Shwachman-Bodian-Diamond syndrome (SBDS) - coding DNA reference sequence

(used for variant description)

(last modified April 23, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_016038.2 in the SBDS gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000007.13, covering SBDS transcript NM_016038.2.

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

 (upstream sequence)
                                                                    g.5004
                                                         gtaa       c.-181

 .         .         .         .         .         .                g.5064
 gtaagcctgccagacacactgtgacggctgcctgaagctagtgagtcgcggcgccgcgca       c.-121

 .         .         .         .         .         .                g.5124
 ctggtggttgggtcagtgccgcgcgccgatcggtcgttaccgcgaggcgctggtggcctt       c.-61

 .         .         .         .         .         .                g.5184
 caggctggacggcgcgggtcagccctggttcgccggcttctgggtctttgaacagccgcg       c.-1

          .         .         .         .         .         .       g.5244
 ATGTCGATCTTCACCCCCACCAACCAGATCCGCCTAACCAATGTGGCCGTGGTACGGATG       c.60
 M  S  I  F  T  P  T  N  Q  I  R  L  T  N  V  A  V  V  R  M         p.20

          .         .         .         .         .         .       g.5304
 AAGCGTGCCGGGAAGCGCTTCGAAATCGCCTGCTACAAAAACAAGGTCGTCGGCTGGCGG       c.120
 K  R  A  G  K  R  F  E  I  A  C  Y  K  N  K  V  V  G  W  R         p.40

          | 02         .         .         .         .         .    g.6312
 AGCGGCGT | GGAAAAAGACCTCGATGAAGTTCTGCAGACCCACTCAGTGTTTGTAAATGTT    c.180
 S  G  V  |  E  K  D  L  D  E  V  L  Q  T  H  S  V  F  V  N  V      p.60

          .         .         .         .         .         .       g.6372
 TCTAAAGGTCAGGTTGCCAAAAAGGAAGATCTCATCAGTGCGTTTGGAACAGATGACCAA       c.240
 S  K  G  Q  V  A  K  K  E  D  L  I  S  A  F  G  T  D  D  Q         p.80

          .         | 03         .         .         .         .    g.7226
 ACTGAAATCTGTAAGCAG | ATTTTGACTAAAGGAGAAGTTCAAGTATCAGATAAAGAAAGA    c.300
 T  E  I  C  K  Q   | I  L  T  K  G  E  V  Q  V  S  D  K  E  R      p.100

          .         .         .         .         .         .       g.7286
 CACACACAACTGGAGCAGATGTTTAGGGACATTGCAACTATTGTGGCAGACAAATGTGTG       c.360
 H  T  Q  L  E  Q  M  F  R  D  I  A  T  I  V  A  D  K  C  V         p.120

          .         .         .         .         .         .       g.7346
 AATCCTGAAACAAAGAGACCATACACCGTGATCCTTATTGAGAGAGCCATGAAGGACATC       c.420
 N  P  E  T  K  R  P  Y  T  V  I  L  I  E  R  A  M  K  D  I         p.140

          .         .         .          | 04        .         .    g.9321
 CACTATTCGGTGAAAACCAACAAGAGTACAAAACAGCAG | GCTTTGGAAGTGATAAAGCAG    c.480
 H  Y  S  V  K  T  N  K  S  T  K  Q  Q   | A  L  E  V  I  K  Q      p.160

          .         .         .         .         .         .       g.9381
 TTAAAAGAGAAAATGAAGATAGAACGTGCTCACATGAGGCTTCGGTTCATCCTTCCAGTC       c.540
 L  K  E  K  M  K  I  E  R  A  H  M  R  L  R  F  I  L  P  V         p.180

          .         .         .         .         .         .       g.9441
 AATGAAGGCAAGAAGCTGAAAGAAAAGCTCAAGCCACTGATCAAGGTCATAGAAAGTGAA       c.600
 N  E  G  K  K  L  K  E  K  L  K  P  L  I  K  V  I  E  S  E         p.200

          .         .     | 05   .         .         .         .    g.12138
 GATTATGGCCAACAGTTAGAAATC | GTATGTCTGATTGACCCGGGCTGCTTCCGAGAAATT    c.660
 D  Y  G  Q  Q  L  E  I   | V  C  L  I  D  P  G  C  F  R  E  I      p.220

          .         .         .         .         .         .       g.12198
 GATGAGCTAATAAAAAAGGAAACTAAAGGCAAAGGTTCTTTGGAAGTACTCAATCTGAAA       c.720
 D  E  L  I  K  K  E  T  K  G  K  G  S  L  E  V  L  N  L  K         p.240

          .         .         .                                     g.12231
 GATGTAGAAGAAGGAGATGAGAAATTTGAATGA                                  c.753
 D  V  E  E  G  D  E  K  F  E  X                                    p.250

          .         .         .         .         .         .       g.12291
 cacccatcaatctcttcacctctaaaacactaaagtgtttccgtttccgacggcactgtt       c.*60

          .         .         .         .         .         .       g.12351
 tcatgtctgtggtctgccaaatacttgcttaaactatttgacattttctatctttgtgtt       c.*120

          .         .         .         .         .         .       g.12411
 aacagtggacacagcaaggctttcctacataagtataataatgtgggaatgatttggttt       c.*180

          .         .         .         .         .         .       g.12471
 taattataaactggggtctaaatcctaaagcaaaattgaaactccaagatgcaaagtcca       c.*240

          .         .         .         .         .         .       g.12531
 gagtggcattttgctactctgtctcatgccttgatagctttccaaaatgaaagttacttg       c.*300

          .         .         .         .         .         .       g.12591
 aggcagctcttgtgggtgaaaagttatttgtacagtagagtaagattattaggggtatgt       c.*360

          .         .         .         .         .         .       g.12651
 ctatacaacaaaagggggggtctttcctaaaaaagaaaacatatgatgcttcatttctac       c.*420

          .         .         .         .         .         .       g.12711
 ttaatggaacttgtgttctgagggtcattatggtatcgtaatgtaaagcttggatgatgt       c.*480

          .         .         .         .         .         .       g.12771
 tcctgattatctgagaaacagatatagaaaaattgtgccggacttacctttcattgaaca       c.*540

          .         .         .         .         .         .       g.12831
 tgctgccataacttagattattcttggttaaaaaataaaagtcacttatttctaattctt       c.*600

          .         .         .         .         .         .       g.12891
 aaagtttataatatatattaatatagctaaaattgtatgtaatcaataaaaccactctta       c.*660

                                                                    g.12899
 tgtttatt                                                           c.*668

 (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 Shwachman-Bodian-Diamond syndrome 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.