LOCUS HSU97669 8091 bp mRNA linear HUM 17-DEC-1997 DEFINITION Homo sapiens Notch3 (NOTCH3) mRNA, complete cds. ACCESSION U97669 VERSION U97669.1 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 8091) AUTHORS Joutel,A., Corpechot,C., Ducros,A., Vahedi,K., Chabriat,H., Mouton,P., Alamowitch,S., Domenga,V., Cecillion,M., Marechal,E., Maciazek,J., Vayssiere,C., Cruaud,C., Cabanis,E.A., Ruchoux,M.M., Weissenbach,J., Bach,J.F., Bousser,M.G. and Tournier-Lasserve,E. TITLE Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia JOURNAL Nature 383 (6602), 707-710 (1996) PUBMED 8878478 REFERENCE 2 (bases 1 to 8091) AUTHORS Joutel,A., Vahedi,K., Corpechot,C., Troesch,A., Chabriat,H., Vayssiere,C., Cruaud,C., Maciazek,J., Weissenbach,J., Bousser,M.G., Bach,J.F. and Tournier-Lasserve,E. TITLE Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients JOURNAL Lancet 350 (9090), 1511-1515 (1997) PUBMED 9388399 REFERENCE 3 (bases 1 to 8091) AUTHORS Joutel,A. and Tournier-Lasserve,E. TITLE Direct Submission JOURNAL Submitted (15-APR-1997) INSERM U25, Faculte de Medecine Necker-Enfants Malades, 156 rue de Vaugirard, Paris 75015, France FEATURES Location/Qualifiers source 1..8091 /db_xref="H-InvDB:HIT000222884" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="19" /map="19p13.1" gene 1..8091 /gene="NOTCH3" CDS 79..7044 /gene="NOTCH3" /codon_start=1 /product="Notch3" /protein_id="AAB91371.1" /translation="MGPGARGRRRRRRPMSPPPPPPPVRALPLLLLLAGPGAAAPPCL DGSPCANGGRCTQLPSREAACLCPPGWVGERCQLEDPCHSGPCAGRGVCQSSVVAGTA RFSCRCPRGFRGPDCSLPDPCLSSPCAHGARCSVGPDGRFLCSCPPGYQGRSCRSDVD ECRVGEPCRHGGTCLNTPGSFRCQCPAGYTGPLCENPAVPCAPSPCRNGGTCRQSGDL TYDCACLPGFEGQNCEVNVDDCPGHRCLNGGTCVDGVNTYNCQCPPEWTGQFCTEDVD ECQLQPNACHNGGTCFNTLGGHSCVCVNGWTGESCSQNIDDCATAVCFHGATCHDRVA SFYCACPMGKTGLLCHLDDACVSNPCHEDAICDTNPVNGRAICTCPPGFTGGACDQDV DECSIGANPCEHLGRCVNTQGSFLCQCGRGYTGPRCETDVNECLSGPCRNQATCLDRI GQFTCICMAGFTGTYCEVDIDECQSSPCVNGGVCKDRVNGFSCTCPSGFSGSTCQLDV DECASTPCRNGAKCVDQPDGYECRCAEGFEGTLCDRNVDDCSPDPCHHGRCVDGIASF SCACAPGYTGTRCESQVDECRSQPCRHGGKCLDLVDKYLCRCPSGTTGVNCEVNIDDC ASNPCTFGVCRDGINRYDCVCQPGFTGPLCNVEINECASSPCGEGGSCVDGENGFRCL CPPGSLPPLCLPPSHPCAHEPCSHGICYDAPGGFRCVCEPGWSGPRCSQSLARDACES QPCRAGGTCSSDGMGFHCTCPPGVQGRQCELLSPCTPNPCEHGGRCESAPGQLPVCSC PQGWQGPRCQQDVDECAGPAPCGPHGICTNLAGSFSCTCHGGYTGPSCDQDINDCDPN PCLNGGSCQDGVGSFSCSCLPGFAGPRCARDVDECLSNPCGPGTCTDHVASFTCTCPP GYGGFHCEQDLPDCSPSSCFNGGTCVDGVNSFSCLCRPGYTGAHCQHEADPCLSRPCL HGGVCSAAHPGFRCTCLESFTGPQCQTLVDWCSRQPCQNGGRCVQTGAYCLCPPGWSG RLCDIRSLPCREAAAQIGVRLEQLCQAGGQCVDEDSSHYCVCPEGRTGSHCEQEVDPC LAQPCQHGGTCRGYMGGYMCECLPGYNGDNCEDDVDECASQPCQHGGSCIDLVARYLC SCPPGTLGVLCEINEDDCGPGPPLDSGPRCLHNGTCVDLVGGFRCTCPPGYTGLRCEA DINECRSGACHAAHTRDCLQDPGGGFRCLCHAGFSGPRCQTVLSPCESQPCQHGGQCR