Results for the protein: P35498

Results for the Protein: P35498

12644229

6323

SCN1A

NCBI, UniProt

SCN1A_HUMAN RecName: Full=Sodium channel protein type 1 subunit alpha; AltName: Full=Sodium channel protein brain I subunit alpha; AltName: Full=Sodium channel protein type I subunit alpha; AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.1

Known Diseases associated with this Protein:
  DRAVET SYNDROME
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6
  FEBRILE SEIZURES, FAMILIAL, 3A
  FEBRILE SEIZURES, FAMILIAL, 3A (FEB3A)
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS 2 (GEFS+2)
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, INCLUDED
  INTRACTABLE CHILDHOOD EPILEPSY WITH GENERALIZED TONIC-CLONIC SEIZURES (ICEGTC)
  MIGRAINE, FAMILIAL HEMIPLEGIC, 3
  MIGRAINE, FAMILIAL HEMIPLEGIC, 3 (FHM3)
  SEVERE MYOCLONIC EPILEPSY IN INFANCY (SMEI)

198

18

18

1

197

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Default View: Ion_trans - pfam00520 DUF3451 - pfam11933 Na_trans_assoc - pfam06512 IQ - smart00015	Swiss-Prot Protein: P35498 Identical to: NP_001159435, NP_001189364 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	1.9e-60	802	991
Ion_trans	pfam00520	8.1e-77	1254	1482
Ion_trans	pfam00520	8.1e-69	1575	1785
DUF3451	pfam11933	6.5e-117	484	719
Na_trans_assoc	pfam06512	1.4e-113	1006	1228
IQ	smart00015	0.00077	1914	1936

