Troponin T type 1 (TNNT1) - coding DNA reference sequence

(used for mutation description)

(last modified March 2, 2012)

This file was created to facilitate the description of sequence variants in the TNNT1 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_011829.2, covering TNNT1 transcript variant-1 (NM_003283.4). Exon 5 is alternatively spliced and missing in transcript isoform c (NM_001126133.1). Similarly, exon 12 is alternatively spliced using an internal splice site in transcript isoforms b (NM_001126132.1) and c (NM_001126133.1).

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

 (upstream sequence)
                                         .         .                g.5029
                                agctataaactccccggagcttcagtgcc       c.-61

 .         .         .         .         .         | 02             g.7081
 ctcagcaaggctcagcctcaagattcacagcatctcagacacagcctag | gccgcaccagg    c.-1

          .         .         .   | 03     .       | 04 .         . g.7545
 ATGTCGGACACCGAGGAGCAGGAATATGAGGA | GGAGCAGCCGGAAG | AGGAGGCTGCGGAG c.60
 M  S  D  T  E  E  Q  E  Y  E  E  |  E  Q  P  E  E |   E  A  A  E   p.20

          .    | 05    .         .         .       | 06 .         . g.8687
 GAGGAGGAGGAAG | CCCCCGAAGAGCCGGAGCCGGTGGCAGAGCCAG | AAGAGGAACGCCCC c.120
 E  E  E  E  A |   P  E  E  P  E  P  V  A  E  P  E |   E  E  R  P   p.40
               ^ alternatively spliced exon

          | 07         .         .         .         .         .    g.12370
 AAACCAAG | CCGCCCCGTGGTGCCTCCTTTGATCCCGCCAAAGATCCCAGAAGGGGAGCGC    c.180
 K  P  S  |  R  P  V  V  P  P  L  I  P  P  K  I  P  E  G  E  R      p.60

          .   | 08     .         .         .         .         .    g.12984
 GTTGACTTCGAT | GACATCCACCGCAAGCGCATGGAGAAAGACCTGCTGGAGCTGCAGACA    c.240
 V  D  F  D   | D  I  H  R  K  R  M  E  K  D  L  L  E  L  Q  T      p.80

          .         .         .         .         .         .       g.13044
 CTCATCGATGTACATTTCGAGCAGCGGAAGAAGGAGGAAGAGGAGCTGGTTGCCTTGAAG       c.300
 L  I  D  V  H  F  E  Q  R  K  K  E  E  E  E  L  V  A  L  K         p.100

           | 09        .         .         .         .         .    g.13329
 GAGCGCATT | GAGCGGCGCCGGTCAGAGAGAGCCGAGCAACAGCGCTTCAGAACTGAGAAG    c.360
 E  R  I   | E  R  R  R  S  E  R  A  E  Q  Q  R  F  R  T  E  K      p.120

          .         .        | 10.         .         .         .    g.16197
 GAACGCGAACGTCAGGCTAAGCTGGCG | GAGGAGAAGATGAGGAAGGAAGAGGAAGAGGCC    c.420
 E  R  E  R  Q  A  K  L  A   | E  E  K  M  R  K  E  E  E  E  A      p.140

          .         .         .         .         .         .       g.16257
 AAGAAGCGGGCAGAGGATGATGCCAAGAAAAAGAAGGTGCTGTCCAACATGGGGGCCCAT       c.480
 K  K  R  A  E  D  D  A  K  K  K  K  V  L  S  N  M  G  A  H         p.160

          .         .  | 11      .         .         .         .    g.17065
 TTTGGCGGCTACCTGGTCAAG | GCAGAACAGAAGCGTGGTAAGCGGCAGACGGGGCGGGAG    c.540
 F  G  G  Y  L  V  K   | A  E  Q  K  R  G  K  R  Q  T  G  R  E      p.180

          .         .         .         .         .         .       g.17125
 ATGAAGGTGCGCATCCTCTCCGAGCGTAAGAAGCCTCTGGACATTGACTACATGGGGGAG       c.600
 M  K  V  R  I  L  S  E  R  K  K  P  L  D  I  D  Y  M  G  E         p.200

          .  | 12      .         .         .         .          / .    g.20083
 GAACAGCTCCG | GGCCCGGTCTGCCTGGCTGCCTCCATCACAGCCCTCCTGCCCTGCCAG / G    c.660
 E  Q  L  R  |  A  R  S  A  W  L  P  P  S  Q  P  S  C  P  A  R  /      p.220
                                                                ^ alternative splice site

          .         .         .         .         .         .       g.20143
 GAGAAAGCCCAGGAGCTGTCGGACTGGATCCACCAGCTGGAGTCTGAGAAGTTCGACCTG       c.720
 E  K  A  Q  E  L  S  D  W  I  H  Q  L  E  S  E  K  F  D  L         p.240

          .         .         . | 13       .         .         .    g.20341
 ATGGCGAAGCTGAAACAGCAGAAATATGAG | ATCAACGTGCTGTACAACCGCATCAGCCAC    c.780
 M  A  K  L  K  Q  Q  K  Y  E   | I  N  V  L  Y  N  R  I  S  H      p.260

          .  | 14      .         .         .         .              g.21327
 GCCCAGAAGTT | CCGGAAGGGGGCAGGGAAGGGCCGCGTTGGAGGCCGCTGGAAGTGA       c.837
 A  Q  K  F  |  R  K  G  A  G  K  G  R  V  G  G  R  W  K  X         p.278

          .         .         .         .         .         .       g.21387
 ggatgccgccccggacagtggcacctgggaagcctgggagtgtttgtcccatcggtagct       c.*60

          .         .         .         .         .         .       g.21447
 tgaaataaacgctcccctcagacacccgctgggttctctgatgttattatggttgagatg       c.*120

                                                                    g.21449
 ca                                                                 c.*122

 (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 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.