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Results for the Protein: Q9UQD0
34098756

SCN8A_HUMAN RecName: Full=Sodium channel protein type 8 subunit alpha; AltName: Full=Sodium channel protein type VIII subunit alpha; AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.6

Known Diseases associated with this Protein:
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 (EIEE13)
3
0
2
0
1
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Default View:

Ion_trans - pfam00520
DUF3451 - pfam11933
Na_trans_assoc - pfam06512
IQ - smart00015
IQ - pfam00612


Swiss-Prot Protein: Q9UQD0
Identical to: NP_055006
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_transpfam005201.1e-84160410
Ion_transpfam005209.5e-61787976
Ion_transpfam005203.9e-7912341463
Ion_transpfam005201.9e-6415561765
IQpfam006125.1e-0518961916
DUF3451pfam119331.8e-100478703
Na_trans_assocpfam065121.6e-1129911208
IQsmart000155.5e-0618941916

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067539Diseasep.ASN1768ASPEpileptic encephalopathy, early infantile, 13 (EIEE13)
OMIM600702.0002 Diseasep.ASN1768ASPEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13
OMIM600702.0003 Diseasep.LEU1290VALEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13



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