Troponin I type 2 (TNNI2) - 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 TNNI2 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_011621.1, covering TNNI2 transcript variant-1 (NM_003282.3). Transcript variant-2 (NM_001145829.1) uses an alternative promoter/exon01b in intron 01. Transcript variant-3 (NM_001145841.1) an alternative promoter/exon01c in intron 03.

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

 (upstream sequence)
           .         .         .        | 02.         .             g.5694
        ctcgctcccagccctgctgcccagattctag | gctccaagctcaggacctcagg    c.-1
                                        ^  alternative promoter/exon01b

          | 03      | 04  .         .         .         .        | 05. g.6528
 ATGGGAGA | TGAGGAG | AAGCGGAACAGGGCCATCACGGCCCGCAGGCAGCACCTGAAG | AGT c.60
 M  G  D  |  E  E   | K  R  N  R  A  I  T  A  R  R  Q  H  L  K   | S   p.20
                    ^  alternative promoter/exon01c

          .         .         .         .         .         .       g.6588
 GTGATGCTGCAGATAGCGGCCACGGAGCTGGAGAAGGAGGAGAGCCGCCGTGAGGCAGAG       c.120
 V  M  L  Q  I  A  A  T  E  L  E  K  E  E  S  R  R  E  A  E         p.40

          .         .         .         .         .         .       g.6648
 AAGCAGAACTACCTGGCGGAGCACTGCCCGCCGCTGCATATCCCGGGCTCCATGTCTGAA       c.180
 K  Q  N  Y  L  A  E  H  C  P  P  L  H  I  P  G  S  M  S  E         p.60

        | 06 .         .         .         .         .         .    g.6870
 GTGCAG | GAGCTCTGCAAACAGCTGCACGCCAAGATCGATGCGGCTGAAGAGGAGAAGTAC    c.240
 V  Q   | E  L  C  K  Q  L  H  A  K  I  D  A  A  E  E  E  K  Y      p.80

          .         .         .       | 07 .         .         .    g.7052
 GACATGGAGGTGAGGGTGCAGAAGACCAGCAAGGAG | CTGGAGGACATGAACCAGAAGCTA    c.300
 D  M  E  V  R  V  Q  K  T  S  K  E   | L  E  D  M  N  Q  K  L      p.100

          .         .         .         .         .         .       g.7112
 TTTGATCTGCGGGGCAAGTTCAAGCGGCCCCCACTGCGGAGGGTGCGCATGTCGGCCGAT       c.360
 F  D  L  R  G  K  F  K  R  P  P  L  R  R  V  R  M  S  A  D         p.120

          .         .         .         .         .         .       g.7172
 GCCATGCTCAAGGCCCTGCTGGGCTCGAAGCACAAGGTGTGCATGGACCTGAGGGCCAAC       c.420
 A  M  L  K  A  L  L  G  S  K  H  K  V  C  M  D  L  R  A  N         p.140

          .         .         .    | 08    .         .         .    g.7480
 CTGAAGCAGGTCAAGAAGGAGGACACAGAGAAG | GAGCGGGACCTGCGAGACGTGGGTGAC    c.480
 L  K  Q  V  K  K  E  D  T  E  K   | E  R  D  L  R  D  V  G  D      p.160

          .         .         .         .         .         .       g.7540
 TGGAGGAAGAACATCGAGGAGAAGTCTGGCATGGAGGGCCGGAAGAAGATGTTTGAGTCC       c.540
 W  R  K  N  I  E  E  K  S  G  M  E  G  R  K  K  M  F  E  S         p.180

                                                                    g.7549
 GAGTCCTAG                                                          c.549
 E  S  X                                                            p.182

          .         .         .         .         .         .       g.7609
 gccactcgctgcccctacgcctgccccggtgcccggctcccagcagaacatactagggag       c.*60

          .         .         .         .         .         .       g.7669
 atgcacccagagcctgccagggagggctggcctcaccaccaccgtcaataaaggatttga       c.*120

                                                                    g.7678
 atccccatg                                                          c.*129

 (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 I type 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.