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_029714	Disease	p.ALA1685ASP	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029698	Disease	p.ALA1326PRO	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064348	Disease	p.ALA1441PRO	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_043356	Polymorphism	p.ALA395PRO	N/A
dbSNP	rs2298771	Polymorphism	p.ALA1067THR	N/A
Swiss-Prot	VAR_064236	Disease	p.ALA175THR	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064275	Disease	p.ALA1783THR	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_043352	Disease	p.ALA239THR	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029715	Disease	p.ALA1685VAL	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_064345	Disease	p.ALA1783VAL	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064239	Disease	p.ALA239VAL	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064318	Polymorphism	p.ARG1575CYS	N/A
Swiss-Prot	VAR_043368	Polymorphism	p.ARG1596CYS	N/A
Swiss-Prot	VAR_029708	Disease	p.ARG1648CYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029709	Disease	p.ARG1657CYS	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_043355	Disease	p.ARG393CYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064306	Disease	p.ARG859CYS	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_029678	Disease	p.ARG931CYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029682	Disease	p.ARG946CYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029661	Disease	p.ARG101GLN	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064311	Disease	p.ARG1245GLN	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_043369	Polymorphism	p.ARG1636GLN	N/A
Swiss-Prot	VAR_064269	Disease	p.ARG1645GLN	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_043354	Disease	p.ARG377GLN	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_029674	Polymorphism	p.ARG542GLN	N/A
Swiss-Prot	VAR_064246	Disease	p.ARG862GLN	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_043371	Polymorphism	p.ARG1928GLY	N/A
Swiss-Prot	VAR_064299	Disease	p.ARG356GLY	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_010111	Disease	p.ARG1648HIS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_043370	Polymorphism	p.ARG1657HIS	N/A
Swiss-Prot	VAR_029672	Disease	p.ARG393HIS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064244	Disease	p.ARG604HIS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029683	Disease	p.ARG946HIS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064298	Disease	p.ARG322ILE	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_043350	Disease	p.ARG118SER	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064302	Disease	p.ARG393SER	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_057995	Disease	p.ARG946SER	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064229	Disease	p.ARG27THR	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_064233	Disease	p.ARG101TRP	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029689	Disease	p.ASN1011ILE	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC)
Swiss-Prot	VAR_029688	Disease	p.ASN985ILE	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064259	Disease	p.ASN1367LYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064312	Disease	p.ASN1414TYR	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064237	Disease	p.ASN191TYR	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064238	Disease	p.ASP194ASN	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_043353	Disease	p.ASP366GLU	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_057998	Disease	p.ASP1742GLY	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_064346	Disease	p.ASP79HIS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064320	Disease	p.ASP1608TYR	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_058000	Disease	p.ASP1866TYR	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_014267	Disease	p.ASP188VAL	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_064319	Disease	p.CYS1588ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064327	Disease	p.CYS1716ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029684	Disease	p.CYS959ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064260	Disease	p.CYS1396GLY	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064273	Disease	p.CYS1756GLY	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029702	Disease	p.GLN1450ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_057996	Disease	p.GLN1489HIS	Migraine, familial hemiplegic, 3 (FHM3)
Swiss-Prot	VAR_064263	Disease	p.GLN1450LYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_025281	Disease	p.GLN1489LYS	Migraine, familial hemiplegic, 3 (FHM3)
Swiss-Prot	VAR_043361	Disease	p.GLU1238ASP	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064257	Disease	p.GLU1308ASP	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029728	Disease	p.GLU1881ASP	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029660	Disease	p.GLU78ASP	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029731	Polymorphism	p.GLU1957GLY	N/A
Swiss-Prot	VAR_064330	Disease	p.GLU1787LYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064276	Disease	p.GLU1795LYS	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_064305	Disease	p.GLU846LYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064253	Disease	p.GLU954LYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029693	Disease	p.GLY1233ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064262	Disease	p.GLY1433ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029712	Disease	p.GLY1674ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029686	Disease	p.GLY979ARG	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC)
Swiss-Prot	VAR_029671	Disease	p.GLY343ASP	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064261	Disease	p.GLY1433GLU	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064266	Disease	p.GLY1586GLU	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029718	Disease	p.GLY1749GLU	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064328	Disease	p.GLY1762GLU	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029664	Disease	p.GLY177GLU	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064251	Disease	p.GLY950GLU	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064316	Disease	p.GLY1470TRP	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029668	Disease	p.GLY265TRP	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_043366	Polymorphism	p.GLY1480VAL	N/A
Swiss-Prot	VAR_029680	Disease	p.HIS939GLN	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064248	Disease	p.HIS939TYR	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064234	Disease	p.ILE124ASN	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029667	Disease	p.ILE252ASN	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064235	Disease	p.ILE171LYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_014273	Disease	p.ILE1656MET	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_064274	Disease	p.ILE1782MET	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029666	Disease	p.ILE227SER	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029690	Polymorphism	p.ILE1034THR	N/A
Swiss-Prot	VAR_064351	Disease	p.ILE1922THR	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029730	Polymorphism	p.ILE1955THR	N/A
Swiss-Prot	VAR_064232	Disease	p.ILE91THR	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064265	Disease	p.ILE1545VAL	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064314	Disease	p.LEU1426ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064322	Disease	p.LEU1649GLN	Migraine, familial hemiplegic, 3 (FHM3)
Swiss-Prot	VAR_029703	Disease	p.LEU1461ILE	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064258	Disease	p.LEU1309PHE	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_014268	Disease	p.LEU986PHE	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_043360	Disease	p.LEU1207PRO	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029695	Disease	p.LEU1265PRO	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064256	Disease	p.LEU1287PRO	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029697	Disease	p.LEU1355PRO	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064245	Disease	p.LEU783PRO	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064307	Disease	p.LEU942PRO	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064317	Disease	p.LEU1475SER	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064264	Disease	p.LEU1514SER	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_014271	Disease	p.LYS1270THR	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_064326	Disease	p.MET1714ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029679	Disease	p.MET934ILE	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064271	Disease	p.MET1664LYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_025366	Disease	p.MET145THR	Febrile seizures, familial, 3A (FEB3A)
