Reviewed, UniProtKB/Swiss-Prot P35498 (SCN1A_HUMAN)

Names and origin

Protein names

Recommended name:
    Sodium channel protein type 1 subunit alpha
Alternative name(s):
    Sodium channel protein type I subunit alpha
    Voltage-gated sodium channel subunit alpha Nav1.1
    Sodium channel protein brain I subunit alpha

Gene names

Name:	SCN1A
Synonyms:	NAC1, SCN1

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	2009 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient.
Subunit structure	The sodium channel consists of a large polypeptide and 2-3 smaller ones. This sequence represents a large polypeptide.
Subcellular location	Membrane; Multi-pass membrane protein.
Domain	The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
Involvement in disease	Defects in SCN1A are the cause of generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]. Generalized epilepsy with febrile seizures-plus refers to a rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. GEFS+ is a disease combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. Ref.1 Ref.8 Ref.9 Ref.11 Ref.12 Ref.15 Ref.17 Ref.22 Ref.24 Ref.28 Ref.30 Ref.31 Defects in SCN1A are a cause of severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]; also called Dravet syndrome. SMEI is a rare disorder characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. SMEI is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus. Ref.17 Ref.31 Ref.10 Ref.13 Ref.14 Ref.16 Ref.19 Ref.20 Ref.21 Ref.23 Ref.26 Ref.29 Defects in SCN1A are a cause of intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]. ICEGTC is a disorder characterized by generalized tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the absence of myoclonic seizures. Defects in SCN1A are the cause of familial hemiplegic migraine type 3 (FHM3) [MIM:609634]. FHM3 is an autosomal dominant severe subtype of migraine with aura characterized by some degree of hemiparesis during the attacks. The episodes are associated with variable features of nausea, vomiting, photophobia, and phonophobia. Age at onset ranges from 6 to 15 years. FHM is occasionally associated with other neurologic symptoms such as cerebellar ataxia or epileptic seizures. A unique eye phenotype of elicited repetitive daily blindness has also been reported to be cosegregating with FHM in a single Swiss family. Ref.25 Ref.32 Defects in SCN1A are the cause of familial febrile convulsions type 3 (FEB3) [MIM:604403]; also known as familial febrile seizures 3. Febrile convulsions are seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. Ref.27
Sequence similarities	Belongs to the sodium channel family. Contains 1 IQ domain.

Ontologies

Keywords
Biological process	Ion transport Sodium transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Epilepsy
Domain	Repeat Transmembrane
Ligand	Sodium
Molecular function	Ionic channel Sodium channel Voltage-gated channel
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	sodium ion transport Ref.1 Non-traceable author statement. Source: UniProtKB transmembrane transport Inferred from electronic annotation. Source: InterPro
Cellular component	voltage-gated sodium channel complex Inferred from electronic annotation. Source: InterPro
Molecular function	sodium ion binding Inferred from electronic annotation. Source: UniProtKB-KW voltage-gated sodium channel activity Ref.1 Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P35498-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: P35498-2)

