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DMD-gene exon 43

(used for mutation description)

(last modified July 16, 2001)

consensus sequence derived from AL139278

intron 42

   .         .         .         .         .
   ttgaaagtctcgtgagacctccaagtgttgagaaattagcatttgttaga    -451
   .         .         .         .         .
   ctggagttcggaggagatgtccgggcttgagatacacatttgggtgtcat    -401
   .         .         .         .         .
   tgtcttatataagatatttaaaattatgagaacaaatgggatggattatg    -351
   .         .         .         .         .
   gacagagaagaaaagaagtgcaaatactgagtcagagcactctaatatta    -301
   .         .         .         .         .
   agatcaggatgagaaggatccagcaaaggaaagcagaagaggtcaggata    -251
   .         .         .         .         .
   cagaagccaaatgaaggcagttttaagatgtagggagcgatccactctct    -201
   .         .         .         .         .
   caggatgaggtctgtgatttacctattgaatttgaacatgtcaaagtcac    -151
   .         .         .         .         .
   tggacttcatggttattaactttaaaaagtcaataattaagaattgcaac    -101
   .         .         .         .         .
   accatttgctacctttgggatttgtatatatatatatatttttctctttc    -51
   .         .         .         .         .
   tatagacagctaattcatttttttactgttttaaaatttttatattacag    -1

exon 43

     6326   .         .         .         .         .
        AATATAAAAGATAGTCTACAACAAAGCTCAGGTCGGATTGACATT   1740
        N  I  K  D  S  L  Q  Q  S  S  G  R  I  D  I     2054
     2040
            .         .         .         .         .
   ATTCATAGCAAGAAGACAGCAGCATTGCAAAGTGCAACGCCTGTGGAAAG   1790
   I  H  S  K  K  T  A  A  L  Q  S  A  T  P  V  E  R    2071

            .         .         .         .         .
   GGTGAAGCTACAGGAAGCTCTCTCCCAGCTTGATTTCCAATGGGAAAAAG   1810
    V  K  L  Q  E  A  L  S  Q  L  D  F  Q  W  E  K  V   2088

            .         .        
   TTAACAAAATGTACAAGGACCGACAAGG                         6498
     N  K  M  Y  K  D  R  Q  G                          2097

intron 43

  +1        .         .         .         .         .
   gtaggtaacacatatatttttcttgatacttgcagaaatgatttgttttc     +50
            .         .         .         .         .
   agggaactgtagaatttatttcagtaccctccatggaaaaaagacaggga    +100
            .         .         .         .         .
   aaaagaagtatcactctcattgaaaaatggtaagtaaaatgagaacaaat    +150
            .         .         .         .         .
   aatgatgaacaattcagacaaatgagctgaactgtagaaattattcagta    +200
            .         .         .         .         .
   ttaaatttagcgttatgttgaagcattatatcttctaaaatttcaggtaa    +250
            .         .         .         .         .
   tcgtaaatcagattggggcattgaggtgctataaacagttgttcgatata    +300
            .         .         .         .         .
   acatatttatctttagtcaaatctgtatctacaaatttataggagtttga    +350
            .         .         .         .         .
   tacttagattaacatgtttaaaatactacctatcaataaaaaaattgatt    +400
            .         .         .         .         .
   ttcatttatttatattttggagggtgacactttacactttgcattaccct    +450
            .         .         .         .         .
   cccccacatttttttttgccatggggaatttgttaagttgatttaaaatc    +500

Legend:
DMD-gene exon Reference Sequence for the description of sequence variations (DMD-gene sequence variation database). Shown are 500 bp directly upstream from the splice acceptor site (numbered from -500 to -1), the exon sequence (numbered as in the cDNA Reference Sequence) and 500 bp directly downstream from the splice donor site. Intronic sequences are in lower case, exonic sequences in UPPER CASE lettering. Encoded amino acids are shown in the one-letter amino acid code. Known polymorphic sites (frequence > 0.01) are shown in bold-italics. Primers used for DHPLC are indicated in red.