Swiss-Prot	VAR_029720	Disease	p.MET1780THR	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029727	Disease	p.MET1852THR	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_029685	Disease	p.MET960VAL	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_043359	Polymorphism	p.MET973VAL	N/A
Swiss-Prot	VAR_029677	Disease	p.PHE902CYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029691	Polymorphism	p.PHE1038LEU	N/A
Swiss-Prot	VAR_029694	Disease	p.PHE1263LEU	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_057997	Disease	p.PHE1499LEU	Migraine, familial hemiplegic, 3 (FHM3)
Swiss-Prot	VAR_029723	Disease	p.PHE1808LEU	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC)
Swiss-Prot	VAR_064301	Disease	p.PHE383LEU	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064303	Disease	p.PHE403LEU	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064230	Disease	p.PHE63LEU	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064250	Disease	p.PHE945LEU	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029704	Disease	p.PHE1463SER	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_043367	Polymorphism	p.PHE1543SER	N/A
Swiss-Prot	VAR_029710	Disease	p.PHE1661SER	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064324	Disease	p.PHE1687SER	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_029716	Disease	p.PHE1692SER	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029726	Disease	p.PHE1831SER	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064231	Disease	p.PHE90SER	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064349	Disease	p.PHE1707VAL	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029711	Disease	p.PRO1668ALA	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064315	Disease	p.PRO1451LEU	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029707	Disease	p.PRO1632SER	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC)
Swiss-Prot	VAR_064300	Disease	p.PRO358THR	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029692	Disease	p.SER1231ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064240	Disease	p.SER259ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064325	Disease	p.SER1713ASN	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029662	Disease	p.SER103GLY	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_043358	Polymorphism	p.SER626GLY	N/A
Swiss-Prot	VAR_064329	Disease	p.SER1773PHE	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064295	Disease	p.SER74PRO	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_064310	Disease	p.SER1231THR	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064323	Disease	p.THR1658ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064350	Disease	p.THR1721ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064347	Disease	p.THR199ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064304	Disease	p.THR812ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029663	Disease	p.THR112ILE	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029717	Disease	p.THR1709ILE	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC)
Swiss-Prot	VAR_029729	Disease	p.THR1909ILE	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029670	Disease	p.THR297ILE	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064254	Disease	p.THR1210LYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064297	Disease	p.THR217LYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064247	Disease	p.THR875LYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064270	Disease	p.THR1658MET	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_043351	Disease	p.THR226MET	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_010110	Disease	p.THR875MET	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_064255	Disease	p.THR1260PRO	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064296	Disease	p.THR162PRO	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064309	Disease	p.THR1174SER	Migraine, familial hemiplegic, 3 (FHM3)
Swiss-Prot	VAR_029676	Disease	p.THR808SER	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC)
Swiss-Prot	VAR_014270	Disease	p.TRP1204ARG	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_029701	Disease	p.TRP1434ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064272	Disease	p.TRP1726ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029665	Disease	p.TRP190ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029669	Disease	p.TRP280ARG	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029724	Disease	p.TRP1812GLY	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064252	Disease	p.TRP952GLY	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064308	Disease	p.TRP957LEU	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_043363	Disease	p.TRP1358SER	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064243	Disease	p.TYR413ASN	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029673	Disease	p.TYR426ASN	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064313	Disease	p.TYR1422CYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_043365	Disease	p.TYR1462CYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029713	Disease	p.TYR1694CYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029721	Disease	p.TYR1781CYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029675	Disease	p.TYR790CYS	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_043349	Disease	p.TYR84CYS	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064241	Disease	p.TYR388HIS	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_029700	Disease	p.VAL1428ALA	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_029681	Disease	p.VAL944ALA	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029687	Disease	p.VAL983ALA	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC)
Swiss-Prot	VAR_064268	Polymorphism	p.VAL1637GLU	N/A
Swiss-Prot	VAR_043357	Polymorphism	p.VAL422GLU	N/A
Swiss-Prot	VAR_064249	Disease	p.VAL944GLU	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_043364	Disease	p.VAL1366ILE	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC)
Swiss-Prot	VAR_064267	Disease	p.VAL1612ILE	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_014272	Disease	p.VAL1353LEU	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_057999	Disease	p.VAL1857LEU	Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
Swiss-Prot	VAR_043362	Disease	p.VAL1335MET	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029699	Disease	p.VAL1390MET	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_064321	Disease	p.VAL1630MET	Severe myoclonic epilepsy in infancy (SMEI)
Swiss-Prot	VAR_029706	Disease	p.VAL1611PHE	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC)
Swiss-Prot	VAR_064242	Disease	p.VAL406PHE	Severe myoclonic epilepsy in infancy (SMEI)
OMIM	182389.0023	Disease	p.ALA1669GLU	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6
OMIM	182389.0024	Disease	p.ARG862GLY	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6
OMIM	182389.0001	Disease	p.ARG1648HIS	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.GLN1489HIS	MIGRAINE, FAMILIAL HEMIPLEGIC, 3
OMIM	182389.0012	Disease	p.GLN1489LYS	MIGRAINE, FAMILIAL HEMIPLEGIC, 3
OMIM	182389.0005	Disease	p.ILE1656MET	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
OMIM	182389.0009	Disease	p.LEU986PHE	DRAVET SYNDROME
OMIM	182389.0010	Disease	p.LYS1270THR	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
OMIM	182389.0015	Disease	p.MET145THR	FEBRILE SEIZURES, FAMILIAL, 3A
OMIM	182389.0021	Disease	p.PHE1499LEU	MIGRAINE, FAMILIAL HEMIPLEGIC, 3
OMIM	182389.0013	Disease	p.THR1709ILE	DRAVET SYNDROME\|\|GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, INCLUDED
OMIM	182389.0002	Disease	p.THR875MET	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
OMIM	182389.0006	Disease	p.TRP1204ARG	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
OMIM	182389.0011	Disease	p.VAL1428ALA	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
OMIM	182389.0004	Disease	p.VAL1353LEU	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
OMIM	182389.0014	Disease	p.VAL1611PHE	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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