME
OMIM600946.0028 Diseasep.LEU519ILEHYPERCHOLESTEROLEMIA, FAMILIAL, MODIFICATION OF
OMIM600946.0002 Diseasep.PHE89SERLARON SYNDROME
OMIM600946.0019 Diseasep.PRO124GLNLARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN
OMIM600946.0027 Diseasep.TRP9TERLARON SYNDROME
OMIM600946.0024 Diseasep.VAL148GLYLARON SYNDROME
OMIM600946.0020 Diseasep.VAL137ILESHORT STATURE, IDIOPATHIC, AUTOSOMAL



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