troponin T type 2 (cardiac) (TNNT2) - coding DNA reference sequence

(used for mutation description)

(last modified June 25, 2013)

This file was created to facilitate the description of sequence variants in the TNNT2 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_007556.1, covering TNNT2 transcript variant-2 (NM_001001430.1). TNNT2 transcript variant-1 (NM_000364.2) contains exon 4b but lacks exon 12. Transcript variant 3 (NM_001001431.1) lacks exon 12, transcript variant 4 (NM_001001432.1) lacks exon 4 and the first 3 nucleotides of exon 12.

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

 (upstream sequence)
                                                                    g.5009
                                                    ccccgctga       c.-61

 .         .         .         .         .      | 02  .             g.9423
 gactgagcagacgcctccaggatctgtcggcagctgctgttctgag | ggagagcagagacc    c.-1

          .         .         .         .  | 03      .   | 04     . g.10644
 ATGTCTGACATAGAAGAGGTGGTGGAAGAGTACGAGGAGGA | GGAGCAGGAAG | AAGCAGCT c.60
 M  S  D  I  E  E  V  V  E  E  Y  E  E  E  |  E  Q  E  E |   A  A   p.20

         | 05.         .         .         .         .         .    g.14503
 GTTGAAG | AGCAGGAGGAGGCAGCGGAAGAGGATGCTGAAGCAGAGGCTGAGACCGAGGAG    c.120
 V  E  E |   Q  E  E  A  A  E  E  D  A  E  A  E  A  E  T  E  E      p.40
         ^ differentially spliced exon 4b

          .    | 06    .         .         .          | 07        . g.15817
 ACCAGGGCAGAAG | AAGATGAAGAAGAAGAGGAAGCAAAGGAGGCTGAAG | ATGGCCCAATG c.180
 T  R  A  E  E |   D  E  E  E  E  E  A  K  E  A  E  D |   G  P  M   p.60

          .         .    | 08    .         .         .         .    g.17044
 GAGGAGTCCAAACCAAAGCCCAG | GTCGTTCATGCCCAACTTGGTGCCTCCCAAGATCCCC    c.240
 E  E  S  K  P  K  P  R  |  S  F  M  P  N  L  V  P  P  K  I  P      p.80

          .         .     | 09   .         .         .         .    g.17406
 GATGGAGAGAGAGTGGACTTTGAT | GACATCCACCGGAAGCGCATGGAGAAGGACCTGAAT    c.300
 D  G  E  R  V  D  F  D   | D  I  H  R  K  R  M  E  K  D  L  N      p.100

          .         .         .         .         .         .       g.17466
 GAGTTGCAGGCGCTGATCGAGGCTCACTTTGAGAACAGGAAGAAAGAGGAGGAGGAGCTC       c.360
 E  L  Q  A  L  I  E  A  H  F  E  N  R  K  K  E  E  E  E  L         p.120

          .         .  | 10      .         .         .         .    g.18341
 GTTTCTCTCAAAGACAGGATC | GAGAGACGTCGGGCAGAGCGGGCCGAGCAGCAGCGCATC    c.420
 V  S  L  K  D  R  I   | E  R  R  R  A  E  R  A  E  Q  Q  R  I      p.140

          .         .         .          | 11        .         .    g.19292
 CGGAATGAGCGGGAGAAGGAGCGGCAGAACCGCCTGGCT | GAAGAGAGGGCTCGACGAGAG    c.480
 R  N  E  R  E  K  E  R  Q  N  R  L  A   | E  E  R  A  R  R  E      p.160

          .         .         .         .         .         .       g.19352
 GAGGAGGAGAACAGGAGGAAGGCTGAGGATGAGGCCCGGAAGAAGAAGGCTTTGTCCAAC       c.540
 E  E  E  N  R  R  K  A  E  D  E  A  R  K  K  K  A  L  S  N         p.180

          .         .         . | 12  /        | 13        .         . g.20676
 ATGATGCATTTTGGGGGTTACATCCAGAAG | CAG / GCCCAG | ACAGAGCGGAAAAGTGGGAAG c.600
 M  M  H  F  G  G  Y  I  Q  K   | Q   / A  Q   | T  E  R  K  S  G  K   p.200
                                ^     ^ differentially spliced exon
          .         .         .         .         .         .       g.20736
 AGGCAGACTGAGCGGGAAAAGAAGAAGAAGATTCTGGCTGAGAGGAGGAAGGTGCTGGCC       c.660
 R  Q  T  E  R  E  K  K  K  K  I  L  A  E  R  R  K  V  L  A         p.220

          .         .          | 14        .         .         .    g.21339
 ATTGACCACCTGAATGAAGATCAGCTGAG | GGAGAAGGCCAAGGAGCTGTGGCAGAGCATC    c.720
 I  D  H  L  N  E  D  Q  L  R  |  E  K  A  K  E  L  W  Q  S  I      p.240

          .         .         .         .         .         .       g.21399
 TATAACTTGGAGGCAGAGAAGTTCGACCTGCAGGAGAAGTTCAAGCAGCAGAAATATGAG       c.780
 Y  N  L  E  A  E  K  F  D  L  Q  E  K  F  K  Q  Q  K  Y  E         p.260

  | 15       .         .         .         .  | 16      .         . g.23441
  | ATCAATGTTCTCCGAAACAGGATCAACGATAACCAGAAAGT | CTCCAAGACCCGCGGGAAG c.840
  | I  N  V  L  R  N  R  I  N  D  N  Q  K  V  |  S  K  T  R  G  K   p.280

          .         .                                               g.23468
 GCTAAAGTCACCGGGCGCTGGAAATAG                                        c.867
 A  K  V  T  G  R  W  K  X                                          p.288

          .         .         .         .         .         .       g.23528
 agcctggcctccttcaccaaagatctgctcctcgctcgcacctgcctccggcctgcactc       c.*60

          .         .         .         .         .         .       g.23588
 ccccagttcccgggccctcctgggcaccccaggcagctcctgtttggaaatggggagctg       c.*120

          .         .         .         .         .         .       g.23648
 gcctaggtgggagccaccactcctgcctgcccccacacccactccacaccagtaataaaa       c.*180

          .                                                         g.23664
 agccaccacacactga                                                   c.*196

 (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 2 (cardiac) 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.