myogenic differentiation 1 (MYOD1) - coding DNA reference sequence

(used for variant description)

(last modified January 9, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_002478.4 in the MYOD1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000011.9, covering MYOD1 transcript NM_002478.4.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                     .         .         .         .                g.5040
                     gagaagctaggggtgaggaagccctggggcgctgccgccg       c.-181

 .         .         .         .         .         .                g.5100
 ctttccttaaccacaaatcaggccggacaggagagggaggggtgggggacagtgggtggg       c.-121

 .         .         .         .         .         .                g.5160
 cattcagactgccagcactttgctatctacagccggggctcccgagcggcagaaagttcc       c.-61

 .         .         .         .         .         .                g.5220
 ggccactctctgccgcttgggttgggcgaagccaggaccgtgccgcgccaccgccaggat       c.-1

          .         .         .         .         .         .       g.5280
 ATGGAGCTACTGTCGCCACCGCTCCGCGACGTAGACCTGACGGCCCCCGACGGCTCTCTC       c.60
 M  E  L  L  S  P  P  L  R  D  V  D  L  T  A  P  D  G  S  L         p.20

          .         .         .         .         .         .       g.5340
 TGCTCCTTTGCCACAACGGACGACTTCTATGACGACCCGTGTTTCGACTCCCCGGACCTG       c.120
 C  S  F  A  T  T  D  D  F  Y  D  D  P  C  F  D  S  P  D  L         p.40

          .         .         .         .         .         .       g.5400
 CGCTTCTTCGAAGACCTGGACCCGCGCCTGATGCACGTGGGCGCGCTCCTGAAACCCGAA       c.180
 R  F  F  E  D  L  D  P  R  L  M  H  V  G  A  L  L  K  P  E         p.60

          .         .         .         .         .         .       g.5460
 GAGCACTCGCACTTCCCCGCGGCGGTGCACCCGGCCCCGGGCGCACGTGAGGACGAGCAT       c.240
 E  H  S  H  F  P  A  A  V  H  P  A  P  G  A  R  E  D  E  H         p.80

          .         .         .         .         .         .       g.5520
 GTGCGCGCGCCCAGCGGGCACCACCAGGCGGGCCGCTGCCTACTGTGGGCCTGCAAGGCG       c.300
 V  R  A  P  S  G  H  H  Q  A  G  R  C  L  L  W  A  C  K  A         p.100

          .         .         .         .         .         .       g.5580
 TGCAAGCGCAAGACCACCAACGCCGACCGCCGCAAGGCCGCCACCATGCGCGAGCGGCGC       c.360
 C  K  R  K  T  T  N  A  D  R  R  K  A  A  T  M  R  E  R  R         p.120

          .         .         .         .         .         .       g.5640
 CGCCTGAGCAAAGTAAATGAGGCCTTTGAGACACTCAAGCGCTGCACGTCGAGCAATCCA       c.420
 R  L  S  K  V  N  E  A  F  E  T  L  K  R  C  T  S  S  N  P         p.140

          .         .         .         .         .         .       g.5700
 AACCAGCGGTTGCCCAAGGTGGAGATCCTGCGCAACGCCATCCGCTATATCGAGGGCCTG       c.480
 N  Q  R  L  P  K  V  E  I  L  R  N  A  I  R  Y  I  E  G  L         p.160

          .         .         .         .         .         .       g.5760
 CAGGCTCTGCTGCGCGACCAGGACGCCGCGCCCCCTGGCGCCGCAGCCGCCTTCTATGCG       c.540
 Q  A  L  L  R  D  Q  D  A  A  P  P  G  A  A  A  A  F  Y  A         p.180

          .         .         .         .         .         .       g.5820
 CCGGGCCCGCTGCCCCCGGGCCGCGGCGGCGAGCACTACAGCGGCGACTCCGACGCGTCC       c.600
 P  G  P  L  P  P  G  R  G  G  E  H  Y  S  G  D  S  D  A  S         p.200

