Dystrobrevin alpha (DTNA) - coding DNA reference sequence

(used for mutation description)

(last modified November 13, 2010)


This file was created to facilitate the description of sequence variants in the DTNA gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_009201.1, covering DTNA transcript NM_001390.4, extended with 5' exons 1 and 2 taken from NM_032975.3.

Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5051
          aggatgagatcatagtttcaggatcctcaggaaaccctggtactggcagca       c.-301

 .         .         .         .         .         .                g.5111
 gccagcctctgctgtgcccacatgacccacaactctggcagcggacccggcacttccaac       c.-241

 .         .         .         .         .         .                g.5171
 attattaaataataagaaagcggctcctactccaggctcaaacctccctgcagaccaatg       c.-181

 .         .         .         .         .         .    | 02        g.191184
 gacaccttctaagagtttggcgagtcagtgactgaagcgcccgtccattccaag | ataaat    c.-121

 .         .         .         .         .         .                g.191244
 aggatttaccaatccttggatgaagtgcttgggaagtctttaagtgccataatcaactgc       c.-61

 .         .         .         .         .         .         | 03    g.267687
 catttcaaagaatatagatggttttgaaaagttcatgctgtcccttcattgaattttag | a    c.-1

          .         .         .         .         .         .       g.267747
 ATGATTGAAGATAGTGGGAAAAGAGGAAATACCATGGCAGAAAGAAGACAGCTGTTTGCA       c.60
 M  I  E  D  S  G  K  R  G  N  T  M  A  E  R  R  Q  L  F  A         p.20

         | 04.         .         .         .         .         .    g.277724
 GAGATGA | GGGCTCAAGATCTGGATCGCATCCGACTCTCCACCTACAGAACAGCATGCAAG    c.120
 E  M  R |   A  Q  D  L  D  R  I  R  L  S  T  Y  R  T  A  C  K      p.40

          .         .         | 05         .         .         .    g.305779
 CTTAGGTTTGTTCAGAAGAAATGCAATT | TGCACCTGGTGGACATATGGAATGTCATAGAA    c.180
 L  R  F  V  Q  K  K  C  N  L |   H  L  V  D  I  W  N  V  I  E      p.60

          .         .         .         .         .         .       g.305839
 GCATTGCGGGAAAATGCTCTGAACAACCTGGACCCAAACACTGAACTCAACGTGTCCCGC       c.240
 A  L  R  E  N  A  L  N  N  L  D  P  N  T  E  L  N  V  S  R         p.80

          .         .         .         .         .         .       g.305899
 TTAGAGGCTGTGCTCTCCACTATTTTTTACCAGCTCAACAAACGGATGCCAACCACTCAC       c.300
 L  E  A  V  L  S  T  I  F  Y  Q  L  N  K  R  M  P  T  T  H         p.100

          .         .         .         .         .         .       g.305959
 CAAATCCATGTGGAGCAGTCCATCAGCCTCCTCCTTAACTTCCTGCTTGCAGCGTTTGAT       c.360
 Q  I  H  V  E  Q  S  I  S  L  L  L  N  F  L  L  A  A  F  D         p.120

    | 06     .         .         .         .         .         .    g.317987
 CC | GGAAGGCCATGGTAAAATTTCAGTATTTGCTGTCAAAATGGCTTTAGCCACATTGTGT    c.420
 P  |  E  G  H  G  K  I  S  V  F  A  V  K  M  A  L  A  T  L  C      p.140

          .         .         | 07         .         .         .    g.323701
 GGAGGGAAGATCATGGACAAATTAAGAT | ATATTTTCTCAATGATTTCTGACTCCAGTGGG    c.480
 G  G  K  I  M  D  K  L  R  Y |   I  F  S  M  I  S  D  S  S  G      p.160

          .         .         .         .         .         .       g.323761
 GTGATGGTTTATGGACGATATGACCAATTCCTTCGGGAAGTTCTCAAACTACCCACGGCA       c.540
 V  M  V  Y  G  R  Y  D  Q  F  L  R  E  V  L  K  L  P  T  A         p.180

