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DMD-gene exon 13

(used for mutation description)

(last modified July 11, 2001)

consensus sequence derived from AC004468, with 1691-110 an A in stead of a G

intron 12

   .         .         .         .         .
   ggttagtgggcaaagtgaatagtaggataaatatgtaggcacagtaacta    -451
   .         .         .         .         .
   taggatacatttgtttttttttttttcagtgaagaggaacacataatagg    -401
   .         .         .         .         .
   acagtaggaggaccggtttgttggatcaagagtttgttttatttttatgg    -351
   .         .         .         .         .
   taatggagaagttcagtagagaagaagagcctgaaaatgccagaagtgct    -301
   .         .         .         .         .
   gatagttgtaggaaaaaagtccttgaaagggagaaagggggtgggatgag    -251
   .         .         .         .         .
   aaggagaacatcctgctgtacctttcttaacatttgtcttctctagatac    -201
   .         .         .         .         .
   tttccagttaaattaacaatagaacatataaattttgctgagcgtcatag    -151
   .         .         .         .         .
   cagaaaattggcttggaatggttttaggttaataaaaaataggagtacct    -101
   .         .         .         .         .
   gagatgtagcagaaataaatttcaccatttgagagcaaatcatttcaaca    -51
   .         .         .         .         .
   cacatgtaagaatatcattttaatttcctttaaaacattttatctttcag    -1

exon 13

1691        .         .         .         .         .
   GTGCTTCAAGAAGATCTAGAACAAGAACAAGTCAGGGTCAATTCTCTCAC   1740
   V  L  Q  E  D  L  E  Q  E  Q  V  R  V  N  S  L  T     511
 495
            .         .         .         .         .
   TCACATGGTGGTGGTAGTTGATGAATCTAGTGGAGATCACGCAACTGCTG   1790
    H  M  V  V  V  V  D  E  S  S  G  D  H  A  T  A  A    528

   CTTTGGAAGAACAACTTAAG                                 1810
     L  E  E  Q  L  K                                    534

intron 13

  +1        .         .         .         .         .
   gtcagattattttgcttagtaaactaaatatgtcctttaaaagaactata     +50
            .         .         .         .         .
   acttgaaaagtattttaaaaatttagaatgcaatttatatattaaaatac    +100
            .         .         .         .         .
   ttagaatacaatatgtgtacaatatacacacactcataatcagctgaagt    +150
            .         .         .         .         .
   tgctgtgatttaaagaattccataattctgatacaatagtaactaactgc    +200
            .         .         .         .         .
   ggatgggtaaaatctaatactttaccagaaaatttcaattaatattaaat    +250
            .         .         .         .         .
   aaggctgggaagcaggggttgaagggaggttactggttaaaaaaaattta    +300
            .         .         .         .         .
   aatgcagacatttttctaaggcatggagtatttccatttaaaataacaat    +350
            .         .         .         .         .
   tgaaagcacccatttcatcattagctgacccagtgtgaatagcttttcaa    +400
            .         .         .         .         .
   tataattcatccaaggtgatgcttgtgtggttaaggcatcttgaaaaaca    +450
            .         .         .         .         .
   gtccgtagaactcacagatggttgtatggtgggcctatactcttctgtat    +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.