(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.