The sequence of this isoform differs from the canonical sequence as follows:
     671-681: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2009	2009	Sodium channel protein type 1 subunit alpha		PRO_0000048489
Regions
	Transmembrane	124 – 147	24	S1 of repeat I By similarity
	Transmembrane	156 – 175	20	S2 of repeat I By similarity
	Transmembrane	189 – 207	19	S3 of repeat I By similarity
	Transmembrane	214 – 233	20	S4 of repeat I By similarity
	Transmembrane	250 – 273	24	S5 of repeat I By similarity
	Transmembrane	400 – 425	26	S6 of repeat I By similarity
	Transmembrane	763 – 787	25	S1 of repeat II By similarity
	Transmembrane	799 – 822	24	S2 of repeat II By similarity
	Transmembrane	831 – 850	20	S3 of repeat II By similarity
	Transmembrane	857 – 876	20	S4 of repeat II By similarity
	Transmembrane	893 – 913	21	S5 of repeat II By similarity
	Transmembrane	967 – 992	26	S6 of repeat II By similarity
	Transmembrane	1214 – 1237	24	S1 of repeat III By similarity
	Transmembrane	1251 – 1276	26	S2 of repeat III By similarity
	Transmembrane	1283 – 1304	22	S3 of repeat III By similarity
	Transmembrane	1309 – 1330	22	S4 of repeat III By similarity
	Transmembrane	1350 – 1377	28	S5 of repeat III By similarity
	Transmembrane	1457 – 1483	27	S6 of repeat III By similarity
	Transmembrane	1537 – 1560	24	S1 of repeat IV By similarity
	Transmembrane	1572 – 1595	24	S2 of repeat IV By similarity
	Transmembrane	1602 – 1625	24	S3 of repeat IV By similarity
	Transmembrane	1636 – 1657	22	S4 of repeat IV By similarity
	Transmembrane	1673 – 1695	23	S5 of repeat IV By similarity
	Transmembrane	1762 – 1786	25	S6 of repeat IV By similarity
	Repeat	110 – 454	345	I
	Repeat	750 – 1022	273	II
	Repeat	1200 – 1514	315	III
	Repeat	1523 – 1821	299	IV
Amino acid modifications
	Glycosylation	211	1	N-linked (GlcNAc...) Potential
	Glycosylation	284	1	N-linked (GlcNAc...) Potential
	Glycosylation	295	1	N-linked (GlcNAc...) Potential
	Glycosylation	301	1	N-linked (GlcNAc...) Potential
	Glycosylation	306	1	N-linked (GlcNAc...) Potential
	Glycosylation	338	1	N-linked (GlcNAc...) Potential
	Glycosylation	601	1	N-linked (GlcNAc...) Potential
	Glycosylation	621	1	N-linked (GlcNAc...) Potential
	Glycosylation	681	1	N-linked (GlcNAc...) Potential
	Glycosylation	892	1	N-linked (GlcNAc...) Potential
	Glycosylation	1064	1	N-linked (GlcNAc...) Potential
	Glycosylation	1080	1	N-linked (GlcNAc...) Potential
	Glycosylation	1146	1	N-linked (GlcNAc...) Potential
	Glycosylation	1378	1	N-linked (GlcNAc...) Potential
	Glycosylation	1392	1	N-linked (GlcNAc...) Potential
	Glycosylation	1403	1	N-linked (GlcNAc...) Potential
	Glycosylation	1788	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	671 – 681	11	Missing in isoform 2.		VSP_001031
	Natural variant	78	1	E → D in SMEI. Ref.19		VAR_029660
	Natural variant	84	1	Y → C		VAR_043349
	Natural variant	101	1	R → Q in SMEI. Ref.21		VAR_029661
	Natural variant	103	1	S → G in SMEI. Ref.14		VAR_029662
	Natural variant	112	1	T → I in SMEI. Ref.14		VAR_029663
	Natural variant	118	1	R → S in SMEI. Ref.31		VAR_043350
	Natural variant	145	1	M → T in FEB3; loss of function. Ref.27		VAR_025366
	Natural variant	177	1	G → E in SMEI. Ref.19		VAR_029664
	Natural variant	188	1	D → V in GEFS+2. Ref.8		VAR_014267
	Natural variant	190	1	W → R in SMEI. Ref.21		VAR_029665
	Natural variant	226	1	T → M in a patient with cryptogenic generalized epilepsy. Ref.29		VAR_043351
	Natural variant	227	1	I → S in SMEI. Ref.19		VAR_029666
	Natural variant	239	1	A → T in SMEI. Ref.29		VAR_043352
	Natural variant	252	1	I → N in SMEI. Ref.23		VAR_029667
	Natural variant	265	1	G → W in SMEI. Ref.14		VAR_029668
	Natural variant	280	1	W → R in SMEI. Ref.19		VAR_029669
	Natural variant	297	1	T → I in SMEI. Ref.19		VAR_029670
	Natural variant	343	1	G → E in SMEI. Ref.14		VAR_029671
	Natural variant	366	1	D → E in SMEI. Ref.31		VAR_043353
	Natural variant	377	1	R → Q in GEFS+2. Ref.31		VAR_043354
	Natural variant	393	1	R → C in a patient with myoclonic astatic epilepsy. Ref.29		VAR_043355
	Natural variant	393	1	R → H in SMEI. Ref.16		VAR_029672
	Natural variant	395	1	A → P in a patient with cryptogenic generalized epilepsy. Ref.29		VAR_043356
	Natural variant	422	1	V → E in a patient with cryptogenic generalized epilepsy. Ref.29		VAR_043357
