Results for the protein: P37088

Results for the Protein: P37088

585966

6337

SCNN1A

NCBI, UniProt

SCNNA_HUMAN RecName: Full=Amiloride-sensitive sodium channel subunit alpha; AltName: Full=Alpha-NaCH; AltName: Full=Epithelial Na(+) channel subunit alpha; Short=Alpha-ENaC; Short=ENaCA; AltName: Full=Nonvoltage-gated sodium channel 1 subunit alpha; AltName: Full=SCNEA

Known Diseases associated with this Protein:
  BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
  BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 (BESC2)
  PSEUDOHYPOALDOSTERONISM 1, AUTOSOMAL RECESSIVE (PHA1B)
  PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE

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Default View:	Swiss-Prot Protein: P37088 Identical to: NP_001029 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 ↕
dbSNP	rs11542844	Polymorphism	p.ALA334THR	N/A
Swiss-Prot	VAR_060795	Polymorphism	p.ARG181TRP	N/A
dbSNP	rs3741913	Polymorphism	p.CYS618PHE	N/A
Swiss-Prot	VAR_026518	Disease	p.GLY327CYS	Pseudohypoaldosteronism 1, autosomal recessive (PHA1B)
Swiss-Prot	VAR_060793	Disease	p.PHE61LEU	Bronchiectasis with or without elevated sweat chloride 2 (BESC2)
Swiss-Prot	VAR_052035	Polymorphism	p.PRO402HIS	N/A
Swiss-Prot	VAR_015834	Disease	p.SER562LEU	Pseudohypoaldosteronism 1, autosomal recessive (PHA1B)
dbSNP	rs2228576	Polymorphism	p.THR663ALA	N/A
dbSNP	rs5742912	Polymorphism	p.TRP493ARG	N/A
Swiss-Prot	VAR_060794	Disease	p.VAL114ILE	Bronchiectasis with or without elevated sweat chloride 2 (BESC2)
Swiss-Prot	VAR_060797	Polymorphism	p.VAL573ILE	N/A
OMIM	600228.0008	Disease	p.ARG22CYS	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
OMIM	600228.0002	Disease	p.ARG449TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE
OMIM	600228.0005	Disease	p.SER503LEU	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE
OMIM	600228.0007	Disease	p.TRP434ARG	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
OMIM	600228.0006	Disease	p.VAL55ILE	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2

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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