pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1) - coding DNA reference sequence

(used for variant description)

(last modified February 24, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_000284.3 in the PDHA1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016781.1, covering PDHA1 transcript NM_000284.3.

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

 (upstream sequence)
                                         .         .                g.5025
                                    agcgcatgacgttattacgactctg       c.-121

 .         .         .         .         .         .                g.5085
 tcacgccgcggtgcgactgaggcgtggcgtctgctggggcacctgaaggagacttggggg       c.-61

 .         .         .         .         .         .                g.5145
 cacccgcgtcgtgcctcctgggttgtgaggagtcgccgctgccgccactgcctgtgcttc       c.-1

          .         .         .         .         .        | 02.    g.10422
 ATGAGGAAGATGCTCGCCGCCGTCTCCCGCGTGCTGTCTGGCGCTTCTCAGAAGCCG | GCA    c.60
 M  R  K  M  L  A  A  V  S  R  V  L  S  G  A  S  Q  K  P   | A      p.20

          .         .         .         .         .        | 03.    g.11047
 AGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAAATGATGCTACATTTGAAATTAAG | AAA    c.120
 S  R  V  L  V  A  S  R  N  F  A  N  D  A  T  F  E  I  K   | K      p.40

          .         .         .         .         .         .       g.11107
 TGTGACCTTCACCGGCTGGAAGAAGGCCCTCCTGTCACAACAGTGCTCACCAGGGAGGAT       c.180
 C  D  L  H  R  L  E  E  G  P  P  V  T  T  V  L  T  R  E  D         p.60

          .         .         .         .         .         .       g.11167
 GGGCTCAAATACTACAGGATGATGCAGACTGTACGCCGAATGGAGTTGAAAGCAGATCAG       c.240
 G  L  K  Y  Y  R  M  M  Q  T  V  R  R  M  E  L  K  A  D  Q         p.80

          .         .         .         .         .  | 04      .    g.12397
 CTGTATAAACAGAAAATTATTCGTGGTTTCTGTCACTTGTGTGATGGTCAG | GAAGCTTGC    c.300
 L  Y  K  Q  K  I  I  R  G  F  C  H  L  C  D  G  Q   | E  A  C      p.100

          .         .         .         .         .         .       g.12457
 TGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCT       c.360
 C  V  G  L  E  A  G  I  N  P  T  D  H  L  I  T  A  Y  R  A         p.120

          .         .         .         .         .         | 05    g.14191
 CACGGCTTTACTTTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAGCTTACAG | GA    c.420
 H  G  F  T  F  T  R  G  L  S  V  R  E  I  L  A  E  L  T  G |       p.140

          .         .         .         .         .         .       g.14251
 CGAAAAGGAGGTTGTGCTAAAGGGAAAGGAGGATCGATGCACATGTATGCCAAGAACTTC       c.480
 R  K  G  G  C  A  K  G  K  G  G  S  M  H  M  Y  A  K  N  F         p.160

          .         .         . | 06       .         .         .    g.15628
 TACGGGGGCAATGGCATCGTGGGAGCGCAG | GTGCCCCTGGGCGCTGGGATTGCTCTAGCC    c.540
 Y  G  G  N  G  I  V  G  A  Q   | V  P  L  G  A  G  I  A  L  A      p.180

          .         .         .         .         .         .       g.15688
 TGTAAGTATAATGGAAAAGATGAGGTCTGCCTGACTTTATATGGCGATGGTGCTGCTAAC       c.600
 C  K  Y  N  G  K  D  E  V  C  L  T  L  Y  G  D  G  A  A  N         p.200

     | 07    .         .         .         .         .         .    g.16513
 CAG | GGCCAGATATTCGAAGCTTACAACATGGCAGCTTTGTGGAAATTACCTTGTATTTTC    c.660
 Q   | G  Q  I  F  E  A  Y  N  M  A  A  L  W  K  L  P  C  I  F      p.220

