cytochrome c oxidase assembly factor 5 (COA5) - coding DNA reference sequence

(used for variant description)

(last modified October 18, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_001008215.2 in the COA5 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000002.11, covering COA5 transcript NM_001008215.2.

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

 (upstream sequence)
           .         .         .         .         .                g.5053
        gttgttgccgctggcttccggtcccctgagactggggcctcgctcgctcccga       c.-61

 .         .         .         .         .         .                g.5113
 cccggttgcaagtgttgcggtgggagaaagtcgcgtccgcatcggaggggaagcgccgtc       c.-1

          .         .         .         .         .         .       g.5173
 ATGCCTAAGTATTATGAGGACAAGCCGCAGGGCGGCGCGTGCGCGGGCCTGAAGGAGGAC       c.60
 M  P  K  Y  Y  E  D  K  P  Q  G  G  A  C  A  G  L  K  E  D         p.20

          .         .         .          | 02        .         .    g.9348
 CTGGGCGCGTGTCTGCTGCAGTCGGACTGTGTGGTCCAG | GAAGGAAAATCACCTCGGCAG    c.120
 L  G  A  C  L  L  Q  S  D  C  V  V  Q   | E  G  K  S  P  R  Q      p.40

          .         .         .         .         .         .       g.9408
 TGTTTGAAGGAAGGATACTGCAACTCTTTGAAGTACGCATTTTTTGAGTGTAAAAGATCA       c.180
 C  L  K  E  G  Y  C  N  S  L  K  Y  A  F  F  E  C  K  R  S         p.60

     | 03    .         .         .         .                        g.12782
 GTG | TTGGATAACAGGGCAAGATTCAGAGGAAGAAAAGGATATTGA                   c.225
 V   | L  D  N  R  A  R  F  R  G  R  K  G  Y  X                     p.74

          .         .         .         .         .         .       g.12842
 tgcattatgttgaagccaacatggaaaacaacaaatattttccctggtcattaacacaaa       c.*60

          .         .         .         .         .         .       g.12902
 gaagccaaaacaggaaacatactttttactacatctgtttggttggaccagatttcccct       c.*120

          .         .         .         .         .         .       g.12962
 ccgtggaacactgaagaaagtggatgagttgttttcgaatatgtataaagtaaatgattc       c.*180

          .         .         .         .         .         .       g.13022
 tcttgatccaagttatttttagaagaaaaacctaattgaacaggtatgggttgggagcat       c.*240

          .         .         .         .         .         .       g.13082
 aataaatgtgttttgagaattgttctaaagcacagaaaatggaaagactgttatttgcaa       c.*300

          .         .         .         .         .         .       g.13142
 acttgactcttcaattgaattacccaattagtacaggccactgatttgactgacacagtc       c.*360

          .         .         .         .         .         .       g.13202
 gataacatgcagcctatccagaaggtgtctgttgggaaagtttaggataaaactttttct       c.*420

          .         .         .         .         .         .       g.13262
 ttagttcagtcttttcctgtctagttctaaaatgaattgtgtttgattccttagagaaga       c.*480

          .         .         .         .         .         .       g.13322
 aatacttcatttgtgctctgattcactgaagtaataacctcagcactttaatagcgtcca       c.*540

          .         .         .         .         .         .       g.13382
 caggcatagctgatgctaggccccagattgtgttgcccaggctctttaccatcatcttcg       c.*600

          .         .         .         .         .         .       g.13442
 gactgtttttgtttcctggttacattttcagtctggcccgctctacataatgggccagtg       c.*660

          .         .         .         .         .         .       g.13502
 tcagctccaagtccacatccttattatccatgattcaaaagggagagagagaacttcctt       c.*720

          .         .         .         .         .         .       g.13562
 tttcagggtccacaaatcaaatctataaaaggactctggtcttcccaggatcacctgccc       c.*780

          .         .         .         .         .         .       g.13622
 ttgcattggaccagtccctgtggaagaggggatgggggcctgtgatcttggccaggcctg       c.*840

          .         .         .         .         .         .       g.13682
 ggctatctatctgcactgtcattgctaactcctgtcagaatcacatggatgagtagtggg       c.*900

          .         .         .         .         .         .       g.13742
 ctgaatcccaaaaggaaaggggtttagagcaagtggaaacaacagatgttcactatagaa       c.*960

          .         .         .         .         .         .       g.13802
 agcaagaatgaaaaccatgaagtggttgaagattagccttacagtaattttattctgatc       c.*1020

          .         .         .         .         .         .       g.13862
 acttaatacagtagagtcaaacaggaatccaagtttccaactttattatttttggcactg       c.*1080

          .         .         .         .         .         .       g.13922
 aagaattacaaagaactctagcgtctttatacctccgtggttcactggagttaaagcaat       c.*1140

          .         .         .         .         .         .       g.13982
 cggggcgttgtacagctcacttgagtttttaaaggttctactaaaaagtgagaattccac       c.*1200

          .         .         .         .         .         .       g.14042
 agcaatatgggtcattgttgcagaatatcacaaaggtctgttgtgtatactccttttcac       c.*1260

          .         .         .         .         .         .       g.14102
 caggaaagggacaataatagtttttttcaatgtatatatatataagtgatctaacttttt       c.*1320

          .         .         .         .         .         .       g.14162
 attaataaaagtaaacaactctaaaatgtatattataaagccctgtcatctttgttgagt       c.*1380

          .         .         .         .                           g.14211
 aatagctttattgagctttatttggagaaatacacataccgtaaaattc                  c.*1429

 (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 Cytochrome c oxidase assembly factor 5 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 variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.