cytochrome b-245, alpha polypeptide (CYBA) - coding DNA reference sequence

(used for variant description)

(last modified August 13, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_000101.3 in the CYBA gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000016.9, covering CYBA transcript NM_000101.3.

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

 (upstream sequence)
                                                   .                g.5011
                                                  ggcggggttcg       c.-61

 .         .         .         .         .         .                g.5071
 gccgggagcgcaggggcggcagtgcgcgcctagcagtgtcccagccgggttcgtgtcgcc       c.-1

          .         .         .         .         .         | 02    g.7972
 ATGGGGCAGATCGAGTGGGCCATGTGGGCCAACGAACAGGCGCTGGCGTCCGGCCTGA | TC    c.60
 M  G  Q  I  E  W  A  M  W  A  N  E  Q  A  L  A  S  G  L  I |       p.20

          .         .         .         .         .         .       g.8032
 CTCATCACCGGGGGCATCGTGGCCACAGCTGGGCGCTTCACCCAGTGGTACTTTGGTGCC       c.120
 L  I  T  G  G  I  V  A  T  A  G  R  F  T  Q  W  Y  F  G  A         p.40

          | 03         .         .         .         .         .    g.8961
 TACTCCAT | TGTGGCGGGCGTGTTTGTGTGCCTGCTGGAGTACCCCCGGGGGAAGAGGAAG    c.180
 Y  S  I  |  V  A  G  V  F  V  C  L  L  E  Y  P  R  G  K  R  K      p.60

          .         .    | 04    .         .         .         .    g.9283
 AAGGGCTCCACCATGGAGCGCTG | GGGACAGAAGTACATGACCGCCGTGGTGAAGCTGTTC    c.240
 K  G  S  T  M  E  R  W  |  G  Q  K  Y  M  T  A  V  V  K  L  F      p.80

          .         .         .         .        | 05.         .    g.9900
 GGGCCCTTTACCAGGAATTACTATGTTCGGGCCGTCCTGCATCTCCT | GCTCTCGGTGCCC    c.300
 G  P  F  T  R  N  Y  Y  V  R  A  V  L  H  L  L  |  L  S  V  P      p.100

          .         .         .         .         .         .       g.9960
 GCCGGCTTCCTGCTGGCCACCATCCTTGGGACCGCCTGCCTGGCCATTGCGAGCGGCATC       c.360
 A  G  F  L  L  A  T  I  L  G  T  A  C  L  A  I  A  S  G  I         p.120

           | 06        .         .         .         .         .    g.12564
 TACCTACTG | GCGGCTGTGCGTGGCGAGCAGTGGACGCCCATCGAGCCCAAGCCCCGGGAG    c.420
 Y  L  L   | A  A  V  R  G  E  Q  W  T  P  I  E  P  K  P  R  E      p.140

          .         .         .         .         .         .       g.12624
 CGGCCGCAGATCGGAGGCACCATCAAGCAGCCGCCCAGCAACCCCCCGCCGCGGCCCCCG       c.480
 R  P  Q  I  G  G  T  I  K  Q  P  P  S  N  P  P  P  R  P  P         p.160

          .         .         .         .         .         .       g.12684
 GCCGAGGCCCGCAAGAAGCCCAGCGAGGAGGAGGCTGCGGTGGCGGCGGGGGGACCCCCG       c.540
 A  E  A  R  K  K  P  S  E  E  E  A  A  V  A  A  G  G  P  P         p.180

          .         .         .         .                           g.12732
 GGAGGTCCCCAGGTCAACCCCATCCCGGTGACCGACGAGGTCGTGTGA                   c.588
 G  G  P  Q  V  N  P  I  P  V  T  D  E  V  V  X                     p.195

          .         .         .         .         .         .       g.12792
 cctcgccccggacctgccctcccgccaggtgcacccacctgcaataaatgcagcgaagcc       c.*60

                                                                    g.12796
 ggga                                                               c.*64

 (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 Cytochrome b-245, 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.