Myostatin (MSTN) - coding DNA reference sequence

(used for mutation description)

(last modified May 28, 2010)


This file was created to facilitate the description of sequence variants in the MSTN gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009800.1, covering MSTN transcript NM_005259.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5013
                                                agattcactggtg       c.-121

 .         .         .         .         .         .                g.5073
 tggcaagttgtctctcagactgtacatgcattaaaattttgcttggcattactcaaaagc       c.-61

 .         .         .         .         .         .                g.5133
 aaaagaaaagtaaaaggaagaaacaagaacaagaaaaaagattatattgattttaaaatc       c.-1

          .         .         .         .         .         .       g.5193
 ATGCAAAAACTGCAACTCTGTGTTTATATTTACCTGTTTATGCTGATTGTTGCTGGTCCA       c.60
 M  Q  K  L  Q  L  C  V  Y  I  Y  L  F  M  L  I  V  A  G  P         p.20

          .         .         .         .         .         .       g.5253
 GTGGATCTAAATGAGAACAGTGAGCAAAAAGAAAATGTGGAAAAAGAGGGGCTGTGTAAT       c.120
 V  D  L  N  E  N  S  E  Q  K  E  N  V  E  K  E  G  L  C  N         p.40

          .         .         .         .         .         .       g.5313
 GCATGTACTTGGAGACAAAACACTAAATCTTCAAGAATAGAAGCCATTAAGATACAAATC       c.180
 A  C  T  W  R  Q  N  T  K  S  S  R  I  E  A  I  K  I  Q  I         p.60

          .         .         .         .         .         .       g.5373
 CTCAGTAAACTTCGTCTGGAAACAGCTCCTAACATCAGCAAAGATGTTATAAGACAACTT       c.240
 L  S  K  L  R  L  E  T  A  P  N  I  S  K  D  V  I  R  Q  L         p.80

          .         .         .         .         .         .       g.5433
 TTACCCAAAGCTCCTCCACTCCGGGAACTGATTGATCAGTATGATGTCCAGAGGGATGAC       c.300
 L  P  K  A  P  P  L  R  E  L  I  D  Q  Y  D  V  Q  R  D  D         p.100

          .         .         .         .         .         .       g.5493
 AGCAGCGATGGCTCTTTGGAAGATGACGATTATCACGCTACAACGGAAACAATCATTACC       c.360
 S  S  D  G  S  L  E  D  D  D  Y  H  A  T  T  E  T  I  I  T         p.120

          .    | 02    .         .         .         .         .    g.7341
 ATGCCTACAGAGT | CTGATTTTCTAATGCAAGTGGATGGAAAACCCAAATGTTGCTTCTTT    c.420
 M  P  T  E  S |   D  F  L  M  Q  V  D  G  K  P  K  C  C  F  F      p.140

          .         .         .         .         .         .       g.7401
 AAATTTAGCTCTAAAATACAATACAATAAAGTAGTAAAGGCCCAACTATGGATATATTTG       c.480
 K  F  S  S  K  I  Q  Y  N  K  V  V  K  A  Q  L  W  I  Y  L         p.160

          .         .         .         .         .         .       g.7461
 AGACCCGTCGAGACTCCTACAACAGTGTTTGTGCAAATCCTGAGACTCATCAAACCTATG       c.540
 R  P  V  E  T  P  T  T  V  F  V  Q  I  L  R  L  I  K  P  M         p.180

          .         .         .         .         .         .       g.7521
 AAAGACGGTACAAGGTATACTGGAATCCGATCTCTGAAACTTGACATGAACCCAGGCACT       c.600
 K  D  G  T  R  Y  T  G  I  R  S  L  K  L  D  M  N  P  G  T         p.200

          .         .         .         .         .         .       g.7581
 GGTATTTGGCAGAGCATTGATGTGAAGACAGTGTTGCAAAATTGGCTCAAACAACCTGAA       c.660
 G  I  W  Q  S  I  D  V  K  T  V  L  Q  N  W  L  K  Q  P  E         p.220

          .         .         .         .         .         .       g.7641
 TCCAACTTAGGCATTGAAATAAAAGCTTTAGATGAGAATGGTCATGATCTTGCTGTAACC       c.720
 S  N  L  G  I  E  I  K  A  L  D  E  N  G  H  D  L  A  V  T         p.240

          .         .        | 03.         .         .         .    g.10124
 TTCCCAGGACCAGGAGAAGATGGGCTG | AATCCGTTTTTAGAGGTCAAGGTAACAGACACA    c.780
 F  P  G  P  G  E  D  G  L   | N  P  F  L  E  V  K  V  T  D  T      p.260

          .         .         .         .         .         .       g.10184
 CCAAAAAGATCCAGAAGGGATTTTGGTCTTGACTGTGATGAGCACTCAACAGAATCACGA       c.840
 P  K  R  S  R  R  D  F  G  L  D  C  D  E  H  S  T  E  S  R         p.280

          .         .         .         .         .         .       g.10244
 TGCTGTCGTTACCCTCTAACTGTGGATTTTGAAGCTTTTGGATGGGATTGGATTATCGCT       c.900
 C  C  R  Y  P  L  T  V  D  F  E  A  F  G  W  D  W  I  I  A         p.300