          .         .         . | 02       .         .         .    g.6369
 AGCCCGCGCTCCAACTGCTCCGACGGCATG | ATGGACTACAGCGGCCCCCCGAGCGGCGCC    c.660
 S  P  R  S  N  C  S  D  G  M   | M  D  Y  S  G  P  P  S  G  A      p.220

          .         .         .         .          | 03        .    g.6703
 CGGCGGCGGAACTGCTACGAAGGCGCCTACTACAACGAGGCGCCCAGCG | AACCCAGGCCC    c.720
 R  R  R  N  C  Y  E  G  A  Y  Y  N  E  A  P  S  E |   P  R  P      p.240

          .         .         .         .         .         .       g.6763
 GGGAAGAGTGCGGCGGTGTCGAGCCTAGACTGCCTGTCCAGCATCGTGGAGCGCATCTCC       c.780
 G  K  S  A  A  V  S  S  L  D  C  L  S  S  I  V  E  R  I  S         p.260

          .         .         .         .         .         .       g.6823
 ACCGAGAGCCCTGCGGCGCCCGCCCTCCTGCTGGCGGACGTGCCTTCTGAGTCGCCTCCG       c.840
 T  E  S  P  A  A  P  A  L  L  L  A  D  V  P  S  E  S  P  P         p.280

          .         .         .         .         .         .       g.6883
 CGCAGGCAAGAGGCTGCCGCCCCCAGCGAGGGAGAGAGCAGCGGCGACCCCACCCAGTCA       c.900
 R  R  Q  E  A  A  A  P  S  E  G  E  S  S  G  D  P  T  Q  S         p.300

          .         .         .         .         .         .       g.6943
 CCGGACGCCGCCCCGCAGTGCCCTGCGGGTGCGAACCCCAACCCGATATACCAGGTGCTC       c.960
 P  D  A  A  P  Q  C  P  A  G  A  N  P  N  P  I  Y  Q  V  L         p.320

                                                                    g.6946
 TGA                                                                c.963
 X                                                                  p.320

          .         .         .         .         .         .       g.7006
 ggggatggtggccgcccacccgcccgagggatggtgcccctagggtccctcgcgcccaaa       c.*60

          .         .         .         .         .         .       g.7066
 agattgaacttaaatgcccccctcccaacagcgctttaaaagcgacctctcttgaggtag       c.*120

          .         .         .         .         .         .       g.7126
 gagaggcgggagaactgaagtttccgcccccgccccacagggcaaggacacagcgcggtt       c.*180

          .         .         .         .         .         .       g.7186
 ttttccacgcagcacccttctcggagacccattgcgatggccgctccgtgttcctcggtg       c.*240

          .         .         .         .         .         .       g.7246
 ggccagagctgaaccttgaggggctaggttcagctttctcgcgccctcccccatgggggt       c.*300

          .         .         .         .         .         .       g.7306
 gagaccctcgcagacctaagccctgccccgggatgcaccggttatttgggggggcgtgag       c.*360

          .         .         .         .         .         .       g.7366
 acccagtgcactccggtcccaaatgtagcaggtgtaaccgtaacccacccccaacccgtt       c.*420

          .         .         .         .         .         .       g.7426
 tcccggttcaggaccactttttgtaatacttttgtaatctattcctgtaaataagagttg       c.*480

          .         .         .         .         .         .       g.7486
 ctttgccagagcaggagcccctggggctgtatttatctctgaggcatggtgtgtggtgct       c.*540

          .         .         .         .         .         .       g.7546
 acagggaatttgtacgtttataccgcaggcgggcgagccgcgggcgctcgctcaggtgat       c.*600

          .         .                                               g.7569
 caaaataaaggcgctaatttata                                            c.*623

 (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 10^th nucleotide is indicated by a "." above the sequence. The Myogenic differentiation 1 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th 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 variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.