	Natural variant	426	1	Y → N in SMEI. Ref.19		VAR_029673
	Natural variant	542	1	R → Q Associated with autism. Ref.18		VAR_029674
	Natural variant	626	1	S → G in a patient with cryptogenic generalized epilepsy. Ref.29		VAR_043358
	Natural variant	790	1	Y → C in GEFS+2. Ref.15		VAR_029675
	Natural variant	808	1	T → S in SMEI. Ref.14		VAR_029676
	Natural variant	875	1	T → M in GEFS+2. Ref.1		VAR_010110
	Natural variant	902	1	F → C in SMEI. Ref.13		VAR_029677
	Natural variant	931	1	R → C in SMEI. Ref.13		VAR_029678
	Natural variant	934	1	M → I in SMEI. Ref.21		VAR_029679
	Natural variant	939	1	H → Q in SMEI. Ref.16		VAR_029680
	Natural variant	944	1	V → A in SMEI. Ref.21		VAR_029681
	Natural variant	946	1	R → C in SMEI. Ref.21		VAR_029682
	Natural variant	946	1	R → H in SMEI. Ref.21		VAR_029683
	Natural variant	946	1	R → S in SMEI; or severe idiopathic generalized epilepsy of infancy. Ref.26		VAR_057995
	Natural variant	959	1	C → R in SMEI. Ref.16		VAR_029684
	Natural variant	960	1	M → V in SMEI. Ref.14		VAR_029685
	Natural variant	973	1	M → V in a patient with cryptogenic generalized epilepsy. Ref.29		VAR_043359
	Natural variant	979	1	G → R in SMEI. Ref.14		VAR_029686
	Natural variant	983	1	V → A in SMEI. Ref.14		VAR_029687
	Natural variant	985	1	N → I in SMEI. Ref.14		VAR_029688
	Natural variant	986	1	L → F in SMEI; complete loss of function. Ref.17 Ref.10		VAR_014268
	Natural variant	1011	1	N → I in SMEI. Ref.14		VAR_029689
	Natural variant	1034	1	I → T Associated with autism. Ref.18		VAR_029690
	Natural variant	1038	1	F → L Associated with autism. Ref.18		VAR_029691
	Natural variant	1067	1	A → T: dbSNP rs2298771. Ref.13 Ref.14 Ref.18 Ref.4		VAR_014269
	Natural variant	1204	1	W → R in GEFS+2. Ref.9		VAR_014270
	Natural variant	1207	1	L → P in SMEI. Ref.31		VAR_043360
	Natural variant	1231	1	S → R in SMEI. Ref.14		VAR_029692
	Natural variant	1233	1	G → R in SMEI. Ref.19		VAR_029693
	Natural variant	1238	1	E → D in SMEI. Ref.29		VAR_043361
	Natural variant	1263	1	F → L in SMEI. Ref.14		VAR_029694
	Natural variant	1265	1	L → P in SMEI. Ref.13		VAR_029695
	Natural variant	1270	1	K → T in GEFS+2. Ref.12		VAR_014271
	Natural variant	1289	1	Missing in SMEI.		VAR_029696
	Natural variant	1326	1	A → P in SMEI. Ref.20		VAR_029698
	Natural variant	1335	1	V → M in SMEI. Ref.31		VAR_043362
	Natural variant	1353	1	V → L in GEFS+2; complete loss of function. Ref.8 Ref.17		VAR_014272
	Natural variant	1355	1	L → P in SMEI. Ref.21		VAR_029697
	Natural variant	1358	1	W → S in SMEI. Ref.31		VAR_043363
	Natural variant	1366	1	V → I in GEFS+2 and ICEGTC. Ref.30		VAR_043364
	Natural variant	1390	1	V → M in SMEI. Ref.13		VAR_029699
	Natural variant	1428	1	V → A in GEFS+2. Ref.11		VAR_029700
	Natural variant	1434	1	W → R in SMEI. Ref.13 Ref.16		VAR_029701
	Natural variant	1450	1	Q → R in SMEI. Ref.13		VAR_029702
	Natural variant	1461	1	L → I in SMEI. Ref.19		VAR_029703
	Natural variant	1462	1	Y → C in SMEI. Ref.31		VAR_043365
	Natural variant	1463	1	F → S in SMEI. Ref.19		VAR_029704
	Natural variant	1480	1	G → V in a patient with myoclonic astatic epilepsy. Ref.29		VAR_043366
	Natural variant	1489	1	Q → H in FHM3. Ref.32		VAR_057996
	Natural variant	1489	1	Q → K in FHM3. Ref.25		VAR_025281
	Natural variant	1499	1	F → L in FHM3. Ref.32		VAR_057997
	Natural variant	1543	1	F → S in a patient with cryptogenic focal epilepsy. Ref.29		VAR_043367
	Natural variant	1559	1	Missing in SMEI.		VAR_029705
	Natural variant	1596	1	R → C in a patient with cryptogenic focal epilepsy. Ref.29		VAR_043368
	Natural variant	1611	1	V → F in SMEI. Ref.14		VAR_029706
	Natural variant	1632	1	P → S in SMEI. Ref.14		VAR_029707
	Natural variant	1636	1	R → Q in a patient with Lennon-Gastaut syndrome. Ref.29		VAR_043369
	Natural variant	1648	1	R → C in SMEI. Ref.13		VAR_029708
	Natural variant	1648	1	R → H in GEFS+2. Ref.1		VAR_010111
	Natural variant	1656	1	I → M in GEFS+2; exhibits a depolarizing shift in the voltage dependence of activation. Ref.8 Ref.17		VAR_014273
	Natural variant	1657	1	R → C in GEFS+2; exhibits a depolarizing shift in the voltage dependence of activation; shows a 50% reduction in current density and accelerates recovery from slow inactivation. Ref.17		VAR_029709
