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Results for the Protein: P51170
108885072

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
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ASC - pfam00858


Swiss-Prot Protein: P51170
Identical to: NP_001030
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ASCpfam008588.2e-15832552

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_015843Polymorphismp.ALA502PRON/A
Swiss-ProtVAR_015844Polymorphismp.ALA614SERN/A
Swiss-ProtVAR_015842Polymorphismp.ARG178TRPN/A
dbSNPrs5738 Polymorphismp.GLU197LYSN/A
Swiss-ProtVAR_036483Polymorphismp.GLY58ARGN/A
Swiss-ProtVAR_014893Polymorphismp.GLY49CYSN/A
dbSNPrs5736 Polymorphismp.GLY183SERN/A
dbSNPrs72647529 Polymorphismp.GLY489SERN/A
OMIM600761.0006 Diseasep.GLU197LYSBRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3
OMIM600761.0005 Diseasep.GLY183SERBRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3
OMIM600761.0001 Diseasep.TRP574TERLIDDLE SYNDROME



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