translational activator of mitochondrially encoded cytochrome c oxidase I (TACO1) - coding DNA reference sequence

(used for variant description)

(last modified June 16, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_016360.3 in the TACO1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016979.1, covering TACO1 transcript NM_016360.3.

Please note that introns are available by clicking on the exon numbers above the sequence. 
 (upstream sequence)
                               .         .         .                g.5032
                             gtgctacgccatcaagggcccccagtcccggg       c.-181

 .         .         .         .         .         .                g.5092
 tgccgcggggacagtgtagggtcattagctgttgagccgccccgggcgggcccaagcctt       c.-121

 .         .         .         .         .         .                g.5152
 tggatctcaggtgaccggcacaggcggccgcggggtccggaactgcttgttccggcagtg       c.-61

 .         .         .         .         .         .                g.5212
 gaagagacgcgccggcgttggccgctgctgctagcagcttgaaccccagggtcgggaccg       c.-1

          .         .         .         .         .         .       g.5272
 ATGTCGGCTTGGGCTGCTGCCAGCCTAAGCAGGGCCGCTGCCCGATGCTTGCTGGCACGA       c.60
 M  S  A  W  A  A  A  S  L  S  R  A  A  A  R  C  L  L  A  R         p.20

          .         .         .         .         .         .       g.5332
 GGCCCCGGGGTCAGGGCGGCTCCTCCGCGCGACCCCCGGCCCTCCCACCCCGAGCCCCGG       c.120
 G  P  G  V  R  A  A  P  P  R  D  P  R  P  S  H  P  E  P  R         p.40

          .         .         .         .         .         .       g.5392
 GGCTGCGGTGCCGCTCCGGGCAGGACGCTGCACTTTACCGCGGCTGTCCCCGCCGGGCAC       c.180
 G  C  G  A  A  P  G  R  T  L  H  F  T  A  A  V  P  A  G  H         p.60

          .         .         .         .         .         .       g.5452
 AACAAGTGGTCCAAAGTCAGGCACATCAAGGGTCCGAAGGACGTCGAAAGGAGTCGCATC       c.240
 N  K  W  S  K  V  R  H  I  K  G  P  K  D  V  E  R  S  R  I         p.80

          .         .         .         . | 02       .         .    g.8683
 TTCTCCAAACTCTGTTTGAACATCCGCCTGGCAGTGAAAG | AAGGAGGCCCCAACCCTGAG    c.300
 F  S  K  L  C  L  N  I  R  L  A  V  K  E |   G  G  P  N  P  E      p.100

          .         .         .         .         .         .       g.8743
 CACAACAGCAACCTGGCCAATATCTTAGAGGTGTGTCGCAGCAAACATATGCCCAAGTCA       c.360
 H  N  S  N  L  A  N  I  L  E  V  C  R  S  K  H  M  P  K  S         p.120

          .         .        | 03.         .         .         .    g.10475
 ACGATTGAGACAGCACTGAAAATGGAG | AAATCCAAGGACACTTATTTGCTGTATGAGGGT    c.420
 T  I  E  T  A  L  K  M  E   | K  S  K  D  T  Y  L  L  Y  E  G      p.140

          .         .         .         .         .         .       g.10535
 CGAGGCCCTGGTGGCTCTTCTCTGCTCATCGAGGCATTATCTAACAGTAGCCACAAGTGC       c.480
 R  G  P  G  G  S  S  L  L  I  E  A  L  S  N  S  S  H  K  C         p.160

          .         .         .      | 04  .         .         .    g.11441
 CAAGCAGACATTAGACATATCCTGAATAAGAATGG | AGGAGTGATGGCTGTAGGAGCTCGT    c.540
 Q  A  D  I  R  H  I  L  N  K  N  G  |  G  V  M  A  V  G  A  R      p.180

          .         .         .         .         .         .       g.11501
 CACTCTTTTGACAAAAAGGGGGTGATTGTGGTTGAAGTGGAGGACAGAGAGAAGAAGGCT       c.600
 H  S  F  D  K  K  G  V  I  V  V  E  V  E  D  R  E  K  K  A         p.200

          .         .         .         .         .         .       g.11561
 GTGAACCTAGAGCGTGCCCTGGAGATGGCAATCGAAGCAGGAGCTGAGGATGTCAAGGAA       c.660
 V  N  L  E  R  A  L  E  M  A  I  E  A  G  A  E  D  V  K  E         p.220

          .         .         .    | 05    .         .         .    g.11958
 ACTGAAGATGAAGAAGAAAGGAACGTTTTTAAA | TTTATTTGTGATGCCTCTTCACTGCAC    c.720
 T  E  D  E  E  E  R  N  V  F  K   | F  I  C  D  A  S  S  L  H      p.240

          .         .         .         .         .         .       g.12018
 CAAGTGAGGAAGAAGCTGGACTCCCTGGGCCTGTGTTCTGTGTCCTGTGCACTAGAGTTC       c.780
 Q  V  R  K  K  L  D  S  L  G  L  C  S  V  S  C  A  L  E  F         p.260

          .         .         .         .         .         .       g.12078
 ATCCCCAACTCAAAGGTGCAGCTGGCTGAGCCCGACCTGGAACAGGCCGCACATCTCATT       c.840
 I  P  N  S  K  V  Q  L  A  E  P  D  L  E  Q  A  A  H  L  I         p.280

          .         .         .         .         .                 g.12132
 CAGGCTCTCAGCAACCACGAGGATGTGATTCACGTCTATGATAACATTGAATAA             c.894
 Q  A  L  S  N  H  E  D  V  I  H  V  Y  D  N  I  E  X               p.297

          .         .         .         .         .         .       g.12192
 ccaggctacatgtgcccccgggttccttcctagaaatgtggcagcccattccagcacaca       c.*60

          .         .         .         .         .         .       g.12252
 ggcttctgcagcaatctctgagggtaaagccggtgggaggctcagcaggccaggaggccc       c.*120

          .         .         .         .         .         .       g.12312
 aaggacaggacttgcgaccttgaagccaaaggaatctcacttgtggggcctccttgtcag       c.*180

          .         .         .         .         .         .       g.12372
 ctctgctgctgtctcagagccatctggatgagtgtcccgacaccctctcggatgcagggc       c.*240

          .         .         .         .         .         .       g.12432
 aggaccacccagctggtcagactctgatgttgggtagctggcctctgtggggattgtaag       c.*300

          .         .         .         .         .         .       g.12492
 tgccctgaggcgctctgtactagaaactgctcttaataataacggtgattattggttgct       c.*360

                                                                    g.12495
 gca                                                                c.*363

 (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 10th nucleotide is indicated by a "." above the sequence. The Translational activator of mitochondrially encoded cytochrome c oxidase I protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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 variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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