LOCUS AB093548 6030 bp mRNA linear HUM 16-OCT-2002
DEFINITION Homo sapiens SCN1A mRNA for voltage-gated sodium channel alpha1
subunit, complete cds.
ACCESSION AB093548
VERSION AB093548.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 6030)
AUTHORS Ouchida,M. and Ohmori,I.
TITLE Direct Submission
JOURNAL Submitted (11-OCT-2002) to the DDBJ/EMBL/GenBank databases.
Contact:Mamoru Ouchida
Okayama University, Graduate School of Medicine and Dentistry,
Department of Molecular Genetics; Shikata-cho 2-5-1, Okayama,
Okayama 700-8558, Japan
REFERENCE 2
AUTHORS Ouchida,M. and Ohmori,I.
TITLE Isoforms of human sodium channel SCN1A gene
JOURNAL Published Only in Database(2002)
COMMENT
FEATURES Location/Qualifiers
source 1..6030
/chromosome="2"
/db_xref="H-InvDB:HIT000061485"
/db_xref="taxon:9606"
/map="2q24"
/mol_type="mRNA"
/note="Codon 1067 is ACA(Thr) or GCA(Ala) as polymorphism"
/note="full length cDNA"
/organism="Homo sapiens"
CDS 1..6030
/codon_start=1
/gene="SCN1A"
/product="voltage-gated sodium channel alpha1 subunit"
/protein_id="BAC21101.1"
/transl_table=1
/translation="MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDD
DENGPKPNSDLEAGKNLPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRF
SATSALYILTPFNPLRKIAIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYT
FTGIYTFESLIKIIARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTF
RVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNK
CIQWPPTNASLEEHSIEKNITVNYNGTLINETVFEFDWKSYIQDSRYHYFLEGFLDAL
LCGNSSDAGQCPEGYMCVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTL
RAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMIEQ
LKKQQEAAQQAATATASEHSREPSAAGRLSDSSSEASKLSSKSAKERRNRRKKRKQKE
QSGGEEKDEDEFQKSESEDSIRRKGFRFSIEGNRLTYEKRYSSPHQSLLSIRGSLFSP
RRNSRTSLFSFRGRAKDVGSENDFADDEHSTFEDNESRRDSLFVPRRHGERRNSNLSQ
TSRSSRMLAVFPANGKMHSTVDCNGVVSLVGGPSVPTSPVGQLLPEVIIDKPATDDNG
TTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASILTNTVEELEESRQKCPPCWYK
FSNIFLIWDCSPYWLKVKHVVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTDHFNN
VLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVTLSLVELGLANVEGLS
VLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGK
SYKDCVCKIASDCQLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLTVF
MMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMHKGVAYVKRKI
YEFIQQSFIRKQKILDEIKPLDDLNNKKDSCMSNHTTEIGKDLDYLKDVNGTTSGIGT
GSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEESKEKLN
ESSSSSEGSTVDIGAPVEEQPVVEPEETLEPEACFTEGCVQRFKCCQINVEEGRGKQW
WNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFTYI
FILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRA
LRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCIN
TTTGDRFDIEDVNNHTDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMD
IMYAAVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFG
GQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILIC
LNMVTMMVETDDQSEYVTTILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFV
VVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLP
ALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGW
DGLLAPILNSKPPDCDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAV
ILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLP
QPNKLQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSK
VSYQPITTTLKRKQEEVSAVIIQRAYRRHLLKRTVKQASFTYNKNKIKGGANLLIKED
MIIDRINENSITEKTDLTMSTAACPPSYDRVTKPIVEKHEQEGKDEKAKGK"
BASE COUNT 1788 a 1191 c 1344 g 1707 t
ORIGIN
1 atggagcaaa cagtgcttgt accaccagga cctgacagct tcaacttctt caccagagaa
61 tctcttgcgg ctattgaaag acgcattgca gaagaaaagg caaagaatcc caaaccagac