          .         .         .         .         .         .       g.10304
 CCTAAAAGATATAAGGCCAATTACTGCTCTGGAGAGTGTGAATTTGTATTTTTACAAAAA       c.960
 P  K  R  Y  K  A  N  Y  C  S  G  E  C  E  F  V  F  L  Q  K         p.320

          .         .         .         .         .         .       g.10364
 TATCCTCATACTCATCTGGTACACCAAGCAAACCCCAGAGGTTCAGCAGGCCCTTGCTGT       c.1020
 Y  P  H  T  H  L  V  H  Q  A  N  P  R  G  S  A  G  P  C  C         p.340

          .         .         .         .         .         .       g.10424
 ACTCCCACAAAGATGTCTCCAATTAATATGCTATATTTTAATGGCAAAGAACAAATAATA       c.1080
 T  P  T  K  M  S  P  I  N  M  L  Y  F  N  G  K  E  Q  I  I         p.360

          .         .         .         .                           g.10472
 TATGGGAAAATTCCAGCGATGGTAGTAGACCGCTGTGGGTGCTCATGA                   c.1128
 Y  G  K  I  P  A  M  V  V  D  R  C  G  C  S  X                     p.375

          .         .         .         .         .         .       g.10532
 gatttatattaagcgttcataacttcctaaaacatggaaggttttcccctcaacaatttt       c.*60

          .         .         .         .         .         .       g.10592
 gaagctgtgaaattaagtaccacaggctataggcctagagtatgctacagtcacttaagc       c.*120

          .         .         .         .         .         .       g.10652
 ataagctacagtatgtaaactaaaagggggaatatatgcaatggttggcatttaaccatc       c.*180

          .         .         .         .         .         .       g.10712
 caaacaaatcatacaagaaagttttatgatttccagagtttttgagctagaaggagatca       c.*240

          .         .         .         .         .         .       g.10772
 aattacatttatgttcctatatattacaacatcggcgaggaaatgaaagcgattctcctt       c.*300

          .         .         .         .         .         .       g.10832
 gagttctgatgaattaaaggagtatgctttaaagtctatttctttaaagttttgtttaat       c.*360

          .         .         .         .         .         .       g.10892
 atttacagaaaaatccacatacagtattggtaaaatgcaggattgttatataccatcatt       c.*420

          .         .         .         .         .         .       g.10952
 cgaatcatccttaaacacttgaatttatattgtatggtagtatacttggtaagataaaat       c.*480

          .         .         .         .         .         .       g.11012
 tccacaaaaatagggatggtgcagcatatgcaatttccattcctattataattgacacag       c.*540

          .         .         .         .         .         .       g.11072
 tacattaacaatccatgccaacggtgctaatacgataggctgaatgtctgaggctaccag       c.*600

          .         .         .         .         .         .       g.11132
 gtttatcacataaaaaacattcagtaaaatagtaagtttctcttttcttcaggtgcattt       c.*660

          .         .         .         .         .         .       g.11192
 tcctacacctccaaatgaggaatggattttctttaatgtaagaagaatcatttttctaga       c.*720

          .         .         .         .         .         .       g.11252
 ggttggctttcaattctgtagcatacttggagaaactgcattatcttaaaaggcagtcaa       c.*780

          .         .         .         .         .         .       g.11312
 atggtgtttgtttttatcaaaatgtcaaaataacatacttggagaagtatgtaattttgt       c.*840

          .         .         .         .         .         .       g.11372
 ctttggaaaattacaacactgcctttgcaacactgcagtttttatggtaaaataatagaa       c.*900

          .         .         .         .         .         .       g.11432
 atgatcgactctatcaatattgtataaaaagactgaaacaatgcatttatataatatgta       c.*960

          .         .         .         .         .         .       g.11492
 tacaatattgttttgtaaataagtgtctccttttttatttactttggtatatttttacac       c.*1020

          .         .         .         .         .         .       g.11552
 taaggacatttcaaattaagtactaaggcacaaagacatgtcatgcatcacagaaaagca       c.*1080

          .         .         .         .         .         .       g.11612
 actacttatatttcagagcaaattagcagattaaatagtggtcttaaaactccatatgtt       c.*1140

          .         .         .         .         .         .       g.11672
 aatgattagatggttatattacaatcattttatatttttttacatgattaacattcactt       c.*1200

          .         .         .         .         .         .       g.11732
 atggattcatgatggctgtataaagtgaatttgaaatttcaatggtttactgtcattgtg       c.*1260

          .         .         .         .         .         .       g.11792
 tttaaatctcaacgttccattattttaatacttgcaaaaacattactaagtataccaaaa       c.*1320

          .         .         .         .         .         .       g.11852
 taattgactctattatctgaaatgaagaataaactgatgctatctcaacaataactgtta       c.*1380

          .         .         .         .         .         .       g.11912
 cttttattttataatttgataatgaatatatttctgcatttatttacttctgttttgtaa       c.*1440

          .         .         .         .         .         .       g.11972
 attgggattttgttaatcaaatttattgtactatgactaaatgaaattatttcttacatc       c.*1500

          .         .         .         .         .                 g.12030
 taatttgtagaaacagtataagttatattaaagtgttttcacatttttttgaaagaca         c.*1558

 (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 Myostatin 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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