myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3) - coding DNA reference sequence

(used for mutation description)

(last modified July 23, 2010)

This file was created to facilitate the description of sequence variants in the MYL3 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_007555.1, covering MYL3 transcript NM_000258.2.

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

 (upstream sequence)
                               .         .         .                g.5033
                            atccgggcaggataaaggcctgggtgaggcggc       c.-61

 .         .         .         .         .         .                g.5093
 tcacctaccctgctttctgcattcttctctccacatccctctctgtacttacagccccca       c.-1

          .         .         .         .         .         .       g.5153
 ATGGCCCCCAAAAAGCCAGAGCCCAAGAAGGATGATGCCAAGGCAGCCCCCAAGGCAGCT       c.60
 M  A  P  K  K  P  E  P  K  K  D  D  A  K  A  A  P  K  A  A         p.20

          .         .         .         .         .         .       g.5213
 CCAGCTCCCGCACCTCCCCCTGAGCCTGAGCGCCCTAAGGAGGTCGAGTTTGATGCTTCC       c.120
 P  A  P  A  P  P  P  E  P  E  R  P  K  E  V  E  F  D  A  S         p.40

           | 02        .         .        | 03.         .         . g.7681
 AAGATCAAG | ATTGAGTTCACACCTGAGCAGATTGAAG | AGTTCAAGGAAGCCTTCATGCTG c.180
 K  I  K   | I  E  F  T  P  E  Q  I  E  E |   F  K  E  A  F  M  L   p.60

          .         .         .         .         .         .       g.7741
 TTCGACCGCACACCCAAGTGTGAGATGAAGATCACCTACGGGCAGTGTGGGGATGTCCTG       c.240
 F  D  R  T  P  K  C  E  M  K  I  T  Y  G  Q  C  G  D  V  L         p.80

          .         .         .         .         .         .       g.7801
 CGGGCGCTGGGCCAGAACCCCACACAGGCAGAAGTGCTCCGTGTCCTGGGGAAGCCAAGA       c.300
 R  A  L  G  Q  N  P  T  Q  A  E  V  L  R  V  L  G  K  P  R         p.100

         | 04.         .         .         .         .         .    g.8888
 CAGGAAG | AGCTCAATACCAAGATGATGGACTTTGAAACTTTCCTGCCTATGCTCCAGCAC    c.360
 Q  E  E |   L  N  T  K  M  M  D  F  E  T  F  L  P  M  L  Q  H      p.120

          .         .         .         .         .         .       g.8948
 ATTTCCAAGAACAAGGACACAGGCACCTATGAGGACTTCGTGGAGGGGCTGCGGGTCTTC       c.420
 I  S  K  N  K  D  T  G  T  Y  E  D  F  V  E  G  L  R  V  F         p.140

          .         .         .         .         .         .       g.9008
 GACAAGGAGGGCAATGGCACTGTCATGGGTGCTGAGCTTCGCCACGTGCTGGCCACGCTG       c.480
 D  K  E  G  N  G  T  V  M  G  A  E  L  R  H  V  L  A  T  L         p.160

   | 05      .         .         .         .         .         .    g.10081
 G | GTGAGAGGCTGACAGAAGACGAAGTGGAGAAGTTGATGGCTGGGCAAGAGGACTCCAAT    c.540
 G |   E  R  L  T  E  D  E  V  E  K  L  M  A  G  Q  E  D  S  N      p.180

          .          | 06        .         .                        g.10252
 GGCTGCATCAACTATGAAG | CATTTGTGAAGCACATCATGTCCAGCTAA                c.588
 G  C  I  N  Y  E  A |   F  V  K  H  I  M  S  S  X                  p.195

          .    | 07    .         .         .         .         .    g.10441
 acctcgtgcccag | gaagcccagggaaggctgtgcagggacgtctcatctcccatgtgtga    c.*60

          .         .         .         .         .         .       g.10501
 tgctgacaccagcggcctggagtcgtgggaaggaggggagccttaccaagactcctgcaa       c.*120

          .         .         .         .         .         .       g.10561
 aaacccttggacctctccacgtggttgccgtctctggcccctctcaggctgtgcttacct       c.*180

          .         .         .         .         .         .       g.10621
 gtgacagcagctctgtccccaccccatgggcctcatgaataaatggcttcttgccggcct       c.*240

                                                                    g.10629
 tcctttct                                                           c.*248

 (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 Myosin, light chain 3, alkali; ventricular, skeletal, slow 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.