LOCUS       AH009222                4765 bp    DNA     linear   HUM 10-JUN-2016
DEFINITION  Homo sapiens chromosome 19 DLL3 protein precursor (DLL3) gene,
            complete cds.
ACCESSION   AH009222 AF241367 AF241368 AF241369 AF241370 AF241371 AF241372
            AF241373
VERSION     AH009222.2
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 4765)
  AUTHORS   Bulman,M.P., Kusumi,K., Frayling,T.M., McKeown,C., Garrett,C.,
            Lander,E.S., Krumlauf,R., Hattersley,A.T., Ellard,S. and
            Turnpenny,P.D.
  TITLE     Mutations in the human delta homologue, DLL3, cause axial skeletal
            defects in spondylocostal dysostosis
  JOURNAL   Nat. Genet. 24 (4), 438-441 (2000)
   PUBMED   10742114
REFERENCE   2  (bases 1 to 4765)
  AUTHORS   Kusumi,K.
  TITLE     Direct Submission
  JOURNAL   Submitted (02-MAR-2000) Division of Developmental Neurobiology,
            National Institute for Medical Research, The Ridgeway, Mill Hill,
            London NW7 1AA, United Kingdom
COMMENT     On or before Jun 10, 2016 this sequence version replaced
            AF241367.1, AF241368.1, AF241369.1, AF241370.1, AF241371.1,
            AF241372.1, AF241373.1, AH009222.1.
FEATURES             Location/Qualifiers
     source          1..4765
                     /organism="Homo sapiens"
                     /mol_type="genomic DNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13"
     gene            <1..4422
                     /gene="DLL3"
     variation       200
                     /gene="DLL3"
                     /note="polymorphism"
                     /replace="g"
     mRNA            join(<307..382,531..812,1318..1375,1703..1945,2193..2410,
                     2725..2947,3266..3845,4132..4422)
                     /gene="DLL3"
                     /product="DLL3 protein precursor"
     exon            <307..382
                     /gene="DLL3"
                     /number=2
     5'UTR           <307..313
                     /gene="DLL3"
     CDS             join(314..382,531..812,1318..1375,1703..1945,2193..2410,
                     2725..2947,3266..3845,4132..4315)
                     /gene="DLL3"
                     /note="delta-like 3 protein precursor"
                     /codon_start=1
                     /product="DLL3 protein precursor"
                     /protein_id="AAF62542.1"
                     /translation="MVSPRMSGLLSQTVILALIFLPQTRPAGVFELQIHSFGPGPGPG
                     APRSPCSARLPCRLFFRVCLKPGLSEEAAESPCALGAALSARGPVYTEQPGAPAPDLP
                     LPDGLLQVPFRDAWPGTFSFIIETWREELGDQIGGPAWSLLARVAGRRRLAAGGPWAR
                     DIQRAGAWELRFSYRARCEPPAVGTACTRLCRPRSAPSRCGPGLRPCAPLEDECEAPL
                     VCRAGCSPEHGFCEQPGECRCLEGWTGPLCTVPVSTSSCLSPRGPSSATTGCLVPGPG
                     PCDGNPCANGGSCSETPRSFECTCPRGFYGLRCEVSGVTCADGPCFNGGLCVGGADPD
                     SAYICHCPPGFQGSNCEKRVDRCSLQPCRNGGLCLDLGHALRCRCRAGFAGPRCEHDL
                     DDCAGRACANGGTCVEGGGAHRCSCALGFGGRDCRERADPCAARPCAHGGRCYAHFSG
                     LVCACAPGYMGARCEFPVHPDGASALPAAPPGLRPGDPQRYLLPPALGLLVAAGVAGA
                     ALLLVHVRRRGHSQDAGSRLLAGTPEPSVHALPDALNNLRTQEGSGDGPSSSVDWNRP
                     EDVDPQGIYVISAPSIYAREVATPLFPPLHTGRAGQRQHLLFPYPSSILSVK"
     sig_peptide     join(314..382,531..770)
                     /gene="DLL3"
