(used for mutation description)
(last modified July 10, 2001)
consensus sequence derived from AC004468
intron 13
. . . . . aaaatctacatagtaatagaatttaagttactaagaattttcttctacaa -451 . . . . . tccaaatggtaggcaattctcattatgcaagattgtttcaattaagagtc -401 . . . . . ttttgaggcattctatttagtagttagacttttattctttagggtgtatt -351 . . . . . ttcaaacctaaggaaaatacaccttttacttgttctcactgcaaaatcct -301 . . . . . ctctatatgtatgtctttgttatcttacatttgctatggagccattttat -251 . . . . . atagtggtataataaccacttcatattgcttgtctctttgcttttctatg -201 . . . . . aaaggtacaagacttggtgagataaagacaaatgacagtcacaccactta -151 . . . . . tttaaatgtaagcagatcagaaagagtgtcccttccaacttctagcgtac -101 . . . . . ataggagactgagatactttggcaaattattcatgccatttttaataaaa -51 . . . . . cgtagttaccaattgtttgctgatgctgtgcttgattgtctcttctccag -1
exon 14
1811 . . . . . GTATTGGGAGATCGATGGGCAAACATCTGTAGATGGACAGAAGACCGCTG 1860 V L G D R W A N I C R W T E D R W 551 535 . . . . . GGTTCTTTTACAAGACATCCTTCTCAAATGGCAACGTCTTACTGAAGAAC 1910 V L L Q D I L L K W Q R L T E E Q 568 1912 | AG | 1913
intron 14
+1 . . . . . gtgtgtcatgtgtgagaaactagctgtaaaagacacggggggatattaaattg +53 -54 . . . . . gaaaagtaaagatttatgtttatttattccttggaattctttaatgtcttgcag -1
exon 15
1913 . . . . . TGCCTTTTTAGTGCATGGCTTTCAGAAAAAGAAGATGCAGTGAACAAGAT 1960 C L F S A W L S E K E D A V N K I 585 569 . . . . . TCACACAACTGGCTTTAAAGATCAAAATGAAATGTTATCAAGTCTTCAAA 2010 H T T G F K D Q N E M L S S L Q K 602 2020 AACTGGCC | 2020 L A 604
intron 15
+1 . . . . . gtatgtactttctagctttcaatggtcttataaaaacccagtactgtata +50 . . . . . ttatcactattatttagtctcttctatgctattgaatattaaatgtttat +100 . . . . . ttttgcttggatcatagattattcaaagatgttatattgctacttttctg +150 . . . . . aattaaagtgggaaaaaactataggtggattttcaactttgtttttcaaa +200 . . . . . gttgtactcttgataaaacatagcataccagaataagacttcaattaaaa +250 . . . . . ttaataaagtaatactaagaaatgtctgtgagcctttcataaagttctaa +300 . . . . . gcagcatagttctaaaaaaatagactgacgttgattctcagaataatatg +350 . . . . . tgagagttacaagcgacggttatcctgacattgatggagtttaaccttag +400 . . . . . tttattataaaggggtacctgagactgggactgggtaacttatgaaataa +450 . . . . . agaggtttaactggctcatggttctgcaggctgtacaagaagcatgacac +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.