Dysferlin (DYSF) - coding DNA reference sequence

(used for mutation description)

(last modified December 11, 2011)


This file was created to facilitate the description of sequence variants in the DYSF gene based on a coding DNA reference sequence. To strictly follow the HGVS recommendations the coding DNA reference sequence should include all exons that still give a transcript with an open reading frame. However, originally variants in the DYSF gene have been described using transcript variant 8 (NM_003494.3) as a reference. This transcript does not include alternatively spliced exons 5b and 40b that were discovered later. To allow users to trace back original reports, we have decided to show variants in the database in relation to both reference sequences, NM_003494.3 and as HGVS recommended. For the latter, NCBI does not yet contain a reference sequence so we have created one for these pages (see HGVS recommended).

Intron 1 contains an alternative promoter/first exon (exon 1b) encoding a unique 30 amino acid N-terminal sequence. Exon 17 and 49/50 are also alternatively spliced. Pramono et al (2009) measured transcript levels of all these forms largely differing in relative frequencies between skeletal muscle and blood.

NOTE: the database was updated December 11, 2011 to give descriptions in relation to both NM_003494.3 and HGVS recommended.

Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5016
                                             gcggccgccgcccagc       c.-361

 .         .         .         .         .         .                g.5076
 caggtgcaaaatgccgtgtcattgggagactccgcagccggagcattagattacagctcg       c.-301

 .         .         .         .         .         .                g.5136
 acggagctcgggaagggcggcgggggtggaagatgagcagaagcccctgttctcggaacg       c.-241

 .         .         .         .         .         .                g.5196
 ccggctgacaagcggggtgagcgcagccggggcggggacccagcctagcccactggagca       c.-181

 .         .         .         .         .         .                g.5256
 gccgggggtggcccgttcccctttaagagcaactgctctaagccaggagccagagattcg       c.-121

 .         .         .         .         .         .                g.5316
 agccggcctcgcccagccagccctctccagcgaggggacccacaagcggcgcctcggccc       c.-61

 .         .         .         .         .         .                g.5376
 tcccgacctttccgagccctctttgcgccctgggcgcacggggccctacacgcgccaagc       c.-1

          .         .         .         .         .         .       g.5436
 ATGCTGAGGGTCTTCATCCTCTATGCCGAGAACGTCCACACACCCGACACCGACATCAGC       c.60
 M  L  R  V  F  I  L  Y  A  E  N  V  H  T  P  D  T  D  I  S         p.20

          .         .         | 02         .         .         .    g.32292
 GATGCCTACTGCTCCGCGGTGTTTGCAG | GGGTGAAGAAGAGAACCAAAGTCATCAAGAAC    c.120
 D  A  Y  C  S  A  V  F  A  G |   V  K  K  R  T  K  V  I  K  N      p.40
                              ^  alternatively promoter/first exon 01b

          .         .     | 03   .         .         .         .    g.33292
 AGCGTGAACCCTGTATGGAATGAG | GGATTTGAATGGGACCTCAAGGGCATCCCCCTGGAC    c.180
 S  V  N  P  V  W  N  E   | G  F  E  W  D  L  K  G  I  P  L  D      p.60

          .         .         .         .         .       | 04 .    g.54595
 CAGGGCTCTGAGCTTCATGTGGTGGTCAAAGACCATGAGACGATGGGGAGGAACAG | GTTC    c.240
 Q  G  S  E  L  H  V  V  V  K  D  H  E  T  M  G  R  N  R  |  F      p.80

          .         .         .         .         .         .       g.54655
 CTGGGGGAAGCCAAGGTCCCACTCCGAGAGGTCCTCGCCACCCCTAGTCTGTCCGCCAGC       c.300
 L  G  E  A  K  V  P  L  R  E  V  L  A  T  P  S  L  S  A  S         p.100

          .         .         .         .   | 05     .         .    g.63202
 TTCAATGCCCCCCTGCTGGACACCAAGAAGCAGCCCACAGGG | GCCTCGCTGGTCCTGCAG    c.360
 F  N  A  P  L  L  D  T  K  K  Q  P  T  G   | A  S  L  V  L  Q      p.120

