pyruvate dehydrogenase (lipoamide) beta (PDHB) - 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_000925.3 in the PDHB gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016860.1, covering PDHB transcript NM_000925.3.

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

 (upstream sequence)
                     .         .         .         .                g.5043
                  cccctctgttgtcgtttggcagcggatagaggacacgaccaag       c.-1

          .         .         .         .   | 02     .         .    g.5186
 ATGGCGGCGGTGTCTGGCTTGGTGCGGAGACCCCTTCGGGAG | GTCTCCGGGCTGCTGAAG    c.60
 M  A  A  V  S  G  L  V  R  R  P  L  R  E   | V  S  G  L  L  K      p.20

          .         .         .       | 03 .         .         .    g.6892
 AGGCGCTTTCACTGGACCGCGCCGGCTGCGCTGCAG | GTGACAGTTCGTGATGCTATAAAT    c.120
 R  R  F  H  W  T  A  P  A  A  L  Q   | V  T  V  R  D  A  I  N      p.40

          .         .         .         .         .         .       g.6952
 CAGGGTATGGATGAGGAGCTGGAAAGAGATGAGAAGGTATTTCTGCTTGGAGAAGAAGTT       c.180
 Q  G  M  D  E  E  L  E  R  D  E  K  V  F  L  L  G  E  E  V         p.60

          .         .     | 04   .         .         .         .    g.7095
 GCCCAGTATGATGGGGCATACAAG | GTTAGTCGAGGGCTGTGGAAGAAATATGGAGACAAG    c.240
 A  Q  Y  D  G  A  Y  K   | V  S  R  G  L  W  K  K  Y  G  D  K      p.80

          .         .        | 05.         .         .         .    g.7257
 AGGATTATTGACACTCCCATATCAGAG | ATGGGCTTTGCTGGAATTGCTGTAGGTGCAGCT    c.300
 R  I  I  D  T  P  I  S  E   | M  G  F  A  G  I  A  V  G  A  A      p.100

     | 06    .         .         .         .         .         .    g.7967
 ATG | GCTGGGTTGCGGCCCATTTGTGAATTTATGACCTTCAATTTCTCCATGCAAGCCATT    c.360
 M   | A  G  L  R  P  I  C  E  F  M  T  F  N  F  S  M  Q  A  I      p.120

          .         .         .         .         .         .       g.8027
 GACCAGGTTATAAACTCAGCTGCCAAGACCTACTACATGTCTGGTGGCCTTCAGCCTGTG       c.420
 D  Q  V  I  N  S  A  A  K  T  Y  Y  M  S  G  G  L  Q  P  V         p.140

          .         .         .         .         .         .       g.8087
 CCTATAGTCTTCAGGGGGCCCAATGGTGCCTCAGCAGGTGTAGCTGCCCAGCACTCACAG       c.480
 P  I  V  F  R  G  P  N  G  A  S  A  G  V  A  A  Q  H  S  Q         p.160

          .         .         .         .         .         .       g.8147
 TGCTTTGCTGCCTGGTATGGGCACTGCCCAGGCTTAAAGGTGGTCAGTCCCTGGAATTCA       c.540
 C  F  A  A  W  Y  G  H  C  P  G  L  K  V  V  S  P  W  N  S         p.180

          .         .         .         .          | 07        .    g.8625
 GAGGATGCTAAAGGACTTATTAAATCAGCCATTCGGGATAACAATCCAG | TGGTGGTGCTA    c.600
 E  D  A  K  G  L  I  K  S  A  I  R  D  N  N  P  V |   V  V  L      p.200

          .         .         .         .         .         .       g.8685
 GAGAATGAATTGATGTATGGGGTTCCTTTTGAATTTCCTCCGGAAGCTCAGTCAAAAGAT       c.660
 E  N  E  L  M  Y  G  V  P  F  E  F  P  P  E  A  Q  S  K  D         p.220

          .         .         .         . | 08       .         .    g.9073
 TTTCTGATTCCTATTGGAAAAGCCAAAATAGAAAGGCAAG | GAACACATATAACTGTGGTT    c.720
 F  L  I  P  I  G  K  A  K  I  E  R  Q  G |   T  H  I  T  V  V      p.240

          .         .         .         .         .         .       g.9133
 TCCCATTCAAGACCTGTGGGCCACTGCTTAGAAGCTGCAGCAGTGCTATCTAAAGAAGGA       c.780
 S  H  S  R  P  V  G  H  C  L  E  A  A  A  V  L  S  K  E  G         p.260

          .   | 09     .         .         .         .         .    g.10286
 GTTGAATGTGAG | GTGATAAATATGCGTACCATTAGACCAATGGACATGGAAACCATAGAA    c.840
 V  E  C  E   | V  I  N  M  R  T  I  R  P  M  D  M  E  T  I  E      p.280

          .         .         .         .         .         .       g.10346
 GCCAGTGTCATGAAGACAAATCATCTTGTAACTGTGGAAGGAGGCTGGCCACAGTTTGGA       c.900
 A  S  V  M  K  T  N  H  L  V  T  V  E  G  G  W  P  Q  F  G         p.300

          .         .         .     | 10   .         .         .    g.10699
 GTAGGAGCTGAAATCTGTGCCAGGATCATGGAAG | GTCCTGCGTTCAATTTCCTGGATGCT    c.960
 V  G  A  E  I  C  A  R  I  M  E  G |   P  A  F  N  F  L  D  A      p.320

          .         .         .         .         .         .       g.10759
 CCTGCTGTTCGTGTCACTGGTGCTGATGTCCCTATGCCTTATGCAAAGATTCTAGAGGAC       c.1020
 P  A  V  R  V  T  G  A  D  V  P  M  P  Y  A  K  I  L  E  D         p.340

          .         .         .         .         .         .       g.10819
 AACTCTATACCTCAGGTCAAAGACATCATATTTGCAATAAAGAAAACATTAAATATTTAG       c.1080
 N  S  I  P  Q  V  K  D  I  I  F  A  I  K  K  T  L  N  I  X         p.359

          .         .         .         .         .         .       g.10879
 tttggacttgaatatcaagtcgttgaaatttatttgaaatacttgctggcactgcacctg       c.*60

          .         .         .         .         .         .       g.10939
 gatttgtactgcaagacctgactattcataacggaaaacgatttctaaagcaacagcagg       c.*120

          .         .         .         .         .         .       g.10999
 tatttttgtacagggaagtttaaatgtgtttgtgtatggaaaactctccactctcctccc       c.*180

          .         .         .         .         .         .       g.11059
 ctagatgccatgcttccttttgtctgttacggttgccatgttctttgaataacaaattat       c.*240

          .         .         .         .         .         .       g.11119
 ataacattttatcctctctcaccacaaggacaaagtatggatgtggcagagtcctcatga       c.*300

          .         .         .         .         .         .       g.11179
 aagatgtatccaaacaagataacttatatgtataaaattaaagcatataatatacattta       c.*360

          .         .         .         .                           g.11223
 ctgttagtttgttttgataaggaataaaggaatttctaacatga                       c.*404

 (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) beta 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.