guanine nucleotide binding protein (G protein), beta polypeptide 3 (GNB3) - coding DNA reference sequence

(used for variant description)

(last modified May 7, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_002075.2 in the GNB3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000012.11, covering GNB3 transcript NM_002075.2.

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

 (upstream sequence)
                     .         .         .         .                g.5045
                ccacaataggggcagacctgtccatccttctctgtgggtcccctg       c.-361

 .         .         .         .         .         .                g.5105
 tacctttctcccccaacaggatcagacccagaggcagctggttggggtttgtcgagaaga       c.-301

 .         .         .         .         .         .                g.5165
 aggattatccagatcagtcctttctaatctcagctcctgcctgtaccctcccatactcac       c.-241

 .         .         .         .         .     | 02   .             g.5673
 caaaccctcttccccaccaccctgagctgaggagcacagtttgag | gcccccccaaccccc    c.-181

 .         .         .         .         .         .                g.5733
 cgccggtcggggccaggccaggccaggccagctcctctggcagcagagcctgggcaggtg       c.-121

 .         .         .         .         .         .                g.5793
 acgggcgggcgcgggcgtcgcagctgagggagtaaggaggctcccaggaaccggagctgg       c.-61

 .         .         .          | 03        .         .             g.6077
 aaacccggccgaggtccagccagagcccaa | gagccagagtgacccctcgacctgtcagcc    c.-1

          .         .         .         .         .        | 04.    g.6378
 ATGGGGGAGATGGAGCAACTGCGTCAGGAAGCGGAGCAGCTCAAGAAGCAGATTGCA | GAT    c.60
 M  G  E  M  E  Q  L  R  Q  E  A  E  Q  L  K  K  Q  I  A   | D      p.20

          .         .         .       | 05 .         .         .    g.7783
 GCCAGGAAAGCCTGTGCTGACGTTACTCTGGCAGAG | CTGGTGTCTGGCCTAGAGGTGGTG    c.120
 A  R  K  A  C  A  D  V  T  L  A  E   | L  V  S  G  L  E  V  V      p.40

          .         .         .         .         .         .       g.7843
 GGACGAGTCCAGATGCGGACGCGGCGGACGTTAAGGGGACACCTGGCCAAGATTTACGCC       c.180
 G  R  V  Q  M  R  T  R  R  T  L  R  G  H  L  A  K  I  Y  A         p.60

          .         .    | 06    .         .         .         .    g.8000
 ATGCACTGGGCCACTGATTCTAA | GCTGCTGGTAAGTGCCTCGCAAGATGGGAAGCTGATC    c.240
 M  H  W  A  T  D  S  K  |  L  L  V  S  A  S  Q  D  G  K  L  I      p.80

          .         .        | 07.         .         .         .    g.8185
 GTGTGGGACAGCTACACCACCAACAAG | GTGCACGCCATCCCACTGCGCTCCTCCTGGGTC    c.300
 V  W  D  S  Y  T  T  N  K   | V  H  A  I  P  L  R  S  S  W  V      p.100

          .         .         .         .         .         .       g.8245
 ATGACCTGTGCCTATGCCCCATCAGGGAACTTTGTGGCATGTGGGGGGCTGGACAACATG       c.360
 M  T  C  A  Y  A  P  S  G  N  F  V  A  C  G  G  L  D  N  M         p.120

          .         .         .         .         .         .       g.8305
 TGTTCCATCTACAACCTCAAATCCCGTGAGGGCAATGTCAAGGTCAGCCGGGAGCTTTCT       c.420
 C  S  I  Y  N  L  K  S  R  E  G  N  V  K  V  S  R  E  L  S         p.140

          . | 08       .         .         .         .         .    g.8471
 GCTCACACAG | GTTATCTCTCCTGCTGCCGCTTCCTGGATGACAACAATATTGTGACCAGC    c.480
 A  H  T  G |   Y  L  S  C  C  R  F  L  D  D  N  N  I  V  T  S      p.160

          .        | 09.         .         .         .         .    g.8609
 TCGGGGGACACCACGTG | TGCCTTGTGGGACATTGAGACTGGGCAGCAGAAGACTGTATTT    c.540
 S  G  D  T  T  C  |  A  L  W  D  I  E  T  G  Q  Q  K  T  V  F      p.180