          .         .         .         .         .         .       g.63262
 GTGTCCTACACACCGCTGCCTGGAGCTGTGCCCCTGTTCCCGCCCCCTACTCCTCTGGAG       c.420
 V  S  Y  T  P  L  P  G  A  V  P  L  F  P  P  P  T  P  L  E         p.140

          .         .         .        | 06.         .         .    g.65116
 CCCTCCCCGACTCTGCCTGACCTGGATGTAGTGGCAG | ACACAGGAGGAGAGGAAGACACA    c.480
 P  S  P  T  L  P  D  L  D  V  V  A  D |   T  G  G  E  E  D  T      p.160
                                       ^  alternatively spliced exon 05b

          .         .         .         .         .         .       g.65176
 GAGGACCAGGGACTCACTGGAGATGAGGCGGAGCCATTCCTGGATCAAAGCGGAGGCCCG       c.540
 E  D  Q  G  L  T  G  D  E  A  E  P  F  L  D  Q  S  G  G  P         p.180

          .         .         .         .         .         .       g.65236
 GGGGCTCCCACCACCCCAAGGAAACTACCTTCACGTCCTCCGCCCCACTACCCCGGGATC       c.600
 G  A  P  T  T  P  R  K  L  P  S  R  P  P  P  H  Y  P  G  I         p.200

          .         .         .         .         .         .       g.65296
 AAAAGAAAGCGAAGTGCGCCTACATCTAGAAAGCTGCTGTCAGACAAACCGCAGGATTTC       c.660
 K  R  K  R  S  A  P  T  S  R  K  L  L  S  D  K  P  Q  D  F         p.220

     | 07    .         .         .         .         .         .    g.67057
 CAG | ATCAGGGTCCAGGTGATCGAGGGGCGCCAGCTGCCGGGGGTGAACATCAAGCCTGTG    c.720
 Q   | I  R  V  Q  V  I  E  G  R  Q  L  P  G  V  N  I  K  P  V      p.240

          .         .         .         .         .         .       g.67117
 GTCAAGGTTACCGCTGCAGGGCAGACCAAGCGGACGCGGATCCACAAGGGAAACAGCCCA       c.780
 V  K  V  T  A  A  G  Q  T  K  R  T  R  I  H  K  G  N  S  P         p.260

          .   | 08     .         .         .         .         .    g.67605
 CTCTTCAATGAG | ACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAG    c.840
 L  F  N  E   | T  L  F  F  N  L  F  D  S  P  G  E  L  F  D  E      p.280

          .      | 09  .         .         .         .         .    g.68411
 CCCATCTTTATCACG | GTGGTAGACTCTCGTTCTCTCAGGACAGATGCTCTCCTCGGGGAG    c.900
 P  I  F  I  T   | V  V  D  S  R  S  L  R  T  D  A  L  L  G  E      p.300

        | 10 .         .         .        | 11.         .         . g.72189
 TTCCGG | ATGGACGTGGGCACCATTTACAGAGAGCCCC | GGCACGCCTATCTCAGGAAGTGG c.960
 F  R   | M  D  V  G  T  I  Y  R  E  P  R |   H  A  Y  L  R  K  W   p.320

          .         .         .         .         .         .       g.72249
 CTGCTGCTCTCAGACCCTGATGACTTCTCTGCTGGGGCCAGAGGCTACCTGAAAACAAGC       c.1020
 L  L  L  S  D  P  D  D  F  S  A  G  A  R  G  Y  L  K  T  S         p.340

          .         .         .    | 12    .         .         .    g.77624
 CTTTGTGTGCTGGGGCCTGGGGACGAAGCGCCT | CTGGAGAGAAAAGACCCCTCTGAAGAC    c.1080
 L  C  V  L  G  P  G  D  E  A  P   | L  E  R  K  D  P  S  E  D      p.360

          .         .         .         .         .         .       g.77684
 AAGGAGGACATTGAAAGCAACCTGCTCCGGCCCACAGGCGTAGCCCTGCGAGGAGCCCAC       c.1140
 K  E  D  I  E  S  N  L  L  R  P  T  G  V  A  L  R  G  A  H         p.380

