Results for the protein: P35499

Results for the Protein: P35499

292495096

6329

SCN4A

NCBI, UniProt

SCN4A_HUMAN RecName: Full=Sodium channel protein type 4 subunit alpha; AltName: Full=SkM1; AltName: Full=Sodium channel protein skeletal muscle subunit alpha; AltName: Full=Sodium channel protein type IV subunit alpha; AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.4

Known Diseases associated with this Protein:
  HYPERKALEMIC PERIODIC PARALYSIS
  HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
  MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE
  MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE (CMSAR)
  MYOTONIA CONGENITA, ATYPICAL
  MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE
  MYOTONIA FLUCTUANS
  MYOTONIA FLUCTUANS, INCLUDED
  MYOTONIA PERMANENS
  MYOTONIA SCN4A-RELATED (MYOSCN4A)
  MYOTONIA, POTASSIUM-AGGRAVATED
  MYOTONIA, POTASSIUM-AGGRAVATED, INCLUDED
  NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE
  PARAMYOTONIA CONGENITA
  PARAMYOTONIA CONGENITA OF VON EULENBURG (PMC)
  PARAMYOTONIA CONGENITA, INCLUDED
  PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
  PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS, INCLUDED
  PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA
  PERIODIC PARALYSIS HYPERKALEMIC (HYPP)
  PERIODIC PARALYSIS HYPOKALEMIC 2 (HOKPP2)
  PERIODIC PARALYSIS NORMOKALEMIC (NKPP)

78

6

30

2

52

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Default View: Ion_trans - pfam00520 Na_trans_assoc - pfam06512	Swiss-Prot Protein: P35499 Identical to: NP_000325 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	2.2e-60	612	801
Ion_trans	pfam00520	3.4e-76	1067	1294
Ion_trans	pfam00520	3.6e-65	1387	1597
Na_trans_assoc	pfam06512	1.4e-92	816	1041

