Results for the protein: P51170

Results for the Protein: P51170

108885072

6340

SCNN1G

NCBI, UniProt

SCNNG_HUMAN RecName: Full=Amiloride-sensitive sodium channel subunit gamma; AltName: Full=Epithelial Na(+) channel subunit gamma; Short=ENaCG; Short=Gamma-ENaC; AltName: Full=Gamma-NaCH; AltName: Full=Nonvoltage-gated sodium channel 1 subunit gamma; AltName: Full=SCNEG

Known Diseases associated with this Protein:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3
LIDDLE SYNDROME

3

8

3

3

5

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: ASC - pfam00858	Swiss-Prot Protein: P51170 Identical to: NP_001030 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_015843	Polymorphism	p.ALA502PRO	N/A
Swiss-Prot	VAR_015844	Polymorphism	p.ALA614SER	N/A
Swiss-Prot	VAR_015842	Polymorphism	p.ARG178TRP	N/A
dbSNP	rs5738	Polymorphism	p.GLU197LYS	N/A
Swiss-Prot	VAR_036483	Polymorphism	p.GLY58ARG	N/A
Swiss-Prot	VAR_014893	Polymorphism	p.GLY49CYS	N/A
dbSNP	rs5736	Polymorphism	p.GLY183SER	N/A
dbSNP	rs72647529	Polymorphism	p.GLY489SER	N/A
OMIM	600761.0006	Disease	p.GLU197LYS	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3
OMIM	600761.0005	Disease	p.GLY183SER	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3
OMIM	600761.0001	Disease	p.TRP574TER	LIDDLE SYNDROME

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258