Results for the protein: NP

Results for the Protein: NP_001153632

237512980

6331

SCN5A

NCBI

sodium channel protein type 5 subunit alpha isoform e [Homo sapiens]

Known Diseases associated with this Protein:
  ATRIAL FIBRILLATION, FAMILIAL, 10
  ATRIAL FIBRILLATION, FAMILIAL, 10, INCLUDED
  ATRIAL STANDSTILL, INCLUDED;;
  BRUGADA SYNDROME 1
  BRUGADA SYNDROME 1, INCLUDED;;
  CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE
  CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCL
  CARDIOMYOPATHY, DILATED, 1E
  LONG QT SYNDROME 2/3, DIGENIC
  LONG QT SYNDROME 3
  LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO
  LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED
  LONG QT SYNDROME 3/6, DIGENIC, INCLUDED
  PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
  SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
  SINUS NODE DISEASE, INCLUDED
  SUDDEN INFANT DEATH SYNDROME, INCLUDED
  VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL

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Tips:

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

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

Default View: Ion_trans - pfam00520 DUF3451 - pfam11933 Na_trans_assoc - pfam06512	RefSeq Protein: NP_001153632 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	6.7e-57	751	938
Ion_trans	pfam00520	1.9e-74	1240	1468
Ion_trans	pfam00520	2.6e-40	1561	1738
DUF3451	pfam11933	1.4e-72	461	668
Na_trans_assoc	pfam06512	8.7e-112	953	1214

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6791924	Polymorphism	p.ARG34CYS	N/A
dbSNP	rs61737825	Polymorphism	p.ARG971CYS	N/A
dbSNP	rs41261344	Polymorphism	p.ARG1192GLN	N/A
dbSNP	rs1805124	Polymorphism	p.HIS558ARG	N/A
dbSNP	rs7626962	Polymorphism	p.SER1102TYR	N/A
dbSNP	rs41315493	Polymorphism	p.VAL1918LEU	N/A
OMIM	600163.0019	Disease	p.ALA997SER	LONG QT SYNDROME 3
OMIM	600163.0012	Disease	p.ALA1891THR	BRUGADA SYNDROME 1
OMIM	600163.0022	Disease	p.ALA735VAL	BRUGADA SYNDROME 1
OMIM	600163.0023	Disease	p.ARG1192GLN	BRUGADA SYNDROME 1\|\|LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED
OMIM	600163.0007	Disease	p.ARG1590GLN	LONG QT SYNDROME 3\|\|LONG QT SYNDROME 3/6, DIGENIC, INCLUDED
OMIM	600163.0046	Disease	p.ARG222GLN	CARDIOMYOPATHY, DILATED, 1E
OMIM	600163.0002	Disease	p.ARG1611HIS	LONG QT SYNDROME 3
OMIM	600163.0020	Disease	p.ARG1793HIS	LONG QT SYNDROME 3
OMIM	600163.0021	Disease	p.ARG367HIS	BRUGADA SYNDROME 1
OMIM	600163.0028	Disease	p.ARG1590TER	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
OMIM	600163.0004	Disease	p.ARG1231TRP	BRUGADA SYNDROME 1
OMIM	600163.0011	Disease	p.ARG1511TRP	BRUGADA SYNDROME 1
OMIM	600163.0041	Disease	p.ASN1953LYS	ATRIAL FIBRILLATION, FAMILIAL, 10
OMIM	600163.0043	Disease	p.ASN470LYS	ATRIAL FIBRILLATION, FAMILIAL, 10
OMIM	600163.0003	Disease	p.ASN1324SER	LONG QT SYNDROME 3
OMIM	600163.0017	Disease	p.ASP1ASN	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
OMIM	600163.0034	Disease	p.ASP1274ASN	CARDIOMYOPATHY, DILATED, 1E\|\|ATRIAL STANDSTILL, INCLUDED;;\|\|ATRIAL FIBRILLATION, FAMILIAL, 10, INCLUDED
OMIM	600163.0035	Disease	p.ASP1786ASN	LONG QT SYNDROME 2/3, DIGENIC
OMIM	600163.0039	Disease	p.ASP1HIS	CARDIOMYOPATHY, DILATED, 1E
OMIM	600163.0018	Disease	p.GLN298SER	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
OMIM	600163.0033	Disease	p.GLU1053LYS	BRUGADA SYNDROME 1\|\|ATRIAL FIBRILLATION, FAMILIAL, 10, INCLUDED
OMIM	600163.0008	Disease	p.GLU1751LYS	LONG QT SYNDROME 3\|\|BRUGADA SYNDROME 1, INCLUDED;;\|\|SINUS NODE DISEASE, INCLUDED
OMIM	600163.0044	Disease	p.GLU428LYS	ATRIAL FIBRILLATION, FAMILIAL, 10
OMIM	600163.0045	Disease	p.GLU655LYS	ATRIAL FIBRILLATION, FAMILIAL, 10
OMIM	600163.0026	Disease	p.GLY1407ARG	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE\|\|BRUGADA SYNDROME 1, INCLUDED;;\|\|CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCL
OMIM	600163.0016	Disease	p.GLY514CYS	CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE
OMIM	600163.0032	Disease	p.GLY1261SER	BRUGADA SYNDROME 1
OMIM	600163.0031	Disease	p.HIS558ARG	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
OMIM	600163.0042	Disease	p.HIS445ASP	ATRIAL FIBRILLATION, FAMILIAL, 10
OMIM	600163.0047	Disease	p.ILE1802THR	CARDIOMYOPATHY, DILATED, 1E
OMIM	600163.0025	Disease	p.PRO1297LEU	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
OMIM	600163.0015	Disease	p.SER941ASN	LONG QT SYNDROME 3
OMIM	600163.0014	Disease	p.SER1677LEU	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL
OMIM	600163.0024	Disease	p.SER1102TYR	LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO\|\|SUDDEN INFANT DEATH SYNDROME, INCLUDED
OMIM	600163.0027 600163.0037	Disease	p.THR220ILE	CARDIOMYOPATHY, DILATED, 1E
OMIM	600163.0031	Disease	p.THR512ILE	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
OMIM	600163.0004	Disease	p.THR1587MET	BRUGADA SYNDROME 1
OMIM	600163.0036	Disease	p.TRP1420TER	BRUGADA SYNDROME 1
OMIM	600163.0029	Disease	p.TYR1762CYS	LONG QT SYNDROME 3
OMIM	600163.0030	Disease	p.TYR1762HIS	BRUGADA SYNDROME 1
OMIM	600163.0040	Disease	p.VAL232ILEANDL	BRUGADA SYNDROME 1

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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