Results for the protein: NP

Results for the Protein: NP_001229328

334883127

2690

GHR

NCBI

growth hormone receptor isoform 2 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

20

4

20

4

0

Tips:

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Default View: EpoR_lig-bind - pfam09067 FN3 - smart00060 FN3 - cd00063	RefSeq Protein: NP_001229328 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EpoR_lig-bind	pfam09067	8.7e-07	51	151
FN3	smart00060	3.8e-08	156	248

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6182	Polymorphism	p.CYS447PHE	N/A
dbSNP	rs6180	Polymorphism	p.ILE551LEU	N/A
dbSNP	rs6183	Polymorphism	p.PRO502THR	N/A
dbSNP	rs6184	Polymorphism	p.PRO586THR	N/A
OMIM	600946.0007	Disease	p.ARG161CYS	SHORT STATURE, IDIOPATHIC, AUTOSOMAL
OMIM	600946.0009	Disease	p.ARG217TER	LARON SYNDROME
OMIM	600946.0003	Disease	p.ARG43TER	LARON SYNDROME
OMIM	600946.0021	Disease	p.ASP152HIS	LARON SYNDROME
OMIM	600946.0032	Disease	p.CYS94SER	LARON SYNDROME
OMIM	600946.0004	Disease	p.CYS38TER	LARON SYNDROME
OMIM	600946.0029	Disease	p.CYS83TER	LARON SYNDROME
OMIM	600946.0005	Disease	p.GAA180GAG	LARON SYNDROME
OMIM	600946.0023	Disease	p.GLN154PRO	LARON SYNDROME
OMIM	600946.0008	Disease	p.GLU224ASP	SHORT STATURE, IDIOPATHIC, AUTOSOMAL
OMIM	600946.0006	Disease	p.GLU44LYS	SHORT STATURE, IDIOPATHIC, AUTOSOMAL
OMIM	600946.0016	Disease	p.GLU224TER	LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN
OMIM	600946.0033	Disease	p.HIS150GLN	LARON SYNDROME
OMIM	600946.0022	Disease	p.ILE153THR	LARON SYNDROME
OMIM	600946.0028	Disease	p.LEU526ILE	HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFICATION OF
OMIM	600946.0002	Disease	p.PHE96SER	LARON SYNDROME
OMIM	600946.0019	Disease	p.PRO131GLN	LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN
OMIM	600946.0027	Disease	p.TRP16TER	LARON SYNDROME
OMIM	600946.0024	Disease	p.VAL155GLY	LARON SYNDROME
OMIM	600946.0020	Disease	p.VAL144ILE	SHORT STATURE, IDIOPATHIC, AUTOSOMAL

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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