          .         .         .         . | 13       .         .    g.79695
 TTCTGCCTGAAGGTCTTCCGGGCCGAGGACTTGCCGCAGA | TGGACGATGCCGTGATGGAC    c.1200
 F  C  L  K  V  F  R  A  E  D  L  P  Q  M |   D  D  A  V  M  D      p.400

          .         .         .         .         .         .       g.79755
 AACGTGAAACAGATCTTTGGCTTCGAGAGTAACAAGAAGAACTTGGTGGACCCCTTTGTG       c.1260
 N  V  K  Q  I  F  G  F  E  S  N  K  K  N  L  V  D  P  F  V         p.420

          .         .     | 14   .         .         .         .    g.86434
 GAGGTCAGCTTTGCGGGGAAAATG | CTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCT    c.1320
 E  V  S  F  A  G  K  M   | L  C  S  K  I  L  E  K  T  A  N  P      p.440

          .         .         .    | 15    .         .         .    g.86672
 CAGTGGAACCAGAACATCACACTGCCTGCCATG | TTTCCCTCCATGTGCGAAAAAATGAGG    c.1380
 Q  W  N  Q  N  I  T  L  P  A  M   | F  P  S  M  C  E  K  M  R      p.460

          .        | 16.         .         .         .         .    g.90577
 ATTCGTATCATAGACTG | GGACCGCCTGACTCACAATGACATCGTGGCTACCACCTACCTG    c.1440
 I  R  I  I  D  W  |  D  R  L  T  H  N  D  I  V  A  T  T  Y  L      p.480

          .         .         .         . | 17       .         .    g.100747
 AGTATGTCGAAAATCTCTGCCCCTGGAGGAGAAATAGAAG | AGGAGCCTGCAGGTGCTGTC    c.1500
 S  M  S  K  I  S  A  P  G  G  E  I  E  E |   E  P  A  G  A  V      p.500

          .         .   | 18     .         .         .         .    g.102456
 AAGCCTTCGAAAGCCTCAGACT | TGGATGACTACCTGGGCTTCCTCCCCACTTTTGGGCCC    c.1560
 K  P  S  K  A  S  D  L |   D  D  Y  L  G  F  L  P  T  F  G  P      p.520

          .         .         .         .         .         .       g.102516
 TGCTACATCAACCTCTATGGCAGTCCCAGAGAGTTCACAGGCTTCCCAGACCCCTACACA       c.1620
 C  Y  I  N  L  Y  G  S  P  R  E  F  T  G  F  P  D  P  Y  T         p.540

          .         | 19         .         .         .         .    g.103026
 GAGCTCAACACAGGCAAG | GGGGAAGGTGTGGCTTATCGTGGCCGGCTTCTGCTCTCCCTG    c.1680
 E  L  N  T  G  K   | G  E  G  V  A  Y  R  G  R  L  L  L  S  L      p.560

          .         .         .         .         .         .       g.103086
 GAGACCAAGCTGGTGGAGCACAGTGAACAGAAGGTGGAGGACCTTCCTGCGGATGACATC       c.1740
 E  T  K  L  V  E  H  S  E  Q  K  V  E  D  L  P  A  D  D  I         p.580

          .   | 20     .         .         .         .         .    g.104436
 CTCCGGGTGGAG | AAGTACCTTAGGAGGCGCAAGTACTCCCTGTTTGCGGCCTTCTACTCA    c.1800
 L  R  V  E   | K  Y  L  R  R  R  K  Y  S  L  F  A  A  F  Y  S      p.600

          .         .         .         .         .         .       g.104496
 GCCACCATGCTGCAGGATGTGGATGATGCCATCCAGTTTGAGGTCAGCATCGGGAACTAC       c.1860
 A  T  M  L  Q  D  V  D  D  A  I  Q  F  E  V  S  I  G  N  Y         p.620

          .         .         .         .         .         .       g.104556
 GGGAACAAGTTCGACATGACCTGCCTGCCGCTGGCCTCCACCACTCAGTACAGCCGTGCA       c.1920
 G  N  K  F  D  M  T  C  L  P  L  A  S  T  T  Q  Y  S  R  A         p.640

