dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF) - 1794 nt intron 05 reference sequence

Contains alternatively spliced exon 05b

(intronic numbering for coding DNA Reference Sequence)


         .         .         .         .         .         .  g.63359
gtgggtagcccacgttggcctggctgggccccagcaagaaggccggcagtggcacttgag  c.457+60

         .         .         .         .         .         .  g.63419
cctgggggctgggagctgcagcgaggcttcccagcctttgctgccctccccaggttggag  c.457+120

         .         .         .         .         .         .  g.63479
gctgcccaggcctggaaagaagagggtgcagtgggtgggaagtcctgagggctgccttct  c.457+180

         .         .         .         .         .         .  g.63539
gctgtgcagaaagaaggggcagcaggcacgttcccttgggcggtgcagggagtaatgtga  c.457+240

         .         .         .         .         .         .  g.63599
gggtgcctccaagccccagctgcctggggacggggctgagcccaggctgggtgttctgag  c.457+300

         .         .         .         .         .         .  g.63659
ctgtgcagttccaagaagggtgtgtggggatggggtctgacccaggtgatacctgaggcc  c.457+360

         .         .         .         .         .         .  g.63719
ccacaaactccccagaaccgaatgtttccctacctcagcacccagcaggcctttggtgat  c.457+420

         .         .         .         .         .         .  g.63779
ggtgtgtgacaaaagaactagttttttttcttgaaagagccctgaactgaacttcagggt  c.457+480

         .         .         .         .         .         .  g.63839
tccagtcctgcctttgacactgagtctctgtgtgactttgggctgattactttccctctc  c.457+540

         .         .         .         .         .         .  g.63899
tgggcccatagattatttgtgaagggagcagactaagttagctaagtgctgtgcctgtct  c.457+600

         .         .         .         .         .         .  g.63959
cagctctcttcacttggttctgccaggctggtcaagcgaggacccagcccggggtggctg  c.457+660

         .         .         .         .         .         .  g.64019
gctctccactggtgggcctgggtgtgggagcctccatgtggtccagcctgctggggttgg  c.457+720

         .         .         .         .         .         .  g.64079
gaggaagctacatagacgggctagtgggcacttgcccatgggaaagattctagagttttt  c.457+780

         .         .         .         .         .         .  g.64139
ctcttagtgaagggagctagaagcaagcacagcattaaaaccggagcagcccatgtctca  c.457+840

         .         .         .         .         .         g.64196
attgagtgtgccctgtgcctgacctggggccagcccagcacagggctctgtggtgag  c.457+897

--------------------- middle of intron ---------------------
          .         .         .         .         .           g.64253
   gtcggcagagcagagctgtcttgttggggctcagcactgtccgagcttagagatggg  c.458-841

.         .         .         .         .         .           g.64313
agatcagtctggactggagtaacctggtaatcctgagctgtgtggctggagtgggctcag  c.458-781

.         .         .         .         .         .           g.64373
gggaggaaggagaggtgcccgtggtggcagagggtggggagcagggagggtccgaatact  c.458-721

.         .         .         .         .         .           g.64433
ctgggactgtgttgaggtggatctgacagagttaggtgcaggccaatcagtggaggcttc  c.458-661

.         .         .         .         .         .           g.64493
cagacacgcctgggaggtggtgagaaggaacaggtgccactgggctccacagctatttct  c.458-601

.         .         .         .         .         .           g.64553
gagctttgcaccaggctggggtgggcggggaaggcagggttggggatggaggtgcagtag  c.458-541

.         .         .         .         .         .           g.64613
gttggtttccttcaccccaacctcctccctcccctcccggggttatgccctgcccacaag  c.458-481
. | 05b . . . . . g.64673 acag | gcgggggacagagccgggccgagacttggtccctgctcagtgacagcaccatggac c.458-421 G | G G Q S R A E T W S L L S D S T M D p.153+18 ^ alternatively spliced exon 05b . . . . | . . g.64733 acgagatactctggaaagaagtggccggcccccacgg | gtgagacacgggccaggactgtc c.458-361 T R Y S G K K W P A P T D | p.153+31 . . . . . . g.64793 ctgatcccagaccctccctgtaactgtctcactagctgccatggtcagcttgctggagcg c.458-301 . . . . . . g.64853 gggccaggtggcagaggactcctcctgcaggacttggcgggtgggagggctagggccatt c.458-241 . . . . . . g.64913 ctgttttcttcctgttgactaactggactgactgccctcaagtttcagctgctggaagct c.458-181 . . . . . . g.64973 cctcttctttctaccttatccatcctggctcactgatggggagggaggagggagaggaag c.458-121 . . . . . . g.65033 aggggatgagtcttagggcccatgccttttggatcttctgccccctgggctgggtcccag c.458-61 . . . . . . g.65093 gggcaggggcaggggcagggccagagggatccaggcctcattagggccctctcctcttag c.458-1

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