Pyruvate dehydrogenase kinase, isozyme 3 (PDK3) - coding DNA reference sequence

(used for mutation description)

(last modified March 15, 2013)

This file was created to facilitate the description of sequence variants in the PDK3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016762.1, covering PDK3 transcript NM_005391.4.

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

 (upstream sequence)
                     .         .         .         .                g.5049
            gtgcagcaaccgactccgcccagcgaggcggagcctagggaagccgcgg       c.-181

 .         .         .         .         .         .                g.5109
 gcggcccgccgctgtcctggagctgctgctgctgctgcggcggctgcaccggcggcgccg       c.-121

 .         .         .         .         .         .                g.5169
 aggccgagatcgaggccggggtgcgcgcttcgcaaacgtgccctatccgtgcggcttggc       c.-61

 .         .         .         .         .         .                g.5229
 tgcgccagcccttgcggccacccgggcgtctaggcgggtctgtgcgccgcccgggcgagg       c.-1

          .         .         .         .         .         .       g.5289
 ATGCGGCTGTTCCGGTGGCTGCTGAAGCAGCCGGTGCCCAAGCAGATCGAGCGCTACTCG       c.60
 M  R  L  F  R  W  L  L  K  Q  P  V  P  K  Q  I  E  R  Y  S         p.20

          .         .         .         .       | 02 .         .    g.34529
 CGCTTTTCGCCGTCGCCGCTCTCCATCAAACAATTCCTGGACTTCG | GGAGAGATAATGCA    c.120
 R  F  S  P  S  P  L  S  I  K  Q  F  L  D  F  G |   R  D  N  A      p.40

          .         .         .         .         .         .       g.34589
 TGTGAGAAAACTTCATATATGTTTCTACGAAAGGAACTTCCTGTGCGGCTGGCTAACACA       c.180
 C  E  K  T  S  Y  M  F  L  R  K  E  L  P  V  R  L  A  N  T         p.60

          .         .         .         .         .         .       g.34649
 ATGAGAGAAGTTAATCTTCTGCCGGATAATTTACTTAACCGCCCTTCAGTGGGATTGGTT       c.240
 M  R  E  V  N  L  L  P  D  N  L  L  N  R  P  S  V  G  L  V         p.80

          | 03         .         .         .         .         .    g.38654
 CAGAGTTG | GTATATGCAGAGTTTTCTTGAACTTTTAGAATATGAAAATAAGAGCCCTGAG    c.300
 Q  S  W  |  Y  M  Q  S  F  L  E  L  L  E  Y  E  N  K  S  P  E      p.100

          .         . | 04       .         .         .         .    g.43140
 GATCCACAGGTCTTGGATAA | CTTTCTACAAGTTCTGATTAAAGTCAGAAATAGACACAAT    c.360
 D  P  Q  V  L  D  N  |  F  L  Q  V  L  I  K  V  R  N  R  H  N      p.120

          .         .         .         .         .         .       g.43200
 GATGTGGTTCCTACAATGGCACAAGGAGTGATTGAATACAAGGAGAAGTTTGGGTTTGAT       c.420
 D  V  V  P  T  M  A  Q  G  V  I  E  Y  K  E  K  F  G  F  D         p.140

          .         .         .         .         .         .       g.43260
 CCTTTCATTAGCACTAACATCCAATATTTTCTGGATCGGTTTTATACCAACCGCATCTCT       c.480
 P  F  I  S  T  N  I  Q  Y  F  L  D  R  F  Y  T  N  R  I  S         p.160

          .         .      | 05  .         .         .         .    g.45017
 TTCCGCATGCTTATTAATCAGCACA | CACTTCTGTTTGGGGGTGACACTAATCCTGTTCAT    c.540
 F  R  M  L  I  N  Q  H  T |   L  L  F  G  G  D  T  N  P  V  H      p.180

          .         .         .         .         .      | 06  .    g.58711
 CCTAAACACATAGGAAGTATCGATCCCACCTGTAACGTGGCGGATGTGGTGAAAG | ATGCA    c.600
 P  K  H  I  G  S  I  D  P  T  C  N  V  A  D  V  V  K  D |   A      p.200

