Results for the protein: Q15858

Results for the Protein: Q15858

327478559

6335

SCN9A

NCBI, UniProt

SCN9A_HUMAN RecName: Full=Sodium channel protein type 9 subunit alpha; AltName: Full=Neuroendocrine sodium channel; Short=hNE-Na; AltName: Full=Peripheral sodium channel 1; Short=PN1; AltName: Full=Sodium channel protein type IX subunit alpha; AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.7

Known Diseases associated with this Protein:
  CONGENITAL INDIFFERENCE TO PAIN AUTOSOMAL RECESSIVE (CIPAR)
  FEBRILE SEIZURES, FAMILIAL, 3B (FEB3B)
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS 7 (GEFS+7)
  PAROXYSMAL EXTREME PAIN DISORDER (PEPD)
  PRIMARY ERYTHERMALGIA (PERYTHM)

22

13

0

0

35

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Default View: Ion_trans - pfam00520 DUF3451 - pfam11933 Na_trans_assoc - pfam06512 IQ - smart00015	Swiss-Prot Protein: Q15858 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	1.3e-58	778	967
Ion_trans	pfam00520	6.6e-72	1228	1456
Ion_trans	pfam00520	8.6e-69	1549	1759
DUF3451	pfam11933	4.4e-105	463	695
Na_trans_assoc	pfam06512	3e-105	982	1202
IQ	smart00015	5.4e-05	1888	1910

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_032015	Disease	p.ARG1007CYS	Paroxysmal extreme pain disorder (PEPD)
Swiss-Prot	VAR_064610	Disease	p.ARG907GLN	Congenital indifference to pain autosomal recessive (CIPAR)
Swiss-Prot	VAR_064600	Disease	p.ASN395LYS	Primary erythermalgia (PERYTHM)
Swiss-Prot	VAR_064604	Disease	p.ASN641TYR	Generalized epilepsy with febrile seizures plus 7 (GEFS+7)
Swiss-Prot	VAR_019950	Polymorphism	p.ASP1919GLY	N/A
Swiss-Prot	VAR_064607	Polymorphism	p.CYS710TYR	N/A
Swiss-Prot	VAR_064595	Disease	p.GLN10ARG	Primary erythermalgia (PERYTHM)
Swiss-Prot	VAR_064612	Polymorphism	p.GLU1171GLN	N/A
Swiss-Prot	VAR_064601	Disease	p.GLU406LYS	Primary erythermalgia (PERYTHM)
Swiss-Prot	VAR_064603	Polymorphism	p.GLU519LYS	N/A
Swiss-Prot	VAR_064599	Polymorphism	p.ILE228MET	N/A
Swiss-Prot	VAR_064606	Polymorphism	p.ILE695MET	N/A
Swiss-Prot	VAR_032020	Disease	p.ILE1472THR	Paroxysmal extreme pain disorder (PEPD)
Swiss-Prot	VAR_019947	Disease	p.ILE859THR	Primary erythermalgia (PERYTHM)
Swiss-Prot	VAR_064596	Disease	p.ILE62VAL	Febrile seizures, familial, 3B (FEB3B)
Swiss-Prot	VAR_064608	Polymorphism	p.ILE750VAL	N/A
Swiss-Prot	VAR_019948	Disease	p.LEU869HIS	Primary erythermalgia (PERYTHM)
Swiss-Prot	VAR_064611	Polymorphism	p.LEU1134PHE	N/A
Swiss-Prot	VAR_064609	Disease	p.LEU869PHE	Primary erythermalgia (PERYTHM)
Swiss-Prot	VAR_064613	Polymorphism	p.LEU1278VAL	N/A
Swiss-Prot	VAR_064605	Disease	p.LYS666ARG	Generalized epilepsy with febrile seizures plus 7 (GEFS+7)
Swiss-Prot	VAR_030444	Polymorphism	p.MET932LEU	N/A
Swiss-Prot	VAR_055646	Polymorphism	p.MET943LEU	N/A
Swiss-Prot	VAR_032023	Disease	p.MET1638LYS	Paroxysmal extreme pain disorder (PEPD)
Swiss-Prot	VAR_064598	Disease	p.PHE216SER	Primary erythermalgia (PERYTHM)
Swiss-Prot	VAR_032019	Disease	p.PHE1460VAL	Primary erythermalgia (PERYTHM)
Swiss-Prot	VAR_032021	Disease	p.PHE1473VAL	Paroxysmal extreme pain disorder (PEPD)
Swiss-Prot	VAR_064597	Disease	p.PRO149GLN	Febrile seizures, familial, 3B (FEB3B)
Swiss-Prot	VAR_064602	Polymorphism	p.SER490ASN	N/A
Swiss-Prot	VAR_032014	Disease	p.SER241THR	Primary erythermalgia (PERYTHM)
Swiss-Prot	VAR_032022	Disease	p.THR1475ILE	Paroxysmal extreme pain disorder (PEPD)
Swiss-Prot	VAR_019949	Polymorphism	p.TRP1161ARG	N/A
Swiss-Prot	VAR_032016	Disease	p.VAL1309ASP	Paroxysmal extreme pain disorder (PEPD)
Swiss-Prot	VAR_032017	Disease	p.VAL1309PHE	Paroxysmal extreme pain disorder (PEPD)
Swiss-Prot	VAR_032018	Disease	p.VAL1310PHE	Paroxysmal extreme pain disorder (PEPD)

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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