coenzyme Q5 homolog, methyltransferase (S. cerevisiae) (COQ5) - coding DNA reference sequence

(used for variant description)

(last modified November 23, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_032314.3 in the COQ5 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000012.11, covering COQ5 transcript NM_032314.3.

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

 (upstream sequence)
                                         .         .                g.5020
                                         gttgtcactcgactaccaag       c.-1

          .         .         .         .         .         .       g.5080
 ATGGCGGCCCCCGGGAGCTGTGCTCTATGGAGCTATTGCGGCCGTGGGTGGTCGCGGGCG       c.60
 M  A  A  P  G  S  C  A  L  W  S  Y  C  G  R  G  W  S  R  A         p.20

          .         .         .         .         .         .       g.5140
 ATGCGGGGCTGCCAGCTCCTCGGGCTTCGTAGCTCTTGGCCCGGGGACCTACTAAGTGCT       c.120
 M  R  G  C  Q  L  L  G  L  R  S  S  W  P  G  D  L  L  S  A         p.40

          .         .         .         .         .         .       g.5200
 CGGCTCTTGTCCCAAGAGAAGCGGGCAGCGGAAACGCACTTTGGGTTTGAGACTGTGTCG       c.180
 R  L  L  S  Q  E  K  R  A  A  E  T  H  F  G  F  E  T  V  S         p.60

          .         .   | 02     .         .         .         .    g.11836
 GAAGAGGAGAAGGGGGGCAAAG | TCTATCAGGTGTTTGAAAGTGTGGCTAAGAAGTATGAT    c.240
 E  E  E  K  G  G  K  V |   Y  Q  V  F  E  S  V  A  K  K  Y  D      p.80

          .         .         .         .         .         .       g.11896
 GTGATGAATGATATGATGAGTCTTGGTATCCATCGTGTTTGGAAGGATTTGCTGCTCTGG       c.300
 V  M  N  D  M  M  S  L  G  I  H  R  V  W  K  D  L  L  L  W         p.100

          .         .         .         .         .   | 03     .    g.17381
 AAGATGCACCCGCTTCCTGGGACCCAGCTGCTTGATGTTGCTGGAGGCACAG | GTGACATT    c.360
 K  M  H  P  L  P  G  T  Q  L  L  D  V  A  G  G  T  G |   D  I      p.120

          .         .         .         .         .         .       g.17441
 GCATTCCGGTTCCTTAATTATGTTCAGTCCCAGCATCAGAGAAAACAGAAGAGGCAGTTA       c.420
 A  F  R  F  L  N  Y  V  Q  S  Q  H  Q  R  K  Q  K  R  Q  L         p.140

          .         .         .         .         .         .       g.17501
 AGGGCCCAACAAAATTTATCCTGGGAAGAAATTGCCAAAGAGTACCAGAATGAAGAAGAT       c.480
 R  A  Q  Q  N  L  S  W  E  E  I  A  K  E  Y  Q  N  E  E  D         p.160

          .         .         .         .         .         .       g.17561
 TCCTTGGGCGGGTCTCGTGTCGTGGTGTGTGACATCAACAAGGAGATGCTAAAGGTTGGA       c.540
 S  L  G  G  S  R  V  V  V  C  D  I  N  K  E  M  L  K  V  G         p.180

          .         .         .     | 04   .         .         .    g.24064
 AAGCAGAAAGCCTTGGCTCAAGGATACAGAGCTG | GACTTGCATGGGTATTAGGAGATGCT    c.600
 K  Q  K  A  L  A  Q  G  Y  R  A  G |   L  A  W  V  L  G  D  A      p.200

          .         .         .         .         .         .       g.24124
 GAAGAACTGCCCTTTGATGATGACAAGTTTGATATTTACACCATTGCCTTTGGGATCCGG       c.660
 E  E  L  P  F  D  D  D  K  F  D  I  Y  T  I  A  F  G  I  R         p.220

          .         .  | 05      .         .         .         .    g.29217
 AATGTCACACACATTGATCAG | GCACTCCAGGAAGCTCATCGGGTGCTGAAACCAGGAGGA    c.720
 N  V  T  H  I  D  Q   | A  L  Q  E  A  H  R  V  L  K  P  G  G      p.240

          .         .         .         .         . | 06       .    g.30090
 CGGTTTCTCTGTCTGGAATTTAGCCAAGTGAACAATCCCCTCATATCCAG | GCTTTATGAT    c.780
 R  F  L  C  L  E  F  S  Q  V  N  N  P  L  I  S  R  |  L  Y  D      p.260

          .         .         .         .         .         .       g.30150
 CTATATAGCTTCCAGGTCATCCCTGTCCTGGGAGAGGTCATCGCTGGAGACTGGAAGTCC       c.840
 L  Y  S  F  Q  V  I  P  V  L  G  E  V  I  A  G  D  W  K  S         p.280

          .         .         .         .   | 07     .         .    g.30294
 TATCAGTACCTTGTAGAGAGTATCCGAAGGTTTCCGTCTCAG | GAAGAGTTCAAGGACATG    c.900
 Y  Q  Y  L  V  E  S  I  R  R  F  P  S  Q   | E  E  F  K  D  M      p.300

          .         .         .         .         .         .       g.30354
 ATAGAAGATGCAGGCTTTCACAAGGTGACTTACGAAAGTCTAACATCAGGCATTGTGGCC       c.960
 I  E  D  A  G  F  H  K  V  T  Y  E  S  L  T  S  G  I  V  A         p.320

          .         .                                               g.30378
 ATTCATTCTGGCTTCAAACTTTAA                                           c.984
 I  H  S  G  F  K  L  X                                             p.327

          .         .         .         .         .         .       g.30438
 ttcctttcctatcatggagcatgaaccagtcatatcctgttgaaagcctggaactgaagg       c.*60

          .         .         .         .         .         .       g.30498
 ataatctggcaaatgagacagcagcagagcatctcctcttaaggatacgtgccttggact       c.*120

          .         .         .         .         .         .       g.30558
 catgtttgaatcgaacagtctcaaagtggaagaacaaattcttgtcacttttttacagct       c.*180

          .         .         .         .         .         .       g.30618
 ttctttggagctgcttcagtccatctcccagaggcatttggtctgtatctttgctcaact       c.*240

          .         .         .         .         .         .       g.30678
 gctaatttctcttggctgtagggtgtgtggttaaggtacaaccacccctaaagctcagtt       c.*300

          .         .         .         .         .         .       g.30738
 ttgaagtgagtgtatttatagcttctctgctggtgctgccttctagagggatgatagatc       c.*360

          .         .         .         .         .         .       g.30798
 atttgaacccaatgacaatttttaaccagaaaatttaattgtacctgaatcaacctttca       c.*420

          .         .         .         .         .         .       g.30858
 gcctaggacgaagtctaggcccaagtcagagtattaatgatcatgagaattgtgtgctga       c.*480

          .         .                                               g.30883
 accagtaaacgagtttaccttttga                                          c.*505

 (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 Q5 homolog, methyltransferase (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.