          . | 21       .         .         .         .         .    g.105234
 GTCTTTGACG | GGTGCCACTACTACTACCTACCCTGGGGTAACGTGAAACCTGTGGTGGTG    c.1980
 V  F  D  G |   C  H  Y  Y  Y  L  P  W  G  N  V  K  P  V  V  V      p.660

          .         .         .         .         .         .       g.105294
 CTGTCATCCTACTGGGAGGACATCAGCCATAGAATCGAGACTCAGAACCAGCTGCTTGGG       c.2040
 L  S  S  Y  W  E  D  I  S  H  R  I  E  T  Q  N  Q  L  L  G         p.680

          .      | 22  .         .         .         .         .    g.107387
 ATTGCTGACCGGCTG | GAAGCTGGCCTGGAGCAGGTCCACCTGGCCCTGAAGGCGCAGTGC    c.2100
 I  A  D  R  L   | E  A  G  L  E  Q  V  H  L  A  L  K  A  Q  C      p.700

          .         .         .         .         .         .       g.107447
 TCCACGGAGGACGTGGACTCGCTGGTGGCTCAGCTGACGGATGAGCTCATCGCAGGCTGC       c.2160
 S  T  E  D  V  D  S  L  V  A  Q  L  T  D  E  L  I  A  G  C         p.720

    | 23     .         .         .         .         .         .    g.113187
 AG | CCAGCCTCTGGGTGACATCCATGAGACACCCTCTGCCACCCACCTGGACCAGTACCTG    c.2220
 S  |  Q  P  L  G  D  I  H  E  T  P  S  A  T  H  L  D  Q  Y  L      p.740

          .         .         .         .         .         .       g.113247
 TACCAGCTGCGCACCCATCACCTGAGCCAAATCACTGAGGCTGCCCTGGCCCTGAAGCTC       c.2280
 Y  Q  L  R  T  H  H  L  S  Q  I  T  E  A  A  L  A  L  K  L         p.760

          .         .         .         .         .         .       g.113307
 GGCCACAGTGAGCTCCCTGCAGCTCTGGAGCAGGCGGAGGACTGGCTCCTGCGTCTGCGT       c.2340
 G  H  S  E  L  P  A  A  L  E  Q  A  E  D  W  L  L  R  L  R         p.780

          .      | 24  .         .         .         .         .    g.115480
 GCCCTGGCAGAGGAG | CCCCAGAACAGCCTGCCGGACATCGTCATCTGGATGCTGCAGGGA    c.2400
 A  L  A  E  E   | P  Q  N  S  L  P  D  I  V  I  W  M  L  Q  G      p.800

          .         .         .         .         .         .       g.115540
 GACAAGCGTGTGGCATACCAGCGGGTGCCCGCCCACCAAGTCCTCTTCTCCCGGCGGGGT       c.2460
 D  K  R  V  A  Y  Q  R  V  P  A  H  Q  V  L  F  S  R  R  G         p.820

          .         .         .         .         .  | 25      .    g.119337
 GCCAACTACTGTGGCAAGAATTGTGGGAAGCTACAGACAATCTTTCTGAAA | TATCCGATG    c.2520
 A  N  Y  C  G  K  N  C  G  K  L  Q  T  I  F  L  K   | Y  P  M      p.840

          .         .         .         .         .         .       g.119397
 GAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTC       c.2580
 E  K  V  P  G  A  R  M  P  V  Q  I  R  V  K  L  W  F  G  L         p.860

          .         .         .         .         .         .       g.119457
 TCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAA       c.2640
 S  V  D  E  K  E  F  N  Q  F  A  E  G  K  L  S  V  F  A  E         p.880

     | 26    .         .         .         .         .         .    g.119606
 ACC | TATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACC    c.2700
 T   | Y  E  N  E  T  K  L  A  L  V  G  N  W  G  T  T  G  L  T      p.900

          .         .         .         .         .         .       g.119666
 TACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCC       c.2760
 Y  P  K  F  S  D  V  T  G  K  I  K  L  P  K  D  S  F  R  P         p.920