     misc_feature    1819..1938
                     /gene="DLL3"
                     /note="Region: DSL domain"
     misc_feature    join(1939..1945,2193..2293)
                     /gene="DLL3"
                     /note="Region: EGF repeat 1"
     misc_feature    2294..2371
                     /gene="DLL3"
                     /note="Region: EGF repeat 2"
     misc_feature    join(2372..2410,2725..2799)
                     /gene="DLL3"
                     /note="Region: EGF repeat 3"
     misc_feature    2800..2922
                     /gene="DLL3"
                     /note="Region: EGF repeat 4"
     misc_feature    join(2923..2947,3266..3354)
                     /gene="DLL3"
                     /note="Region: EGF repeat 5"
     misc_feature    3355..3483
                     /gene="DLL3"
                     /note="Region: EGF repeat 6"
     misc_feature    3484..3582
                     /gene="DLL3"
                     /note="Region: EGF repeat 7"
     misc_feature    3643..3735
                     /gene="DLL3"
                     /note="Region: transmembrane domain"
     exon            531..812
                     /gene="DLL3"
                     /number=3
     gap             1190..1289
                     /estimated_length=unknown
     exon            1318..1375
                     /gene="DLL3"
                     /number=4
     gap             1496..1595
                     /estimated_length=unknown
     exon            1703..1945
                     /gene="DLL3"
                     /number=5
     variation       1838
                     /gene="DLL3"
                     /note="synonymous substitution"
                     /replace="g"
     variation       1888^1889
                     /gene="DLL3"
                     /note="DLL3 593insGCGGT, S198ins5, pedigree SD1; results
                     in frameshift with 39 new amino acids then premature
                     truncation"
                     /phenotype="spondylocostal dysostosis"
                     /replace="gcggt"
     gap             2006..2105
                     /estimated_length=unknown
     exon            2193..2410
                     /gene="DLL3"
                     /number=6
     gap             2516..2615
                     /estimated_length=unknown
     exon            2725..2947
                     /gene="DLL3"
                     /number=7
     variation       2799..2800
                     /gene="DLL3"
                     /note="945delAT, T315C316del2, pedigree SD2; results in
                     frameshift with 16 novel amino acids then premature
                     truncation"
                     /phenotype="spondylocostal dysostosis"
                     /replace=""
     variation       2883
                     /gene="DLL3"
                     /note="synonymous substitution"
                     /replace="c"
     gap             3106..3205
                     /estimated_length=unknown
     exon            3266..3845
                     /gene="DLL3"
                     /number=8
     variation       3326
                     /gene="DLL3"
                     /note="missense mutation, G385D, pedigree SD3; results in
                     substitution of glycine with asparatic acid in EGF repeat
