acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS) - coding DNA reference sequence

(used for variant description)

(last modified November 14, 2024)

This file was created to facilitate the description of sequence variants on transcript NM_000017.2 in the ACADS gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000012.11, covering ACADS transcript NM_000017.2.

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

 (upstream sequence)
           .         .         .         .         .                g.5058
   cggccccgctcccgaggccctacgggcgtggcctctgtcccgggtcccgccccccagc       c.-61

 .         .         .         .         .         .                g.5118
 actccggaacagcgcgctcgcagcgggaggtcgcgaagcctgggactgtgtctgtcgccc       c.-1

          .         .         .         .       | 02 .         .    g.6272
 ATGGCCGCCGCGCTGCTCGCCCGGGCCTCGGGCCCTGCCCGCAGAG | CTCTCTGTCCTAGG    c.60
 M  A  A  A  L  L  A  R  A  S  G  P  A  R  R  A |   L  C  P  R      p.20

          .         .         .         .         .         .       g.6332
 GCCTGGCGGCAGTTACACACCATCTACCAGTCTGTGGAACTGCCCGAGACACACCAGATG       c.120
 A  W  R  Q  L  H  T  I  Y  Q  S  V  E  L  P  E  T  H  Q  M         p.40

          .         .         .         .         .         .       g.6392
 TTGCTCCAGACATGCCGGGACTTTGCCGAGAAGGAGTTGTTTCCCATTGCAGCCCAGGTG       c.180
 L  L  Q  T  C  R  D  F  A  E  K  E  L  F  P  I  A  A  Q  V         p.60

          .         .         . | 03       .         .         .    g.16248
 GATAAGGAACATCTCTTCCCAGCGGCTCAG | GTGAAGAAGATGGGCGGGCTTGGGCTTCTG    c.240
 D  K  E  H  L  F  P  A  A  Q   | V  K  K  M  G  G  L  G  L  L      p.80

          .         .         .         .         .         .       g.16308
 GCCATGGACGTGCCCGAGGAGCTTGGCGGTGCTGGCCTCGATTACCTGGCCTACGCCATC       c.300
 A  M  D  V  P  E  E  L  G  G  A  G  L  D  Y  L  A  Y  A  I         p.100

          .         .         .         .         .         .       g.16368
 GCCATGGAGGAGATCAGCCGTGGCTGCGCCTCCACCGGAGTCATCATGAGTGTCAACAAC       c.360
 A  M  E  E  I  S  R  G  C  A  S  T  G  V  I  M  S  V  N  N         p.120

  | 04       .         .         .         .         .         .    g.16648
  | TCTCTCTACCTGGGGCCCATCTTGAAGTTTGGCTCCAAGGAGCAGAAGCAGGCGTGGGTC    c.420
  | S  L  Y  L  G  P  I  L  K  F  G  S  K  E  Q  K  Q  A  W  V      p.140

          .         .         .         .         .   | 05     .    g.17077
 ACGCCTTTCACCAGTGGTGACAAAATTGGCTGCTTTGCCCTCAGCGAACCAG | GGAACGGC    c.480
 T  P  F  T  S  G  D  K  I  G  C  F  A  L  S  E  P  G |   N  G      p.160

          .         .         .         .         .         .       g.17137
 AGTGATGCAGGAGCTGCGTCCACCACCGCCCGGGCCGAGGGCGACTCATGGGTTCTGAAT       c.540
 S  D  A  G  A  A  S  T  T  A  R  A  E  G  D  S  W  V  L  N         p.180

          .         .         .         .         .         .       g.17197
 GGAACCAAAGCCTGGATCACCAATGCCTGGGAGGCTTCGGCTGCCGTGGTCTTTGCCAGC       c.600
 G  T  K  A  W  I  T  N  A  W  E  A  S  A  A  V  V  F  A  S         p.200

          .         .     | 06   .         .         .         .    g.17548
 ACGGACAGAGCCCTGCAAAACAAG | GGCATCAGTGCCTTCCTGGTCCCCATGCCAACGCCT    c.660
 T  D  R  A  L  Q  N  K   | G  I  S  A  F  L  V  P  M  P  T  P      p.220

          .         .         .         .         .         .       g.17608
 GGGCTCACGTTGGGGAAGAAAGAAGACAAGCTGGGCATCCGGGGCTCATCCACGGCCAAC       c.720
 G  L  T  L  G  K  K  E  D  K  L  G  I  R  G  S  S  T  A  N         p.240

