dystrobrevin binding protein 1 (DTNBP1) - coding DNA reference sequence

(used for variant description)

(last modified July 25, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_032122.4 in the DTNBP1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009309.1, covering DTNBP1 transcript NM_032122.4.

Please note that introns are available by clicking on the exon numbers above the sequence. 
 (upstream sequence)
                                                                    g.4991
                                                    cgcgcgcgg       c.-181

 .         .         .         .         .         .                g.5051
 ggcgggaacgcggaaggggctggggttgcggcgcggcggcgaggaccagaccgggggcgg       c.-121

 .         .         .         .         .         .                g.5111
 ggccggtagtgggagtgcggggcgcgcggtgacagcgcggggttggcggcgtgggaccca       c.-61

 .         .         .         .         .         .                g.5171
 gggggcgacagaggcagcagcagcccgaggcctgaggagaggagaccggcggcggcggca       c.-1

          .         .         .         .         .       | 02 .    g.15904
 ATGCTGGAGACCCTTCGCGAGCGGCTGCTGAGCGTGCAGCAGGATTTCACCTCCGG | GCTG    c.60
 M  L  E  T  L  R  E  R  L  L  S  V  Q  Q  D  F  T  S  G  |  L      p.20

          .         .         .         .         . | 03       .    g.16687
 AAGACTTTAAGTGACAAGTCAAGAGAAGCAAAAGTGAAAAGCAAACCCAG | GACTGTTCCA    c.120
 K  T  L  S  D  K  S  R  E  A  K  V  K  S  K  P  R  |  T  V  P      p.40

          .         .         .         .  | 04      .         .    g.30255
 TTTTTGCCAAAGTACTCTGCTGGATTAGAATTACTTAGCAG | GTATGAGGATACATGGGCT    c.180
 F  L  P  K  Y  S  A  G  L  E  L  L  S  R  |  Y  E  D  T  W  A      p.60

          .         .         .         .   | 05     .         .    g.40583
 GCACTTCACAGAAGAGCCAAAGACTGTGCAAGTGCTGGAGAG | CTGGTGGATAGCGAGGTG    c.240
 A  L  H  R  R  A  K  D  C  A  S  A  G  E   | L  V  D  S  E  V      p.80

          .         .         .         .         .         .       g.40643
 GTCATGCTTTCTGCGCACTGGGAGAAGAAAAAGACAAGCCTCGTGGAGCTGCAAGAGCAG       c.300
 V  M  L  S  A  H  W  E  K  K  K  T  S  L  V  E  L  Q  E  Q         p.100

          .         .         .         .         .      | 06  .    g.52646
 CTCCAGCAGCTCCCAGCTTTAATCGCAGACTTAGAATCCATGACAGCAAATCTGA | CTCAT    c.360
 L  Q  Q  L  P  A  L  I  A  D  L  E  S  M  T  A  N  L  T |   H      p.120

          .         .         .         .         .         .       g.52706
 TTAGAGGCGAGTTTTGAGGAGGTAGAGAACAACCTGCTGCATCTGGAAGACTTATGTGGG       c.420
 L  E  A  S  F  E  E  V  E  N  N  L  L  H  L  E  D  L  C  G         p.140

          .         .         .         .         .         .       g.52766
 CAGTGTGAATTAGAAAGATGCAAACATATGCAGTCCCAGCAACTGGAGAATTACAAGAAA       c.480
 Q  C  E  L  E  R  C  K  H  M  Q  S  Q  Q  L  E  N  Y  K  K         p.160

          | 07         .         .  | 08      .         .         . g.134674
 AATAAGAG | GAAGGAACTTGAAACCTTCAAAG | CTGAACTAGATGCAGAGCACGCCCAGAAG c.540
 N  K  R  |  K  E  L  E  T  F  K  A |   E  L  D  A  E  H  A  Q  K   p.180

          .         .         .         .         .         .       g.134734
 GTCCTGGAAATGGAGCACACCCAGCAAATGAAGCTGAAGGAGCGGCAGAAGTTTTTTGAG       c.600
 V  L  E  M  E  H  T  Q  Q  M  K  L  K  E  R  Q  K  F  F  E         p.200

          .         .         .         .         .         .       g.134794
 GAAGCCTTCCAGCAGGACATGGAGCAGTACCTGTCCACTGGCTACCTGCAGATTGCAGAG       c.660
 E  A  F  Q  Q  D  M  E  Q  Y  L  S  T  G  Y  L  Q  I  A  E         p.220

         | 09.         .         .         .         .         .    g.143424
 CGGCGAG | AGCCCATAGGCAGCATGTCATCCATGGAAGTGAACGTGGACATGCTGGAGCAG    c.720
 R  R  E |   P  I  G  S  M  S  S  M  E  V  N  V  D  M  L  E  Q      p.240

          .         .         .         .         .         .       g.143484
 ATGGACCTGATGGACATATCGGACCAGGAGGCCCTGGACGTCTTCCTGAACTCTGGAGGA       c.780
 M  D  L  M  D  I  S  D  Q  E  A  L  D  V  F  L  N  S  G  G         p.260

          .         .         .  | 10      .         .         .    g.144850
 GAAGAGAACACTGTGCTGTCCCCCGCCTTAG | GGCCTGAATCCAGTACCTGTCAGAATGAG    c.840
 E  E  N  T  V  L  S  P  A  L  G |   P  E  S  S  T  C  Q  N  E      p.280

          .         .         .         .         .         .       g.144910
 ATTACCCTCCAGGTTCCAAATCCCTCAGAATTAAGAGCCAAGCCACCTTCTTCTTCCTCC       c.900
 I  T  L  Q  V  P  N  P  S  E  L  R  A  K  P  P  S  S  S  S         p.300

          .         .         .         .         .         .       g.144970
 ACCTGCACCGACTCGGCCACCCGGGACATCAGTGAGGGTGGGGAGTCCCCCGTTGTTCAG       c.960
 T  C  T  D  S  A  T  R  D  I  S  E  G  G  E  S  P  V  V  Q         p.320

          .         .         .         .         .         .       g.145030
 TCCGATGAGGAGGAAGTTCAGGTGGACACTGCCCTGGCCACATCACACACTGACAGAGAG       c.1020
 S  D  E  E  E  V  Q  V  D  T  A  L  A  T  S  H  T  D  R  E         p.340

          .         .         .                                     g.145066
 GCCACTCCGGATGGTGGTGAGGACAGCGACTCTTAA                               c.1056
 A  T  P  D  G  G  E  D  S  D  S  X                                 p.351

          .         .         .         .         .         .       g.145126
 attgggacatgggcgttgtctggccacactggaatccagttttggctgtatgcggaattc       c.*60

          .         .         .         .         .         .       g.145186
 cacctggaaagccaggttgttttatagaggttcttgatttttacataattgccaataatg       c.*120

          .         .         .         .         .                 g.145240
 tgtgagaaacttaaagaacagctaacaataaagtgtgaggacggtaaactgaga             c.*174

 (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 10th nucleotide is indicated by a "." above the sequence. The Dystrobrevin binding protein 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 10th 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.

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