          .         .         .         .         . | 27       .    g.121207
 TCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGAC | TCTGCTCCAT    c.2820
 S  A  G  W  T  W  A  G  D  W  F  V  C  P  E  K  T  |  L  L  H      p.940

          .         .         .         .         .         .       g.121267
 GACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTT       c.2880
 D  M  D  A  G  H  L  S  F  V  E  E  V  F  E  N  Q  T  R  L         p.960

          .         .         .         .      | 28  .         .    g.121621
 CCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTG | AACGGGGAGAAGGTG    c.2940
 P  G  G  Q  W  I  Y  M  S  D  N  Y  T  D  V   | N  G  E  K  V      p.980

          .         .         .         .         .         .       g.121681
 CTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCC       c.3000
 L  P  K  D  D  I  E  C  P  L  G  W  K  W  E  D  E  E  W  S         p.1000

          .         .         .  | 29      .         .         .    g.122005
 ACAGACCTCAACCGGGCTGTCGATGAGCAAG | GCTGGGAGTATAGCATCACCATCCCCCCG    c.3060
 T  D  L  N  R  A  V  D  E  Q  G |   W  E  Y  S  I  T  I  P  P      p.1020

          .         .         .         .         .         .       g.122065
 GAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGG       c.3120
 E  R  K  P  K  H  W  V  P  A  E  K  M  Y  Y  T  H  R  R  R         p.1040

          .         .         .         .         .     | 30   .    g.125581
 CGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGG | CACAGG    c.3180
 R  W  V  R  L  R  R  R  D  L  S  Q  M  E  A  L  K  R   | H  R      p.1060

          .         .         .         .         .         .       g.125641
 CAGGCGGAGGCGGAGGGCGAGGGCTGGGAGTACGCCTCTCTTTTTGGCTGGAAGTTCCAC       c.3240
 Q  A  E  A  E  G  E  G  W  E  Y  A  S  L  F  G  W  K  F  H         p.1080

          .         .         .         .         .         .       g.125701
 CTCGAGTACCGCAAGACAGATGCCTTCCGCCGCCGCCGCTGGCGCCGTCGCATGGAGCCA       c.3300
 L  E  Y  R  K  T  D  A  F  R  R  R  R  W  R  R  R  M  E  P         p.1100

          .         .         .         .         | 31         .    g.140982
 CTGGAGAAGACGGGGCCTGCAGCTGTGTTTGCCCTTGAGGGGGCCCTG | GGCGGCGTGATG    c.3360
 L  E  K  T  G  P  A  A  V  F  A  L  E  G  A  L   | G  G  V  M      p.1120

          .         .         .         .         .         .       g.141042
 GATGACAAGAGTGAAGATTCCATGTCCGTCTCCACCTTGAGCTTCGGTGTGAACAGACCC       c.3420
 D  D  K  S  E  D  S  M  S  V  S  T  L  S  F  G  V  N  R  P         p.1140

          .         .   | 32     .         .         .         .    g.141626
 ACGATTTCCTGCATATTCGACT | ATGGGAACCGCTACCATCTACGCTGCTACATGTACCAG    c.3480
 T  I  S  C  I  F  D  Y |   G  N  R  Y  H  L  R  C  Y  M  Y  Q      p.1160

          .         .         .         . | 33       .         .    g.149961
 GCCCGGGACCTGGCTGCGATGGACAAGGACTCTTTTTCTG | ATCCCTATGCCATCGTCTCC    c.3540
 A  R  D  L  A  A  M  D  K  D  S  F  S  D |   P  Y  A  I  V  S      p.1180

          .         .         .         .         .         .       g.150021
 TTCCTGCACCAGAGCCAGAAGACGGTGGTGGTGAAGAACACCCTTAACCCCACCTGGGAC       c.3600
 F  L  H  Q  S  Q  K  T  V  V  V  K  N  T  L  N  P  T  W  D         p.1200

          .         .         .         .         .         .       g.150081
 CAGACGCTCATCTTCTACGAGATCGAGATCTTTGGCGAGCCGGCCACAGTTGCTGAGCAA       c.3660
 Q  T  L  I  F  Y  E  I  E  I  F  G  E  P  A  T  V  A  E  Q         p.1220

