glutaryl-CoA dehydrogenase (GCDH) - coding DNA reference sequence

(used for variant description)

(last modified July 18, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_000159.2 in the GCDH gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009292.1, covering GCDH transcript NM_000159.2.

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

 (upstream sequence)
                                                   .                g.5017
                                            agttgcactgtagcctc       c.-61

 .         .         .      | 02  .         .         .             g.5145
 ggcagtgaaccgggaggtactaccag | gtcgccgtcgttgctccgctcgctctgagagagc    c.-1

          .         .         .         .         .         .       g.5205
 ATGGCCCTGAGAGGCGTCTCCGTGCGGCTGCTGAGCCGCGGACCCGGCCTGCACGTCCTT       c.60
 M  A  L  R  G  V  S  V  R  L  L  S  R  G  P  G  L  H  V  L         p.20

          .         .         .  | 03      .         .         .    g.5356
 CGCACGTGGGTCTCGTCGGCGGCGCAGACCG | AGAAAGGCGGGAGAACACAGAGCCAACTG    c.120
 R  T  W  V  S  S  A  A  Q  T  E |   K  G  G  R  T  Q  S  Q  L      p.40

         | 04.         .         .         .         .         .    g.5724
 GCTAAGT | CCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTG    c.180
 A  K  S |   S  R  P  E  F  D  W  Q  D  P  L  V  L  E  E  Q  L      p.60

          .         .         .         .         .         .       g.5784
 ACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATG       c.240
 T  T  D  E  I  L  I  R  D  T  F  R  T  Y  C  Q  E  R  L  M         p.80

          .         .         .  | 05      .         .         .    g.5985
 CCTCGCATCCTGTTGGCCAATCGCAACGAAG | TTTTTCATCGGGAGATCATTTCGGAGATG    c.300
 P  R  I  L  L  A  N  R  N  E  V |   F  H  R  E  I  I  S  E  M      p.100

          .         .         .     | 06   .         .         .    g.7349
 GGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAG | GATATGGCTGTGCTGGGGTTTCGTCT    c.360
 G  E  L  G  V  L  G  P  T  I  K  G |   Y  G  C  A  G  V  S  S      p.120

          .         .         .         .         .         .       g.7409
 GTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCG       c.420
 V  A  Y  G  L  L  A  R  E  L  E  R  V  D  S  G  Y  R  S  A         p.140

          .         .         .         .         .         .       g.7469
 ATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAG       c.480
 M  S  V  Q  S  S  L  V  M  H  P  I  Y  A  Y  G  S  E  E  Q         p.160

          .         .      | 07  .         .         .         .    g.9867
 CGGCAGAAGTACCTGCCCCAGCTGG | CCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACA    c.540
 R  Q  K  Y  L  P  Q  L  A |   K  G  E  L  L  G  C  F  G  L  T      p.180

          .         .         .         .         .         .       g.9927
 GAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCC       c.600
 E  P  N  S  G  S  D  P  S  S  M  E  T  R  A  H  Y  N  S  S         p.200

          .         .         .      | 08  .         .         .    g.10070
 AACAAGAGCTACACCCTCAATGGGACCAAGACCTG | GATCACGAACTCGCCTATGGCCGAT    c.660
 N  K  S  Y  T  L  N  G  T  K  T  W  |  I  T  N  S  P  M  A  D      p.220

          .         .         .         .         .         .       g.10130
 CTGTTTGTAGTGTGGGCTCGGTGTGAAGATGGCTGCATTCGGGGCTTCCTGCTGGAGAAG       c.720
 L  F  V  V  W  A  R  C  E  D  G  C  I  R  G  F  L  L  E  K         p.240

          .         .         .         .         .         .       g.10190
 GGGATGCGGGGTCTCTCGGCCCCCAGGATCCAGGGCAAGTTCTCGCTGCGGGCCTCAGCC       c.780
 G  M  R  G  L  S  A  P  R  I  Q  G  K  F  S  L  R  A  S  A         p.260

