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Results for the Protein: Q5JWF2
116248089

GNAS1_HUMAN RecName: Full=Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas; AltName: Full=Adenylate cyclase-stimulating G alpha protein; AltName: Full=Extra large alphas protein; Short=XLalphas

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
21
1
19
0
3
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Default View:

G-alpha - pfam00503
G_alpha - smart00275
G-alpha - cd00066
Ras_like_GTPase - cd00882
Arfrp1 - cd04160


Swiss-Prot Protein: Q5JWF2
Identical to: NP_536350
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
G-alphacd000661.3e-1826841033
Ras_like_GTPasecd008821.6e-946881024
Arfrp1cd041600.00026831999
G-alphapfam005039.3e-2026561036
G_alphasmart002753e-1876631035

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_028777Diseasep.ALA436ASPGNAS hyperfunction (GNASHYP)
Swiss-ProtVAR_059656Polymorphismp.ARG1023LEUN/A
Swiss-ProtVAR_028779Diseasep.PRO459ARGGNAS hyperfunction (GNASHYP)
OMIM139320.0019 Diseasep.ALA366SERPSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
OMIM139320.0017 Diseasep.ARG258ALAPSEUDOPSEUDOHYPOPARATHYROIDISM
OMIM139320.0008 Diseasep.ARG201CYSMCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC||PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC, INCLUDED;;||SEX CORD STRO
OMIM139320.0021 Diseasep.ARG201GLYMCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC
OMIM139320.0009 Diseasep.ARG201HISMCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC||PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC, INCLUDED;;||ACTH-INDEPEND
OMIM139320.0020 Diseasep.ARG231HISPSEUDOHYPOPARATHYROIDISM, TYPE IA
OMIM139320.0013 Diseasep.ARG201SERPITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC||POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC, INCLUDED;;||ACTH-IND
OMIM139320.0016 Diseasep.ARG258TRPPSEUDOPSEUDOHYPOPARATHYROIDISM
OMIM139320.0007 Diseasep.CYS165ARGPSEUDOHYPOPARATHYROIDISM, TYPE IA
OMIM139320.0018 Diseasep.GLN170ALAPSEUDOPSEUDOHYPOPARATHYROIDISM
OMIM139320.0010 Diseasep.GLN227ARGPITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC||PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC, INCLUDED
OMIM139320.0012 Diseasep.GLN227HISPITUITARY ADENOMA, ACTH-SECRETING, SOMATIC
OMIM139320.0040 Diseasep.GLU392LYSPSEUDOHYPOPARATHYROIDISM, TYPE IC
OMIM139320.0039 Diseasep.GLU392TERPSEUDOHYPOPARATHYROIDISM, TYPE IC
OMIM139320.0038 Diseasep.LEU388ARGPSEUDOHYPOPARATHYROIDISM, TYPE IC
OMIM139320.0006 Diseasep.LEU99PROPSEUDOHYPOPARATHYROIDISM, TYPE IA
OMIM139320.0001 Diseasep.MET1VALPSEUDOHYPOPARATHYROIDISM, TYPE IA
OMIM139320.0014 Diseasep.SER250ARGPSEUDOHYPOPARATHYROIDISM, TYPE IA
OMIM139320.0036 Diseasep.TYR391TERPSEUDOHYPOPARATHYROIDISM, TYPE IC



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