121 aaaaaagatg acgacgaaaa tggcccaaag ccaaatagtg acttggaagc tggaaagaac
181 cttccattta tttatggaga cattcctcca gagatggtgt cagagcccct ggaggacctg
241 gacccctact atatcaataa gaaaactttt atagtattga ataaagggaa ggccatcttc
301 cggttcagtg ccacctctgc cctgtacatt ttaactccct tcaatcctct taggaaaata
361 gctattaaga ttttggtaca ttcattattc agcatgctaa ttatgtgcac tattttgaca
421 aactgtgtgt ttatgacaat gagtaaccct cctgattgga caaagaatgt agaatacacc
481 ttcacaggaa tatatacttt tgaatcactt ataaaaatta ttgcaagggg attctgttta
541 gaagatttta ctttccttcg ggatccatgg aactggctcg atttcactgt cattacattt
601 gcgtacgtca cagagtttgt ggacctgggc aatgtctcgg cattgagaac attcagagtt
661 ctccgagcat tgaagacgat ttcagtcatt ccaggcctga aaaccattgt gggagccctg
721 atccagtctg tgaagaagct ctcagatgta atgatcctga ctgtgttctg tctgagcgta
781 tttgctctaa ttgggctgca gctgttcatg ggcaacctga ggaataaatg tatacaatgg
841 cctcccacca atgcttcctt ggaggaacat agtatagaaa agaatataac tgtgaattat
901 aatggtacac ttataaatga aactgtcttt gagtttgact ggaagtcata tattcaagat
961 tcaagatatc attatttcct ggagggtttt ttagatgcac tactatgtgg aaatagctct
1021 gatgcaggcc aatgtccaga gggatatatg tgtgtgaaag ctggtagaaa tcccaattat
1081 ggctacacaa gctttgatac cttcagttgg gcttttttgt ccttgtttcg actaatgact
1141 caggacttct gggaaaatct ttatcaactg acattacgtg ctgctgggaa aacgtacatg
1201 atattttttg tattggtcat tttcttgggc tcattctacc taataaattt gatcctggct
1261 gtggtggcca tggcctacga ggaacagaat caggccacct tggaagaagc agaacagaaa
1321 gaggccgaat ttcagcagat gattgaacag cttaaaaagc aacaggaggc agctcagcag
1381 gcagcaacgg caactgcctc agaacattcc agagagccca gtgcagcagg caggctctca
1441 gacagctcat ctgaagcctc taagttgagt tccaagagtg ctaaggaaag aagaaatcgg
1501 aggaagaaaa gaaaacagaa agagcagtct ggtggggaag agaaagatga ggatgaattc
1561 caaaaatctg aatctgagga cagcatcagg aggaaaggtt ttcgcttctc cattgaaggg
1621 aaccgattga catatgaaaa gaggtactcc tccccacacc agtctttgtt gagcatccgt
1681 ggctccctat tttcaccaag gcgaaatagc agaacaagcc ttttcagctt tagagggcga
1741 gcaaaggatg tgggatctga gaacgacttc gcagatgatg agcacagcac ctttgaggat
1801 aacgagagcc gtagagattc cttgtttgtg ccccgacgac acggagagag acgcaacagc
1861 aacctgagtc agaccagtag gtcatcccgg atgctggcag tgtttccagc gaatgggaag
1921 atgcacagca ctgtggattg caatggtgtg gtttccttgg ttggtggacc ttcagttcct
1981 acatcgcctg ttggacagct tctgccagag gtgataatag ataagccagc tactgatgac
2041 aatggaacaa ccactgaaac tgaaatgaga aagagaaggt caagttcttt ccacgtttcc
2101 atggactttc tagaagatcc ttcccaaagg caacgagcaa tgagtatagc cagcattcta
2161 acaaatacag tagaagaact tgaagaatcc aggcagaaat gcccaccctg ttggtataaa
2221 ttttccaaca tattcttaat ctgggactgt tctccatatt ggttaaaagt gaaacatgtt
2281 gtcaacctgg ttgtgatgga cccatttgtt gacctggcca tcaccatctg tattgtctta
2341 aatactcttt tcatggccat ggagcactat ccaatgacgg accatttcaa taatgtgctt
2401 acagtaggaa acttggtttt cactgggatc tttacagcag aaatgtttct gaaaattatt
2461 gccatggatc cttactatta tttccaagaa ggctggaata tctttgacgg ttttattgtg
2521 acgcttagcc tggtagaact tggactcgcc aatgtggaag gattatctgt tctccgttca
2581 tttcgattgc tgcgagtttt caagttggca aaatcttggc caacgttaaa tatgctaata
2641 aagatcatcg gcaattccgt gggggctctg ggaaatttaa ccctcgtctt ggccatcatc
2701 gtcttcattt ttgccgtggt cggcatgcag ctctttggta aaagctacaa agattgtgtc
2761 tgcaagatcg ccagtgattg tcaactccca cgctggcaca tgaatgactt cttccactcc
2821 ttcctgattg tgttccgcgt gctgtgtggg gagtggatag agaccatgtg ggactgtatg
2881 gaggttgctg gtcaagccat gtgccttact gtcttcatga tggtcatggt gattggaaac
2941 ctagtggtcc tgaatctctt tctggccttg cttctgagct catttagtgc agacaacctt
3001 gcagccactg atgatgataa tgaaatgaat aatctccaaa ttgctgtgga taggatgcac