          .         .         .         .   | 34     .         .    g.152097
 CCGCCCAGCATTGTGGTGGAGCTGTACGACCATGACACTTAT | GGTGCAGACGAGTTTATG    c.3720
 P  P  S  I  V  V  E  L  Y  D  H  D  T  Y   | G  A  D  E  F  M      p.1240

          .         .         .         .         .         .       g.152157
 GGTCGCTGCATCTGTCAACCGAGTCTGGAACGGATGCCACGGCTGGCCTGGTTCCCACTG       c.3780
 G  R  C  I  C  Q  P  S  L  E  R  M  P  R  L  A  W  F  P  L         p.1260

          .         .         .         .         .         .       g.152217
 ACGAGGGGCAGCCAGCCGTCGGGGGAGCTGCTGGCCTCTTTTGAGCTCATCCAGAGAGAG       c.3840
 T  R  G  S  Q  P  S  G  E  L  L  A  S  F  E  L  I  Q  R  E         p.1280

     | 35    .         .         .    | 36    .         .         . g.154180
 AAG | CCGGCCATCCACCATATTCCTGGTTTTGAG | GTGCAGGAGACATCAAGGATCCTGGAT c.3900
 K   | P  A  I  H  H  I  P  G  F  E   | V  Q  E  T  S  R  I  L  D   p.1300

     | 37    .         .         .         .         .         .    g.162679
 GAG | TCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATG    c.3960
 E   | S  E  D  T  D  L  P  Y  P  P  P  Q  R  E  A  N  I  Y  M      p.1320

          .         .         .         .      | 38  .         .    g.162857
 GTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAG | ATCCTGGCATGGGGC    c.4020
 V  P  Q  N  I  K  P  A  L  Q  R  T  A  I  E   | I  L  A  W  G      p.1340

          .         .         .         .         .         .       g.162917
 CTGCGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAG       c.4080
 L  R  N  M  K  S  Y  Q  L  A  N  I  S  S  P  S  L  V  V  E         p.1360

          .         .         .         .         .         .       g.162977
 TGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTT       c.4140
 C  G  G  Q  T  V  Q  S  C  V  I  R  N  L  R  K  N  P  N  F         p.1380

          .         .        | 39.         .         .         .    g.164051
 GACATCTGCACCCTCTTCATGGAAGTG | ATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCC    c.4200
 D  I  C  T  L  F  M  E  V   | M  L  P  R  E  E  L  Y  C  P  P      p.1400

          .         .         .         .         .         .       g.164111
 ATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGT       c.4260
 I  T  V  K  V  I  D  N  R  Q  F  G  R  R  P  V  V  G  Q  C         p.1420

          .         .         .         .         .         .       g.164171
 ACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCA       c.4320
 T  I  R  S  L  E  S  F  L  C  D  P  Y  S  A  E  S  P  S  P         p.1440

          .    | 40    .         .         .         .         .    g.164758
 CAGGGTGGCCCAG | ACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATT    c.4380
 Q  G  G  P  D |   D  V  S  L  L  S  P  G  E  D  V  L  I  D  I      p.1460

          .         .         . | 41       .         .         .    g.195372
 GATGACAAGGAGCCCCTCATCCCCATCCAG | GAGGAAGAGTTCATCGATTGGTGGAGCAAA    c.4440
 D  D  K  E  P  L  I  P  I  Q   | E  E  E  F  I  D  W  W  S  K      p.1480
                                ^  alternatively spliced exon 40b

          .         .         .         .         .         .       g.195432
 TTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGAC       c.4500
 F  F  A  S  I  G  E  R  E  K  C  G  S  Y  L  E  K  D  F  D         p.1500

           | 42        .         .         .         .         .    g.207590
 ACCCTGAAG | GTCTATGACACACAGCTGGAGAATGTGGAGGCCTTTGAGGGCCTGTCTGAC    c.4560
 T  L  K   | V  Y  D  T  Q  L  E  N  V  E  A  F  E  G  L  S  D      p.1520

