Troponin I type 3 (cardiac) (TNNI3) - coding DNA reference sequence

(used for mutation description)

(last modified July 23, 2010)

This file was created to facilitate the description of sequence variants in the TNNI3 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_007866.1, covering TNNI3 transcript NM_000363.4.

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

 (upstream sequence)
                                         .         .                g.5023
                                      agtgtcctcggggagtctcaagc       c.-121

 .         .         .         .         .         .                g.5083
 agcccggaggagactgacggtccctgggaccctgaaggtcacccgggcggccccctcact       c.-61

 .         .         .         .         .         .                g.5143
 gaccctccaaacgcccctgtcctcgccctgcctcctgccattcccggcctgagtctcagc       c.-1

          .  | 02      .     | 03   .         .         .         . g.5635
 ATGGCGGATGG | GAGCAGCGATGCG | GCTAGGGAACCTCGCCCTGCACCAGCCCCAATCAGA c.60
 M  A  D  G  |  S  S  D  A   | A  R  E  P  R  P  A  P  A  P  I  R   p.20

          .         .         .         .         | 04         .    g.6100
 CGCCGCTCCTCCAACTACCGCGCTTATGCCACGGAGCCGCACGCCAAG | AAAAAATCTAAG    c.120
 R  R  S  S  N  Y  R  A  Y  A  T  E  P  H  A  K   | K  K  S  K      p.40

          .         .         . | 05       .         .         .    g.6430
 ATCTCCGCCTCGAGAAAATTGCAGCTGAAG | ACTCTGCTGCTGCAGATTGCAAAGCAAGAG    c.180
 I  S  A  S  R  K  L  Q  L  K   | T  L  L  L  Q  I  A  K  Q  E      p.60

          .         .         .         .         .         .       g.6490
 CTGGAGCGAGAGGCGGAGGAGCGGCGCGGAGAGAAGGGGCGCGCTCTGAGCACCCGCTGC       c.240
 L  E  R  E  A  E  E  R  R  G  E  K  G  R  A  L  S  T  R  C         p.80

          .         .         .         .   | 06     .         .    g.7920
 CAGCCGCTGGAGTTGGCCGGGCTGGGCTTCGCGGAGCTGCAG | GACTTGTGCCGACAGCTC    c.300
 Q  P  L  E  L  A  G  L  G  F  A  E  L  Q   | D  L  C  R  Q  L      p.100

          .         .         .         .         .         .       g.7980
 CACGCCCGTGTGGACAAGGTGGATGAAGAGAGATACGACATAGAGGCAAAAGTCACCAAG       c.360
 H  A  R  V  D  K  V  D  E  E  R  Y  D  I  E  A  K  V  T  K         p.120

          .   | 07     .         .         .         .         .    g.8574
 AACATCACGGAG | ATTGCAGATCTGACTCAGAAGATCTTTGACCTTCGAGGCAAGTTTAAG    c.420
 N  I  T  E   | I  A  D  L  T  Q  K  I  F  D  L  R  G  K  F  K      p.140

          .         .         .         .         .         .       g.8634
 CGGCCCACCCTGCGGAGAGTGAGGATCTCTGCAGATGCCATGATGCAGGCGCTGCTGGGG       c.480
 R  P  T  L  R  R  V  R  I  S  A  D  A  M  M  Q  A  L  L  G         p.160

          .         .         .         .         .         .       g.8694
 GCCCGGGCTAAGGAGTCCCTGGACCTGCGGGCCCACCTCAAGCAGGTGAAGAAGGAGGAC       c.540
 A  R  A  K  E  S  L  D  L  R  A  H  L  K  Q  V  K  K  E  D         p.180

           | 08        .         .         .         .         .    g.10866
 ACCGAGAAG | GAAAACCGGGAGGTGGGAGACTGGCGCAAGAACATCGATGCACTGAGTGGA    c.600
 T  E  K   | E  N  R  E  V  G  D  W  R  K  N  I  D  A  L  S  G      p.200

          .         .         .                                     g.10899
 ATGGAGGGCCGCAAGAAAAAGTTTGAGAGCTGA                                  c.633
 M  E  G  R  K  K  K  F  E  S  X                                    p.210

          .         .         .         .         .         .       g.10959
 gccttcctgcctactgcccctgccctgaggagggccctgaggaataaagcttctctctga       c.*60

                                                                    g.10966
 gctgaaa                                                            c.*67

 (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 3 (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.