dopamine receptor D4 (DRD4) - coding DNA reference sequence

(used for variant description)

(last modified March 18, 2015)


This file was created to facilitate the description of sequence variants on transcript NM_000797.3 in the DRD4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_021241.1, covering DRD4 transcript NM_000797.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
          .         .         .         .         .         .       g.60
 ATGGGGAACCGCAGCACCGCGGACGCGGACGGGCTGCTGGCTGGGCGCGGGCCGGCCGCG       c.60
 M  G  N  R  S  T  A  D  A  D  G  L  L  A  G  R  G  P  A  A         p.20

          .         .         .         .         .         .       g.120
 GGGGCATCTGCGGGGGCATCTGCGGGGCTGGCTGGGCAGGGCGCGGCGGCGCTGGTGGGG       c.120
 G  A  S  A  G  A  S  A  G  L  A  G  Q  G  A  A  A  L  V  G         p.40

          .         .         .         .         .         .       g.180
 GGCGTGCTGCTCATCGGCGCGGTGCTCGCGGGGAACTCGCTCGTGTGCGTGAGCGTGGCC       c.180
 G  V  L  L  I  G  A  V  L  A  G  N  S  L  V  C  V  S  V  A         p.60

          .         .         .         .         .         .       g.240
 ACCGAGCGCGCCCTGCAGACGCCCACCAACTCCTTCATCGTGAGCCTGGCGGCCGCCGAC       c.240
 T  E  R  A  L  Q  T  P  T  N  S  F  I  V  S  L  A  A  A  D         p.80

          .         .         .         .      | 02  .         .    g.2143
 CTCCTCCTCGCTCTCCTGGTGCTGCCGCTCTTCGTCTACTCCGAG | GTCCAGGGTGGCGCG    c.300
 L  L  L  A  L  L  V  L  P  L  F  V  Y  S  E   | V  Q  G  G  A      p.100

          .         .         .         .         .         .       g.2203
 TGGCTGCTGAGCCCCCGCCTGTGCGACGCCCTCATGGCCATGGACGTCATGCTGTGCACC       c.360
 W  L  L  S  P  R  L  C  D  A  L  M  A  M  D  V  M  L  C  T         p.120

          .         .         .         | 03         .         .    g.2365
 GCCTCCATCTTCAACCTGTGCGCCATCAGCGTGGACAG | GTTCGTGGCCGTGGCCGTGCCG    c.420
 A  S  I  F  N  L  C  A  I  S  V  D  R  |  F  V  A  V  A  V  P      p.140

          .         .         .         .         .         .       g.2425
 CTGCGCTACAACCGGCAGGGTGGGAGCCGCCGGCAGCTGCTGCTCATCGGCGCCACGTGG       c.480
 L  R  Y  N  R  Q  G  G  S  R  R  Q  L  L  L  I  G  A  T  W         p.160

          .         .         .         .         .         .       g.2485
 CTGCTGTCCGCGGCGGTGGCGGCGCCCGTACTGTGCGGCCTCAACGACGTGCGCGGCCGC       c.540
 L  L  S  A  A  V  A  A  P  V  L  C  G  L  N  D  V  R  G  R         p.180

          .         .         .         .         .         .       g.2545
 GACCCCGCCGTGTGCCGCCTGGAGGACCGCGACTACGTGGTCTACTCGTCCGTGTGCTCC       c.600
 D  P  A  V  C  R  L  E  D  R  D  Y  V  V  Y  S  S  V  C  S         p.200

          .         .         .         .         .         .       g.2605
 TTCTTCCTACCCTGCCCGCTCATGCTGCTGCTCTACTGGGCCACGTTCCGCGGCCTGCAG       c.660
 F  F  L  P  C  P  L  M  L  L  L  Y  W  A  T  F  R  G  L  Q         p.220

          .         .         .         .         .         .       g.2665
 CGCTGGGAGGTGGCACGTCGCGCCAAGCTGCACGGCCGCGCGCCCCGCCGACCCAGCGGC       c.720
 R  W  E  V  A  R  R  A  K  L  H  G  R  A  P  R  R  P  S  G         p.240

          .         .         .         .         .         .       g.2725
 CCTGGCCCGCCTTCCCCCACGCCACCCGCGCCCCGCCTCCCCCAGGACCCCTGCGGCCCC       c.780
 P  G  P  P  S  P  T  P  P  A  P  R  L  P  Q  D  P  C  G  P         p.260

          .         .         .         .         .         .       g.2785
 GACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCC       c.840
 D  C  A  P  P  A  P  G  L  P  R  G  P  C  G  P  D  C  A  P         p.280

          .         .         .         .         .         .       g.2845
 GCCGCGCCCAGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGC       c.900
 A  A  P  S  L  P  Q  D  P  C  G  P  D  C  A  P  P  A  P  G         p.300

          .         .         .         .         .         .       g.2905
 CTCCCCCCGGACCCCTGCGGCTCCAACTGTGCTCCCCCCGACGCCGTCAGAGCCGCCGCG       c.960
 L  P  P  D  P  C  G  S  N  C  A  P  P  D  A  V  R  A  A  A         p.320

          .         .         .         .         .         .       g.2965
 CTCCCACCCCAGACTCCACCGCAGACCCGCAGGAGGCGGCGTGCCAAGATCACCGGCCGG       c.1020
 L  P  P  Q  T  P  P  Q  T  R  R  R  R  R  A  K  I  T  G  R         p.340

          .         .         .        | 04.         .         .    g.3119
 GAGCGCAAGGCCATGAGGGTCCTGCCGGTGGTGGTCG | GGGCCTTCCTGCTGTGCTGGACG    c.1080
 E  R  K  A  M  R  V  L  P  V  V  V  G |   A  F  L  L  C  W  T      p.360

          .         .         .         .         .         .       g.3179
 CCCTTCTTCGTGGTGCACATCACGCAGGCGCTGTGTCCTGCCTGCTCCGTGCCCCCGCGG       c.1140
 P  F  F  V  V  H  I  T  Q  A  L  C  P  A  C  S  V  P  P  R         p.380

          .         .         .         .         .         .       g.3239
 CTGGTCAGCGCCGTCACCTGGCTGGGCTACGTCAACAGCGCCCTCAACCCCGTCATCTAC       c.1200
 L  V  S  A  V  T  W  L  G  Y  V  N  S  A  L  N  P  V  I  Y         p.400

          .         .         .         .         .         .       g.3299
 ACTGTCTTCAACGCCGAGTTCCGCAACGTCTTCCGCAAGGCCCTGCGTGCCTGCTGCTGA       c.1260
 T  V  F  N  A  E  F  R  N  V  F  R  K  A  L  R  A  C  C  X         p.419

          .         .         .         .         .         .       g.3359
 gccgggcacccccggacgccccccggcctgatggccaggcctcagggaccaaggagatgg       c.*60

          .         .         .         .                           g.3402
 ggagggcgcttttgtacgttaattaaacaaattccttcccaaa                        c.*103

 (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 Dopamine receptor D4 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.

Powered by LOVD v.3.0 Build 12
©2004-2015 Leiden University Medical Center