	Natural variant	1657	1	R → H in a patient with cryptogenic focal epilepsy. Ref.29		VAR_043370
	Natural variant	1661	1	F → S in SMEI. Ref.16		VAR_029710
	Natural variant	1668	1	P → A in SMEI. Ref.19		VAR_029711
	Natural variant	1674	1	G → R in SMEI. Ref.13		VAR_029712
	Natural variant	1684	1	Y → C in SMEI. Ref.21		VAR_029713
	Natural variant	1685	1	A → D in SMEI. Ref.14		VAR_029714
	Natural variant	1685	1	A → V in GEFS+2; complete loss of function. Ref.11 Ref.17		VAR_029715
	Natural variant	1692	1	F → S in SMEI. Ref.21		VAR_029716
	Natural variant	1709	1	T → I in SMEI. Ref.14		VAR_029717
	Natural variant	1742	1	D → G in GEFS+2. Ref.28		VAR_057998
	Natural variant	1749	1	G → E in SMEI. Ref.16		VAR_029718
	Natural variant	1766	1	Missing in SMEI.		VAR_029719
	Natural variant	1780	1	M → T in SMEI. Ref.19		VAR_029720
	Natural variant	1781	1	Y → C in SMEI. Ref.21		VAR_029721
	Natural variant	1807 – 1810	4	Missing in SMEI.		VAR_029722
	Natural variant	1808	1	F → L in SMEI. Ref.14		VAR_029723
	Natural variant	1812 – 1815	4	WEKF → C in SMEI.		VAR_029725
	Natural variant	1812	1	W → G in SMEI. Ref.14		VAR_029724
	Natural variant	1831	1	F → S in SMEI. Ref.14		VAR_029726
	Natural variant	1852	1	M → T in GEFS+2. Ref.15		VAR_029727
	Natural variant	1857	1	V → L in GEFS+2. Ref.24		VAR_057999
	Natural variant	1866	1	D → Y in GEFS+2; causes a positive shift in the voltage dependence of sodium channel fast inactivation; causes an increase in the magnitude of the persistent current and a delay in the kinetics of inactivation. Ref.22		VAR_058000
	Natural variant	1881	1	E → D in SMEI. Ref.20		VAR_029728
	Natural variant	1909	1	T → I in SMEI. Ref.13		VAR_029729
	Natural variant	1928	1	R → G in SMEI. Ref.31		VAR_043371
	Natural variant	1955	1	I → T Associated with autism. Ref.18		VAR_029730
	Natural variant	1957	1	E → G in infantile spasms. Ref.20		VAR_029731
Experimental info
	Sequence conflict	670	1	E → G Ref.2
	Sequence conflict	746	1	L → S in AAK00217. Ref.2
	Sequence conflict	930	1	P → PQ in AAK00217. Ref.2
	Sequence conflict	1158 – 1161	4	DIGA → GHRR in AAK00217. Ref.2
	Sequence conflict	1537	1	F → L Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 8, 2000. Version 2. Checksum: 0593A6730F33C9A2	FASTA	2,009	228,972
	10 20 30 40 50 60 MEQTVLVPPG PDSFNFFTRE SLAAIERRIA EEKAKNPKPD KKDDDENGPK PNSDLEAGKN 70 80 90 100 110 120 LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVLNKGKAIF RFSATSALYI LTPFNPLRKI 130 140 150 160 170 180 AIKILVHSLF SMLIMCTILT NCVFMTMSNP PDWTKNVEYT FTGIYTFESL IKIIARGFCL 190 200 210 220 230 240 EDFTFLRDPW NWLDFTVITF AYVTEFVDLG NVSALRTFRV LRALKTISVI PGLKTIVGAL 250 260 270 280 290 300 IQSVKKLSDV MILTVFCLSV FALIGLQLFM GNLRNKCIQW PPTNASLEEH SIEKNITVNY 310 320 330 340 350 360 NGTLINETVF EFDWKSYIQD SRYHYFLEGF LDALLCGNSS DAGQCPEGYM CVKAGRNPNY 370 380 390 400 410 420 GYTSFDTFSW AFLSLFRLMT QDFWENLYQL TLRAAGKTYM IFFVLVIFLG SFYLINLILA 430 440 450 460 470 480 VVAMAYEEQN QATLEEAEQK EAEFQQMIEQ LKKQQEAAQQ AATATASEHS REPSAAGRLS 490 500 510 520 530 540 DSSSEASKLS SKSAKERRNR RKKRKQKEQS GGEEKDEDEF QKSESEDSIR RKGFRFSIEG 550 560 570 580 590 600 NRLTYEKRYS SPHQSLLSIR GSLFSPRRNS RTSLFSFRGR AKDVGSENDF ADDEHSTFED 610 620 630 640 650 660 NESRRDSLFV PRRHGERRNS NLSQTSRSSR MLAVFPANGK MHSTVDCNGV VSLVGGPSVP 670 680 690 700 710 720 TSPVGQLLPE VIIDKPATDD NGTTTETEMR KRRSSSFHVS MDFLEDPSQR QRAMSIASIL 730 740 750 760 770 780 TNTVEELEES RQKCPPCWYK FSNIFLIWDC SPYWLKVKHV VNLVVMDPFV DLAITICIVL 790 800 810 820 830 840 NTLFMAMEHY PMTDHFNNVL TVGNLVFTGI FTAEMFLKII AMDPYYYFQE GWNIFDGFIV 850 860 870 880 890 900 TLSLVELGLA NVEGLSVLRS FRLLRVFKLA KSWPTLNMLI KIIGNSVGAL GNLTLVLAII 910 920 930 940 950 960 VFIFAVVGMQ LFGKSYKDCV CKIASDCQLP RWHMNDFFHS FLIVFRVLCG EWIETMWDCM 970 980 990 1000 1010 1020 EVAGQAMCLT VFMMVMVIGN LVVLNLFLAL LLSSFSADNL AATDDDNEMN NLQIAVDRMH 1030 1040 1050 1060 1070 1080 KGVAYVKRKI YEFIQQSFIR KQKILDEIKP LDDLNNKKDS CMSNHTAEIG KDLDYLKDVN 1090 1100 1110 1120 1130 1140 GTTSGIGTGS SVEKYIIDES DYMSFINNPS LTVTVPIAVG ESDFENLNTE DFSSESDLEE 1150 1160 1170 1180 1190 1200 SKEKLNESSS SSEGSTVDIG APVEEQPVVE PEETLEPEAC FTEGCVQRFK CCQINVEEGR 1210 1220 1230 1240 1250 1260 GKQWWNLRRT CFRIVEHNWF ETFIVFMILL SSGALAFEDI YIDQRKTIKT MLEYADKVFT 1270 1280 1290 1300 1310 1320 YIFILEMLLK WVAYGYQTYF TNAWCWLDFL IVDVSLVSLT ANALGYSELG AIKSLRTLRA 1330 1340 1350 