          .         .         .         .         .         .       g.16573
 ATCTGTGAGAATAATCGCTATGGAATGGGAACGTCTGTTGAGAGAGCGGCAGCCAGCACT       c.720
 I  C  E  N  N  R  Y  G  M  G  T  S  V  E  R  A  A  A  S  T         p.240

          .         .         .          | 08        .         .    g.16814
 GATTACTACAAGAGAGGCGATTTCATTCCTGGGCTGAGA | GTGGATGGAATGGATATCCTG    c.780
 D  Y  Y  K  R  G  D  F  I  P  G  L  R   | V  D  G  M  D  I  L      p.260

          .         .         .         .         .  | 09      .    g.18768
 TGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTATTGTAGATCTGGGAAG | GGGCCCATC    c.840
 C  V  R  E  A  T  R  F  A  A  A  Y  C  R  S  G  K   | G  P  I      p.280

          .         .         .         .         .          | 10    g.20024
 CTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAG | T    c.900
 L  M  E  L  Q  T  Y  R  Y  H  G  H  S  M  S  D  P  G  V  S  |      p.300

          .         .         .         .         .         .       g.20084
 TACCGTACACGAGAAGAAATTCAGGAAGTAAGAAGTAAGAGTGACCCTATTATGCTTCTC       c.960
 Y  R  T  R  E  E  I  Q  E  V  R  S  K  S  D  P  I  M  L  L         p.320

          .         .         .         .         | 11         .    g.20608
 AAGGACAGGATGGTGAACAGCAATCTTGCCAGTGTGGAAGAACTAAAG | GAAATTGATGTG    c.1020
 K  D  R  M  V  N  S  N  L  A  S  V  E  E  L  K   | E  I  D  V      p.340

          .         .         .         .         .         .       g.20668
 GAAGTGAGGAAGGAGATTGAGGATGCTGCCCAGTTTGCCACGGCCGATCCTGAGCCACCT       c.1080
 E  V  R  K  E  I  E  D  A  A  Q  F  A  T  A  D  P  E  P  P         p.360

          .         .         .         .         .         .       g.20728
 TTGGAAGAGCTGGGCTACCACATCTACTCCAGCGACCCACCTTTTGAAGTTCGTGGTGCC       c.1140
 L  E  E  L  G  Y  H  I  Y  S  S  D  P  P  F  E  V  R  G  A         p.380

          .         .         .                                     g.20761
 AATCAGTGGATCAAGTTTAAGTCAGTCAGTTAA                                  c.1173
 N  Q  W  I  K  F  K  S  V  S  X                                    p.390

          .         .         .         .         .         .       g.20821
 ggggaggagaaggagaggttataccttcagggggctaccagacagtgttctcaacttggt       c.*60

          .         .         .         .         .         .       g.20881
 taaggaggaagaaaacccagtcaatgaaattcaatgaaattcttggaaacttccattaag       c.*120

          .         .         .         .         .         .       g.20941
 tgtgtagattgagcaggtagtaattgcatgcagtttgtacattagtgcattaaaagatga       c.*180

          .         .         .         .         .         .       g.21001
 attattgagtgcttaaagattatttttgacttaaaatagtatactttgaacaaatactct       c.*240

          .         .         .         .         .         .       g.21061
 aattatgaaaaggaagaacaattccttgtatgcctgtttcccctgcccccagccaccttt       c.*300

          .         .         .         .         .         .       g.21121
 ttgggaggagaccattatggcggggcccctcacagcattctaccaaccatagcacccacc       c.*360

          .         .         .         .         .         .       g.21181
 ccgagcagcgctggtgctgcagcctgttcgcgctgaccatttctctacaagatacaatat       c.*420

          .         .         .         .         .         .       g.21241
 ttattatcaggcaagaggacagttccattttaaaataagacttttgtaatcattccaatt       c.*480

          .         .         .         .         .         .       g.21301
 ttgtaatcatttcaaaggccacataacttagttttctctacttacacattcagtataaat       c.*540

          .         .         .         .         .         .       g.21361
 atgaagctattttctgttcatatcaaacattaactacaaggcacattcgtatcagttttg       c.*600