          .         .         .         .         .         .       g.323821
 GTTTTTGAAGGTCCTTCATTTGGTTACACAGAACAGTCAGCCAGATCCTGTTTCTCCCAA       c.600
 V  F  E  G  P  S  F  G  Y  T  E  Q  S  A  R  S  C  F  S  Q         p.200

     | 08    .         .         .         .         .         .    g.327676
 CAG | AAAAAAGTCACGTTAAATGGTTTCTTGGACACGCTTATGTCAGATCCTCCCCCGCAG    c.660
 Q   | K  K  V  T  L  N  G  F  L  D  T  L  M  S  D  P  P  P  Q      p.220

          .         .         .         .          | 09        .    g.329885
 TGTCTGGTCTGGTTGCCTCTTCTGCATCGACTAGCAAATGTGGAAAATG | TCTTCCATCCG    c.720
 C  L  V  W  L  P  L  L  H  R  L  A  N  V  E  N  V |   F  H  P      p.240

          .         .         .         .         .         .       g.329945
 GTTGAGTGTTCCTACTGCCACAGTGAGAGTATGATGGGATTTCGCTACCGATGCCAACAG       c.780
 V  E  C  S  Y  C  H  S  E  S  M  M  G  F  R  Y  R  C  Q  Q         p.260

          .         .         .         .         .         .       g.330005
 TGTCACAATTACCAGCTCTGTCAGGACTGCTTCTGGAGGGGACATGCCGGTGGTTCTCAT       c.840
 C  H  N  Y  Q  L  C  Q  D  C  F  W  R  G  H  A  G  G  S  H         p.280

          .         .         .       | 10 .         .         .    g.332525
 AGCAACCAGCACCAAATGAAAGAGTACACGTCATGG | AAATCACCTGCTAAGAAGCTGACT    c.900
 S  N  Q  H  Q  M  K  E  Y  T  S  W   | K  S  P  A  K  K  L  T      p.300

          .         .         .         .         .         .       g.332585
 AATGCATTAAGCAAGTCCCTGAGCTGTGCTTCCAGCCGTGAACCTTTGCACCCCATGTTC       c.960
 N  A  L  S  K  S  L  S  C  A  S  S  R  E  P  L  H  P  M  F         p.320

          .         .         .         .  | 11      . | 12       . g.339313
 CCAGATCAGCCTGAGAAGCCACTCAACTTGGCTCACATCGT | TGATACTTG | GCCTCCCAGA c.1020
 P  D  Q  P  E  K  P  L  N  L  A  H  I  V  |  D  T  W  |  P  P  R   p.340

          .         .         .         .         .         .       g.339373
 CCTGTAACCAGCATGAACGACACCCTGTTCTCCCACTCTGTTCCCTCCTCAGGAAGTCCT       c.1080
 P  V  T  S  M  N  D  T  L  F  S  H  S  V  P  S  S  G  S  P         p.360

          .     | 13   .         .         .         .         .    g.349850
 TTTATTACCAGGAG | CTCTCCTCCCAAGGACAGTGAAGTAGAGCAGAACAAACTGCTGGCT    c.1140
 F  I  T  R  S  |  S  P  P  K  D  S  E  V  E  Q  N  K  L  L  A      p.380

          .         .         .   | 14     .         .         .    g.350483
 AGGGCTGCTCCAGCTTTTCTGAAGGGCAAAGG | GATACAGTACAGCCTGAATGTGGCAGAC    c.1200
 R  A  A  P  A  F  L  K  G  K  G  |  I  Q  Y  S  L  N  V  A  D      p.400

          .         .         .         .         .         .       g.350543
 AGGCTAGCTGATGAACATGTTCTCATCGGGTTGTATGTCAACATGCTCCGGAACAACCCC       c.1260
 R  L  A  D  E  H  V  L  I  G  L  Y  V  N  M  L  R  N  N  P         p.420

       | 15  .         .         .         .         .         .    g.360061
 TCATG | CATGCTTGAGAGTTCAAACCGGCTTGATGAAGAACACAGGCTAATTGCCAGGTAT    c.1320
 S  C  |  M  L  E  S  S  N  R  L  D  E  E  H  R  L  I  A  R  Y      p.440

