Results for the protein: NP

Results for the Protein: NP_001153048

227430289

6337

SCNN1A

NCBI

amiloride-sensitive sodium channel subunit alpha isoform 2 [Homo sapiens]

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

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Default View: ASC - pfam00858	RefSeq Protein: NP_001153048 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.ALA393THR	N/A
dbSNP	rs3741913	Polymorphism	p.CYS677PHE	N/A
dbSNP	rs2228576	Polymorphism	p.THR722ALA	N/A
dbSNP	rs5742912	Polymorphism	p.TRP552ARG	N/A
OMIM	600228.0008	Disease	p.ARG81CYS	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
OMIM	600228.0002	Disease	p.ARG508TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE
OMIM	600228.0005	Disease	p.SER562LEU	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE
OMIM	600228.0007	Disease	p.TRP493ARG	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
OMIM	600228.0006	Disease	p.VAL114ILE	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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