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_022341	Disease	p.ALA1152ASP	Paramyotonia congenita of von Eulenburg (PMC)
Swiss-Prot	VAR_054951	Disease	p.ALA1481ASP	Myotonia SCN4A-related (MYOSCN4A)
Swiss-Prot	VAR_001564	Polymorphism	p.ALA861ASP	N/A
Swiss-Prot	VAR_001565	Disease	p.ALA1156THR	Periodic paralysis hyperkalemic (HYPP)
Swiss-Prot	VAR_054940	Disease	p.ALA715THR	Myotonia SCN4A-related (MYOSCN4A)
Swiss-Prot	VAR_001572	Disease	p.ARG1448CYS	Paramyotonia congenita of von Eulenburg (PMC)
Swiss-Prot	VAR_054939	Disease	p.ARG672CYS	Periodic paralysis hypokalemic 2 (HOKPP2)
Swiss-Prot	VAR_064987	Disease	p.ARG1129GLN	Periodic paralysis normokalemic (NKPP)
Swiss-Prot	VAR_054943	Disease	p.ARG1132GLN	Periodic paralysis hypokalemic 2 (HOKPP2)
Swiss-Prot	VAR_037105	Disease	p.ARG675GLN	Periodic paralysis normokalemic (NKPP)
Swiss-Prot	VAR_017789	Disease	p.ARG672GLY	Periodic paralysis hypokalemic 2 (HOKPP2)
Swiss-Prot	VAR_037104	Disease	p.ARG675GLY	Periodic paralysis normokalemic (NKPP)
Swiss-Prot	VAR_054944	Disease	p.ARG1135HIS	Periodic paralysis hypokalemic 2 (HOKPP2)
Swiss-Prot	VAR_001573	Disease	p.ARG1448HIS	Paramyotonia congenita of von Eulenburg (PMC)
Swiss-Prot	VAR_017788	Disease	p.ARG669HIS	Periodic paralysis hypokalemic 2 (HOKPP2)
Swiss-Prot	VAR_017790	Disease	p.ARG672HIS	Periodic paralysis hypokalemic 2 (HOKPP2)
Swiss-Prot	VAR_054948	Disease	p.ARG1448LEU	Paramyotonia congenita of von Eulenburg (PMC)
Swiss-Prot	VAR_017791	Disease	p.ARG672SER	Periodic paralysis hypokalemic 2 (HOKPP2)
Swiss-Prot	VAR_054935	Disease	p.ARG222TRP	Periodic paralysis hypokalemic 2 (HOKPP2)
Swiss-Prot	VAR_065230	Disease	p.ARG225TRP	Myotonia SCN4A-related (MYOSCN4A)
Swiss-Prot	VAR_037106	Disease	p.ARG675TRP	Periodic paralysis normokalemic (NKPP)
dbSNP	rs2058194	Polymorphism	p.ASN1376ASP	N/A
Swiss-Prot	VAR_017787	Polymorphism	p.ASN559ASP	N/A
Swiss-Prot	VAR_054945	Disease	p.ASN1297LYS	Myotonia SCN4A-related (MYOSCN4A)
Swiss-Prot	VAR_054936	Disease	p.GLN270LYS	Paramyotonia congenita of von Eulenburg (PMC)
Swiss-Prot	VAR_054937	Disease	p.GLU452LYS	Myotonia SCN4A-related (MYOSCN4A)
Swiss-Prot	VAR_001567	Disease	p.GLY1306ALA	Paramyotonia congenita of von Eulenburg (PMC)
Swiss-Prot	VAR_001568	Disease	p.GLY1306GLU	Paramyotonia congenita of von Eulenburg (PMC)
Swiss-Prot	VAR_037107	Disease	p.GLY1456GLU	Paramyotonia congenita of von Eulenburg (PMC)
Swiss-Prot	VAR_001569	Disease	p.GLY1306VAL	Paramyotonia congenita of von Eulenburg (PMC)
Swiss-Prot	VAR_054946	Disease	p.ILE1310ASN	Myotonia SCN4A-related (MYOSCN4A)
Swiss-Prot	VAR_065231	Disease	p.ILE693THR	Paramyotonia congenita of von Eulenburg (PMC)
Swiss-Prot	VAR_017793	Disease	p.ILE1160VAL	Myotonia SCN4A-related (MYOSCN4A)
Swiss-Prot	VAR_054934	Disease	p.ILE141VAL	Myotonia SCN4A-related (MYOSCN4A)
Swiss-Prot	VAR_001571	Disease	p.LEU1433ARG	Periodic paralysis hyperkalemic (HYPP)
Swiss-Prot	VAR_054947	Disease	p.LEU1436PRO	Paramyotonia congenita of von Eulenburg (PMC)
Swiss-Prot	VAR_054950	Disease	p.MET1476ILE	Myotonia SCN4A-related (MYOSCN4A)
Swiss-Prot	VAR_001560	Polymorphism	p.MET135VAL	N/A
Swiss-Prot	VAR_001575	Disease	p.MET1592VAL	Periodic paralysis normokalemic (NKPP)
Swiss-Prot	VAR_054952	Disease	p.PHE1705ILE	Paramyotonia congenita of von Eulenburg (PMC)
Swiss-Prot	VAR_054949	Disease	p.PHE1473SER	Paramyotonia congenita of von Eulenburg (PMC)
Swiss-Prot	VAR_054938	Disease	p.PHE671SER	Myotonia SCN4A-related (MYOSCN4A)
Swiss-Prot	VAR_017792	Disease	p.PRO1158SER	Periodic paralysis hypokalemic 2 (HOKPP2)
