succinate dehydrogenase complex, subunit B, iron sulfur (Ip) (SDHB) - coding DNA reference sequence

(used for variant description)

(last modified August 19, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_003000.2 in the SDHB gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012340.1, covering SDHB transcript NM_003000.2.

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

 (upstream sequence)
                               .         .         .                g.5031
                              acccgggaaaccggaagccgcctcccacttg       c.-121

 .         .         .         .         .         .                g.5091
 gttgctcgtacgcggctagtgggtcctcagtggatgtaggctgggcgccgcgatgttcga       c.-61

 .         .         .         .         .         .                g.5151
 cgggacaccggcggagagcgacctcggggttaaggggtggggctgacgtcaggagccaag       c.-1

          .         .         .         .         .         .       g.5211
 ATGGCGGCGGTGGTCGCCCTCTCCTTGAGGCGCCGGTTGCCGGCCACAACCCTTGGCGGA       c.60
 M  A  A  V  V  A  L  S  L  R  R  R  L  P  A  T  T  L  G  G         p.20

          .   | 02     .         .         .         .         .    g.14330
 GCCTGCCTGCAG | GCCTCCCGAGGAGCCCAGACAGCTGCAGCCACAGCTCCCCGTATCAAG    c.120
 A  C  L  Q   | A  S  R  G  A  Q  T  A  A  A  T  A  P  R  I  K      p.40

          .         .         .         .         .         .       g.14390
 AAATTTGCCATCTATCGATGGGACCCAGACAAGGCTGGAGACAAACCTCATATGCAGACT       c.180
 K  F  A  I  Y  R  W  D  P  D  K  A  G  D  K  P  H  M  Q  T         p.60

          .         . | 03       .         .         .         .    g.26065
 TATGAAGTTGACCTTAATAA | ATGTGGCCCCATGGTATTGGATGCTTTAATCAAGATTAAG    c.240
 Y  E  V  D  L  N  K  |  C  G  P  M  V  L  D  A  L  I  K  I  K      p.80

          .         .         .         .       | 04 .         .    g.30448
 AATGAAGTTGACTCTACTTTGACCTTCCGAAGATCATGCAGAGAAG | GCATCTGTGGCTCT    c.300
 N  E  V  D  S  T  L  T  F  R  R  S  C  R  E  G |   I  C  G  S      p.100

          .         .         .         .         .         .       g.30508
 TGTGCAATGAACATCAATGGAGGCAACACTCTAGCTTGCACCCGAAGGATTGACACCAAC       c.360
 C  A  M  N  I  N  G  G  N  T  L  A  C  T  R  R  I  D  T  N         p.120

          .         .         .         .         .         .       g.30568
 CTCAATAAGGTCTCAAAAATCTACCCTCTTCCACACATGTATGTGATAAAGGATCTTGTT       c.420
 L  N  K  V  S  K  I  Y  P  L  P  H  M  Y  V  I  K  D  L  V         p.140

     | 05    .         .         .         .         .         .    g.31362
 CCC | GATTTGAGCAACTTCTATGCACAGTACAAATCCATTGAGCCTTATTTGAAGAAGAAG    c.480
 P   | D  L  S  N  F  Y  A  Q  Y  K  S  I  E  P  Y  L  K  K  K      p.160

          .         .         .         .         .         .       g.31422
 GATGAATCTCAGGAAGGCAAGCAGCAGTATCTGCAGTCCATAGAAGAGCGTGAGAAACTG       c.540
 D  E  S  Q  E  G  K  Q  Q  Y  L  Q  S  I  E  E  R  E  K  L         p.180

  | 06       .         .         .         .         .         .    g.35156
  | GACGGGCTCTACGAGTGCATTCTCTGTGCCTGCTGTAGCACCAGCTGCCCCAGCTACTGG    c.600
  | D  G  L  Y  E  C  I  L  C  A  C  C  S  T  S  C  P  S  Y  W      p.200

          .         .         .         .   | 07     .         .    g.36458
 TGGAACGGAGACAAATATCTGGGGCCTGCAGTTCTTATGCAG | GCCTATCGCTGGATGATT    c.660
 W  N  G  D  K  Y  L  G  P  A  V  L  M  Q   | A  Y  R  W  M  I      p.220

          .         .         .         .         .         .       g.36518
 GACTCCAGAGATGACTTCACAGAGGAGCGCCTGGCCAAGCTGCAGGACCCATTCTCTCTA       c.720
 D  S  R  D  D  F  T  E  E  R  L  A  K  L  Q  D  P  F  S  L         p.240

          .         .         .         .      | 08  .         .    g.40227
 TACCGCTGCCACACCATCATGAACTGCACAAGGACCTGTCCTAAG | GGTCTGAATCCAGGG    c.780
 Y  R  C  H  T  I  M  N  C  T  R  T  C  P  K   | G  L  N  P  G      p.260

          .         .         .         .         .         .       g.40287
 AAAGCTATTGCAGAGATCAAGAAAATGATGGCAACCTATAAGGAGAAGAAAGCTTCAGTT       c.840
 K  A  I  A  E  I  K  K  M  M  A  T  Y  K  E  K  K  A  S  V         p.280

                                                                    g.40290
 TAA                                                                c.843
 X                                                                  p.280

          .         .         .         .         .         .       g.40350
 ctgtttccatgctaaacatgatttataaccagctcagagctgaacataatttatatctaa       c.*60

          .         .         .         .         .         .       g.40410
 tttgagttcctttaaagatcttggttttccatgaatacagcatgtataataaaaatttta       c.*120

          .         .         .                                     g.40449
 agaaataaatgttattctactttattaacaaaaaaaaaa                            c.*159

 (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 Succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 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.