Results for the protein: P10912

Results for the Protein: P10912

121180

2690

GHR

NCBI, UniProt

GHR_HUMAN RecName: Full=Growth hormone receptor; Short=GH receptor; AltName: Full=Somatotropin receptor; Contains: RecName: Full=Growth hormone-binding protein; Short=GH-binding protein; Short=GHBP; AltName: Full=Serum-binding protein; Flags: Precursor

Known Diseases associated with this Protein:
LARON SYNDROME (LARS)
SHORT STATURE, IDIOPATHIC, AUTOSOMAL (ISSA)

19

9

0

0

28

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Default View: EpoR_lig-bind - pfam09067 FN3 - smart00060 FN3 - cd00063	Swiss-Prot Protein: P10912 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EpoR_lig-bind	pfam09067	8.7e-07	44	144
FN3	smart00060	3.8e-08	149	241

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_002714	Disease	p.ARG179CYS	Short stature, idiopathic, autosomal (ISSA)
Swiss-Prot	VAR_002715	Disease	p.ARG229GLY	Laron syndrome (LARS)
Swiss-Prot	VAR_013937	Polymorphism	p.ARG179HIS	N/A
Swiss-Prot	VAR_013938	Polymorphism	p.ARG229HIS	N/A
Swiss-Prot	VAR_002709	Disease	p.ARG89LYS	Laron syndrome (LARS)
Swiss-Prot	VAR_018436	Disease	p.ASP262ASN	Laron syndrome (LARS)
Swiss-Prot	VAR_002713	Disease	p.ASP170HIS	Laron syndrome (LARS)
Swiss-Prot	VAR_013939	Disease	p.CYS440PHE	Laron syndrome (LARS)
Swiss-Prot	VAR_018426	Disease	p.CYS56SER	Laron syndrome (LARS)
Swiss-Prot	VAR_018432	Disease	p.GLN172PRO	Laron syndrome (LARS)
Swiss-Prot	VAR_002716	Polymorphism	p.GLU242ASP	N/A
Swiss-Prot	VAR_032704	Polymorphism	p.GLU465LYS	N/A
Swiss-Prot	VAR_002708	Disease	p.GLU62LYS	Short stature, idiopathic, autosomal (ISSA)
Swiss-Prot	VAR_013941	Polymorphism	p.ILE544LEU	N/A
Swiss-Prot	VAR_018431	Disease	p.ILE171THR	Laron syndrome (LARS)
Swiss-Prot	VAR_002710	Disease	p.PHE114SER	Laron syndrome (LARS)
Swiss-Prot	VAR_018429	Disease	p.PRO149GLN	Laron syndrome (LARS)
Swiss-Prot	VAR_013940	Polymorphism	p.PRO495THR	N/A
Swiss-Prot	VAR_013942	Polymorphism	p.PRO579THR	N/A
Swiss-Prot	VAR_018435	Disease	p.SER244ILE	Laron syndrome (LARS)
Swiss-Prot	VAR_018427	Disease	p.SER58LEU	Laron syndrome (LARS)
Swiss-Prot	VAR_018428	Disease	p.TRP68ARG	Laron syndrome (LARS)
Swiss-Prot	VAR_018434	Disease	p.TYR226CYS	Laron syndrome (LARS)
Swiss-Prot	VAR_002711	Disease	p.VAL143ALA	Laron syndrome (LARS)
Swiss-Prot	VAR_002712	Disease	p.VAL162ASP	Laron syndrome (LARS)
Swiss-Prot	VAR_018433	Disease	p.VAL173GLY	Laron syndrome (LARS)
Swiss-Prot	VAR_018430	Polymorphism	p.VAL162ILE	N/A
Swiss-Prot	VAR_020002	Polymorphism	p.VAL162PHE	N/A

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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