3061 aaaggagtag cttatgtgaa aagaaaaata tatgaattta ttcaacagtc cttcattagg
3121 aaacaaaaga ttttagatga aattaaacca cttgatgatc taaacaacaa gaaagacagt
3181 tgtatgtcca atcatacaac agaaattggg aaagatcttg actatcttaa agatgtaaat
3241 ggaactacaa gtggtatagg aactggcagc agtgttgaaa aatacattat tgatgaaagt
3301 gattacatgt cattcataaa caaccccagt cttactgtga ctgtaccaat tgctgtagga
3361 gaatctgact ttgaaaattt aaacacggaa gactttagta gtgaatcgga tctggaagaa
3421 agcaaagaga aactgaatga aagcagtagc tcatcagaag gtagcactgt ggacatcggc
3481 gcacctgtag aagaacagcc cgtagtggaa cctgaagaaa ctcttgaacc agaagcttgt
3541 ttcactgaag gctgtgtaca aagattcaag tgttgtcaaa tcaatgtgga agaaggcaga
3601 ggaaaacaat ggtggaacct gagaaggacg tgtttccgaa tagttgaaca taactggttt
3661 gagaccttca ttgttttcat gattctcctt agtagtggtg ctctggcatt tgaagatata
3721 tatattgatc agcgaaagac gattaagacg atgttggaat atgctgacaa ggttttcact
3781 tacattttca ttctggaaat gcttctaaaa tgggtggcat atggctatca aacatatttc
3841 accaatgcct ggtgttggct ggacttctta attgttgatg tttcattggt cagtttaaca
3901 gcaaatgcct tgggttactc agaacttgga gccatcaaat ctctcaggac actaagagct
3961 ctgagacctc taagagcctt atctcgattt gaagggatga gggtggttgt gaatgccctt
4021 ttaggagcaa ttccatccat catgaatgtg cttctggttt gtcttatatt ctggctaatt
4081 ttcagcatca tgggcgtaaa tttgtttgct ggcaaattct accactgtat taacaccaca
4141 actggtgaca ggtttgacat cgaagacgtg aataatcata ctgattgcct aaaactaata
4201 gaaagaaatg agactgctcg atggaaaaat gtgaaagtaa actttgataa tgtaggattt
4261 gggtatctct ctttgcttca agttgccaca ttcaaaggat ggatggatat aatgtatgca
4321 gcagttgatt ccagaaatgt ggaactccag cctaagtatg aagaaagtct gtacatgtat
4381 ctttactttg ttattttcat catctttggg tccttcttca ccttgaacct gtttattggt
4441 gtcatcatag ataatttcaa ccagcagaaa aagaagtttg gaggtcaaga catctttatg
4501 acagaagaac agaagaaata ctataatgca atgaaaaaat taggatcgaa aaaaccgcaa
4561 aagcctatac ctcgaccagg aaacaaattt caaggaatgg tctttgactt cgtaaccaga
4621 caagtttttg acataagcat catgattctc atctgtctta acatggtcac aatgatggtg
4681 gaaacagatg accagagtga atatgtgact accattttgt cacgcatcaa tctggtgttc
4741 attgtgctat ttactggaga gtgtgtactg aaactcatct ctctacgcca ttattatttt
4801 accattggat ggaatatttt tgattttgtg gttgtcattc tctccattgt aggtatgttt
4861 cttgccgagc tgatagaaaa gtatttcgtg tcccctaccc tgttccgagt gatccgtctt
4921 gctaggattg gccgaatcct acgtctgatc aaaggagcaa aggggatccg cacgctgctc
4981 tttgctttga tgatgtccct tcctgcgttg tttaacatcg gcctcctact cttcctagtc
5041 atgttcatct acgccatctt tgggatgtcc aactttgcct atgttaagag ggaagttggg
5101 atcgatgaca tgttcaactt tgagaccttt ggcaacagca tgatctgcct attccaaatt
5161 acaacctctg ctggctggga tggattgcta gcacccattc tcaacagtaa gccacccgac
5221 tgtgacccta ataaagttaa ccctggaagc tcagttaagg gagactgtgg gaacccatct
5281 gttggaattt tcttttttgt cagttacatc atcatatcct tcctggttgt ggtgaacatg
5341 tacatcgcgg tcatcctgga gaacttcagt gttgctactg aagaaagtgc agagcctctg
5401 agtgaggatg actttgagat gttctatgag gtttgggaga agtttgatcc cgatgcaact
5461 cagttcatgg aatttgaaaa attatctcag tttgcagctg cgcttgaacc gcctctcaat
5521 ctgccacaac caaacaaact ccagctcatt gccatggatt tgcccatggt gagtggtgac
5581 cggatccact gtcttgatat cttatttgct tttacaaagc gggttctagg agagagtgga
5641 gagatggatg ctctacgaat acagatggaa gagcgattca tggcttccaa tccttccaag
5701 gtctcctatc agccaatcac tactacttta aaacgaaaac aagaggaagt atctgctgtc
5761 attattcagc gtgcttacag acgccacctt ttaaagcgaa ctgtaaaaca agcttccttt
5821 acgtacaata aaaacaaaat caaaggtggg gctaatcttc ttataaaaga agacatgata
5881 attgacagaa taaatgaaaa ctctattaca gaaaaaactg atctgaccat gtccactgca
5941 gcttgtccac cttcctatga ccgggtgaca aagccaattg tggaaaaaca tgagcaagaa
6001 ggcaaagatg aaaaagccaa agggaaataa
//