electron-transfer-flavoprotein, beta polypeptide (ETFB) - coding DNA reference sequence

(used for variant description)

(last modified March 2, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_001014763.1 in the ETFB gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007115.1, covering ETFB transcript NM_001014763.1.

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

 (upstream sequence)
                                         .         .                g.16600
                                     aaagaacaaaaggcttctgtgctg       c.-181

 .         .         .         .         .         .                g.16660
 ggcagcttgagttttccccaggctgctctattgttgcctgtagctgtgatttttcaggca       c.-121

 .         .         .         .         .         .                g.16720
 ggctgctcctctgaggaccacccttaactgtctacctaactggtttttccttttcttctc       c.-61

 .         .         .         .         .         .                g.16780
 ctcatttgtatttatgtatcagtgtattatgtatttatatacacttggagatacagtaaa       c.-1

          .         .         .         .         .         .       g.16840
 ATGTACCTCTCACTGTGGGTTACCATAAATACTGTAAATTTGAGAAACACTCTTTCAGGC       c.60
 M  Y  L  S  L  W  V  T  I  N  T  V  N  L  R  N  T  L  S  G         p.20

          .         .         .         .         .         .       g.16900
 CTGAGAGGAGCAGTGACAACAGTAGGGATGATCAAGTCAGATGTCCCTGGTACCCAGGAA       c.120
 L  R  G  A  V  T  T  V  G  M  I  K  S  D  V  P  G  T  Q  E         p.40

          .         .         .         .         .         .       g.16960
 TGGCTGGATGAGAGAAGGAGACAGGGTGACCTGCCCCTGCCTACAAACTCTAACCCAGTT       c.180
 W  L  D  E  R  R  R  Q  G  D  L  P  L  P  T  N  S  N  P  V         p.60

          .         .         .         .         .         .       g.17020
 CTGTCCCTGGAGCTGTGTGACCCCGGACAAGGCCCTGCCCCTTTCCAGGCTGTCGTTGTC       c.240
 L  S  L  E  L  C  D  P  G  Q  G  P  A  P  F  Q  A  V  V  V         p.80

          .         .         .         .         .         .       g.17080
 CTCATCCAGCCTGGGAGAGGGTTGGCGCTGAGGCCCCCACCTTCTTGCCTGTTTCCTCCT       c.300
 L  I  Q  P  G  R  G  L  A  L  R  P  P  P  S  C  L  F  P  P         p.100

          .         .         .         .         .         .       g.17140
 GACCCCACCCCTTCCCCTCCTGCTGGGCAGATCCGAGTGAAGCCTGACAGGACCGGTGTG       c.360
 D  P  T  P  S  P  P  A  G  Q  I  R  V  K  P  D  R  T  G  V         p.120

          .         .         .         .         .         .       g.17200
 GTCACGGATGGTGTGAAGCACTCCATGAACCCCTTCTGTGAGATCGCGGTGGAGGAGGCT       c.420
 V  T  D  G  V  K  H  S  M  N  P  F  C  E  I  A  V  E  E  A         p.140

          .         .         .         .         .         .       g.17260
 GTGCGGCTCAAGGAGAAGAAGCTGGTGAAGGAGGTCATCGCCGTCAGCTGTGGGCCTGCA       c.480
 V  R  L  K  E  K  K  L  V  K  E  V  I  A  V  S  C  G  P  A         p.160

           | 02        .         .         .         .         .    g.18179
 CAGTGCCAG | GAGACGATTCGTACCGCCCTGGCCATGGGTGCAGACCGAGGTATCCACGTG    c.540
 Q  C  Q   | E  T  I  R  T  A  L  A  M  G  A  D  R  G  I  H  V      p.180

          .         .         .         .         .         .       g.18239
 GAGGTGCCCCCAGCAGAAGCAGAACGCTTGGGTCCCCTGCAGGTGGCTCGGGTCCTGGCC       c.600
 E  V  P  P  A  E  A  E  R  L  G  P  L  Q  V  A  R  V  L  A         p.200

          .         .         .         .         | 03         .    g.21039
 AAGCTGGCAGAGAAGGAGAAGGTGGACCTGGTGCTGCTGGGCAAACAG | GCCATCGATGAT    c.660
 K  L  A  E  K  E  K  V  D  L  V  L  L  G  K  Q   | A  I  D  D      p.220

          .         .         .         .         .  | 04      .    g.24369
 GACTGTAACCAGACAGGGCAGATGACAGCTGGATTTCTTGACTGGCCACAG | GGCACATTC    c.720
 D  C  N  Q  T  G  Q  M  T  A  G  F  L  D  W  P  Q   | G  T  F      p.240

          .         .         .         .         .         .       g.24429
 GCCTCCCAGGTGACGCTGGAGGGGGACAAGTTGAAAGTGGAGCGGGAGATCGATGGGGGC       c.780
 A  S  Q  V  T  L  E  G  D  K  L  K  V  E  R  E  I  D  G  G         p.260

          .         .         .         .         .         .       g.24489
 CTGGAGACCCTGCGCCTGAAGCTGCCAGCTGTGGTGACAGCTGACCTGAGGCTCAACGAG       c.840
 L  E  T  L  R  L  K  L  P  A  V  V  T  A  D  L  R  L  N  E         p.280

          .         .         . | 05       .         .         .    g.26067
 CCCCGCTACGCCACGCTGCCCAACATCATG | AAAGCCAAGAAGAAGAAGATCGAGGTGATC    c.900
 P  R  Y  A  T  L  P  N  I  M   | K  A  K  K  K  K  I  E  V  I      p.300

          .         .         .         .         .         .       g.26127
 AAGCCTGGGGACCTGGGTGTGGACCTGACCTCCAAGCTCTCTGTGATCAGTGTGGAGGAC       c.960
 K  P  G  D  L  G  V  D  L  T  S  K  L  S  V  I  S  V  E  D         p.320

          .         .         .         .         .         .       g.26187
 CCGCCCCAGCGCACGGCCGGCGTCAAGGTGGAGACCACTGAGGACCTGGTGGCCAAGCTG       c.1020
 P  P  Q  R  T  A  G  V  K  V  E  T  T  E  D  L  V  A  K  L         p.340

          .         .                                               g.26208
 AAGGAGATTGGGCGGATTTGA                                              c.1041
 K  E  I  G  R  I  X                                                p.346

          .         .         .         .         .                 g.26264
 gcccctcccagagatggcaataaaactgactctcaacatctatctctgttaactta           c.*56

 (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 Electron-transfer-flavoprotein, beta 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.