          .         .         .    | 16    .         .         .    g.363568
 GCGGCAAGGCTGGCAGCAGAGTCCTCTTCGTCT | CAGCCACCTCAGCAGAGAAGTGCTCCT    c.1380
 A  A  R  L  A  A  E  S  S  S  S   | Q  P  P  Q  Q  R  S  A  P      p.460

          .         .         .         .         .         .       g.363628
 GACATCTCTTTCACCATCGATGCGAATAAGCAGCAAAGGCAGCTGATTGCTGAGCTAGAA       c.1440
 D  I  S  F  T  I  D  A  N  K  Q  Q  R  Q  L  I  A  E  L  E         p.480

          .  | 17      .         .         .         .         .    g.370044
 AACAAGAACAG | AGAAATCTTACAGGAGATCCAGAGACTTCGGCTAGAGCATGAACAAGCT    c.1500
 N  K  N  R  |  E  I  L  Q  E  I  Q  R  L  R  L  E  H  E  Q  A      p.500

          .         .         .         .         .         .       g.370104
 TCTCAGCCCACGCCAGAGAAGGCACAGCAAAACCCCACCCTGCTGGCAGAACTCCGGCTC       c.1560
 S  Q  P  T  P  E  K  A  Q  Q  N  P  T  L  L  A  E  L  R  L         p.520

       | 18  .         .         .         .         .         .    g.375731
 CTCAG | ACAGCGCAAAGATGAGCTGGAACAGAGAATGTCTGCTCTCCAGGAGAGCCGGAGA    c.1620
 L  R  |  Q  R  K  D  E  L  E  Q  R  M  S  A  L  Q  E  S  R  R      p.540

          .         .         .         .   | 19     .         .    g.386967
 GAGCTAATGGTCCAGTTGGAGGGTCTCATGAAGCTACTAAAG | ACTCAGGGGGCAGGCTCT    c.1680
 E  L  M  V  Q  L  E  G  L  M  K  L  L  K   | T  Q  G  A  G  S      p.560

          .         .         .         .         .         .       g.387027
 CCCCGCTCCTCCCCCAGCCACACCATCAGCAGGCCAATTCCCATGCCCATCCGGTCAGCG       c.1740
 P  R  S  S  P  S  H  T  I  S  R  P  I  P  M  P  I  R  S  A         p.580

          .         .         .         .         .         .       g.387087
 TCAGCCTGCTCCACCCCGACGCACACGCCGCAGGACTCCCTCACAGGAGTAGGGGGAGAT       c.1800
 S  A  C  S  T  P  T  H  T  P  Q  D  S  L  T  G  V  G  G  D         p.600

          .         .   | 20     .         .         .         .    g.389467
 GTACAAGAGGCATTTGCACAAA | GTTCAAGAAGAAACTTAAGGAATGACTTGCTAGTGGCT    c.1860
 V  Q  E  A  F  A  Q  S |   S  R  R  N  L  R  N  D  L  L  V  A      p.620

          .         .         .         .         .   | 21     .    g.391269
 GCAGATTCCATCACTAACACTATGTCCTCTCTTGTGAAAGAGCTGAATTCTG | AGGTTGGG    c.1920
 A  D  S  I  T  N  T  M  S  S  L  V  K  E  L  N  S  E |   V  G      p.640

          .         .         .         .         .         .       g.391329
 AGTGAAACAGAGAGTAATGTGGATTCTGAATTTGCACGGACTCAGTTTGAGGATCTTGTT       c.1980
 S  E  T  E  S  N  V  D  S  E  F  A  R  T  Q  F  E  D  L  V         p.660

          .         .         .         .         .         .       g.391389
 CCCTCACCAACCTCTGAAAAGGCTTTTCTAGCGCAAATCCATGCCCGAAAACCTGGGTAC       c.2040
 P  S  P  T  S  E  K  A  F  L  A  Q  I  H  A  R  K  P  G  Y         p.680