1360 1370 1380 LRPLRALSRF EGMRVVVNAL LGAIPSIMNV LLVCLIFWLI FSIMGVNLFA GKFYHCINTT 1390 1400 1410 1420 1430 1440 TGDRFDIEDV NNHTDCLKLI ERNETARWKN VKVNFDNVGF GYLSLLQVAT FKGWMDIMYA 1450 1460 1470 1480 1490 1500 AVDSRNVELQ PKYEESLYMY LYFVIFIIFG SFFTLNLFIG VIIDNFNQQK KKFGGQDIFM 1510 1520 1530 1540 1550 1560 TEEQKKYYNA MKKLGSKKPQ KPIPRPGNKF QGMVFDFVTR QVFDISIMIL ICLNMVTMMV 1570 1580 1590 1600 1610 1620 ETDDQSEYVT TILSRINLVF IVLFTGECVL KLISLRHYYF TIGWNIFDFV VVILSIVGMF 1630 1640 1650 1660 1670 1680 LAELIEKYFV SPTLFRVIRL ARIGRILRLI KGAKGIRTLL FALMMSLPAL FNIGLLLFLV 1690 1700 1710 1720 1730 1740 MFIYAIFGMS NFAYVKREVG IDDMFNFETF GNSMICLFQI TTSAGWDGLL APILNSKPPD 1750 1760 1770 1780 1790 1800 CDPNKVNPGS SVKGDCGNPS VGIFFFVSYI IISFLVVVNM YIAVILENFS VATEESAEPL 1810 1820 1830 1840 1850 1860 SEDDFEMFYE VWEKFDPDAT QFMEFEKLSQ FAAALEPPLN LPQPNKLQLI AMDLPMVSGD 1870 1880 1890 1900 1910 1920 RIHCLDILFA FTKRVLGESG EMDALRIQME ERFMASNPSK VSYQPITTTL KRKQEEVSAV 1930 1940 1950 1960 1970 1980 IIQRAYRRHL LKRTVKQASF TYNKNKIKGG ANLLIKEDMI IDRINENSIT EKTDLTMSTA 1990 2000 ACPPSYDRVT KPIVEKHEQE GKDEKAKGK
	Isoform 2. Checksum: 44B35678ED6346A8	FASTA	1,998	227,789
	10 20 30 40 50 60 MEQTVLVPPG PDSFNFFTRE SLAAIERRIA EEKAKNPKPD KKDDDENGPK PNSDLEAGKN 70 80 90 100 110 120 LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVLNKGKAIF RFSATSALYI LTPFNPLRKI 130 140 150 160 170 180 AIKILVHSLF SMLIMCTILT NCVFMTMSNP PDWTKNVEYT FTGIYTFESL IKIIARGFCL 190 200 210 220 230 240 EDFTFLRDPW NWLDFTVITF AYVTEFVDLG NVSALRTFRV LRALKTISVI PGLKTIVGAL 250 260 270 280 290 300 IQSVKKLSDV MILTVFCLSV FALIGLQLFM GNLRNKCIQW PPTNASLEEH SIEKNITVNY 310 320 330 340 350 360 NGTLINETVF EFDWKSYIQD SRYHYFLEGF LDALLCGNSS DAGQCPEGYM CVKAGRNPNY 370 380 390 400 410 420 GYTSFDTFSW AFLSLFRLMT QDFWENLYQL TLRAAGKTYM IFFVLVIFLG SFYLINLILA 430 440 450 460 470 480 VVAMAYEEQN QATLEEAEQK EAEFQQMIEQ LKKQQEAAQQ AATATASEHS REPSAAGRLS 490 500 510 520 530 540 DSSSEASKLS SKSAKERRNR RKKRKQKEQS GGEEKDEDEF QKSESEDSIR RKGFRFSIEG 550 560 570 580 590 600 NRLTYEKRYS SPHQSLLSIR GSLFSPRRNS RTSLFSFRGR AKDVGSENDF ADDEHSTFED 610 620 630 640 650 660 NESRRDSLFV PRRHGERRNS NLSQTSRSSR MLAVFPANGK MHSTVDCNGV VSLVGGPSVP 670 680 690 700 710 720 TSPVGQLLPE GTTTETEMRK RRSSSFHVSM DFLEDPSQRQ RAMSIASILT NTVEELEESR 730 740 750 760 770 780 QKCPPCWYKF SNIFLIWDCS PYWLKVKHVV NLVVMDPFVD LAITICIVLN TLFMAMEHYP 790 800 810 820 830 840 MTDHFNNVLT VGNLVFTGIF TAEMFLKIIA MDPYYYFQEG WNIFDGFIVT LSLVELGLAN 850 860 870 880 890 900 VEGLSVLRSF RLLRVFKLAK SWPTLNMLIK IIGNSVGALG NLTLVLAIIV FIFAVVGMQL 910 920 930 940 950 960 FGKSYKDCVC KIASDCQLPR WHMNDFFHSF LIVFRVLCGE WIETMWDCME VAGQAMCLTV 970 980 990 1000 1010 1020 FMMVMVIGNL VVLNLFLALL LSSFSADNLA ATDDDNEMNN LQIAVDRMHK GVAYVKRKIY 1030 1040 1050 1060 1070 1080 EFIQQSFIRK QKILDEIKPL DDLNNKKDSC MSNHTAEIGK DLDYLKDVNG TTSGIGTGSS 1090 1100 1110 1120 1130 1140 VEKYIIDESD YMSFINNPSL TVTVPIAVGE SDFENLNTED FSSESDLEES KEKLNESSSS 1150 1160 1170 1180 1190 1200 SEGSTVDIGA PVEEQPVVEP EETLEPEACF TEGCVQRFKC CQINVEEGRG KQWWNLRRTC 1210 1220 1230 1240 1250 1260 FRIVEHNWFE TFIVFMILLS SGALAFEDIY IDQRKTIKTM LEYADKVFTY IFILEMLLKW 1270 1280 1290 1300 1310 1320 VAYGYQTYFT NAWCWLDFLI VDVSLVSLTA NALGYSELGA IKSLRTLRAL RPLRALSRFE 1330 1340 1350 1360 1370 1380 GMRVVVNALL GAIPSIMNVL LVCLIFWLIF SIMGVNLFAG KFYHCINTTT GDRFDIEDVN 1390 1400 1410 1420 1430 1440 NHTDCLKLIE RNETARWKNV KVNFDNVGFG YLSLLQVATF KGWMDIMYAA VDSRNVELQP 1450 1460 1470 1480 1490 1500 KYEESLYMYL YFVIFIIFGS FFTLNLFIGV IIDNFNQQKK KFGGQDIFMT EEQKKYYNAM 1510 1520 1530 1540 1550 1560 KKLGSKKPQK PIPRPGNKFQ GMVFDFVTRQ VFDISIMILI CLNMVTMMVE TDDQSEYVTT 1570 1580 1590 1600 1610 1620 ILSRINLVFI VLFTGECVLK LISLRHYYFT IGWNIFDFVV VILSIVGMFL AELIEKYFVS 1630 1640 1650 1660 1670 1680 PTLFRVIRLA RIGRILRLIK GAKGIRTLLF ALMMSLPALF NIGLLLFLVM FIYAIFGMSN 1690 1700 1710 1720 1730 1740 FAYVKREVGI DDMFNFETFG NSMICLFQIT TSAGWDGLLA PILNSKPPDC DPNKVNPGSS 1750 1760 1770 1780 1790 1800 VKGDCGNPSV GIFFFVSYII ISFLVVVNMY IAVILENFSV ATEESAEPLS EDDFEMFYEV 1810 1820 1830 1840 1850 1860 WEKFDPDATQ FMEFEKLSQF AAALEPPLNL PQPNKLQLIA MDLPMVSGDR IHCLDILFAF 1870 1880 1890 1900 1910 1920 TKRVLGESGE MDALRIQMEE RFMASNPSKV SYQPITTTLK RKQEEVSAVI IQRAYRRHLL 1930 1940 1950 1960 1970 1980 KRTVKQASFT YNKNKIKGGA NLLIKEDMII DRINENSITE KTDLTMSTAA CPPSYDRVTK 1990 PIVEKHEQEG KDEKAKGK

