Leiden Muscular Dystrophy pages©

DMD-gene exon 45

(used for mutation description)


(last modified July 16, 2001)

consensus sequence derived from A.....


intron 44

   .         .         .         .         .
   aatatagcaattaattttatttaaatatctctagagtttttttttaatac    -451
   .         .         .         .         .
   tgtgactaacctatgtttgttctttttcacctctcgtatccacgatcact    -401
   .         .         .         .         .
   aagaaacccaaatactttgttcatgtttaaattttacaacatttcataga    -351
   .         .         .         .         .
   ctattaaacatggaacatccttgtggggacaagaaatcgaatttgctctt    -301
   .         .         .         .         .
   gaaaaggtttccaactaattgatttgtaggacattataacatcctctagc    -251
   .         .         .         .         .
   tgacaagcttacaaaaataaaaactggagctaaccgagagggtgcttttt    -201
   .         .         .         .         .
   tccctgacacataaaaggtgtctttctgtcttgtatcctttggatatggg    -151
   .         .         .         .         .
   catgtcagtttcatagggaaattttcacatggagcttttgtatttctttc    -101
   .         .         .         .         .
   tttgccagtacaactgcatgtggtagcacactgtttaatcttttctcaaa    -51
   .         .         .         .         .
   taaaaagacatggggcttcatttttgttttgcctttttggtatcttacag    -1

exon 45

      6647  .         .         .         .         .
         GAACTCCAGGATGGCATTGGGCAGCGGCAAACTGTTGTCAGAAC    6690
         E  L  Q  D  G  I  G  Q  R  Q  T  V  V  R  T     2161
      2147
            .         .         .         .         .
   ATTGAATGCAACTGGGGAAGAAATAATTCAGCAATCCTCAAAAACAGATG    6740
    L  N  A  T  G  E  E  I  I  Q  Q  S  S  K  T  D  A    2178

            .         .         .         .         .
   CCAGTATTCTACAGGAAAAATTGGGAAGCCTGAATCTGCGGTGGCAGGAG    6790
     S  I  L  Q  E  K  L  G  S  L  N  L  R  W  Q  E      2194

            .         .         .  
   GTCTGCAAACAGCTGTCAGACAGAAAAAAGAG                      6822
   V  C  K  Q  L  S  D  R  K  K  R                       2205

intron 45

  +1        .         .         .         .         .
   gtagggcgacagatctaataggaatgaaaacattttagcagactttttaa     +50
            .         .         .         .         .
   gctttctttagaagaatatttcatgagagattataagcagggtgaaaggc    +100
            .         .         .         .         .
   actaacattaaagaacctatcaaccattaatcaacagcagtaaagaaatt    +150
            .         .         .         .         .
   ttttatttctttttttcatatactaaaatatatacttgtggctagttagt    +200
            .         .         .         .         .
   ggttttctgctattttaaacttgaagtttgctttaaaaatcacccatgat    +250
            .         .         .         .         .
   tgcttaaaggtgaatatcttcaatatattttaacttcaacaagctgaatc    +300
            .         .         .         .         .
   tcagttgtttttcaagaagattttagaaagcaattataaatgattgtttt    +350
            .         .         .         .         .
   gtaggaaagacagatctttgcttagttttaaaaatagctatgaatatgac    +400
            .         .         .         .         .
   tatgaagctaaaaaaagtgatagtgtcacttacctctagtttcaccacat    +450
            .         .         .         .         .
   ttgtgaatacattcttgaaggggaacttgagccaaagaggtacaagttta    +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.