                     5"
                     /phenotype="spondylocostal dysostosis"
                     /replace="a"
     gap             3945..4044
                     /estimated_length=unknown
     exon            4132..4422
                     /gene="DLL3"
                     /note="exon 9+10; homologous to mouse Dll3 exon 9,
                     intervening intron, and exon 10"
                     /number=9
     3'UTR           4316..4422
                     /gene="DLL3"
BASE COUNT          663 a         1398 c         1214 g          890 t
ORIGIN      
        1 tggttcatac cacacacaca aaatcttaaa atcatgtaca acctcacaca caggcttagc
       61 cccctaaccc caccccaccc tagccacaca aaaagtcgcg ggatcaccca cgcatgacct
      121 cgctcgtgcc cacgaccaca gacggaatct cgctgttgct cctgcacgct ccccctcccc
      181 tgtgaccgcc ccccccgccc cgcccttggt cccttggggc cgggtagctg cctgaagggg
      241 cggggccatt ctctcagata taaggcttgg aagccagcag ctgcgactcc cgagaccccc
      301 ccaccagaag gccatggtct ccccacggat gtccgggctc ctctcccaga ctgtgatcct
      361 agcgctcatt ttcctccccc aggtcagagc caggtgggag gtggcgtgga aagggatgaa
      421 tgcggagggg aggggtgagt gcgacctgaa ggtcctgggg aaggagcgtg gggcggacgg
      481 gaagcctggg tcctcccggc cgcctcaccc tgcgcccgtc tccgtcccag acacggcccg
      541 ctggcgtctt cgagctgcag atccactctt tcgggccggg tccaggccct ggggccccgc
      601 ggtccccctg cagcgcccgg ctcccctgcc gcctcttctt cagagtctgc ctgaagcctg
      661 ggctctcaga ggaggccgcc gagtccccgt gcgccctggg cgcggcgctg agtgcgcgcg
      721 gaccggtcta caccgagcag cccggagcgc ccgcgcctga tctcccactg cccgacgggc
      781 tcttgcaggt gcccttccgg gacgcctggc ctgtaagtgc tgcccccggg ggactcccgg
      841 tgctggaggc ctaaccctgc cagcgaaacc tccacctcct ctcccctcca gcttccaaga
      901 ccctaatcct gcctcccagg gggtggacga aattcccaga ccactaactc taccgtctgg
      961 aaccccacat tcacagacct ctaaactcta cacactgggg attctaaatg ttctgattcc
     1021 ccaaccctgg atgctgggac cccaaattcc cagaatttca aacccaagct ctgaaatcct
     1081 aaactcaagg aaccctacct ctgctccttg gggatcccta aaaactgtgg tcctcatctt
     1141 tatccccaaa cctctcacac cttgtcttgg ggaccactaa tatcttctcn nnnnnnnnnn
     1201 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
     1261 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnt tcatctcccc ttccttcacc caaccagggc
     1321 accttctctt tcatcatcga aacctggaga gaggagttag gagaccagat tggaggtgag
     1381 tgtcttcagt cttgggactg gtggggagct ggggcccacg tgagacacgg ggttggtggt
     1441 gttatctata ggtcttatga tgtcatcaca gctcctggga tgtggtgctg agtgtnnnnn
     1501 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
     1561 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnntgttt ggcctcgctg ggaggggcgg
     1621 ggagaatgcg gccggggcgc tccgtatgca tccatgttcg gccgggccca ccccagcacc
     1681 cctcctttgc ctgtcctcgc agggcccgcc tggagcctgc tggcgcgcgt ggctggcagg
     1741 cggcgcttgg cagccggagg cccgtgggcc cgggacattc agcgcgcagg cgcctgggag
     1801 ctgcgcttct cgtaccgcgc gcgctgcgag ccgcctgccg tcgggaccgc gtgcacgcgc
     1861 ctctgccgtc cgcgcagcgc cccctcgcgg tgcggtccgg gactgcgccc ctgcgcaccg
     1921 ctcgaggacg aatgtgaggc gccgcgtgag tcctgcgttc gaccccaccc cgtcccagcc
     1981 ggggaccccg gcccctcctg agcgtnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
     2041 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
     2101 nnnnngctca gaaacctccc tgctttccat cttgtccctg gccctccccg acgttggtgt