          .         .         .         .         .         .       g.207650
 TTTTGTAACACCTTCAAGCTGTACCGGGGCAAGACGCAGGAGGAGACAGAAGATCCATCT       c.4620
 F  C  N  T  F  K  L  Y  R  G  K  T  Q  E  E  T  E  D  P  S         p.1540

          .         | 43         .         .         .         .    g.210297
 GTGATTGGTGAATTTAAG | GGCCTCTTCAAAATTTATCCCCTCCCAGAAGACCCAGCCATC    c.4680
 V  I  G  E  F  K   | G  L  F  K  I  Y  P  L  P  E  D  P  A  I      p.1560

          .         .         .         .         .         .       g.210357
 CCCATGCCCCCAAGACAGTTCCACCAGCTGGCCGCCCAGGGACCCCAGGAGTGCTTGGTC       c.4740
 P  M  P  P  R  Q  F  H  Q  L  A  A  Q  G  P  Q  E  C  L  V         p.1580

          .         .         .         .         .     | 44   .    g.211943
 CGTATCTACATTGTCCGAGCATTTGGCCTGCAGCCCAAGGACCCCAATGGAAAG | TGTGAT    c.4800
 R  I  Y  I  V  R  A  F  G  L  Q  P  K  D  P  N  G  K   | C  D      p.1600

          .         .         .         .         .         .       g.212003
 CCTTACATCAAGATCTCCATAGGGAAGAAATCAGTGAGTGACCAGGATAACTACATCCCC       c.4860
 P  Y  I  K  I  S  I  G  K  K  S  V  S  D  Q  D  N  Y  I  P         p.1620

          .         .       | 45 .         .         .         .    g.215679
 TGCACGCTGGAGCCCGTATTTGGAAA | GATGTTCGAGCTGACCTGCACTCTGCCTCTGGAG    c.4920
 C  T  L  E  P  V  F  G  K  |  M  F  E  L  T  C  T  L  P  L  E      p.1640

          .         .         .         .         .         .       g.215739
 AAGGACCTAAAGATCACTCTCTATGACTATGACCTCCTCTCCAAGGACGAAAAGATCGGT       c.4980
 K  D  L  K  I  T  L  Y  D  Y  D  L  L  S  K  D  E  K  I  G         p.1660

          .         .         .         .         .         .       g.215799
 GAGACGGTCGTCGACCTGGAGAACAGGCTGCTGTCCAAGTTTGGGGCTCGCTGTGGACTC       c.5040
 E  T  V  V  D  L  E  N  R  L  L  S  K  F  G  A  R  C  G  L         p.1680

          .        | 46.         .         .         .         .    g.216582
 CCACAGACCTACTGTGT | CTCTGGACCGAACCAGTGGCGGGACCAGCTCCGCCCCTCCCAG    c.5100
 P  Q  T  Y  C  V  |  S  G  P  N  Q  W  R  D  Q  L  R  P  S  Q      p.1700

          .         .         .         .         .         .       g.216642
 CTCCTCCACCTCTTCTGCCAGCAGCATAGAGTCAAGGCACCTGTGTACCGGACAGACCGT       c.5160
 L  L  H  L  F  C  Q  Q  H  R  V  K  A  P  V  Y  R  T  D  R         p.1720

          .         .         .         . | 47       .         .    g.218773
 GTAATGTTTCAGGATAAAGAATATTCCATTGAAGAGATAG | AGGCTGGCAGGATCCCAAAC    c.5220
 V  M  F  Q  D  K  E  Y  S  I  E  E  I  E |   A  G  R  I  P  N      p.1740

          .         .         .         .         .         .       g.218833
 CCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTG       c.5280
 P  H  L  G  P  V  E  E  R  L  A  L  H  V  L  Q  Q  Q  G  L         p.1760

          .         .         .         .         .         .       g.218893
 GTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAG       c.5340
 V  P  E  H  V  E  S  R  P  L  Y  S  P  L  Q  P  D  I  E  Q         p.1780

  | 48       .         .         .         .         .         .    g.220191
  | GGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCC    c.5400
  | G  K  L  Q  M  W  V  D  L  F  P  K  A  L  G  R  P  G  P  P      p.1800