          .         .         .         .         .         .       g.17668
 CTCATCTTTGAGGACTGTCGCATCCCCAAGGACAGCATCCTGGGGGAGCCAGGGATGGGC       c.780
 L  I  F  E  D  C  R  I  P  K  D  S  I  L  G  E  P  G  M  G         p.260

          .      | 07  .         .         .         .         .    g.17810
 TTCAAGATAGCCATG | CAAACCCTGGACATGGGCCGCATCGGCATCGCCTCCCAGGCCCTG    c.840
 F  K  I  A  M   | Q  T  L  D  M  G  R  I  G  I  A  S  Q  A  L      p.280

          .         .         .         .         .         .       g.17870
 GGCATTGCCCAGACCGCCCTCGATTGTGCTGTGAACTACGCTGAGAATCGCATGGCCTTC       c.900
 G  I  A  Q  T  A  L  D  C  A  V  N  Y  A  E  N  R  M  A  F         p.300

          .         .         .    | 08    .         .         .    g.18079
 GGGGCGCCCCTCACCAAGCTCCAGGTCATCCAG | TTCAAGTTGGCAGACATGGCCCTGGCC    c.960
 G  A  P  L  T  K  L  Q  V  I  Q   | F  K  L  A  D  M  A  L  A      p.320

          .         .         .         .         .         .       g.18139
 CTGGAGAGTGCCCGGCTGCTGACCTGGCGCGCTGCCATGCTGAAGGATAACAAGAAGCCT       c.1020
 L  E  S  A  R  L  L  T  W  R  A  A  M  L  K  D  N  K  K  P         p.340

           | 09        .         .         .         .         .    g.18423
 TTCATCAAG | GAGGCAGCCATGGCCAAGCTGGCCGCCTCGGAGGCCGCGACCGCCATCAGC    c.1080
 F  I  K   | E  A  A  M  A  K  L  A  A  S  E  A  A  T  A  I  S      p.360

        | 10 .         .         .         .         .         .    g.18582
 CACCAG | GCCATCCAGATCCTGGGCGGCATGGGCTACGTGACAGAGATGCCGGCAGAGCGG    c.1140
 H  Q   | A  I  Q  I  L  G  G  M  G  Y  V  T  E  M  P  A  E  R      p.380

          .         .         .         .         .         .       g.18642
 CACTACCGCGACGCCCGCATCACTGAGATCTACGAGGGCACCAGCGAAATCCAGCGGCTG       c.1200
 H  Y  R  D  A  R  I  T  E  I  Y  E  G  T  S  E  I  Q  R  L         p.400

          .         .         .                                     g.18681
 GTGATCGCCGGGCATCTGCTCAGGAGCTACCGGAGCTGA                            c.1239
 V  I  A  G  H  L  L  R  S  Y  R  S  X                              p.412

          .         .         .         .         .         .       g.18741
 gcccgcggcggactgccccaggactgcgggaaggcgcgggagccaggggcctccacccca       c.*60

          .         .         .         .         .         .       g.18801
 accccggctcagagactgggcggcccggcgggggctccctggggaccccagatgggctca       c.*120

          .         .         .         .         .         .       g.18861
 gtgctgccacccagatcagatcacatgggaatgaggccctccgaccattggcagctccgc       c.*180

          .         .         .         .         .         .       g.18921
 ctctgggcctttccgcctcctcaccactgtgcctcaagttcctcatctaagtggccctgg       c.*240

          .         .         .         .         .         .       g.18981
 cctcctgggggcggggttgtgggggggctgagcgacactcagggacacctcagttgtcct       c.*300

          .         .         .         .         .         .       g.19041
 cccgcgggccctggtgccctggcatgaaggcccagtgcgacaggcccttggtggggtctg       c.*360

          .         .         .         .         .         .       g.19101
 tcttttccttgaggtcagaggtcaggagcagggctggggtcaggatgacgaggcctgggg       c.*420

          .         .         .         .         .         .       g.19161
 tcctggtgttgggcaggtggtggggctgggccatggagctggcccagaggcccctcagcc       c.*480

          .         .         .         .         .         .       g.19221
 ctttgtaaagtctgatgaaggcaggggtggtgattcatgctgtgtgactgactgtgggta       c.*540

          .         .                                               g.19241
 ataaacacacctgtccccca                                               c.*560

 (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 Acyl-CoA dehydrogenase, C-2 to C-3 short chain 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.