     2161 tccctttctc tctgcctctc tgtcccccat agtggtgtgc cgagcaggct gcagccctga
     2221 gcatggcttc tgtgaacagc ccggtgaatg ccgatgccta gagggctgga ctggacccct
     2281 ctgcacggtc cctgtctcca ccagcagctg cctcagcccc aggggcccgt cctctgctac
     2341 caccggatgc cttgtccctg ggcctgggcc ctgtgacggg aacccgtgtg ccaatggagg
     2401 cagctgtagt gtcagtgtca cccttcccac cttgtcctgc ttagtacttt accctgggag
     2461 ccacagccct ctccctgggg ctccatgaga caccagcctg gggaggagat ctgggnnnnn
     2521 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
     2581 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnntggga cttgagactg gacaaggagc
     2641 agcccccagt ggttaggact gaggaggggg atgggatttt tctccaagga aacacccttc
     2701 tcaagtactc ttgtccctgc ccaggagaca cccaggtcct ttgaatgcac ctgcccgcgt
     2761 gggttctacg ggctgcggtg tgaggtgagc ggggtgacat gtgcagatgg accctgcttc
     2821 aacggcggct tgtgtgtcgg gggtgcagac cctgactctg cctacatctg ccactgccca
     2881 cctggtttcc aaggctccaa ctgtgagaag agggtggacc ggtgcagcct gcagccatgc
     2941 cgcaatggtg aggcctggag gcctgaacgg cgagggatgg ggtgggggtc ctggatggct
     3001 cagacagtcc agggttggaa tcctggcttt gactcttcta accctagggc ctggggacct
     3061 gaccttccac ctgcaagcct gtaaaatggg caaggagaca ttcccnnnnn nnnnnnnnnn
     3121 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
     3181 nnnnnnnnnn nnnnnnnnnn nnnnnagcgc ggcaggtggg tccccggctc ccggactgcg
     3241 ccctctgatg ctcccttccc cacaggcgga ctctgcctgg acctgggcca cgccctgcgc
     3301 tgccgctgcc gcgccggctt cgcgggtcct cgctgcgagc acgacctgga cgactgcgcg
     3361 ggccgcgcct gcgctaacgg cggcacgtgt gtggagggcg gcggcgcgca ccgctgctcc
     3421 tgcgcgctgg gcttcggcgg ccgcgactgc cgcgagcgcg cggacccgtg cgccgcgcgc
     3481 ccctgtgctc acggcggccg ctgctacgcc cacttctccg gcctcgtctg cgcttgcgct
     3541 cccggctaca tgggagcgcg gtgtgagttc ccagtgcacc ccgacggcgc aagcgccttg
     3601 cccgcggccc cgccgggcct caggcccggg gaccctcagc gctacctttt gcctccggct
     3661 ctgggactgc tcgtggccgc gggcgtggcc ggcgctgcgc tcttgctggt ccacgtgcgc
     3721 cgccgtggcc actcccagga tgctgggtct cgcttgctgg ctgggacccc ggagccgtca
     3781 gtccacgcac tcccggatgc actcaacaac ctaaggacgc aggagggttc cggggatggt
     3841 ccgaggtgag gggctgcgcc acagacgaac gccttgcgct gctggctgct tttacccatc
     3901 tccgtggtgc agttggcccg attccttgat gcatttccct ggtcnnnnnn nnnnnnnnnn
     3961 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
     4021 nnnnnnnnnn nnnnnnnnnn nnnntttggg ttcccctttg tgatgggtag gggaaaacaa
     4081 gatctgagaa tttaaagagt ctgagttttt cttctttctc tcctcccaca gctcgtccgt
     4141 agattggaat cgccctgaag atgtagaccc tcaagggatt tatgtcatat ctgctccttc
     4201 catctacgct cgggaggtag cgacgcccct tttccccccg ctacacactg ggcgcgctgg
     4261 gcagaggcag cacctgcttt ttccctaccc ttcctcgatt ctgtccgtga aatgaattgg
     4321 gtagagtctc tggaaggttt taagcccatt ttcagttcta acttactttc atcctatttt
     4381 gcatccctct tatcgttttg agctacctgc catcttctct ttgaaaaacc tatgggcttg
     4441 aggaggtcac gatgccgact ccgccagagc ttttccactg attgtactca gcggggaggc
     4501 aggggaggca gaggggcagc ctctctaatg cttcctactc attttgtttc taggcctgac
     4561 gcgtctcctc catccgcacc tggagtcaga gcgtggattt ttgtatttgc tcggtggtgc
     4621 ccagtctctg ccccagaggc tttggagttc aatcttgaag gggtgtctgg gggaacttta
     4681 ctgttgcaag ttgtaaataa tggttattta tatcctattt tttctcaccc catctctcta
     4741 gaaacaccta taaaggctat tattg
//