          .         .         .         .  | 22      .         .    g.393798
 ATTCACAGTGGAGCTACCACAAGTACCATGCGTGGCGACAT | GGTTACGGAGGATGCAGAT    c.2100
 I  H  S  G  A  T  T  S  T  M  R  G  D  M  |  V  T  E  D  A  D      p.700

          .         .         .         .         .         .       g.393858
 CCCTATGTGCAGCCTGAAGATGAAAACTATGAAAATGACTCTGTCCGGCAGCTGGAGAAT       c.2160
 P  Y  V  Q  P  E  D  E  N  Y  E  N  D  S  V  R  Q  L  E  N         p.720

          .         .         .         .         .     | 23   .    g.396444
 GAGCTCCAGATGGAGGAATACCTGAAACAGAAGCTGCAAGATGAAGCTTATCAG | GTCAGC    c.2220
 E  L  Q  M  E  E  Y  L  K  Q  K  L  Q  D  E  A  Y  Q   | V  S      p.740

          .                                                     g.396456
 TTGCAAGGTTGA |                                                    c.2233
 L  Q  G  X                                                      p.743

          .         .         .  | 24      .         .         .    g.399505
 atgcaatatccttttatcacactcctctcaa | gcaagctatagtcagacagatgatgaaag    c.*60

          .         .         .         .         .         .       g.399565
 taacatgaaaactggtgatgatggagagccctgtggccacacagaggaggaagacagcag       c.*120

          .         .         .         .         .         .       g.399625
 cctggcagcagcctcaccgaagagaggaaccaccacacccagcagctcctgacagacccc       c.*180

          .         .         .         .         .         .       g.399685
 cacccctaaagatgtgtcctgatgactatagtgcagctaactttttgttctcagatttgt       c.*240

          .         .         .         .         .         .       g.399745
 agtgcataggtgtgtgtttcaagaaggaaaaaaaaagacttctgttcaaagttaacttat       c.*300

          .         .         .         .         .         .       g.399805
 cagctacatcctctgtaacgtggttcatccctggttaaaaagcaaacaaacacaggctga       c.*360

          .         .         .         .         .         .       g.399865
 aaacccatgctgctgttatacacaatggcagtattaacaagcattttaaacctttgcaca       c.*420

          .         .         .         .         .         .       g.399925
 tgatattgaacctgttcagtttacaatgacaatattaatactgtttatagctagaagttt       c.*480

          .         .         .         .         .         .       g.399985
 gatttctgaattctttgagattttagcaaaacagtttattatacactgtacatttttttc       c.*540

          .         .         .         .         .         .       g.400045
 acagcaattggaaaaaaacaaccacttgcaatcattcaataaccctgaagaatttggttc       c.*600

          .         .         .         .         .         .       g.400105
 ctgagtgtacaaactcagagcccggaagccaagaagggtccttggcctgcacggtctgta       c.*660

          .         .         .         .         .         .       g.400165
 gttgactccaagtctctgtgagcagtgacttgaaccaaacacaccaggaataatccattc       c.*720

          .         .         .         .         .         .       g.400225
 tttggggcctctttccaactcgaggttgttttctttcaagatactctaatcagccataga       c.*780

          .         .         .         .         .         .       g.400285
 atttagtgtaaatatttttttttccaaatagatatcatattcaaaaaaggcagcattcaa       c.*840

          .         .         .         .         .         .       g.400345
 attatatagaatctagtttttaaaatcagcacagatcttcttaaaaactgtgaactatgt       c.*900

          .         .         .         .         .         .       g.400405
 tttgaaatactcgttactaaagctgtttataaaccacaggtgccataagatccccaaacg       c.*960

          .         .         .         .         .         .       g.400465
 gactaaagttatctctgctcttccatggtcttgttcctctcgttttggctttaggaagca       c.*1020

          .         .         .         .         .         .       g.400525
 tgtctttaacagcaccgctcgttcacaagttcccccatcaagttgtttggaggccttcag       c.*1080

