pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2) - coding DNA reference sequence

(used for variant description)

(last modified November 15, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_005390.4 in the PDHA2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000004.11, covering PDHA2 transcript NM_005390.4.

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

 (upstream sequence)
                                                                    g.5003
                                                          agg       c.-61

 .         .         .         .         .         .                g.5063
 ccaggccttccggcggtcgttacgggacgccgctgccatctacagcactccgtgaagaat       c.-1

          .         .         .         .         .         .       g.5123
 ATGCTGGCCGCCTTCATCTCCCGCGTGTTGAGGCGAGTTGCCCAGAAATCAGCTCGCAGA       c.60
 M  L  A  A  F  I  S  R  V  L  R  R  V  A  Q  K  S  A  R  R         p.20

          .         .         .         .         .         .       g.5183
 GTGCTGGTGGCATCCCGTAACTCCTCAAATGACGCTACATTTGAAATTAAGAAATGTGAT       c.120
 V  L  V  A  S  R  N  S  S  N  D  A  T  F  E  I  K  K  C  D         p.40

          .         .         .         .         .         .       g.5243
 CTTTATCTGTTGGAAGAGGGTCCCCCTGTCACTACAGTGCTCACTAGGGCGGAGGGGCTT       c.180
 L  Y  L  L  E  E  G  P  P  V  T  T  V  L  T  R  A  E  G  L         p.60

          .         .         .         .         .         .       g.5303
 AAATACTACAGGATGATGCTGACTGTTCGCCGCATGGAATTGAAGGCAGATCAGCTGTAC       c.240
 K  Y  Y  R  M  M  L  T  V  R  R  M  E  L  K  A  D  Q  L  Y         p.80

          .         .         .         .         .         .       g.5363
 AAACAGAAATTCATTCGCGGTTTCTGTCACCTGTGCGATGGTCAGGAAGCTTGTTGCGTG       c.300
 K  Q  K  F  I  R  G  F  C  H  L  C  D  G  Q  E  A  C  C  V         p.100

          .         .         .         .         .         .       g.5423
 GGCCTTGAGGCCGGCATAAACCCCTCGGATCACGTCATTACATCCTATAGGGCTCATGGT       c.360
 G  L  E  A  G  I  N  P  S  D  H  V  I  T  S  Y  R  A  H  G         p.120

          .         .         .         .         .         .       g.5483
 GTGTGCTATACTCGGGGACTTTCTGTCCGATCCATTCTCGCAGAGCTGACGGGAAGAAGA       c.420
 V  C  Y  T  R  G  L  S  V  R  S  I  L  A  E  L  T  G  R  R         p.140

          .         .         .         .         .         .       g.5543
 GGAGGTTGTGCTAAAGGAAAAGGAGGATCGATGCATATGTATACCAAGAACTTCTATGGG       c.480
 G  G  C  A  K  G  K  G  G  S  M  H  M  Y  T  K  N  F  Y  G         p.160

          .         .         .         .         .         .       g.5603
 GGCAATGGCATCGTCGGTGCACAGGGCCCCCTGGGCGCTGGCATTGCTCTGGCCTGTAAA       c.540
 G  N  G  I  V  G  A  Q  G  P  L  G  A  G  I  A  L  A  C  K         p.180

          .         .         .         .         .         .       g.5663
 TATAAAGGAAACGATGAGATCTGTTTGACTTTATATGGGGATGGCGCTGCGAATCAGGGG       c.600
 Y  K  G  N  D  E  I  C  L  T  L  Y  G  D  G  A  A  N  Q  G         p.200

          .         .         .         .         .         .       g.5723
 CAGATAGCCGAAGCTTTCAATATGGCAGCTTTATGGAAATTACCTTGTGTTTTCATCTGT       c.660
 Q  I  A  E  A  F  N  M  A  A  L  W  K  L  P  C  V  F  I  C         p.220

          .         .         .         .         .         .       g.5783
 GAGAATAACCTATATGGAATGGGAACATCTACTGAGAGAGCAGCAGCCAGCCCTGATTAC       c.720
 E  N  N  L  Y  G  M  G  T  S  T  E  R  A  A  A  S  P  D  Y         p.240

          .         .         .         .         .         .       g.5843
 TACAAGAGGGGCAATTTTATCCCTGGGCTAAAGGTCGATGGAATGGATGTTCTGTGTGTT       c.780
 Y  K  R  G  N  F  I  P  G  L  K  V  D  G  M  D  V  L  C  V         p.260

          .         .         .         .         .         .       g.5903
 CGTGAGGCAACAAAATTTGCAGCTAACTACTGTAGATCTGGAAAGGGGCCCATACTGATG       c.840
 R  E  A  T  K  F  A  A  N  Y  C  R  S  G  K  G  P  I  L  M         p.280

          .         .         .         .         .         .       g.5963
 GAGCTGCAAACCTACCGTTATCATGGACACAGTATGAGTGATCCTGGAGTCAGTTATCGT       c.900
 E  L  Q  T  Y  R  Y  H  G  H  S  M  S  D  P  G  V  S  Y  R         p.300

          .         .         .         .         .         .       g.6023
 ACACGAGAAGAAATTCAGGAAGTAAGAAGTAAGAGGGATCCTATAATAATTCTCCAAGAT       c.960
 T  R  E  E  I  Q  E  V  R  S  K  R  D  P  I  I  I  L  Q  D         p.320

          .         .         .         .         .         .       g.6083
 AGAATGGTAAACAGCAAGCTCGCCACTGTGGAAGAATTAAAGGAAATTGGGGCTGAGGTG       c.1020
 R  M  V  N  S  K  L  A  T  V  E  E  L  K  E  I  G  A  E  V         p.340

          .         .         .         .         .         .       g.6143
 AGGAAAGAAATTGATGATGCTGCCCAGTTTGCTACCACTGATCCTGAGCCACATTTGGAA       c.1080
 R  K  E  I  D  D  A  A  Q  F  A  T  T  D  P  E  P  H  L  E         p.360

          .         .         .         .         .         .       g.6203
 GAATTAGGCCATCACATCTACAGCAGTGATTCATCTTTTGAAGTTCGTGGTGCAAATCCA       c.1140
 E  L  G  H  H  I  Y  S  S  D  S  S  F  E  V  R  G  A  N  P         p.380

          .         .                                               g.6230
 TGGATCAAGTTTAAGTCCGTCAGTTAA                                        c.1167
 W  I  K  F  K  S  V  S  X                                          p.388

          .         .         .         .         .         .       g.6290
 agggaggctacgtgtgaatttatcatcagtctctcaatggaatgttcatggtcaaattta       c.*60

          .         .         .         .         .         .       g.6350
 agaaactgtgttctcaactcaaggaggaataaaactcataaaacaaaagccttgtaagca       c.*120

          .         .         .                                     g.6387
 tttattaaaagagattattaaaagagattgaaagaca                              c.*157

 (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 2 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.