Troponin T type 3 (TNNT3) - coding DNA reference sequence

(used for mutation description)

(last modified January 7, 2011)

This file was created to facilitate the description of sequence variants in the TNNT3 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_013085.1, covering TNNT3 transcript variant-1 (NM_006757.3). Transcript variant-2 (NM_001042781.2) contains two alternatively spliced exons from intron 05 (exons 05b and 05c), replacing exons 6 and 7. Exon 7 is alternatively spliced and missing in transcript isoform-4 (NM_001042782.2). Exon 15 is alternatively spliced and replaced by exon 15b (located in intron 16) in transcript isoform-3 (NM_001042780.2).

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

 (upstream sequence)
                               .         .         .                g.5032
                             acttggtaaggggcctgcacgggcatagcccc       c.-181

 .         .         .         .         .         .                g.5092
 ccccagcaagactccgcacacaccccggccacccagtcactggccaatgggctcctagga       c.-121

 .         .         .         .         .         .                g.5152
 agatcaaatgtcactataacacgagggtgtgagccgggcgccagtgcctgcagccggtgc       c.-61

 .         .         .         .         .  | 02      .             g.8306
 tgtccacagggagctccagcccttctcacactcgacccgcag | aaaccacccaccttcacc    c.-1

          .        | 03.         .  | 04      .          | 05        . g.10541
 ATGTCTGACGAGGAAGT | TGAACAGGTGGAGG | AGCAGTACGAAGAAGAAG | AGGAAGCCCAG c.60
 M  S  D  E  E  V  |  E  Q  V  E  E |   Q  Y  E  E  E  E |   E  A  Q   p.20

         | 06.         .   | 07     .         .       | 08 .         . g.15255
 GAGGAAG | AGGAAGTTCAAGAAG | ACACCGCAGAGGAGGACGCGGAAG | AGGAGAAACCGAGA c.120
 E  E  E |   E  V  Q  E  D |   T  A  E  E  D  A  E  E |   E  K  P  R   p.40
         ^           alternatively spliced            ^
         ^  contains 2 alternative exons (replacing exons 06 and 07)

       | 09  .         .         .         .         .  | 10      . g.19161
 CCCAA | ACTCACTGCTCCTAAGATCCCAGAAGGGGAGAAAGTGGACTTCGAT | GACATCCAG c.180
 P  K  |  L  T  A  P  K  I  P  E  G  E  K  V  D  F  D   | D  I  Q   p.60

          .         .         .         .         .         .       g.19221
 AAGAAGCGTCAGAACAAAGACCTAATGGAGCTCCAGGCCCTCATCGACAGCCACTTTGAA       c.240
 K  K  R  Q  N  K  D  L  M  E  L  Q  A  L  I  D  S  H  F  E         p.80

          .         .         .         .         | 11         .    g.19374
 GCCCGGAAGAAGGAGGAGGAGGAGCTGGTCGCTCTCAAAGAGAGAATC | GAGAAGCGCCGT    c.300
 A  R  K  K  E  E  E  E  L  V  A  L  K  E  R  I   | E  K  R  R      p.100

          .         .         .         .         .         .       g.19434
 GCAGAGAGAGCGGAGCAGCAGAGGATTCGTGCAGAGAAGGAGAGGGAGCGCCAGAACAGA       c.360
 A  E  R  A  E  Q  Q  R  I  R  A  E  K  E  R  E  R  Q  N  R         p.120

        | 12 .         .         .         .         .         .    g.19817
 CTGGCG | GAGGAAAAGGCCAGAAGGGAGGAGGAGGATGCCAAGAGGAGGGCAGAGGACGAC    c.420
 L  A   | E  E  K  A  R  R  E  E  E  D  A  K  R  R  A  E  D  D      p.140

          .         .         .         .         .         .       g.19877
 CTGAAGAAGAAGAAAGCTCTGTCTTCCATGGGAGCCAACTACAGCAGCTACCTGGCCAAG       c.480
 L  K  K  K  K  A  L  S  S  M  G  A  N  Y  S  S  Y  L  A  K         p.160

  | 13       .         .         .         .         .         .    g.20037
  | GCTGACCAGAAGAGAGGCAAGAAGCAGACAGCCCGGGAAATGAAGAAGAAGATTCTGGCT    c.540
  | A  D  Q  K  R  G  K  K  Q  T  A  R  E  M  K  K  K  I  L  A      p.180

          .         .         .         .         . | 14       .    g.20270
 GAGAGACGCAAGCCGCTCAACATCGATCACCTTGGTGAAGACAAACTGAG | GGACAAGGCC    c.600
 E  R  R  K  P  L  N  I  D  H  L  G  E  D  K  L  R  |  D  K  A      p.200

          .         .         .         .         .         .       g.20330
 AAGGAGCTCTGGGAGACCCTGCACCAGCTGGAGATTGACAAGTTCGAGTTTGGGGAGAAG       c.660
 K  E  L  W  E  T  L  H  Q  L  E  I  D  K  F  E  F  G  E  K         p.220

          .         .  | 15      .         .         .         .    g.22433
 CTGAAACGCCAGAAATATGAC | ATCACCACGCTCAGGAGCCGCATTGACCAGGCCCAGAAG    c.720
 L  K  R  Q  K  Y  D   | I  T  T  L  R  S  R  I  D  Q  A  Q  K      p.240
                       ^  alternatively spliced (replaced by exon 15b)

    | 16     .         .         .         .         .              g.23927
 CA | CAGCAAGAAGGCTGGGACCCCAGCCAAGGGCAAAGTCGGCGGGCGCTGGAAGTAG       c.777
 H  |  S  K  K  A  G  T  P  A  K  G  K  V  G  G  R  W  K  X         p.258
    ^  contains exon 15b

          .         .         .         .         .         .       g.23987
 agaggccagaaaggcccctcgaggcagagaccctccgccctcttgcacaccagggccgct       c.*60

          .         .         .         .         .         .       g.24047
 cgtgggactccacatcctccagcccccacaatcctgtcaggggctccctgacagtcctgg       c.*120

          .         .         .         .         .         .       g.24107
 gggtggagaggccatcccggggcgtcccccgcgtctgtgtccttgctgccttcatcccct       c.*180

          .         .         .                                     g.24141
 ggggcctgtgaataaagctgcagaacccccttca                                 c.*214

 (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 Troponin T type 3 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.