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Results for the Protein: P51168
8928561

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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12
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1
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Swiss-Prot Protein: P51168
Identical to: NP_000327
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_015836Polymorphismp.ALA336PRON/A
Swiss-ProtVAR_036480Polymorphismp.ALA311VALN/A
Swiss-ProtVAR_036481Polymorphismp.ALA314VALN/A
Swiss-ProtVAR_015840Polymorphismp.ARG624CYSN/A
Swiss-ProtVAR_026519Polymorphismp.ARG563GLNN/A
Swiss-ProtVAR_015839Polymorphismp.ARG597HISN/A
Swiss-ProtVAR_062403Diseasep.ASN288SERBronchiectasis with or without elevated sweat chloride 1 (BESC1)
Swiss-ProtVAR_015841Polymorphismp.GLU632GLYN/A
Swiss-ProtVAR_062407Diseasep.GLU539LYSBronchiectasis with or without elevated sweat chloride 1 (BESC1)
Swiss-ProtVAR_062404Diseasep.GLY294SERBronchiectasis with or without elevated sweat chloride 1 (BESC1)
Swiss-ProtVAR_007127Diseasep.GLY37SERPseudohypoaldosteronism 1, autosomal recessive (PHA1B)
Swiss-ProtVAR_015838Polymorphismp.GLY589SERN/A
dbSNPrs1799980 Polymorphismp.GLY442VALN/A
Swiss-ProtVAR_036482Polymorphismp.LEU387VALN/A
Swiss-ProtVAR_026521Diseasep.PRO618ARGLiddle syndrome (LIDDS)
Swiss-ProtVAR_062402Diseasep.PRO267LEUBronchiectasis with or without elevated sweat chloride 1 (BESC1)
Swiss-ProtVAR_007128Diseasep.PRO616LEULiddle syndrome (LIDDS)
Swiss-ProtVAR_007129Diseasep.PRO616SERLiddle syndrome (LIDDS)
Swiss-ProtVAR_026520Diseasep.PRO617SERLiddle syndrome (LIDDS)
Swiss-ProtVAR_062406Diseasep.PRO369THRBronchiectasis with or without elevated sweat chloride 1 (BESC1)
Swiss-ProtVAR_062401Diseasep.SER82CYSBronchiectasis with or without elevated sweat chloride 1 (BESC1)
Swiss-ProtVAR_014892Polymorphismp.THR594METN/A
Swiss-ProtVAR_026522Diseasep.TYR620HISLiddle syndrome (LIDDS)
Swiss-ProtVAR_062405Diseasep.VAL348METBronchiectasis with or without elevated sweat chloride 1 (BESC1)
Swiss-ProtVAR_015837Polymorphismp.VAL434METN/A
OMIM600760.0001 Diseasep.ARG564TERLIDDLE SYNDROME
OMIM600760.0014 Diseasep.ASN288SERBRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
OMIM600760.0012 Diseasep.GLU539LYSBRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
OMIM600760.0011 Diseasep.GLY294SERBRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
OMIM600760.0003 Diseasep.GLY37SERPSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE
OMIM600760.0008 Diseasep.PRO616ARGLIDDLE SYNDROME
OMIM600760.0009 Diseasep.PRO267LEUBRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
OMIM600760.0002 Diseasep.PRO616LEULIDDLE SYNDROME
OMIM600760.0007 Diseasep.PRO615SERLIDDLE SYNDROME
OMIM600760.0013 Diseasep.PRO369THRBRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
OMIM600760.0015 Diseasep.SER82CYSBRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
OMIM600760.0004 Diseasep.TYR618HISLIDDLE SYNDROME



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