Results for the protein: P84996

Results for the Protein: P84996

116242967

2778

GNAS

NCBI, UniProt

ALEX_HUMAN RecName: Full=Protein ALEX; AltName: Full=Alternative gene product encoded by XL-exon

Known Diseases associated with this Protein:
  ACTH-IND
  ACTH-INDEPEND
  GNAS HYPERFUNCTION (GNASHYP)
  MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC
  PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC
  PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC, INCLUDED
  PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC
  PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC, INCLUDED;;
  POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC, INCLUDED;;
  PSEUDOHYPOPARATHYROIDISM, TYPE IA
  PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
  PSEUDOHYPOPARATHYROIDISM, TYPE IC
  PSEUDOPSEUDOHYPOPARATHYROIDISM
  SEX CORD STRO

20

3

18

1

4

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Default View:	Swiss-Prot Protein: P84996 Identical to: NP_001070958 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_035788	Polymorphism	p.ARG201CYS	N/A
Swiss-Prot	VAR_035789	Polymorphism	p.ARG201HIS	N/A
dbSNP	rs74934823	Polymorphism	p.ARG147LYS	N/A
Swiss-Prot	VAR_028776	Disease	p.LEU397VAL	GNAS hyperfunction (GNASHYP)
Swiss-Prot	VAR_028774	Disease	p.PRO374THR	GNAS hyperfunction (GNASHYP)
OMIM	139320.0019	Disease	p.ALA303SER	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
OMIM	139320.0017	Disease	p.ARG195ALA	PSEUDOPSEUDOHYPOPARATHYROIDISM
OMIM	139320.0008	Disease	p.ARG138CYS	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC\|\|PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC, INCLUDED;;\|\|SEX CORD STRO
OMIM	139320.0021	Disease	p.ARG138GLY	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC
OMIM	139320.0009	Disease	p.ARG138HIS	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC\|\|PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC, INCLUDED;;\|\|ACTH-INDEPEND
OMIM	139320.0020	Disease	p.ARG168HIS	PSEUDOHYPOPARATHYROIDISM, TYPE IA
OMIM	139320.0013	Disease	p.ARG138SER	PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC\|\|POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC, INCLUDED;;\|\|ACTH-IND
OMIM	139320.0016	Disease	p.ARG195TRP	PSEUDOPSEUDOHYPOPARATHYROIDISM
OMIM	139320.0007	Disease	p.CYS102ARG	PSEUDOHYPOPARATHYROIDISM, TYPE IA
OMIM	139320.0018	Disease	p.GLN107ALA	PSEUDOPSEUDOHYPOPARATHYROIDISM
OMIM	139320.0010	Disease	p.GLN164ARG	PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC\|\|PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC, INCLUDED
OMIM	139320.0012	Disease	p.GLN164HIS	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC
OMIM	139320.0040	Disease	p.GLU329LYS	PSEUDOHYPOPARATHYROIDISM, TYPE IC
OMIM	139320.0039	Disease	p.GLU329TER	PSEUDOHYPOPARATHYROIDISM, TYPE IC
OMIM	139320.0038	Disease	p.LEU325ARG	PSEUDOHYPOPARATHYROIDISM, TYPE IC
OMIM	139320.0006	Disease	p.LEU36PRO	PSEUDOHYPOPARATHYROIDISM, TYPE IA
OMIM	139320.0014	Disease	p.SER187ARG	PSEUDOHYPOPARATHYROIDISM, TYPE IA
OMIM	139320.0036	Disease	p.TYR328TER	PSEUDOHYPOPARATHYROIDISM, TYPE IC

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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