Tropomyosin 2 (TPM2) - coding DNA reference sequence

(used for mutation description)

(last modified March 30, 2012)

This file was created to facilitate the description of sequence variants in the TPM2 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_011620.1, covering TPM2 transcript-1 (NM_003289.3). TPM2 encodes another transcript (variant-2 NM_213674.1) containing an alternative 6th exon (6a from intron 5, encoding 25 alternative amino acids) and an alternative 3'-terminal exon (9b from downstream of the gene, encoding 26 alternative C-terminal amino acids).

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

 (upstream sequence)
           .         .         .         .         .                g.5060
  gcggccgcaccccccggccgggccgtgcttctgcccctacaaggtttgggccgaggtgg       c.-181

 .         .         .         .         .         .                g.5120
 gggagggtcctggttgccggccccgcccggtccctccccgccttttaggcgcccgcgtgg       c.-121

 .         .         .         .         .         .                g.5180
 ccgggacgtcccagtcccgctccgtcctcctcgcctgccaccggtgcacccagtccgctc       c.-61

 .         .         .         .         .         .                g.5240
 acccagcccagtccgtccggtcctcaccgcctgccggccggcccaccccccaccgcagcc       c.-1

          .         .         .         .         .         .       g.5300
 ATGGACGCCATCAAGAAGAAGATGCAGATGCTGAAGCTGGACAAGGAGAACGCCATCGAC       c.60
 M  D  A  I  K  K  K  M  Q  M  L  K  L  D  K  E  N  A  I  D         p.20

          .         .         .         .         .     | 02   .    g.5792
 CGCGCCGAGCAGGCCGAAGCCGACAAGAAGCAAGCTGAGGACCGCTGCAAGCAG | CTGGAG    c.120
 R  A  E  Q  A  E  A  D  K  K  Q  A  E  D  R  C  K  Q   | L  E      p.40

          .         .         .         .         .         .       g.5852
 GAGGAGCAGCAGGCCCTCCAGAAGAAGCTGAAGGGGACAGAGGATGAGGTGGAAAAGTAT       c.180
 E  E  Q  Q  A  L  Q  K  K  L  K  G  T  E  D  E  V  E  K  Y         p.60

          .         .         .         .         .         .       g.5912
 TCTGAATCCGTGAAGGAGGCCCAGGAGAAACTGGAGCAGGCCGAGAAGAAGGCCACTGAT       c.240
 S  E  S  V  K  E  A  Q  E  K  L  E  Q  A  E  K  K  A  T  D         p.80

  | 03       .         .         .         .         .         .    g.9337
  | GCTGAGGCAGATGTGGCCTCCCTGAACCGCCGCATTCAGCTGGTTGAGGAGGAGCTGGAC    c.300
  | A  E  A  D  V  A  S  L  N  R  R  I  Q  L  V  E  E  E  L  D      p.100

          .         .         .         .         .         .       g.9397
 CGGGCCCAGGAGCGCCTGGCTACAGCCCTGCAGAAGCTGGAGGAGGCCGAGAAGGCGGCT       c.360
 R  A  Q  E  R  L  A  T  A  L  Q  K  L  E  E  A  E  K  A  A         p.120

          .     | 04   .         .         .         .         .    g.9552
 GATGAGAGCGAGAG | AGGAATGAAGGTCATCGAAAACCGGGCCATGAAGGATGAGGAGAAG    c.420
 D  E  S  E  R  |  G  M  K  V  I  E  N  R  A  M  K  D  E  E  K      p.140

          .         .         .         .         .         .       g.9612
 ATGGAACTGCAGGAGATGCAGCTGAAGGAGGCCAAGCACATCGCTGAGGATTCAGACCGC       c.480
 M  E  L  Q  E  M  Q  L  K  E  A  K  H  I  A  E  D  S  D  R         p.160

          .   | 05     .         .         .         .         .    g.9766
 AAATATGAAGAG | GTGGCCAGGAAGCTGGTGATCCTGGAAGGAGAGCTGGAGCGCTCGGAG    c.540
 K  Y  E  E   | V  A  R  K  L  V  I  L  E  G  E  L  E  R  S  E      p.180

          .         .    | 06    .         .         .         .    g.10287
 GAGAGGGCTGAGGTGGCCGAGAG | TAAATGTGGGGACCTAGAGGAGGAGCTGAAAATTGTT    c.600
 E  R  A  E  V  A  E  S  |  K  C  G  D  L  E  E  E  L  K  I  V      p.200
                         ^  intron contains alterntive 6th exon (6a)

          .         .         .          | 07        .         .    g.10528
 ACCAACAACTTGAAATCCCTGGAGGCCCAGGCGGACAAG | TATTCCACCAAAGAAGATAAA    c.660
 T  N  N  L  K  S  L  E  A  Q  A  D  K   | Y  S  T  K  E  D  K      p.220

          .         .         .         .   | 08     .         .    g.10760
 TATGAAGAGGAGATCAAACTGTTGGAGGAGAAGCTGAAGGAG | GCTGAGACCCGAGCAGAG    c.720
 Y  E  E  E  I  K  L  L  E  E  K  L  K  E   | A  E  T  R  A  E      p.240

          .         .         .         .         .   | 09     .    g.11824
 TTTGCCGAGAGGTCTGTGGCAAAGTTGGAGAAAACCATCGATGACCTAGAAG | ATGAAGTC    c.780
 F  A  E  R  S  V  A  K  L  E  K  T  I  D  D  L  E  D |   E  V      p.260
                                                      ^  alternative 3'terminal exon (9b) downstream of the gene

          .         .         .         .         .         .       g.11884
 TATGCCCAGAAGATGAAGTACAAGGCCATTAGCGAGGAACTGGACAACGCACTCAATGAC       c.840
 Y  A  Q  K  M  K  Y  K  A  I  S  E  E  L  D  N  A  L  N  D         p.280

          .                                                         g.11899
 ATCACCTCCCTCTGA                                                    c.855
 I  T  S  L  X                                                      p.284

          .         .         .         .         .         .       g.11959
 gccccacgccagcgtggccacctcagctctcttctctcctctcctttccattctctctat       c.*60

          .         .         .         .         .         .       g.12019
 ggggaggggagcaggcaggaggagcagaaattgccaacattgcacagccaggctgggagc       c.*120

          .         .         .         .         .         .       g.12079
 agcctagggagagcccccatcatgcccaccacccactctggcactggcttcatcctttac       c.*180

          .         .         .         .         .                 g.12132
 ctatccccttccaccctcctttgctgcttaataaattctgaacttggtctcca              c.*233

 (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 Tropomyosin 2 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.