          .         .         .         .         .         .       g.10250
 ACAGGCATGATCATCATGGACGGTGTGGAGGTGCCAGAGGAGAATGTGCTCCCTGGTGCA       c.840
 T  G  M  I  I  M  D  G  V  E  V  P  E  E  N  V  L  P  G  A         p.280

          .   | 09     .         .         .         .         .    g.10798
 TCCAGCCTGGGG | GGTCCCTTCGGCTGCCTGAACAACGCCCGGTACGGCATCGCGTGGGGC    c.900
 S  S  L  G   | G  P  F  G  C  L  N  N  A  R  Y  G  I  A  W  G      p.300

          .         .         .         .         .       | 10 .    g.11147
 GTGCTTGGAGCTTCGGAGTTCTGCTTGCACACAGCCCGGCAGTACGCCCTCGACAG | GATG    c.960
 V  L  G  A  S  E  F  C  L  H  T  A  R  Q  Y  A  L  D  R  |  M      p.320

          .         .         .         .         .         .       g.11207
 CAGTTTGGTGTCCCACTGGCCAGGAACCAGCTGATTCAGAAGAAGCTGGCAGACATGCTC       c.1020
 Q  F  G  V  P  L  A  R  N  Q  L  I  Q  K  K  L  A  D  M  L         p.340

          .         .         .         .         .         .       g.11267
 ACTGAGATTACCCTGGGCCTTCACGCCTGCCTGCAGCTCGGCCGCTTGAAGGACCAGGAC       c.1080
 T  E  I  T  L  G  L  H  A  C  L  Q  L  G  R  L  K  D  Q  D         p.360

    | 11     .         .         .         .         .         .    g.11601
 AA | GGCTGCCCCCGAGATGGTTTCTCTGCTGAAGAGGAATAACTGTGGGAAAGCCCTGGAC    c.1140
 K  |  A  A  P  E  M  V  S  L  L  K  R  N  N  C  G  K  A  L  D      p.380

          .         .         .         .         .         .       g.11661
 ATCGCCCGCCAGGCCCGAGACATGCTGGGGGGGAATGGGATTTCTGACGAGTATCACGTG       c.1200
 I  A  R  Q  A  R  D  M  L  G  G  N  G  I  S  D  E  Y  H  V         p.400

          .         .         .         .    | 12    .         .    g.13325
 ATCCGGCACGCCATGAACCTGGAGGCCGTGAACACCTACGAAG | GTACACATGACATTCAC    c.1260
 I  R  H  A  M  N  L  E  A  V  N  T  Y  E  G |   T  H  D  I  H      p.420

          .         .         .         .         .                 g.13382
 GCCCTGATCCTTGGGAGAGCTATCACGGGAATCCAGGCGTTCACGGCCAGCAAGTGA          c.1317
 A  L  I  L  G  R  A  I  T  G  I  Q  A  F  T  A  S  K  X            p.438

          .         .         .         .         .         .       g.13442
 gccgctccatcaggggcccgaaactctcaagcccctttctggagagatgcctggctggac       c.*60

          .         .         .         .         .         .       g.13502
 cgtaggagcgctgtgctctgagcttagaaagggaggtggcggatggagtgggaagtgaga       c.*120

          .         .         .         .         .         .       g.13562
 gacactgatttttaaatatcaaaatttcccttctgaagtcgttcagatgtgttccttaaa       c.*180

          .         .         .         .         .         .       g.13622
 aagaagatggaattctctgtagagcgtctcaatccacttttaaccatggatgagagcaga       c.*240

          .         .         .         .         .         .       g.13682
 ctccatttaccctgaaatagcagcttctcttgagaggagagtgacatggaagcaactccg       c.*300

          .         .         .         .         .         .       g.13742
 tctgctgcagctgaccccctcacactgagttcacagtgcgccctccctccctcccatctg       c.*360

          .         .         .         .         .         .       g.13802
 ggggtagtgccttatgctgggtgttggagcagagtgagggagaggaaaataaagacctgc       c.*420

                                                                    g.13810
 acatctga                                                           c.*428

 (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 Glutaryl-CoA dehydrogenase 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.