PSPGPGGGLTFTCHCAQPFWGPRCERVARSCRELQCPVGVPCQQTPRGPRCACPPGLS GPSCRSFPGSPPGASNASCAAAPCLHGGSCRPAPLAPFFRCACAQGWTGPRCEAPAAA PEVSEEPRCPRAACQAKRGDQRCDRECNSPGCGWDGGDCSLSVGDPWRQCEALQCWRL FNNSRCDPACSSPACLYDNFDCHAGGRERTCNPVYEKYCADHFADGRCDQGCNTEECG WDGLDCASEVPALLARGVLVLTVLLPPEELLRSSADFLQRLSAILRTSLRFRLDAHGQ AMVFPYHRPSPGSEPRARRELAPEVIGSVVMLEIDNRLCLQSPENDHCFPDAQSAADY LGALSAVERLDFPYPLRDVRGEPLEPPEPSVPLLPLLVAGAVLLLVILVLGVMVARRK REHSTLWFPEGFSLHKDVASGHKGRREPVGQDALGMKNMAKGESLMGEVATDWMDTEC PEAKRLKVEEPGMGAEEAVDCRQWTQHHLVAADIRVAPAMALTPPQGDADADGMDVNV RGPDGFTPLMLASFCGGALEPMPTEEDEADDTSASIISDLICQGAQLGARTDRTGETA LHLAARYARADAAKRLLDAGADTNAQDHSGRTPLHTAVTADAQGVFQILIRNRSTDLD ARMADGSTALILAARLAVEGMVEELIASHADVNAVDELGKSALHWAAAVNNVEATLAL LKNGANKDMQDSKEETPLFLAAREGSYEAAKLLLDHFANREITDHLDRLPRDVAQERL HQDIVRLLDQPSGPRSPPGPHGLGPLLCPPGAFLPGLKAAQSGSKKSRRPPGKAGLGP QGPRGRGKKLTLACPGPLADSSVTLSPVDSLDSPRPFGGPPASPGGFPLEGPYAAATA TAVSLAQLGGPGRAGLGRQPPGGCVLSLGLLNPVAVPLDWARLPPPAPPGPSFLLPLA PGPQLLNPGTPVSPQERPPPYLAVPGHGEEYPVAGAHSSPPKARFLRVPSEHPYLTPS PESPEHWASPSPPSLSDWSESTPSPATATGAMATTTGALPAQPLPLSVPSSLAQAQTQ LGPQPEVTPKRQVLA" BASE COUNT 1311 a 2716 c 2488 g 1576 t ORIGIN 1 acgcggcgcg gaggctggcc cgggacgcgc ccggagccca gggaaggagg gaggagggga 61 gggtcgcggc cggccgccat ggggccgggg gcccgtggcc gccgccgccg ccgtcgcccg 121 atgtcgccgc caccgccacc gccacccgtg cgggcgctgc ccctgctgct gctgctagcg 181 gggccggggg ctgcagcccc cccttgcctg gacggaagcc cgtgtgcaaa tggaggtcgt 241 tgcacccagc tgccctcccg ggaggctgcc tgcctgtgcc cgcctggctg ggtgggtgag 301 cggtgtcagc tggaggaccc ctgtcactca ggcccctgtg ctggccgtgg tgtctgccag 361 agttcagtgg tggctggcac cgcccgattc tcatgccggt gcccccgtgg cttccgaggc 421 cctgactgct ccctgccaga tccctgcctc agcagccctt gtgcccacgg tgcccgctgc 481 tcagtggggc ccgatggacg cttcctctgc tcctgcccac ctggctacca gggccgcagc 541 tgccgaagcg acgtggatga gtgccgggtg ggtgagccct gccgccatgg tggcacctgc 601 ctcaacacac ctggctcctt ccgctgccag tgtccagctg gctacacagg gccactatgt 661 gagaaccccg cggtgccctg tgcgccctca ccatgccgta acgggggcac ctgcaggcag 721 agtggcgacc tcacttacga ctgtgcctgt cttcctgggt ttgagggtca gaattgtgaa 781 gtgaacgtgg acgactgtcc aggacaccga tgtctcaatg gggggacatg cgtggatggc 841 gtcaacacct ataactgcca gtgccctcct gagtggacag gccagttctg cacggaggac 901 gtggatgagt gtcagctgca gcccaacgcc tgccacaatg ggggtacctg cttcaacacg 961 ctgggtggcc acagctgcgt gtgtgtcaat ggctggacag gtgagagctg cagtcagaat 1021 atcgatgact gtgccacagc cgtgtgcttc catggggcca cctgccatga ccgcgtggct 1081 tctttctact gtgcctgccc catgggcaag actggcctcc tgtgtcacct ggatgacgcc 1141 tgtgtcagca acccctgcca cgaggatgct atctgtgaca caaatccggt gaacggccgg 1201 gccatttgca cctgtcctcc cggcttcacg ggtggggcat gtgaccagga tgtggacgag 1261 tgctctatcg gcgccaaccc ctgcgagcac ttgggcaggt gcgtgaacac