Results for the protein: P51168

Results for the Protein: P51168

8928561

6338

SCNN1B

NCBI, UniProt

SCNNB_HUMAN RecName: Full=Amiloride-sensitive sodium channel subunit beta; AltName: Full=Beta-NaCH; AltName: Full=Epithelial Na(+) channel subunit beta; Short=Beta-ENaC; Short=ENaCB; AltName: Full=Nonvoltage-gated sodium channel 1 subunit beta; AltName: Full=SCNEB

Known Diseases associated with this Protein:
  BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
  BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 (BESC1)
  LIDDLE SYNDROME
  LIDDLE SYNDROME (LIDDS)
  PSEUDOHYPOALDOSTERONISM 1, AUTOSOMAL RECESSIVE (PHA1B)
  PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE

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Default View:	Swiss-Prot Protein: P51168 Identical to: NP_000327 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_015836	Polymorphism	p.ALA336PRO	N/A
Swiss-Prot	VAR_036480	Polymorphism	p.ALA311VAL	N/A
Swiss-Prot	VAR_036481	Polymorphism	p.ALA314VAL	N/A
Swiss-Prot	VAR_015840	Polymorphism	p.ARG624CYS	N/A
Swiss-Prot	VAR_026519	Polymorphism	p.ARG563GLN	N/A
Swiss-Prot	VAR_015839	Polymorphism	p.ARG597HIS	N/A
Swiss-Prot	VAR_062403	Disease	p.ASN288SER	Bronchiectasis with or without elevated sweat chloride 1 (BESC1)
Swiss-Prot	VAR_015841	Polymorphism	p.GLU632GLY	N/A
Swiss-Prot	VAR_062407	Disease	p.GLU539LYS	Bronchiectasis with or without elevated sweat chloride 1 (BESC1)
Swiss-Prot	VAR_062404	Disease	p.GLY294SER	Bronchiectasis with or without elevated sweat chloride 1 (BESC1)
Swiss-Prot	VAR_007127	Disease	p.GLY37SER	Pseudohypoaldosteronism 1, autosomal recessive (PHA1B)
Swiss-Prot	VAR_015838	Polymorphism	p.GLY589SER	N/A
dbSNP	rs1799980	Polymorphism	p.GLY442VAL	N/A
Swiss-Prot	VAR_036482	Polymorphism	p.LEU387VAL	N/A
Swiss-Prot	VAR_026521	Disease	p.PRO618ARG	Liddle syndrome (LIDDS)
Swiss-Prot	VAR_062402	Disease	p.PRO267LEU	Bronchiectasis with or without elevated sweat chloride 1 (BESC1)
Swiss-Prot	VAR_007128	Disease	p.PRO616LEU	Liddle syndrome (LIDDS)
Swiss-Prot	VAR_007129	Disease	p.PRO616SER	Liddle syndrome (LIDDS)
Swiss-Prot	VAR_026520	Disease	p.PRO617SER	Liddle syndrome (LIDDS)
Swiss-Prot	VAR_062406	Disease	p.PRO369THR	Bronchiectasis with or without elevated sweat chloride 1 (BESC1)
Swiss-Prot	VAR_062401	Disease	p.SER82CYS	Bronchiectasis with or without elevated sweat chloride 1 (BESC1)
Swiss-Prot	VAR_014892	Polymorphism	p.THR594MET	N/A
Swiss-Prot	VAR_026522	Disease	p.TYR620HIS	Liddle syndrome (LIDDS)
Swiss-Prot	VAR_062405	Disease	p.VAL348MET	Bronchiectasis with or without elevated sweat chloride 1 (BESC1)
Swiss-Prot	VAR_015837	Polymorphism	p.VAL434MET	N/A
OMIM	600760.0001	Disease	p.ARG564TER	LIDDLE SYNDROME
OMIM	600760.0014	Disease	p.ASN288SER	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
OMIM	600760.0012	Disease	p.GLU539LYS	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
OMIM	600760.0011	Disease	p.GLY294SER	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
OMIM	600760.0003	Disease	p.GLY37SER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE
OMIM	600760.0008	Disease	p.PRO616ARG	LIDDLE SYNDROME
OMIM	600760.0009	Disease	p.PRO267LEU	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
OMIM	600760.0002	Disease	p.PRO616LEU	LIDDLE SYNDROME
OMIM	600760.0007	Disease	p.PRO615SER	LIDDLE SYNDROME
OMIM	600760.0013	Disease	p.PRO369THR	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
OMIM	600760.0015	Disease	p.SER82CYS	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
OMIM	600760.0004	Disease	p.TYR618HIS	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.

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