Results for the protein: NP

Results for the Protein: NP_008851

115583677

6323

SCN1A

NCBI

sodium channel protein type 1 subunit alpha isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  DRAVET SYNDROME
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6
  FEBRILE SEIZURES, FAMILIAL, 3A
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, INCLUDED
  MIGRAINE, FAMILIAL HEMIPLEGIC, 3

18

1

18

1

0

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Default View: Ion_trans - pfam00520 DUF3451 - pfam11933 Na_trans_assoc - pfam06512 IQ - smart00015	RefSeq Protein: NP_008851 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	1.9e-60	791	980
Ion_trans	pfam00520	8.1e-77	1243	1471
Ion_trans	pfam00520	8.1e-69	1564	1774
DUF3451	pfam11933	5.3e-111	484	708
Na_trans_assoc	pfam06512	1.4e-113	995	1217
IQ	smart00015	0.00077	1903	1925

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2298771	Polymorphism	p.ALA1056THR	N/A
OMIM	182389.0023	Disease	p.ALA1658GLU	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6
OMIM	182389.0024	Disease	p.ARG851GLY	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6
OMIM	182389.0001	Disease	p.ARG1637HIS	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
OMIM	182389.0008	Disease	p.ARG222TER	DRAVET SYNDROME
OMIM	182389.0003	Disease	p.ASP188VAL	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
OMIM	182389.0022	Disease	p.GLN1478HIS	MIGRAINE, FAMILIAL HEMIPLEGIC, 3
OMIM	182389.0012	Disease	p.GLN1478LYS	MIGRAINE, FAMILIAL HEMIPLEGIC, 3
OMIM	182389.0005	Disease	p.ILE1645MET	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
OMIM	182389.0009	Disease	p.LEU975PHE	DRAVET SYNDROME
OMIM	182389.0010	Disease	p.LYS1259THR	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
OMIM	182389.0015	Disease	p.MET145THR	FEBRILE SEIZURES, FAMILIAL, 3A
OMIM	182389.0021	Disease	p.PHE1488LEU	MIGRAINE, FAMILIAL HEMIPLEGIC, 3
OMIM	182389.0013	Disease	p.THR1698ILE	DRAVET SYNDROME\|\|GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, INCLUDED
OMIM	182389.0002	Disease	p.THR864MET	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
OMIM	182389.0006	Disease	p.TRP1193ARG	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
OMIM	182389.0011	Disease	p.VAL1417ALA	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
OMIM	182389.0004	Disease	p.VAL1342LEU	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
OMIM	182389.0014	Disease	p.VAL1600PHE	DRAVET SYNDROME\|\|GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, INCLUDED

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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