          .         .         .         .         .         .       g.400585
 ctttaaatgtacaggcttaaagtgcgcttgcaaacgtttgctctcctttttttctgaatg       c.*1140

          .         .         .         .         .         .       g.400645
 ttgattgccttagctggccacctggtgttctgcatgtagccttctgtggtcatgtgaaag       c.*1200

          .         .         .         .         .         .       g.400705
 gagacaggctcttctaagttgagttgggatttttgcactcagtgaaaagctgaagtgcaa       c.*1260

          .         .         .         .         .         .       g.400765
 aagagctatcaaagacaagaggataaaagactgggatagtcttttccaaggaccctcttt       c.*1320

          .         .         .         .         .         .       g.400825
 agagggccctaaagacctcctttgggaattctggggaaaaagaaaaagtaatcttctact       c.*1380

          .         .         .         .         .         .       g.400885
 tgcttcaagatttgatttttttaaaaaagcctgcgacctattcaatacattatgcttaaa       c.*1440

          .         .         .         .         .         .       g.400945
 ttagcagtttctctggaattcctgtctctcctttaaaagaaaggagagaacattttagaa       c.*1500

          .         .         .         .         .         .       g.401005
 caatagttctcaaagtgtgttccccggacaagcagcatctgcaacacttaggaaggtctt       c.*1560

          .         .         .         .         .         .       g.401065
 cgaaatactaatttgtaagccccacctcaggcctactgaatcagaagctctgggggttgg       c.*1620

          .         .         .         .         .         .       g.401125
 gtccagaagtctgttttagtcaaccctctaggtgattctgatgctcgctaaaggttgaga       c.*1680

          .         .         .         .         .         .       g.401185
 actactgctttagaatgaagtcgtataataaagtctctgaaaaggccttattcagaataa       c.*1740

          .         .         .         .         .         .       g.401245
 gcaagaaaggttctgtgattcacttttgcttctggggctggcaaaaaccttctctgaacc       c.*1800

          .         .         .         .         .         .       g.401305
 cacacaccaagttcgtagttggtaggtgcccagccaagtcctgacatcttcatgccccct       c.*1860

          .         .         .         .         .         .       g.401365
 ctgcagagggcggctgtacgatgttcacatgtctgcgtttggtcagacatcatctccttg       c.*1920

          .         .         .         .         .         .       g.401425
 gctgccctttgaaaccaaatcacttgccttggggataaagtgctcaattggcattagtga       c.*1980

          .         .         .         .         .         .       g.401485
 gaagcccatcctatcccttgacatacttaatcatatatctctccagagaactcacctgac       c.*2040

          .         .         .         .         .         .       g.401545
 aaatgtctctgagcacaggctgacaccaaagtggcacaactgcacagttctcagatttct       c.*2100

          .         .         .         .         .         .       g.401605
 ttgcacagattgatttttattgcgggttttgttggggtgtcttaatgttcatctcttttc       c.*2160

          .         .         .         .         .         .       g.401665
 cactgcccatcctctgtgaacccatacctctctagatggagcaggtggccactggtgcct       c.*2220

          .         .         .         .         .         .       g.401725
 catactcagtattgaaaaccactacatcccagctacctataatgctgtcagctcaaaatc       c.*2280

          .         .         .         .         .         .       g.401785
 atagccaggtagttcttgaactcagaacttaaatcctgcacgtggcactccaccactgac       c.*2340

          .         .         .         .         .         .       g.401845
 tggaccgagctggcatatgttgtttctttgtgtttctacatcaaaatgttcgtctaagat       c.*2400

          .         .         .         .         .         .       g.401905
 ttgaactgttctgctgataaccttccccgttgtcatagctatttcattgccaaccaactc       c.*2460

          .         .         .         .         .         .       g.401965
 catcacatggttgttgatatcgtcatataaagccattgcaaggactctggaaactgccgc       c.*2520

          .         .         .         .         .         .       g.402025
 caatgaccaatttctgactaaccagccaccttttctctctcttagctccacgtcagcact       c.*2580

          .         .         .         .         .         .       g.402085
 gagaccagactcgagcacccctgtcctgtaagcgagacaaaatggcgtgtgttattttgg       c.*2640