References

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[1]	"Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2." Escayg A., MacDonald B.T., Meisler M.H., Baulac S., Huberfeld G., An-Gourfinkel I., Brice A., LeGuern E., Moulard B., Chaigne D., Buresi C., Malafosse A. Nat. Genet. 24:343-345(2000) [PubMed: 10742094] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GEFS+2 MET-875 AND HIS-1648.
[2]	"Cloning of cDNA for human voltage-gated sodium channel alpha subunit, SCN1A." Jeong S.-Y., Goto J., Kanazawa I. Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[3]	"Homo sapiens neuronal voltage-gated sodium channel type I (Nav1.1) mRNA." Sugawara T., Mazaki E.M., Yamakawa K. Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Brain.
[4]	"Isoforms of human sodium channel SCN1A gene." Ouchida M., Ohmori I. Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT THR-1067.
[5]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24." Malo M.S., Blanchard B.J., Andresen J.M., Srivastava K., Chen X.N., Li X., Jabs E.W., Korenberg J.R., Ingram V.M. Cytogenet. Cell Genet. 67:178-186(1994) [PubMed: 8062593] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1335-1428.
[7]	"Differential expression of two sodium channel subtypes in human brain." Lu C.-M., Han J., Rado T.A., Brown G.B. FEBS Lett. 303:53-58(1992) [PubMed: 1317301] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1518-1940. Tissue: Brain.
[8]	"Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus." Wallace R.H., Scheffer I.E., Barnett S., Richards M., Dibbens L., Desai R.R., Lerman-Sagie T., Lev D., Mazarib A., Brand N., Ben-Zeev B., Goikhman I., Singh R., Kremmidiotis G., Gardner A., Sutherland G.R., George A.L. Jr., Mulley J.C., Berkovic S.F. Am. J. Hum. Genet. 68:859-865(2001) [PubMed: 11254444] [Abstract] Cited for: VARIANTS GEFS+2 VAL-188; LEU-1353 AND MET-1656.
[9]	"A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus -- and prevalence of variants in patients with epilepsy." Escayg A., Heils A., MacDonald B.T., Haug K., Sander T., Meisler M.H. Am. J. Hum. Genet. 68:866-873(2001) [PubMed: 11254445] [Abstract] Cited for: VARIANT GEFS+2 ARG-1204.
[10]	"De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy." Claes L., Del-Favero J., Ceulemans B., Lagae L., Van Broeckhoven C., De Jonghe P. Am. J. Hum. Genet. 68:1327-1332(2001) [PubMed: 11359211] [Abstract] Cited for: VARIANT SMEI PHE-986.
[11]	"Na(v)1.1 mutations cause febrile seizures associated with afebrile partial seizures." Sugawara T., Mazaki-Miyazaki E., Ito M., Nagafuji H., Fukuma G., Mitsudome A., Wada K., Kaneko S., Hirose S., Yamakawa K. Neurology 57:703-705(2001) [PubMed: 11524484] [Abstract] Cited for: VARIANTS GEFS+2 ALA-1428 AND VAL-1685.
[12]	"Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation." Abou-Khalil B., Ge Q., Desai R., Ryther R., Bazyk A., Bailey R., Haines J.L., Sutcliffe J.S., George A.L. Jr. Neurology 57:2265-2272(2001) [PubMed: 11756608] [Abstract] Cited for: VARIANT GEFS+2 THR-1270.
[13]	"Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy." Ohmori I., Ouchida M., Ohtsuka Y., Oka E., Shimizu K. Biochem. Biophys. Res. Commun. 295:17-23(2002) [PubMed: 12083760] [Abstract] Cited for: VARIANTS SMEI CYS-902; CYS-931; PRO-1265; PHE-1289 DEL; MET-1390; ARG-1434; ARG-1450; CYS-1648 AND ARG-1674 AND ILE-1909, VARIANT THR-1067.
[14]	"Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures." Fujiwara T., Sugawara T., Mazaki-Miyazaki E., Takahashi Y., Fukushima K., Watanabe M., Hara K., Morikawa T., Yagi K., Yamakawa K., Inoue Y. Brain 126:531-546(2003) [PubMed: 12566275] [Abstract] Cited for: VARIANTS SMEI GLY-103; ILE-112; TRP-265; GLU-343; SER-808; VAL-960; ARG-979; ALA-983; ILE-985; ILE-1011; ARG-1231; LEU-1263; PHE-1611; SER-1632; ASP-1685; ILE-1709; 1807-MET--GLU-1810 DEL; LEU-1808; GLY-1812 AND SER-1831, VARIANT THR-1067.
[15]	"Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus." Annesi G., Gambardella A., Carrideo S., Incorpora G., Labate A., Pasqua A.A., Civitelli D., Polizzi A., Annesi F., Spadafora P., Tarantino P., Ciro Candiano I.C., Romeo N., De Marco E.V., Ventura P., LePiane E., Zappia M., Aguglia U., Pavone L., Quattrone A. Epilepsia 44:1257-1258(2003) [PubMed: 12919402] [Abstract] Cited for: VARIANTS GEFS+2 CYS-790 AND THR-1852.