          .         .         .         .         .         .       g.58771
 TATGAAACAGCCAAGATGCTGTGTGAACAGTATTACCTGGTAGCTCCAGAGCTGGAAGTT       c.660
 Y  E  T  A  K  M  L  C  E  Q  Y  Y  L  V  A  P  E  L  E  V         p.220

          .    | 07    .         .         .         .         .    g.66018
 GAAGAATTCAATG | CCAAAGCGCCAGACAAACCTATTCAGGTGGTTTATGTGCCCTCACAT    c.720
 E  E  F  N  A |   K  A  P  D  K  P  I  Q  V  V  Y  V  P  S  H      p.240

          .         .         . | 08       .         .         .    g.67377
 CTGTTTCATATGCTATTTGAGTTGTTCAAG | AACTCAATGAGAGCGACAGTTGAACTCTAT    c.780
 L  F  H  M  L  F  E  L  F  K   | N  S  M  R  A  T  V  E  L  Y      p.260

          .         .         .         .         .         .       g.67437
 GAAGACAGAAAAGAGGGCTACCCTGCTGTTAAAACCCTCGTTACTTTGGGTAAAGAAGAC       c.840
 E  D  R  K  E  G  Y  P  A  V  K  T  L  V  T  L  G  K  E  D         p.280

          .   | 09     .         .         .         .         .    g.67897
 TTATCCATTAAG | ATCAGTGACCTAGGTGGTGGTGTCCCACTTCGAAAAATAGATCGTCTT    c.900
 L  S  I  K   | I  S  D  L  G  G  G  V  P  L  R  K  I  D  R  L      p.300

          .         .         .         .         .         .       g.67957
 TTTAACTACATGTATTCTACTGCTCCTAGACCCAGCCTGGAGCCTACCAGAGCTGCCCCT       c.960
 F  N  Y  M  Y  S  T  A  P  R  P  S  L  E  P  T  R  A  A  P         p.320

     | 10    .         .         .         .         .         .    g.71487
 TTG | GCTGGATTTGGTTATGGTTTGCCAATTTCCCGTCTGTATGCTAGATATTTTCAAGGA    c.1020
 L   | A  G  F  G  Y  G  L  P  I  S  R  L  Y  A  R  Y  F  Q  G      p.340

          .         .         .         .         .        | 11.    g.73705
 GATCTGAAACTGTATTCCATGGAAGGAGTGGGTACTGATGCTGTCATTTATTTGAAG | GCT    c.1080
 D  L  K  L  Y  S  M  E  G  V  G  T  D  A  V  I  Y  L  K   | A      p.360

          .         .         .         .         .         .       g.73765
 CTTTCAAGTGAGTCATTTGAGAGACTTCCAGTTTTTAATAAGTCCGCATGGCGCCATTAC       c.1140
 L  S  S  E  S  F  E  R  L  P  V  F  N  K  S  A  W  R  H  Y         p.380

          .         .         .         .         .         .       g.73825
 AAGACCACGCCTGAAGCCGATGATTGGAGCAATCCCAGCAGTGAACCCAGGGATGCTTCA       c.1200
 K  T  T  P  E  A  D  D  W  S  N  P  S  S  E  P  R  D  A  S         p.400

          .         .                                               g.73846
 AAATACAAAGCAAAACAGTAA                                              c.1221
 K  Y  K  A  K  Q  X                                                p.406

          .         .         .         .         .         .       g.73906
 tataccaccttgatttccattacaaagtatctgatttgtctgaataaaggtgtcccactc       c.*60

          .         .         .         .         .         .       g.73966
 actgttccaggaattcttgcagtgtagaggtattcacaacagcaagcagggatttggcct       c.*120

          .         .         .         .         .         .       g.74026
 gccatcaattttatttaaaaagcaattaagtttgcagtttgtcctcataaacgttgtagg       c.*180

          .         .         .         .         .         .       g.74086
 ttgaaactgaaaaataagttaaaatgatcaatcaagataaaaggtgatctatccatccaa       c.*240

          .         .         .         .         .         .       g.74146
 tggaatattatttggccttaaaaaggaaggacattctgatatgtgctgcaacatgggtga       c.*300

          .         .         .         .         .                 g.74199
 atcttgaagtcattatgctaagtgaaataaaccagacataaaaggacaaatac              c.*353

 (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 Pyruvate dehydrogenase kinase, isozyme 3 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.