          .         .         .         .         .         .       g.402145
 ggttttgtgttttttggtgggtttctttccttggctctccagatttacttttggggcctg       c.*2700

          .         .         .         .         .         .       g.402205
 ttctaagtgcaaacccagcaagtttcacttgtcctgtccattagatacaactacatcttg       c.*2760

          .         .         .         .         .         .       g.402265
 cgggggttgtttctttcttgttccacaatgaattgcacatccatctccatcagagctgat       c.*2820

          .         .         .         .         .         .       g.402325
 agcctgttaataagcactggtctaacacagccaaccctcctccacagcgccatattaatg       c.*2880

          .         .         .         .         .         .       g.402385
 gaggaggggaggaaggtgaaatctactgcatgggattcaggaaacagttgtggttggtca       c.*2940

          .         .         .         .         .         .       g.402445
 ggacggaagttggggtaagtttggttggtcagagggagttgtgctggagattgtgaaaaa       c.*3000

          .         .         .         .         .         .       g.402505
 tgggttcttgaatgatctactataaggcagggaaggttcatttgtaagtagtaatgtgaa       c.*3060

          .         .         .         .         .         .       g.402565
 ctgaattgcattaagagtgtgtggcctttgttgtgatatactatgtattttcttatatgc       c.*3120

          .         .         .         .         .         .       g.402625
 atgagccaaactgttgcatcataatttagcactgatgtctgcttttattttgatcatctt       c.*3180

          .         .         .         .         .         .       g.402685
 tgtccacccttattagttcttggctgttaaccgtagatagatcttgtaaatccagcaacc       c.*3240

          .         .         .         .         .         .       g.402745
 tttggttgctgcattccccttggttcgattccacgcaaggagccacaagtgagaactcca       c.*3300

          .         .         .         .         .         .       g.402805
 ctgtccttagaagaaagggcatttttacttttgaaccaaaaagagaaaaaaaaatcagaa       c.*3360

          .         .         .         .         .         .       g.402865
 gtgttgcatcttgaggcgaattaactgtaagacatttttaattatgactactgcaatttg       c.*3420

          .         .         .         .         .         .       g.402925
 acaccatttgaaataatcaattcagagacactaaagatttcacaatattcattggtattg       c.*3480

          .         .         .         .         .         .       g.402985
 taaaaaaaaaatactattgtatggatttttgtattgctgttaagtattgttttgtgtgtg       c.*3540

          .         .         .         .         .         .       g.403045
 tgtgtgtgtgtgtgtgttggaacctcctggggacatgttatattttgaagtgattaaact       c.*3600

          .         .         .         .         .         .       g.403105
 atttaattgtgtgtctatattttggagtggaataatttcttcattaaaaaatgtttttaa       c.*3660

          .         .         .         .         .         .       g.403165
 aaacactatatcttgggtggtttattcctttgtttcagtgaatctttcctaaagcaacgt       c.*3720

          .         .         .         .         .         .       g.403225
 ggagtcagtctgttgaaagaaggaaggcaggtacttgcagtttaaagcaggacccattga       c.*3780

          .         .         .         .         .         .       g.403285
 tggaatattgagccaccgaggcaaaatagctcaccttctcttgccttgggggatgcatgg       c.*3840

          .         .         .         .         .         .       g.403345
 tttttaccattctactgttttattagcatctgtgagcatctaatagaaatactattctgc       c.*3900

          .         .         .         .         .         .       g.403405
 tatttatggaaatccttattataattgatatggaagtgagtttgaaattctaacagctaa       c.*3960

          .         .         .         .         .         .       g.403465
 catatttcatgtttgtatcacacactgttcttaacactttatgtgacttcactcaattct       c.*4020

          .         .         .         .         .         .       g.403525
 ttgaatcctctgcatctagccatgtattctgcaaatattaagtgctcaatggtttttttg       c.*4080

          .         .         .                                     g.403555
 ttgaattactgaataaatgaattagtggtg                                     c.*4110

 (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 Dystrobrevin alpha 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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