branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA) - coding DNA reference sequence

(used for variant description)

(last modified October 11, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_000709.3 in the BCKDHA gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_013004.1, covering BCKDHA transcript NM_000709.3.

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

 (upstream sequence)
                               .         .         .                g.5039
                      ctacgtgagtgccggaccgctgagtggttgttagccaag       c.-1

          .         .         .         .         .         .       g.5099
 ATGGCGGTAGCGATCGCTGCAGCGAGGGTCTGGCGGCTAAACCGTGGTTTGAGCCAGGCT       c.60
 M  A  V  A  I  A  A  A  R  V  W  R  L  N  R  G  L  S  Q  A         p.20

          .         .         .         .         | 02         .    g.17860
 GCCCTCCTGCTGCTGCGGCAGCCTGGGGCTCGGGGACTGGCTAGATCT | CACCCCCCCAGG    c.120
 A  L  L  L  L  R  Q  P  G  A  R  G  L  A  R  S   | H  P  P  R      p.40

          .         .         .         .         .         .       g.17920
 CAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAG       c.180
 Q  Q  Q  Q  F  S  S  L  D  D  K  P  Q  F  P  G  A  S  A  E         p.60

          .         .         .         .         .         .       g.17980
 TTTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGC       c.240
 F  I  D  K  L  E  F  I  Q  P  N  V  I  S  G  I  P  I  Y  R         p.80

          .         .         .         .         | 03         .    g.18146
 GTCATGGACCGGCAAGGCCAGATCATCAACCCCAGCGAGGACCCCCAC | CTGCCGAAGGAG    c.300
 V  M  D  R  Q  G  Q  I  I  N  P  S  E  D  P  H   | L  P  K  E      p.100

          .         .         .         .         .         .       g.18206
 AAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTAT       c.360
 K  V  L  K  L  Y  K  S  M  T  L  L  N  T  M  D  R  I  L  Y         p.120

          .      | 04  .         .         .         .         .    g.21305
 GAGTCTCAGCGGCAG | GGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACG    c.420
 E  S  Q  R  Q   | G  R  I  S  F  Y  M  T  N  Y  G  E  E  G  T      p.140

          .         .         .         .         .         .       g.21365
 CACGTGGGGAGTGCCGCCGCCCTGGACAACACGGACCTGGTGTTTGGCCAGTACCGGGAG       c.480
 H  V  G  S  A  A  A  L  D  N  T  D  L  V  F  G  Q  Y  R  E         p.160

      | 05   .         .         .         .         .         .    g.26402
 GCAG | GTGTGCTGATGTATCGGGACTACCCCCTGGAACTATTCATGGCCCAGTGCTATGGC    c.540
 A  G |   V  L  M  Y  R  D  Y  P  L  E  L  F  M  A  Q  C  Y  G      p.180

          .         .         .         .         .         .       g.26462
 AACATCAGTGACTTGGGCAAGGGGCGCCAGATGCCTGTCCACTACGGCTGCAAGGAACGC       c.600
 N  I  S  D  L  G  K  G  R  Q  M  P  V  H  Y  G  C  K  E  R         p.200

          .         .         .         .       | 06 .         .    g.29389
 CACTTCGTCACTATCTCCTCTCCACTGGCCACGCAGATCCCTCAGG | CGGTGGGGGCGGCG    c.660
 H  F  V  T  I  S  S  P  L  A  T  Q  I  P  Q  A |   V  G  A  A      p.220

          .         .         .         .         .         .       g.29449
 TACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCA       c.720
 Y  A  A  K  R  A  N  A  N  R  V  V  I  C  Y  F  G  E  G  A         p.240

          .         .         .         .         .         .       g.29509
 GCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATC       c.780
 A  S  E  G  D  A  H  A  G  F  N  F  A  A  T  L  E  C  P  I         p.260

          .         .         .         .         .         .       g.29569
 ATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGC       c.840
 I  F  F  C  R  N  N  G  Y  A  I  S  T  P  T  S  E  Q  Y  R         p.280

          .    | 07    .         .         .         .         .    g.29887
 GGCGATGGCATTG | CAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGT    c.900
 G  D  G  I  A |   A  R  G  P  G  Y  G  I  M  S  I  R  V  D  G      p.300

          .         .         .         .         .         .       g.29947
 AATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAG       c.960
 N  D  V  F  A  V  Y  N  A  T  K  E  A  R  R  R  A  V  A  E         p.320

          .         .         .      | 08  .         .         .    g.30234
 AACCAGCCCTTCCTCATCGAGGCCATGACCTACAG | GATCGGGCACCACAGCACCAGTGAC    c.1020
 N  Q  P  F  L  I  E  A  M  T  Y  R  |  I  G  H  H  S  T  S  D      p.340

          .         .         .         .         .         .       g.30294
 GACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCC       c.1080
 D  S  S  A  Y  R  S  V  D  E  V  N  Y  W  D  K  Q  D  H  P         p.360

          .         .         .         .         .         .       g.30354
 ATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAG       c.1140
 I  S  R  L  R  H  Y  L  L  S  Q  G  W  W  D  E  E  Q  E  K         p.380

          .         .        | 09.         .         .         .    g.31682
 GCCTGGAGGAAGCAGTCCCGCAGGAAG | GTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAG    c.1200
 A  W  R  K  Q  S  R  R  K   | V  M  E  A  F  E  Q  A  E  R  K      p.400

          .         .         .         .         .         .       g.31742
 CCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTC       c.1260
 P  K  P  N  P  N  L  L  F  S  D  V  Y  Q  E  M  P  A  Q  L         p.420

          .         .         .         .         .         .       g.31802
 CGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTG       c.1320
 R  K  Q  Q  E  S  L  A  R  H  L  Q  T  Y  G  E  H  Y  P  L         p.440

          .                                                         g.31820
 GATCACTTCGATAAGTGA                                                 c.1338
 D  H  F  D  K  X                                                   p.445

          .         .         .         .         .         .       g.31880
 gacctgctcagcccacccccacccatcctcagctaccccgagaggtagccccactctaag       c.*60

          .         .         .         .         .         .       g.31940
 gggagcagggggacctgacagcacaccactgtcttccccagtcagctccctctaaaatac       c.*120

          .         .         .         .         .         .       g.32000
 tcagcggccagggcggctgccactcttcacccctgctcctcccggctgttacattgtcag       c.*180

          .         .         .         .         .         .       g.32060
 gggacagcatctgcagcagttgctgaggctccgtcagccccctcttcacctgttgttaca       c.*240

          .         .         .         .         .         .       g.32120
 gtgccttctcccaggggctgggtgagggcacattcaggactagaagcccctctgggcatg       c.*300

          .         .         .         .         .         .       g.32180
 gggtggacatggcaggtcagcctgtggaacttgcgcaggtgcgagtggccagcagaggtc       c.*360

          .         .         .                                     g.32217
 acgaataaactgcatctctgcgcctggctctctacca                              c.*397

 (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 Branched chain keto acid dehydrogenase E1, alpha polypeptide 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.