coenzyme Q4 homolog (S. cerevisiae) (COQ4) - coding DNA reference sequence

(used for variant description)

(last modified February 19, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_016035.3 in the COQ4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000009.11, covering COQ4 transcript NM_016035.3.

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

 (upstream sequence)
                     .         .         .         .                g.5047
              gaggttcgcattttatagtcttcggggaaaaccggctgtggagaagg       c.-301

 .         .         .         .         .         .                g.5107
 aaatagggcccggcgctgagtgagcgtggttgcgtgtcctttgcagacactttctggggc       c.-241

 .         .         .         .         .         .                g.5167
 gaggtgacatggcgagagtcttggatcggtggacgtagacggtagacagttcgcgtgcgt       c.-181

 .         .         .         .         .         .                g.5227
 ttccttcgcctacttggcctacatgccttctgcccgtgaagcgatgtttcccctcgaaag       c.-121

 .         .         .         .         .         .                g.5287
 gccgtaggctacgccgtcagaatcggtttttcagtgagttttgacccctccgacgctccg       c.-61

 .         .         .         .         .         .                g.5347
 tcgcctgacagaatcgcggcgttcttcgtacccgcccatcctccgcggacgcccgctgcc       c.-1

          .         .         .         .         .         .       g.5407
 ATGGCGACTCTGCTGCGCCCTGTCCTCCGTCGGCTCTGCGGGCTCCCGGGCCTACAGCGG       c.60
 M  A  T  L  L  R  P  V  L  R  R  L  C  G  L  P  G  L  Q  R         p.20

          . | 02       .         .         .         .         .    g.5554
 CCTGCGGCAG | AAATGCCCCTCCGGGCTAGGAGCGACGGCGCCGGCCCGCTATACTCGCAC    c.120
 P  A  A  E |   M  P  L  R  A  R  S  D  G  A  G  P  L  Y  S  H      p.40

          .         .         .         .         .         .       g.5614
 CACCTCCCCACCTCCCCGCTGCAGAAAGGGCTGTTGGCCGCCGGCTCCGCGGCGATGGCG       c.180
 H  L  P  T  S  P  L  Q  K  G  L  L  A  A  G  S  A  A  M  A         p.60

          .         .   | 03     .         .         .         .    g.7669
 CTCTATAACCCCTACCGCCACG | ACATGGTCGCAGTTCTAGGGGAGACCACAGGACACCGC    c.240
 L  Y  N  P  Y  R  H  D |   M  V  A  V  L  G  E  T  T  G  H  R      p.80

          .         .         .         .         .          | 04    g.8268
 ACCCTGAAGGTCCTCAGGGACCAGATGAGGAGGGATCCAGAGGGTGCCCAGATCCTGCA | G    c.300
 T  L  K  V  L  R  D  Q  M  R  R  D  P  E  G  A  Q  I  L  Q  |      p.100

          .         .         .         .         .         .       g.8328
 GAGCGTCCCCGGATTTCGACATCCACCCTCGACCTGGGCAAGCTCCAGAGCCTGCCGGAA       c.360
 E  R  P  R  I  S  T  S  T  L  D  L  G  K  L  Q  S  L  P  E         p.120

          .         .         .         .   | 05     .         .    g.14659
 GGCTCCCTCGGTCGCGAGTATCTCCGTTTCCTGGATGTGAAC | AGGGTCTCCCCAGACACC    c.420
 G  S  L  G  R  E  Y  L  R  F  L  D  V  N   | R  V  S  P  D  T      p.140

          .         .         .         .         .         .       g.14719
 CGAGCACCCACCCGCTTCGTGGATGATGAGGAGCTAGCGTATGTGATTCAGCGGTACCGG       c.480
 R  A  P  T  R  F  V  D  D  E  E  L  A  Y  V  I  Q  R  Y  R         p.160

          .         .         .         .         .   | 06     .    g.15346
 GAGGTGCACGACATGCTTCACACCCTGCTGGGGATGCCCACCAACATCCTGG | GGGAGATC    c.540
 E  V  H  D  M  L  H  T  L  L  G  M  P  T  N  I  L  G |   E  I      p.180

          .         .         .         .         .         .       g.15406
 GTGGTGAAATGGTTTGAGGCTGTCCAGACTGGCCTGCCCATGTGCATCCTGGGTGCATTC       c.600
 V  V  K  W  F  E  A  V  Q  T  G  L  P  M  C  I  L  G  A  F         p.200

          .         .       | 07 .         .         .         .    g.15996
 TTTGGACCGATCCGACTTGGCGCTCA | GAGCCTGCAAGTGCTGGTCTCGGAGTTGATCCCA    c.660
 F  G  P  I  R  L  G  A  Q  |  S  L  Q  V  L  V  S  E  L  I  P      p.220

          .         .         .         .         .         .       g.16056
 TGGGCCGTTCAGAACGGGCGCAGAGCCCCATGTGTCCTCAACCTGTACTATGAGCGGCGC       c.720
 W  A  V  Q  N  G  R  R  A  P  C  V  L  N  L  Y  Y  E  R  R         p.240

          .         .         .         .         .         .       g.16116
 TGGGAGCAGTCCCTGAGGGCTCTGCGGGAGGAGCTGGGCATTACAGCACCACCCATGCAC       c.780
 W  E  Q  S  L  R  A  L  R  E  E  L  G  I  T  A  P  P  M  H         p.260

          .                                                         g.16134
 GTCCAGGGCTTGGCCTGA                                                 c.798
 V  Q  G  L  A  X                                                   p.265

          .         .         .         .         .         .       g.16194
 gctcctgagccagcggggcctggcctacctcccccatcccctgcttcccttggaggcaga       c.*60

          .         .         .         .         .         .       g.16254
 gggctcccttgactacctttgttcctcttctttgaacactgacccttggacaacatttat       c.*120

          .         .         .         .         .         .       g.16314
 cataatttgtcataaccactgctgagtggccttgaggacgaaccccgcagggagcaagca       c.*180

          .         .         .         .         .         .       g.16374
 gtacagtggcattcccagggggaccagcagctacccaaggagaaccatgcatgaacagta       c.*240

          .         .         .         .         .         .       g.16434
 tcagtcgtctgggctcatgctgggatgtcgcagtgctcctgttgcaactcctcccagcca       c.*300

          .         .         .         .         .         .       g.16494
 gccaggtttgctgggggccaggctgggtgtcctcacaggagtgagggctacacccaattc       c.*360

          .         .         .         .         .         .       g.16554
 caaaagcctgagaagagagaagtggagggggaggcgagtgtgtgaataaaggctcccatc       c.*420

                                                                    g.16561
 aggtcaa                                                            c.*427

 (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 Coenzyme Q4 homolog (S. cerevisiae) 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.