B9 protein domain 1 (B9D1) - coding DNA reference sequence

(used for variant description)

(last modified August 2, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_015681.3 in the B9D1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000017.10, covering B9D1 transcript NM_015681.3.

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

 (upstream sequence)
                     .         .         .         .                g.20493
                 ctgcgcctgcgcatgccacacgcgcactcgcgtggccttcgcga       c.-121

 .         .         .         .         .         .                g.20553
 aggtgtcgctgccaagaaacgtgtcctgcgcgctacgccgtctgtttctagggcaacgcc       c.-61

 .         .         .         .         .         .                g.20613
 ggcgtctcttagcaaccgcgcgcggcctaggtgggtccccccggcacccccagacctgcc       c.-1

          .         .         .         .         .         .       g.20673
 ATGGCGACCGCGAGTCCTAGCGTCTTTCTACTCATGGTCAACGGGCAGGTGGAGAGCGCC       c.60
 M  A  T  A  S  P  S  V  F  L  L  M  V  N  G  Q  V  E  S  A         p.20

     | 02    .         .         .         .         .         .    g.22851
 CAG | TTTCCAGAGTATGATGACCTCTACTGCAAGTACTGCTTTGTGTACGGCCAGGACTGG    c.120
 Q   | F  P  E  Y  D  D  L  Y  C  K  Y  C  F  V  Y  G  Q  D  W      p.40

          .   | 03     .         .         .         .         .    g.25279
 GCCCCCACAGCG | GGTCTGGAGGAGGGGATCTCACAGATCACATCCAAGAGCCAAGATGTG    c.180
 A  P  T  A   | G  L  E  E  G  I  S  Q  I  T  S  K  S  Q  D  V      p.60

          .         .         .         .         .         .       g.25339
 CGGCAAGCACTGGTGTGGAACTTCCCCATTGATGTCACCTTTAAAAGCACCAACCCCTAC       c.240
 R  Q  A  L  V  W  N  F  P  I  D  V  T  F  K  S  T  N  P  Y         p.80

      | 04   .         .         .         .         .         .    g.35358
 GGCT | GGCCACAGATCGTGCTCAGCGTGTATGGACCAGATGTGTTCGGGAACGATGTGGTT    c.300
 G  W |   P  Q  I  V  L  S  V  Y  G  P  D  V  F  G  N  D  V  V      p.100

          .         .         .         .  | 05      .         .    g.35870
 CGAGGCTATGGGGCCGTGCACGTGCCCTTCTCACCTGGCCG | GCACAAAAGGACCATCCCC    c.360
 R  G  Y  G  A  V  H  V  P  F  S  P  G  R  |  H  K  R  T  I  P      p.120

          .         .         .         .     | 06   .         .    g.39341
 ATGTTTGTCCCAGAATCTACGTCTAAACTGCAGAAGTTTACAAG | CTGGTTCATGGGGCGG    c.420
 M  F  V  P  E  S  T  S  K  L  Q  K  F  T  S  |  W  F  M  G  R      p.140

          .         .         .         .         .   | 07     .    g.39729
 CGGCCCGAGTACACAGACCCCAAGGTGGTGGCTCAGGGTGAAGGCCGGGAAG | TGACCCGT    c.480
 R  P  E  Y  T  D  P  K  V  V  A  Q  G  E  G  R  E  V |   T  R      p.160

          .         .         .         .         .         .       g.39789
 GTCCGTTCTCAGGGCTTTGTCACCCTCCTCTTCAACGTGGTGACCAAGGACATGAGGAAA       c.540
 V  R  S  Q  G  F  V  T  L  L  F  N  V  V  T  K  D  M  R  K         p.180

          .         .         .         .         .         .       g.39849
 CTGGGCTATGACACTGGGCCTTCTGATACACAGGGTGTGTTGGGGCCCAGCCCACCCCAG       c.600
 L  G  Y  D  T  G  P  S  D  T  Q  G  V  L  G  P  S  P  P  Q         p.200

          .                                                         g.39864
 AGCTTCCCCCAGTGA                                                    c.615
 S  F  P  Q  X                                                      p.204

          .         .         .         .         .         .       g.39924
 aggctccacaggctgcacagtctctgataatgaagggctgccttcccgaagtcagccgct       c.*60

          .         .         .         .         .         .       g.39984
 gcccatcggcctgaggggcagcctggtggccagagctgggggcacacagaatagttttgt       c.*120

          .         .                                               g.40013
 ataataaagtctcattttcagagagccta                                      c.*149

 (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 B9 protein domain 1 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.