gcagggctcc 1321 ttcctgtgcc agtgcggtcg tggctacact ggacctcgct gtgagaccga tgtcaacgag 1381 tgtctgtcgg ggccctgccg aaaccaggcc acgtgcctcg accgcatagg ccagttcacc 1441 tgtatctgta tggcaggctt cacaggaacc tattgcgagg tggacattga cgagtgtcag 1501 agtagcccct gtgtcaacgg tggggtctgc aaggaccgag tcaatggctt cagctgcacc 1561 tgcccctcgg gcttcagcgg ctccacgtgt cagctggacg tggacgaatg cgccagcacg 1621 ccctgcagga atggcgccaa atgcgtggac cagcccgatg gctacgagtg ccgctgtgcc 1681 gagggctttg agggcacgct gtgtgatcgc aacgtggacg actgctcccc tgacccatgc 1741 caccatggtc gctgcgtgga tggcatcgcc agcttctcat gtgcctgtgc tcctggctac 1801 acgggcacac gctgcgagag ccaggtggac gaatgccgca gccagccctg ccgccatggc 1861 ggcaaatgcc tagacctggt ggacaagtac ctctgccgct gcccttctgg gaccacaggt 1921 gtgaactgcg aagtgaacat tgacgactgt gccagcaacc cctgcacctt tggagtctgc 1981 cgtgatggca tcaaccgcta cgactgtgtc tgccaacctg gcttcacagg gcccctttgt 2041 aacgtggaga tcaatgagtg tgcttccagc ccatgcggcg agggaggttc ctgtgtggat 2101 ggggaaaatg gcttccgctg cctctgcccg cctggctcct tgcccccact ctgcctcccc 2161 ccgagccatc cctgtgccca tgagccctgc agtcacggca tctgctatga tgcacctggc 2221 gggttccgct gtgtgtgtga gcctggctgg agtggccccc gctgcagcca gagcctggcc 2281 cgagacgcct gtgagtccca gccgtgcagg gccggtggga catgcagcag cgatggaatg 2341 ggtttccact gcacctgccc gcctggtgtc cagggacgtc agtgtgaact cctctccccc 2401 tgcaccccga acccctgtga gcatgggggc cgctgcgagt ctgcccctgg ccagctgcct 2461 gtctgctcct gcccccaggg ctggcaaggc ccacgatgcc agcaggatgt ggacgagtgt 2521 gctggccccg caccctgtgg ccctcatggt atctgcacca acctggcagg gagtttcagc 2581 tgcacctgcc atggagggta cactggccct tcctgtgatc aggacatcaa tgactgtgac 2641 cccaacccat gcctgaacgg tggctcgtgc caagacggcg tgggctcctt ttcctgctcc 2701 tgcctccctg gtttcgccgg cccacgatgc gcccgcgatg tggatgagtg cctgagcaac 2761 ccctgcggcc cgggcacctg taccgaccac gtggcctcct tcacctgcac ctgcccgccg 2821 ggctacggag gcttccactg cgaacaggac ctgcccgact gcagccccag ctcctgcttc 2881 aatggcggga cctgtgtgga cggcgtgaac tcgttcagct gcctgtgccg tcccggctac 2941 acaggagccc actgccaaca tgaggcagac ccctgcctct cgcggccctg cctacacggg 3001 ggcgtctgca gcgccgccca ccctggcttc cgctgcacct gcctcgagag cttcacgggc 3061 ccgcagtgcc agacgctggt ggattggtgc agccgccagc cttgtcaaaa cgggggtcgc 3121 tgcgtccaga ctggggccta ttgcctttgt ccccctggat ggagcggacg cctctgtgac 3181 atccgaagct tgccctgcag ggaggccgca gcccagatcg gggtgcggct ggagcagctg 3241 tgtcaggcgg gtgggcagtg tgtggatgaa gacagctccc actactgcgt gtgcccagag 3301 ggccgtactg gtagccactg tgagcaggag gtggacccct gcttggccca gccctgccag 3361 catgggggga cctgccgtgg ctatatgggg ggctacatgt gtgagtgtct tcctggctac 3421 aatggtgata actgtgagga cgacgtggac gagtgtgcct cccagccctg ccagcacggg 3481 ggttcatgca ttgacctcgt ggcccgctat ctctgctcct gtcccccagg aacgctgggg 3541 gtgctctgcg agattaatga ggatgactgc