[16]	"De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy." Claes L., Ceulemans B., Audenaert D., Smets K., Loefgren A., Del-Favero J., Ala-Mello S., Basel-Vanagaite L., Plecko B., Raskin S., Thiry P., Wolf N.I., Van Broeckhoven C., De Jonghe P. Hum. Mutat. 21:615-621(2003) [PubMed: 12754708] [Abstract] Cited for: VARIANTS SMEI HIS-393; GLN-939; ARG-959; ARG-1434; SER-1661 AND GLU-1749.
[17]	"Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A." Lossin C., Rhodes T.H., Desai R.R., Vanoye C.G., Wang D., Carniciu S., Devinsky O., George A.L. Jr. J. Neurosci. 23:11289-11295(2003) [PubMed: 14672992] [Abstract] Cited for: VARIANT GEFS+2 CYS-1657, CHARACTERIZATION OF VARIANTS GEFS+2 LEU-1353; MET-1656; CYS-1657 AND VAL-1685, CHARACTERIZATION OF VARIANT SMEI PHE-986.
[18]	"Sodium channels SCN1A, SCN2A and SCN3A in familial autism." Weiss L.A., Escayg A., Kearney J.A., Trudeau M., MacDonald B.T., Mori M., Reichert J., Buxbaum J.D., Meisler M.H. Mol. Psychiatry 8:186-194(2003) [PubMed: 12610651] [Abstract] Cited for: VARIANTS GLN-542; THR-1034; LEU-1038; THR-1067 AND THR-1955.
[19]	"Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy." Nabbout R., Gennaro E., Dalla Bernardina B., Dulac O., Madia F., Bertini E., Capovilla G., Chiron C., Cristofori G., Elia M., Fontana E., Gaggero R., Granata T., Guerrini R., Loi M., La Selva L., Lispi M.L., Matricardi A. , Romeo A., Tzolas V., Valseriati D., Veggiotti P., Vigevano F., Vallee L., Dagna Bricarelli F., Bianchi A., Zara F. Neurology 60:1961-1967(2003) [PubMed: 12821740] [Abstract] Cited for: VARIANTS SMEI ASP-78; GLU-177; SER-227; ARG-280; ILE-297; ASN-426; ARG-1233; ILE-1461; SER-1463; ALA-1668; THR-1780 AND 1812-TRP--LYS-1815 DELINS CYS.
[20]	"Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms." Wallace R.H., Hodgson B.L., Grinton B.E., Gardiner R.M., Robinson R., Rodriguez-Casero V., Sadleir L., Morgan J., Harkin L.A., Dibbens L.M., Yamamoto T., Andermann E., Mulley J.C., Berkovic S.F., Scheffer I.E. Neurology 61:765-769(2003) [PubMed: 14504318] [Abstract] Cited for: VARIANTS SMEI PRO-1326 AND ASP-1881, VARIANT INFANTILE SPASMS GLY-1957.
[21]	"Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)." Fukuma G., Oguni H., Shirasaka Y., Watanabe K., Miyajima T., Yasumoto S., Ohfu M., Inoue T., Watanachai A., Kira R., Matsuo M., Muranaka H., Sofue F., Zhang B., Kaneko S., Mitsudome A., Hirose S. Epilepsia 45:140-148(2004) [PubMed: 14738421] [Abstract] Cited for: VARIANTS SMEI GLN-101; ARG-190; ILE-934; ALA-944; CYS-946; HIS-946; PRO-1355; MET-1559 DEL; CYS-1684; SER-1692; PHE-1766 DEL AND CYS-1781.
[22]	"A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction." Spampanato J., Kearney J.A., de Haan G., McEwen D.P., Escayg A., Aradi I., MacDonald B.T., Levin S.I., Soltesz I., Benna P., Montalenti E., Isom L.L., Goldin A.L., Meisler M.H. J. Neurosci. 24:10022-10034(2004) [PubMed: 15525788] [Abstract] Cited for: VARIANT GEFS+2 TYR-1866, CHARACTERIZATION OF VARIANT GEFS+2 TYR-1866.
[23]	"Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy." Ceulemans B.P.G.M., Claes L.R.F., Lagae L.G. Pediatr. Neurol. 30:236-243(2004) [PubMed: 15087100] [Abstract] Cited for: VARIANT SMEI ASN-252.
[24]	"A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures." Nagao Y., Mazaki-Miyazaki E., Okamura N., Takagi M., Igarashi T., Yamakawa K. Epilepsy Res. 63:151-156(2005) [PubMed: 15715999] [Abstract] Cited for: VARIANT GEFS+2 LEU-1857.
[25]	"Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine." Dichgans M., Freilinger T., Eckstein G., Babini E., Lorenz-Depiereux B., Biskup S., Ferrari M.D., Herzog J., van den Maagdenberg A.M.J.M., Pusch M., Strom T.M. Lancet 366:371-377(2005) [PubMed: 16054936] [Abstract] Cited for: VARIANT FHM3 LYS-1489.
[26]	"SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures." Ebach K., Joos H., Doose H., Stephani U., Kurlemann G., Fiedler B., Hahn A., Hauser E., Hundt K., Holthausen H., Mueller U., Neubauer B.A. Neuropediatrics 36:210-213(2005) [PubMed: 15944908] [Abstract] Cited for: VARIANT SMEI SER-946.
[27]	"Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures." Mantegazza M., Gambardella A., Rusconi R., Schiavon E., Annesi F., Cassulini R.R., Labate A., Carrideo S., Chifari R., Canevini M.P., Canger R., Franceschetti S., Annesi G., Wanke E., Quattrone A. Proc. Natl. Acad. Sci. U.S.A. 102:18177-18182(2005) [PubMed: 16326807] [Abstract] Cited for: VARIANT FEB3 THR-145, CHARACTERIZATION OF VARIANT FEB3 THR-145.