Swiss-Prot	VAR_054942	Disease	p.SER804ASN	Myotonia SCN4A-related (MYOSCN4A)
dbSNP	rs6504191	Polymorphism	p.SER524GLY	N/A
Swiss-Prot	VAR_017785	Polymorphism	p.SER246LEU	N/A
Swiss-Prot	VAR_001563	Disease	p.SER804PHE	Paramyotonia congenita of von Eulenburg (PMC)
Swiss-Prot	VAR_001570	Disease	p.THR1313MET	Paramyotonia congenita of von Eulenburg (PMC)
Swiss-Prot	VAR_001562	Disease	p.THR704MET	Periodic paralysis hyperkalemic (HYPP)
Swiss-Prot	VAR_017795	Disease	p.VAL1442GLU	Myasthenic syndrome, congenital, acetazolamide-responsive (CMSAR)
Swiss-Prot	VAR_001566	Disease	p.VAL1293ILE	Paramyotonia congenita of von Eulenburg (PMC)
Swiss-Prot	VAR_054941	Disease	p.VAL781ILE	Periodic paralysis normokalemic (NKPP)
Swiss-Prot	VAR_001574	Disease	p.VAL1589MET	Paramyotonia congenita of von Eulenburg (PMC)
Swiss-Prot	VAR_017786	Disease	p.VAL445MET	Myotonia SCN4A-related (MYOSCN4A)
OMIM	603967.0005	Disease	p.ALA1156THR	PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
OMIM	603967.0003	Disease	p.ARG1448CYS	PARAMYOTONIA CONGENITA
OMIM	603967.0030	Disease	p.ARG1132GLN	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
OMIM	603967.0023	Disease	p.ARG675GLN	NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE
OMIM	603967.0017	Disease	p.ARG672GLY	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
OMIM	603967.0022	Disease	p.ARG675GLY	NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE
OMIM	603967.0004	Disease	p.ARG1448HIS	PARAMYOTONIA CONGENITA
OMIM	603967.0015	Disease	p.ARG669HIS	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
OMIM	603967.0016	Disease	p.ARG672HIS	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
OMIM	603967.0020	Disease	p.ARG672SER	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
OMIM	603967.0024	Disease	p.ARG675TRP	NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE
OMIM	603967.0027	Disease	p.ASN1297LYS	PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
OMIM	603967.0012	Disease	p.GLY1306ALA	MYOTONIA FLUCTUANS
OMIM	603967.0025	Disease	p.GLY1306GLU	MYOTONIA PERMANENS
OMIM	603967.0019	Disease	p.GLY1456GLU	PARAMYOTONIA CONGENITA
OMIM	603967.0007	Disease	p.GLY1306VAL	PARAMYOTONIA CONGENITA\|\|MYOTONIA, POTASSIUM-AGGRAVATED, INCLUDED
OMIM	603967.0028	Disease	p.ILE693THR	PARAMYOTONIA CONGENITA
OMIM	603967.0010	Disease	p.ILE1160VAL	MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE
OMIM	603967.0029	Disease	p.ILE141VAL	PARAMYOTONIA CONGENITA
OMIM	603967.0011	Disease	p.LEU1433ARG	PARAMYOTONIA CONGENITA
OMIM	603967.0026	Disease	p.MET1476ILE	PARAMYOTONIA CONGENITA
OMIM	603967.0002	Disease	p.MET1592VAL	HYPERKALEMIC PERIODIC PARALYSIS\|\|PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS, INCLUDED
OMIM	603967.0021	Disease	p.PRO1158SER	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
OMIM	603967.0006	Disease	p.SER804PHE	PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA\|\|MYOTONIA FLUCTUANS, INCLUDED
OMIM	603967.0008	Disease	p.THR1313MET	PARAMYOTONIA CONGENITA
OMIM	603967.0001	Disease	p.THR704MET	HYPERKALEMIC PERIODIC PARALYSIS\|\|PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS, INCLUDED
OMIM	603967.0018	Disease	p.VAL1442GLU	MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE
OMIM	603967.0013	Disease	p.VAL1293ILE	PARAMYOTONIA CONGENITA
OMIM	603967.0009	Disease	p.VAL1589MET	MYOTONIA, POTASSIUM-AGGRAVATED\|\|PARAMYOTONIA CONGENITA, INCLUDED
OMIM	603967.0014	Disease	p.VAL445MET	MYOTONIA CONGENITA, ATYPICAL

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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