          .         .         .         .         .         .       g.21421
 tgtttctcaaattgaagtaccataccagttctgaggcagtgtcccagcttccatgtttgt       c.*660

          .         .         .         .         .         .       g.21481
 taaataccccttgtttgtttcaccattccagcaagtgctgaagggtgtactttttttgag       c.*720

          .         .         .         .         .         .       g.21541
 acagggtcgggctctgttgcccaggctggagtgcagtggtgtgatcatggctcactgcag       c.*780

          .         .         .         .         .         .       g.21601
 cctccacacctcctgggctcaagcaatcctcccacctcagcctcctgcatagctgggact       c.*840

          .         .         .         .         .         .       g.21661
 acaagtgaatttcctaatattccgggaggtcaaaaccaaggctcactgttttcacaatac       c.*900

          .         .         .         .         .         .       g.21721
 acacagttctatgtttataaataacaggtttcaaaagaaactcaggacagtatttaaaac       c.*960

          .         .         .         .         .         .       g.21781
 aagttcttaaactattaattgaacaatggcatttttaaatatgtaaacacagcggaattc       c.*1020

          .         .         .         .         .         .       g.21841
 gtgtatacactaacagaagctttaacaaaacatgtagcgtggtgggacactctgccacag       c.*1080

          .         .         .         .         .         .       g.21901
 cttagctgattggtatcaagccttgtctttggtttctgaggcctcctgagcccttctgta       c.*1140

          .         .         .         .         .         .       g.21961
 ctgggagaccgcactccagagtctgcagaggagaccacccctgggaaacaaacacagctg       c.*1200

          .         .         .         .         .         .       g.22021
 tcttcagagtcagtgcttcaagccaacagagcttaaaactgcagtccctaatttaaaaac       c.*1260

          .         .         .         .         .         .       g.22081
 ctaatgaaaataaaaacattctcctcacatatggaggtgacgctcgtgtcccagcagtag       c.*1320

          .         .         .         .         .         .       g.22141
 taggacatggccttagaggtacgtacctgcagagagctggctatttcaaatgactcggga       c.*1380

          .         .         .         .         .         .       g.22201
 acaagaaggcaggctgcagtttaaagaagggggtgggtccagcgtgcaggcacgcttgcc       c.*1440

          .         .         .         .         .         .       g.22261
 atgtgcctccacccactcccagccaggcattaatggcaggagattggccagctcttctct       c.*1500

          .         .         .         .         .         .       g.22321
 gtcacattcctatttctgacttctgcctggctttcagtttctgccccaccttggcttttt       c.*1560

          .         .         .         .         .         .       g.22381
 cccagcttgaacctaatagaactccagagtttggggggaggcccagccctttgttttctg       c.*1620

          .         .         .         .         .         .       g.22441
 ctcttgaagcatattcacacataaaaagttgtattctcttatacaaactgttttgaggct       c.*1680

          .         .         .         .         .         .       g.22501
 cttaccgtagtcgaaggtatcttagatcttccttagtgatctcattaagaatatccgaaa       c.*1740

          .         .         .         .         .         .       g.22561
 gtgtataaccctcttcaacaatctgaaacaaagatcagatccttaagagctgagcagctg       c.*1800

          .         .         .         .         .         .       g.22621
 tgtaacaacagcataagaatttctttgttgtaaatttaccttttcaattgtctttgcatc       c.*1860

          .         .         .         .         .         .       g.22681
 agctccttgcagccgcaaccagtctataagctctttatctgttctctgcccgtaggggcc       c.*1920

          .         .         .         .         .         .       g.22741
 tgctgggttctctgtaatacctgtaacgattggcaatttgttatatattagtctaaccat       c.*1980

          .         .         .         .         .         .       g.22801
 aaaactcttcaaaagtaaccagttggattaataaatgattccagaatgtaaatgtgatgt       c.*2040

          .                                                         g.22815
 gaaaaagagatgaa                                                     c.*2054

 (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 (lipoamide) alpha 1 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.