[28]	"A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree." Pineda-Trujillo N., Carrizosa J., Cornejo W., Arias W., Franco C., Cabrera D., Bedoya G., Ruiz-Linares A. Seizure 14:123-128(2005) [PubMed: 15694566] [Abstract] Cited for: VARIANT GEFS+2 GLY-1742.
[29]	"The spectrum of SCN1A-related infantile epileptic encephalopathies." The infantile epileptic encephalopathy referral consortium Harkin L.A., McMahon J.M., Iona X., Dibbens L., Pelekanos J.T., Zuberi S.M., Sadleir L.G., Andermann E., Gill D., Farrell K., Connolly M., Stanley T., Harbord M., Andermann F., Wang J., Batish S.D., Jones J.G., Seltzer W.K. , Gardner A., Sutherland G., Berkovic S.F., Mulley J.C., Scheffer I.E. Brain 130:843-852(2007) [PubMed: 17347258] [Abstract] Cited for: VARIANTS CYS-84; MET-226; CYS-393; PRO-395; GLU-422; GLY-626; VAL-973; VAL-1480; SER-1543; CYS-1596; GLN-1636 AND HIS-1657, VARIANTS SMEI THR-239 AND ASP-1238.
[30]	"Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation." Osaka H., Ogiwara I., Mazaki E., Okamura N., Yamashita S., Iai M., Yamada M., Kurosawa K., Iwamoto H., Yasui-Furukori N., Kaneko S., Fujiwara T., Inoue Y., Yamakawa K. Epilepsy Res. 75:46-51(2007) [PubMed: 17507202] [Abstract] Cited for: VARIANT GEFS+2/ICEGTC ILE-1366.
[31]	"Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified." Zucca C., Redaelli F., Epifanio R., Zanotta N., Romeo A., Lodi M., Veggiotti P., Airoldi G., Panzeri C., Romaniello R., De Polo G., Bonanni P., Cardinali S., Baschirotto C., Martorell L., Borgatti R., Bresolin N., Bassi M.T. Arch. Neurol. 65:489-494(2008) [PubMed: 18413471] [Abstract] Cited for: VARIANTS SMEI SER-118; GLU-366; PRO-1207; MET-1335; SER-1358; CYS-1462 AND GLY-1928, VARIANT GEFS+2 GLN-377.
[32]	"Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations." Vahedi K., Depienne C., Le Fort D., Riant F., Chaine P., Trouillard O., Gaudric A., Morris M.A., LeGuern E., Tournier-Lasserve E., Bousser M.-G. Neurology 72:1178-1183(2009) [PubMed: 19332696] [Abstract] Cited for: VARIANTS FHM3 HIS-1489 AND LEU-1499.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF225985 mRNA. Translation: AAK00217.1. AY043484 mRNA. Translation: AAK95360.1. AB093548 mRNA. Translation: BAC21101.1. AB093549 mRNA. Translation: BAC21102.1. AC010127 Genomic DNA. Translation: AAX81984.1. S71446 Genomic DNA. Translation: AAB31605.1. X65362 mRNA. Translation: CAA46439.1. M91803 mRNA. No translation available.
IPI	IPI00018934. IPI00748990.
PIR	I52964. S29184.
RefSeq	NP_001159435.1. NP_008851.3.
UniGene	Hs.22654
3D structure databases
SMR	P35498. Positions 1212-1343.
ModBase	Search...
Protein-protein interaction databases
STRING	P35498.
Protein family/group databases
TCDB	1.A.1.10.7. voltage-gated ion channel (VIC) superfamily.
PTM databases
PhosphoSite	P35498.
Proteomic databases
PRIDE	P35498.
Genome annotation databases
Ensembl	ENST00000303395; ENSP00000303540; ENSG00000144285; Homo sapiens. [Genome view]
GeneID	6323.
KEGG	hsa:6323.
Organism-specific databases
CTD	6323.
GeneCards	GC02M166553.
HGNC	HGNC:10585. SCN1A.
MIM	182389. gene. 604233. phenotype. 604403. phenotype. 607208. phenotype. 609634. phenotype.
Orphanet	33069. Dravet syndrome. 36387. Generalized epilepsy with febrile seizures-plus context. 569. Hemiplegic migraine, familial or sporadic.
PharmGKB	PA301.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG05196.
HOGENOM	HBG358468.
HOVERGEN	P35498.
InParanoid	P35498.
OMA	RFKCCQI.
Gene expression databases
ArrayExpress	P35498.
Bgee	P35498.
CleanEx	HS_SCN1A.
Genevestigator	P35498.
GermOnline	ENSG00000144285. Homo sapiens.
Family and domain databases
InterPro	IPR005821. Ion_trans. IPR000048. IQ_CaM_bd_region. IPR001696. Na_channel. IPR008051. Na_channel1. IPR010526. Na_trans_assoc. [Graphical view]
PANTHER	PTHR10037:SF29. Na_channel1. 1 hit.
Pfam	PF00520. Ion_trans. 4 hits. PF06512. Na_trans_assoc. 1 hit. [Graphical view]
PRINTS	PR00170. NACHANNEL. PR01664. NACHANNEL1.
SMART	SM00015. IQ. 1 hit. [Graphical view]
PROSITE	PS50096. IQ. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB00555. Lamotrigine. DB01202. Levetiracetam. DB01121. Phenacemide. DB00252. Phenytoin. DB00273. Topiramate. DB00909. Zonisamide.
NextBio	24538.
SOURCE	Search...

Entry information

Entry name

SCN1A_HUMAN

Accession

Primary (citable) accession number: P35498
Secondary accession number(s): Q16172 , Q585T7, Q96LA3, Q9C008

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	December 8, 2000
Last modified:	January 19, 2010
This is version 108 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.