ggcccaggcc caccgctgga ctcagggccc 3601 cggtgcctac acaatggcac ctgcgtggac ctggtgggtg gtttccgctg cacctgtccc 3661 ccaggataca ctggtttgcg ctgcgaggca gacatcaatg agtgtcgctc aggtgcctgc 3721 cacgcggcac acacccggga ctgcctgcag gacccaggcg gaggtttccg ttgcctttgt 3781 catgctggct tctcaggtcc tcgctgtcag actgtcctgt ctccctgcga gtcccagcca 3841 tgccagcatg gaggccagtg ccgtcctagc ccgggtcctg ggggtgggct gaccttcacc 3901 tgtcactgtg cccagccgtt ctggggtccg cgttgcgagc gggtggcgcg ctcctgccgg 3961 gagctgcagt gcccggtggg cgtcccatgc cagcagacgc cccgcgggcc gcgctgcgcc 4021 tgccccccag ggttgtcggg accctcctgc cgcagcttcc cggggtcgcc gccgggggcc 4081 agcaacgcca gctgcgcggc cgccccctgt ctccacgggg gctcctgccg ccccgcgccg 4141 ctcgcgccct tcttccgctg cgcttgcgcg cagggctgga ccgggccgcg ctgcgaggcg 4201 cccgccgcgg cacccgaggt ctcggaggag ccgcggtgcc cgcgcgccgc ctgccaggcc 4261 aagcgcgggg accagcgctg cgaccgcgag tgcaacagcc caggctgcgg ctgggacggc 4321 ggcgactgct cgctgagcgt gggcgacccc tggcggcaat gcgaggcgct gcagtgctgg 4381 cgcctcttca acaacagccg ctgcgacccc gcctgcagct cgcccgcctg cctctacgac 4441 aacttcgact gccacgccgg tggccgcgag cgcacttgca acccggtgta cgagaagtac 4501 tgcgccgacc actttgccga cggccgctgc gaccagggct gcaacacgga ggagtgcggc 4561 tgggatgggc tggattgtgc cagcgaggtg ccggccctgc tggcccgcgg cgtgctggtg 4621 ctcacagtgc tgctgccgcc ggaggagcta ctgcgttcca gcgccgactt tctgcagcgg 4681 ctcagcgcca tcctgcgcac ctcgctgcgc ttccgcctgg acgcgcacgg ccaggccatg 4741 gtcttccctt accaccggcc tagtcctggc tccgaacccc gggcccgtcg ggagctggcc 4801 cccgaggtga tcggctcggt agtaatgctg gagattgaca accggctctg cctgcagtcg 4861 cctgagaatg atcactgctt ccccgatgcc cagagcgccg ctgactacct gggagcgttg 4921 tcagcggtgg agcgcctgga cttcccgtac ccactgcggg acgtgcgggg ggagccgctg 4981 gagcctccag aacccagcgt cccgctgctg ccactgctag tggcgggcgc tgtcttgctg 5041 ctggtcattc tcgtcctggg tgtcatggtg gcccggcgca agcgcgagca cagcaccctc 5101 tggttccctg agggcttctc actgcacaag gacgtggcct ctggtcacaa gggccggcgg 5161 gaacccgtgg gccaggacgc gctgggcatg aagaacatgg ccaagggtga gagcctgatg 5221 ggggaggtgg ccacagactg gatggacaca gagtgcccag aggccaagcg gctaaaggta 5281 gaggagccag gcatgggggc tgaggaggct gtggattgcc gtcagtggac tcaacaccat 5341 ctggttgctg ctgacatccg cgtggcacca gccatggcac tgacaccacc acagggcgac 5401 gcagatgctg atggcatgga tgtcaatgtg cgtggcccag atggcttcac cccgctaatg 5461 ctggcttcct tctgtggggg ggctctggag ccaatgccaa ctgaagagga tgaggcagat 5521 gacacatcag ctagcatcat ctccgacctg atctgccagg gggctcagct tggggcacgg 5581 actgaccgta ctggcgagac tgctttgcac ctggctgccc gttatgcccg tgctgatgca 5641 gccaagcggc tgctggatgc tggggcagac accaatgccc aggaccactc aggccgcact 5701 cccctgcaca cagctgtcac agccgatgcc cagggtgtct tccagattct catccgaaac 5761 cgctctacag acttggatgc ccgcatggca gatggctcaa cggcactgat cctggcggcc 5821 cgcctggcag