Results for the protein: P63092

Results for the Protein: P63092

52000961

2778

GNAS

NCBI, UniProt

GNAS2_HUMAN RecName: Full=Guanine nucleotide-binding protein G(s) subunit alpha isoforms short; AltName: Full=Adenylate cyclase-stimulating G alpha protein

Known Diseases associated with this Protein:
  ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (AIMAH)
  ALBRIGHT HEREDITARY OSTEODYSTROPHY (AHO)
  MCCUNE-ALBRIGHT SYNDROME (MAS)
  PROGRESSIVE OSSEOUS HETEROPLASIA (POH)
  PSEUDOHYPOPARATHYROIDISM 1A (PHP1A)
  PSEUDOHYPOPARATHYROIDISM 1C (PHP1C)

23

5

0

0

28

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Default View: G-alpha - pfam00503 G_alpha - smart00275 G-alpha - cd00066 Ras_like_GTPase - cd00882 Arfrp1 - cd04160	Swiss-Prot Protein: P63092 Identical to: NP_000507 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ras_like_GTPase	cd00882	1.6e-94	45	381
Arfrp1	cd04160	0.00026	188	356
G-alpha	pfam00503	1.7e-207	13	393
G_alpha	smart00275	5.6e-191	20	392

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_017850	Disease	p.ALA366SER	Albright hereditary osteodystrophy (AHO)
Swiss-Prot	VAR_003440	Disease	p.ARG165CYS	Albright hereditary osteodystrophy (AHO)
Swiss-Prot	VAR_003442	Disease	p.ARG201CYS	McCune-Albright syndrome (MAS)
Swiss-Prot	VAR_017844	Disease	p.ARG201GLY	McCune-Albright syndrome (MAS)
Swiss-Prot	VAR_031878	Disease	p.ARG280GLY	Pseudohypoparathyroidism 1A (PHP1A)
Swiss-Prot	VAR_003441	Disease	p.ARG201HIS	McCune-Albright syndrome (MAS)
Swiss-Prot	VAR_017848	Disease	p.ARG231HIS	Albright hereditary osteodystrophy (AHO)
Swiss-Prot	VAR_003444	Disease	p.ARG385HIS	Albright hereditary osteodystrophy (AHO)
Swiss-Prot	VAR_017845	Polymorphism	p.ARG201LEU	N/A
Swiss-Prot	VAR_049358	Polymorphism	p.ARG380LEU	N/A
Swiss-Prot	VAR_031879	Disease	p.ARG280LYS	Pseudohypoparathyroidism 1A (PHP1A)
Swiss-Prot	VAR_017846	Disease	p.ARG201SER	ACTH-independent macronodular adrenal hyperplasia (AIMAH)
Swiss-Prot	VAR_015388	Disease	p.ARG258TRP	Albright hereditary osteodystrophy (AHO)
Swiss-Prot	VAR_031873	Disease	p.ASP156ASN	Pseudohypoparathyroidism 1A (PHP1A)
Swiss-Prot	VAR_003443	Polymorphism	p.GLN227ARG	N/A
Swiss-Prot	VAR_017847	Polymorphism	p.GLN227HIS	N/A
Swiss-Prot	VAR_066388	Disease	p.GLU392LYS	Pseudohypoparathyroidism 1C (PHP1C)
Swiss-Prot	VAR_031877	Disease	p.GLU259VAL	Albright hereditary osteodystrophy (AHO)
Swiss-Prot	VAR_031872	Polymorphism	p.ILE106SER	N/A
Swiss-Prot	VAR_066387	Disease	p.LEU388ARG	Pseudohypoparathyroidism 1C (PHP1C)
Swiss-Prot	VAR_003439	Disease	p.LEU99PRO	Albright hereditary osteodystrophy (AHO)
Swiss-Prot	VAR_031881	Disease	p.LYS338ASN	Pseudohypoparathyroidism 1A (PHP1A)
Swiss-Prot	VAR_031876	Disease	p.PHE246SER	Albright hereditary osteodystrophy (AHO)
Swiss-Prot	VAR_017843	Disease	p.PRO115LEU	Albright hereditary osteodystrophy (AHO)
Swiss-Prot	VAR_017849	Disease	p.SER250ARG	Albright hereditary osteodystrophy (AHO)
Swiss-Prot	VAR_031875	Disease	p.THR242ILE	Albright hereditary osteodystrophy (AHO)
Swiss-Prot	VAR_031880	Disease	p.TRP281ARG	Progressive osseous heteroplasia (POH)
Swiss-Prot	VAR_031874	Disease	p.VAL159MET	Pseudohypoparathyroidism 1A (PHP1A)

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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