          .         .          | 49        .         .         .    g.220520
 TTCAACATCACCCCACGGAGAGCCAGAAG | GTTTTTCCTGCGTTGTATTATCTGGAATACC    c.5460
 F  N  I  T  P  R  R  A  R  R  |  F  F  L  R  C  I  I  W  N  T      p.1820

          .         .         .         .         .         .       g.220580
 AGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTG       c.5520
 R  D  V  I  L  D  D  L  S  L  T  G  E  K  M  S  D  I  Y  V         p.1840

       | 50  .         .         .         .         .         .    g.221037
 AAAGG | TTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCC    c.5580
 K  G  |  W  M  I  G  F  E  E  H  K  Q  K  T  D  V  H  Y  R  S      p.1860

          .         .         .         .         .         .       g.221097
 CTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCT       c.5640
 L  G  G  E  G  N  F  N  W  R  F  I  F  P  F  D  Y  L  P  A         p.1880

          .         .        | 51.         .         .         .    g.225607
 GAGCAAGTCTGTACCATTGCCAAGAAG | GATGCCTTCTGGAGGCTGGACAAGACTGAGAGC    c.5700
 E  Q  V  C  T  I  A  K  K   | D  A  F  W  R  L  D  K  T  E  S      p.1900

          .         .         .         .         .         .       g.225667
 AAAATCCCAGCACGAGTGGTGTTCCAGATCTGGGACAATGACAAGTTCTCCTTTGATGAT       c.5760
 K  I  P  A  R  V  V  F  Q  I  W  D  N  D  K  F  S  F  D  D         p.1920

         | 52.         .         .         .         .         .    g.230487
 TTTCTGG | GCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAG    c.5820
 F  L  G |   S  L  Q  L  D  L  N  R  M  P  K  P  A  K  T  A  K      p.1940

          .         .         .         .         .         .       g.230547
 AAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTT       c.5880
 K  C  S  L  D  Q  L  D  D  A  F  H  P  E  W  F  V  S  L  F         p.1960

          .         .         .         .         .         .       g.230607
 GAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATA       c.5940
 E  Q  K  T  V  K  G  W  W  P  C  V  A  E  E  G  E  K  K  I         p.1980

        | 53 .         .         .         .         .         .    g.232432
 CTGGCG | GGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGG    c.6000
 L  A   | G  K  L  E  M  T  L  E  I  V  A  E  S  E  H  E  E  R      p.2000

          .         .         .         .         .       | 54 .    g.233911
 CCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAG | GCGC    c.6060
 P  A  G  Q  G  R  D  E  P  N  M  N  P  K  L  E  D  P  R  |  R      p.2020

          .         .         .         .         .         .       g.233971
 CCCGACACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGG       c.6120
 P  D  T  S  F  L  W  F  T  S  P  Y  K  T  M  K  F  I  L  W         p.2040

          .         .         .         .         .         .       g.234031
 CGGCGTTTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTG       c.6180
 R  R  F  R  W  A  I  I  L  F  I  I  L  F  I  L  L  L  F  L         p.2060

          .         .     | 55   .         .         .         .    g.237867
 GCCATCTTCATCTACGCCTTCCCG | AACTATGCTGCCATGAAGCTGGTGAAGCCCTTCAGC    c.6240
 A  I  F  I  Y  A  F  P   | N  Y  A  A  M  K  L  V  K  P  F  S      p.2080

                                                                    g.237870
 TGA                                                                c.6243
 X                                                                  p.2080

          .         .         .         .         .         .       g.237930
 ggactctcctgccctgtagaaggggccgtggggtcccctccagcatgggactggcctgcc       c.*60

          .         .         .         .         .         .       g.237990
 tcctccgcccagctcggcgagctcctccagacctcctaggcctgattgtcctgccagggt       c.*120

          .         .         .         .         .         .       g.238050
 gggcagacagacagatggaccggcccacactcccagagttgctaacatggagctctgaga       c.*180

          .         .         .         .         .         .       g.238110
 tcaccccacttccatcatttccttctcccccaacccaacgcttttttggatcagctcaga       c.*240

          .         .         .                                     g.238141
 catatttcagtataaaacagttggaaccaca                                    c.*271

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Dysferlin protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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