tagagggcat ggtggaagag ctcatcgcca gccatgctga tgtcaatgct 5881 gtggatgagc ttgggaaatc agccttacac tgggctgcgg ctgtgaacaa cgtggaagcc 5941 actttggccc tgctcaaaaa tggagccaat aaggacatgc aggatagcaa ggaggagacc 6001 cccctattcc tggccgcccg cgagggcagc tatgaggctg ccaagctgct gttggaccac 6061 tttgccaacc gtgagatcac cgaccacctg gacaggctgc cgcgggacgt agcccaggag 6121 agactgcacc aggacatcgt gcgcttgctg gatcaaccca gtgggccccg cagccccccc 6181 ggtccccacg gcctggggcc tctgctctgt cctccagggg ccttcctccc tggcctcaaa 6241 gcggcacagt cggggtccaa gaagagcagg aggccccccg ggaaggcggg gctggggccg 6301 caggggcccc gggggcgggg caagaagctg acgctggcct gcccgggccc cctggctgac 6361 agctcggtca cgctgtcgcc cgtggactcg ctggactccc cgcggccttt cggtgggccc 6421 cctgcttccc ctggtggctt cccccttgag gggccctatg cagctgccac tgccactgca 6481 gtgtctctgg cacagcttgg tggcccaggc cgggcaggtc tagggcgcca gccccctgga 6541 ggatgtgtac tcagcctggg cctgctgaac cctgtggctg tgcccctcga ttgggcccgg 6601 ctgcccccac ctgcccctcc aggcccctcg ttcctgctgc cactggcgcc gggaccccag 6661 ctgctcaacc cagggacccc cgtctccccg caggagcggc ccccgcctta cctggcagtc 6721 ccaggacatg gcgaggagta cccggtggct ggggcacaca gcagcccccc aaaggcccgc 6781 ttcctgcggg ttcccagtga gcacccttac ctgaccccat cccccgaatc ccctgagcac 6841 tgggccagcc cctcacctcc ctccctctca gactggtccg aatccacgcc tagcccagcc 6901 actgccactg gggccatggc caccaccact ggggcactgc ctgcccagcc acttcccttg 6961 tctgttccca gctcccttgc tcaggcccag acccagctgg ggccccagcc ggaagttacc 7021 cccaagaggc aagtgttggc ctgagacgct cgtcagttct tagatcttgg gggcctaaag 7081 agacccccgt cctgcctcct ttctttctct gtctcttcct tccttttagt ctttttcatc 7141 ctcttctctt tccaccaacc ctcctgcatc cttgccttgc agcgtgaccg agataggtca 7201 tcagcccagg gcttcagtct tcctttattt ataatgggtg ggggctacca cccaccctct 7261 cagtcttgtg aagagtctgg gacctccttc ttccccactt ctctcttccc tcattccttt 7321 ctctctcctt ctggcctctc atttccttac actctgacat gaatgaatta ttattatttt 7381 tctttttctt ttttttttta cattttgtat agaaacaaat tcatttaaac aaacttatta 7441 ttattatttt ttacaaaata tatatatgga gatgctccct ccccctgtga accccccagt 7501 gcccccgtgg ggctgagtct gtgggcccat tcggccaagc tggattctgt gtacctagta 7561 cacaggcatg actgggatcc cgtgtaccga gtacacgacc caggtatgta ccaagtaggc 7621 acccttgggc gcacccactg gggccagggg tcgggggagt gttgggagcc tcctccccac 7681 cccacctccc tcacttcact gcattccaga ttggacatgt tccatagcct tgctggggaa 7741 gggcccactg ccaactccct ctgccccagc cccacccttg gccatctccc tttgggaact 7801 agggggctgc tggtgggaaa tgggagccag ggcagatgta tgcattcctt tatgtccctg 7861 taaatgtggg actacaagaa gaggagctgc ctgagtggta ctttctcttc ctggtaatcc 7921 tctggcccag ccttatggca gaatagaggt atttttaggc tatttttgta atatggcttc 7981 tggtcaaaat ccctgtgtag ctgaattccc aagccctgca ttgtacagcc ccccactccc 8041 ctcaccacct aataaaggaa tagttaacac tcaaaaaaaa aaaaaaaaaa a //