Results for the protein: NP

Results for the Protein: NP_001229389

335057499

2690

GHR

NCBI

growth hormone receptor isoform 3 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

17

4

17

4

0

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Default View: EpoR_lig-bind - pfam09067 FN3 - smart00060 FN3 - cd00063	RefSeq Protein: NP_001229389 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EpoR_lig-bind	pfam09067	6.1e-08	22	122
FN3	smart00060	3.8e-08	127	219

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6182	Polymorphism	p.CYS418PHE	N/A
dbSNP	rs6180	Polymorphism	p.ILE522LEU	N/A
dbSNP	rs6183	Polymorphism	p.PRO473THR	N/A
dbSNP	rs6184	Polymorphism	p.PRO557THR	N/A
OMIM	600946.0007	Disease	p.ARG132CYS	SHORT STATURE, IDIOPATHIC, AUTOSOMAL
OMIM	600946.0009	Disease	p.ARG188TER	LARON SYNDROME
OMIM	600946.0021	Disease	p.ASP123HIS	LARON SYNDROME
OMIM	600946.0032	Disease	p.CYS65SER	LARON SYNDROME
OMIM	600946.0029	Disease	p.CYS54TER	LARON SYNDROME
OMIM	600946.0005	Disease	p.GAA151GAG	LARON SYNDROME
OMIM	600946.0023	Disease	p.GLN125PRO	LARON SYNDROME
OMIM	600946.0008	Disease	p.GLU195ASP	SHORT STATURE, IDIOPATHIC, AUTOSOMAL
OMIM	600946.0016	Disease	p.GLU195TER	LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN
OMIM	600946.0033	Disease	p.HIS121GLN	LARON SYNDROME
OMIM	600946.0022	Disease	p.ILE124THR	LARON SYNDROME
OMIM	600946.0028	Disease	p.LEU497ILE	HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFICATION OF
OMIM	600946.0002	Disease	p.PHE67SER	LARON SYNDROME
OMIM	600946.0019	Disease	p.PRO102GLN	LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN
OMIM	600946.0027	Disease	p.TRP9TER	LARON SYNDROME
OMIM	600946.0024	Disease	p.VAL126GLY	LARON SYNDROME
OMIM	600946.0020	Disease	p.VAL115ILE	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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