          .         .         .         .         .         .       g.8669
 GTGGGACACACGGGTGACTGCATGAGCCTGGCTGTGTCTCCTGACTTCAATCTCTTCATT       c.600
 V  G  H  T  G  D  C  M  S  L  A  V  S  P  D  F  N  L  F  I         p.200

          .         .         .         .         .         .       g.8729
 TCGGGGGCCTGTGATGCCAGTGCCAAGCTCTGGGATGTGCGAGAGGGGACCTGCCGTCAG       c.660
 S  G  A  C  D  A  S  A  K  L  W  D  V  R  E  G  T  C  R  Q         p.220

          .         .         .          | 10        .         .    g.10396
 ACTTTCACTGGCCACGAGTCGGACATCAACGCCATCTGT | TTCTTCCCCAATGGAGAGGCC    c.720
 T  F  T  G  H  E  S  D  I  N  A  I  C   | F  F  P  N  G  E  A      p.240

          .         .         .         .         .         .       g.10456
 ATCTGCACGGGCTCGGATGACGCTTCCTGCCGCTTGTTTGACCTGCGGGCAGACCAGGAG       c.780
 I  C  T  G  S  D  D  A  S  C  R  L  F  D  L  R  A  D  Q  E         p.260

          .         .         .         .         .         .       g.10516
 CTGATCTGCTTCTCCCACGAGAGCATCATCTGCGGCATCACGTCCGTGGCCTTCTCCCTC       c.840
 L  I  C  F  S  H  E  S  I  I  C  G  I  T  S  V  A  F  S  L         p.280

          .         .         .         .         .         .       g.10576
 AGTGGCCGCCTACTATTCGCTGGCTACGACGACTTCAACTGCAATGTCTGGGACTCCATG       c.900
 S  G  R  L  L  F  A  G  Y  D  D  F  N  C  N  V  W  D  S  M         p.300

          .       | 11 .         .         .         .         .    g.11625
 AAGTCTGAGCGTGTGG | GCATCCTCTCTGGCCACGATAACAGGGTGAGCTGCCTGGGAGTC    c.960
 K  S  E  R  V  G |   I  L  S  G  H  D  N  R  V  S  C  L  G  V      p.320

          .         .         .         .         .         .       g.11685
 ACAGCTGACGGGATGGCTGTGGCCACAGGTTCCTGGGACAGCTTCCTCAAAATCTGGAAC       c.1020
 T  A  D  G  M  A  V  A  T  G  S  W  D  S  F  L  K  I  W  N         p.340

                                                                    g.11688
 TGA                                                                c.1023
 X                                                                  p.340

          .         .         .         .         .         .       g.11748
 ggaggctggagaaagggaagtggaaggcagtgaacacactcagcagccccctgcccgacc       c.*60

          .         .         .         .         .         .       g.11808
 ccatctcattcaggtgttctcttctatattccgggtgccattcccactaagctttctcct       c.*120

          .         .         .         .         .         .       g.11868
 ttgagggcagtggggagcatgggactgtgcctttgggaggcagcatcagggacacagggg       c.*180

          .         .         .         .         .         .       g.11928
 caaagaactgccccatctcctcccatggccttccctccccacagtcctcacagcctctcc       c.*240

          .         .         .         .         .         .       g.11988
 cttaatgagcaaggacaacctgcccctccccagccctttgcaggcccagcagacttgagt       c.*300

          .         .         .         .         .         .       g.12048
 ctgaggccccaggccctaggattcctcccccagagccactacctttgtccaggcctgggt       c.*360

          .         .         .         .         .         .       g.12108
 ggtatagggcgtttggccctgtgactatggctctggcaccactagggtcctggccctctt       c.*420

          .         .         .         .         .         .       g.12168
 cttattcatgctttctcctttttctacctttttttctctcctaagacacctgcaataaag       c.*480

          .                                                         g.12183
 tgtagcaccctggta                                                    c.*495

 (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 Guanine nucleotide binding protein (G protein), beta polypeptide 3 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.