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Results for the Protein: Q99250
25014053

SCN2A_HUMAN RecName: Full=Sodium channel protein type 2 subunit alpha; AltName: Full=HBSC II; AltName: Full=Sodium channel protein brain II subunit alpha; AltName: Full=Sodium channel protein type II subunit alpha; AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.2

Known Diseases associated with this Protein:
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (EIEE11)
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, MILD
  SEIZURES, BENIGN FAMILIAL INFANTILE 3 (BFIS3)
  SEIZURES, BENIGN FAMILIAL INFANTILE, 3
37
8
11
3
31
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Default View:

Ion_trans - pfam00520
DUF3451 - pfam11933
Na_trans_assoc - pfam06512
IQ - smart00015


Swiss-Prot Protein: Q99250
Identical to: NP_001035232, NP_066287
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_transpfam005205.8e-90157424
Ion_transpfam005207.4e-61793982
Ion_transpfam005204.9e-7312441472
Ion_transpfam005201.5e-6815651775
DUF3451pfam119332.4e-97488710
Na_trans_assocpfam065127.1e-1249971218
IQsmart000150.0001719041926

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_070000Diseasep.ALA263THREpileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-ProtVAR_065178Diseasep.ALA263VALEpileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-ProtVAR_065179Polymorphismp.ALA575VALN/A
Swiss-ProtVAR_029739Diseasep.ARG1319GLNSeizures, benign familial infantile 3 (BFIS3)
Swiss-ProtVAR_029734Diseasep.ARG223GLNSeizures, benign familial infantile 3 (BFIS3)
Swiss-ProtVAR_029736Polymorphismp.ARG524GLNN/A
Swiss-ProtVAR_070001Diseasep.ARG853GLNEpileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-ProtVAR_070010Diseasep.ARG1629LEUEpileptic encephalopathy, early infantile, 11 (EIEE11)
dbSNPrs17183814 Polymorphismp.ARG19LYSN/A
Swiss-ProtVAR_029742Polymorphismp.ARG1902THRN/A
Swiss-ProtVAR_029733Diseasep.ARG188TRPSeizures, benign familial infantile 3 (BFIS3)
Swiss-ProtVAR_069997Diseasep.ASN212ASPEpileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-ProtVAR_070002Diseasep.ASN876THREpileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-ProtVAR_069996Diseasep.GLU169GLYEpileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-ProtVAR_065180Diseasep.GLU1211LYSEpileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-ProtVAR_070003Diseasep.GLU999LYSEpileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-ProtVAR_065181Diseasep.ILE1473METEpileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-ProtVAR_029738Diseasep.LEU1003ILESeizures, benign familial infantile 3 (BFIS3)
Swiss-ProtVAR_029740Diseasep.LEU1330PHESeizures, benign familial infantile 3 (BFIS3)
Swiss-ProtVAR_029741Diseasep.LEU1563VALSeizures, benign familial infantile 3 (BFIS3)
dbSNPrs2228980 Polymorphismp.LYS908ARGN/A
Swiss-ProtVAR_070008Polymorphismp.LYS1422GLUN/A
Swiss-ProtVAR_070007Diseasep.MET1338THREpileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-ProtVAR_070004Diseasep.MET1323VALEpileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-ProtVAR_065176Diseasep.MET252VALSeizures, benign familial infantile 3 (BFIS3)
dbSNPrs2228988 Polymorphismp.PHE385TYRN/A
Swiss-ProtVAR_064331Polymorphismp.PHE328VALN/A
Swiss-ProtVAR_070006Diseasep.SER1336TYREpileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-ProtVAR_070009Diseasep.THR1623ASNEpileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-ProtVAR_069999Diseasep.THR236SEREpileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-ProtVAR_069998Diseasep.VAL213ASPEpileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-ProtVAR_029737Diseasep.VAL892ILESeizures, benign familial infantile 3 (BFIS3)
Swiss-ProtVAR_070005Diseasep.VAL1326LEUEpileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-ProtVAR_065177Diseasep.VAL261METSeizures, benign familial infantile 3 (BFIS3)
OMIM182390.0011 Diseasep.ALA263VALEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, MILD
OMIM182390.0006 Diseasep.ARG1319GLNSEIZURES, BENIGN FAMILIAL INFANTILE, 3
OMIM182390.0008 Diseasep.ARG102TEREPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
OMIM182390.0001 Diseasep.ARG188TRPSEIZURES, BENIGN FAMILIAL INFANTILE, 3
OMIM182390.0009 Diseasep.GLU1211LYSEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
OMIM182390.0010 Diseasep.ILE1473METEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
OMIM182390.0007 Diseasep.LEU1003ILESEIZURES, BENIGN FAMILIAL INFANTILE, 3
OMIM182390.0002 Diseasep.LEU1330PHESEIZURES, BENIGN FAMILIAL INFANTILE, 3
OMIM182390.0003 Diseasep.LEU1563VALSEIZURES, BENIGN FAMILIAL INFANTILE, 3
OMIM182390.0012 Diseasep.MET252VALSEIZURES, BENIGN FAMILIAL INFANTILE, 3
OMIM182390.0004 Diseasep.VAL892ILESEIZURES, BENIGN FAMILIAL INFANTILE, 3



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