electron-transfer-flavoprotein, beta polypeptide (ETFB) - 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_001985.2 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_001985.2.

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

 (upstream sequence)
                               .         .         .                g.5032
                             gcagagaggggcgcggggggcgggggtggtgg       c.-61

 .         .         .         .         .         .                g.5092
 ggcttctggactgagccgctgagggtgcgggctgaccctgtaagtggctgcggcgggaag       c.-1

          .         .         .         .         .        | 02.    g.17113
 ATGGCGGAGCTGCGCGTGCTCGTAGCTGTCAAGAGGGTCATCGACTACGCCGTGAAG | ATC    c.60
 M  A  E  L  R  V  L  V  A  V  K  R  V  I  D  Y  A  V  K   | I      p.20

          .         .         .         .         .         .       g.17173
 CGAGTGAAGCCTGACAGGACCGGTGTGGTCACGGATGGTGTGAAGCACTCCATGAACCCC       c.120
 R  V  K  P  D  R  T  G  V  V  T  D  G  V  K  H  S  M  N  P         p.40

          .         .         .         .         .         .       g.17233
 TTCTGTGAGATCGCGGTGGAGGAGGCTGTGCGGCTCAAGGAGAAGAAGCTGGTGAAGGAG       c.180
 F  C  E  I  A  V  E  E  A  V  R  L  K  E  K  K  L  V  K  E         p.60

          .         .         .       | 03 .         .         .    g.18152
 GTCATCGCCGTCAGCTGTGGGCCTGCACAGTGCCAG | GAGACGATTCGTACCGCCCTGGCC    c.240
 V  I  A  V  S  C  G  P  A  Q  C  Q   | E  T  I  R  T  A  L  A      p.80

          .         .         .         .         .         .       g.18212
 ATGGGTGCAGACCGAGGTATCCACGTGGAGGTGCCCCCAGCAGAAGCAGAACGCTTGGGT       c.300
 M  G  A  D  R  G  I  H  V  E  V  P  P  A  E  A  E  R  L  G         p.100

          .         .         .         .         .         .       g.18272
 CCCCTGCAGGTGGCTCGGGTCCTGGCCAAGCTGGCAGAGAAGGAGAAGGTGGACCTGGTG       c.360
 P  L  Q  V  A  R  V  L  A  K  L  A  E  K  E  K  V  D  L  V         p.120

          .      | 04  .         .         .         .         .    g.21072
 CTGCTGGGCAAACAG | GCCATCGATGATGACTGTAACCAGACAGGGCAGATGACAGCTGGA    c.420
 L  L  G  K  Q   | A  I  D  D  D  C  N  Q  T  G  Q  M  T  A  G      p.140

          .         | 05         .         .         .         .    g.24402
 TTTCTTGACTGGCCACAG | GGCACATTCGCCTCCCAGGTGACGCTGGAGGGGGACAAGTTG    c.480
 F  L  D  W  P  Q   | G  T  F  A  S  Q  V  T  L  E  G  D  K  L      p.160

          .         .         .         .         .         .       g.24462
 AAAGTGGAGCGGGAGATCGATGGGGGCCTGGAGACCCTGCGCCTGAAGCTGCCAGCTGTG       c.540
 K  V  E  R  E  I  D  G  G  L  E  T  L  R  L  K  L  P  A  V         p.180

          .         .         .         .         .        | 06.    g.26040
 GTGACAGCTGACCTGAGGCTCAACGAGCCCCGCTACGCCACGCTGCCCAACATCATG | AAA    c.600
 V  T  A  D  L  R  L  N  E  P  R  Y  A  T  L  P  N  I  M   | K      p.200

          .         .         .         .         .         .       g.26100
 GCCAAGAAGAAGAAGATCGAGGTGATCAAGCCTGGGGACCTGGGTGTGGACCTGACCTCC       c.660
 A  K  K  K  K  I  E  V  I  K  P  G  D  L  G  V  D  L  T  S         p.220

          .         .         .         .         .         .       g.26160
 AAGCTCTCTGTGATCAGTGTGGAGGACCCGCCCCAGCGCACGGCCGGCGTCAAGGTGGAG       c.720
 K  L  S  V  I  S  V  E  D  P  P  Q  R  T  A  G  V  K  V  E         p.240

          .         .         .         .                           g.26208
 ACCACTGAGGACCTGGTGGCCAAGCTGAAGGAGATTGGGCGGATTTGA                   c.768
 T  T  E  D  L  V  A  K  L  K  E  I  G  R  I  X                     p.255

          .         .         .         .         .                 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.