guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1) - coding DNA reference sequence

(used for variant description)

(last modified March 8, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_020988.2 in the GNAO1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000016.9, covering GNAO1 transcript NM_020988.2.

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

 (upstream sequence)
           .         .         .         .         .                g.5057
    gctgacgtcagctggcggcccgcggagccgggtgcgcagagccgctggcgcactcgc       c.-841

 .         .         .         .         .         .                g.5117
 gcgctgcgctggcctcctccccgccccgggcccaggcgcgcgcgcgcttgttcgctctcc       c.-781

 .         .         .         .         .         .                g.5177
 cattttttttttcccctccctccctgcctctctctctctccctctccctcgagctcccgg       c.-721

 .         .         .         .         .         .                g.5237
 ctggctgcggctccctggcgctctccctctctctccggtaggctcaccgagcgatgcgag       c.-661

 .         .         .         .         .         .                g.5297
 ctctgggagacagcgacgccgcctcccgctagagacctgcccctcggcccggccccctgc       c.-601

 .         .         .         .         .         .                g.5357
 ccaaccctgcccagcgcgcgggggtcggcgaaggcgccgcggacgcaccgacggctgaag       c.-541

 .         .         .         .         .         .                g.5417
 agcggcgatgcacatgcactagcagcaccccctaactcactccctccacatcccgcgccg       c.-481

 .         .         .         .         .         .                g.5477
 ccgccgccgcctcctccacctcctcctccgccgccgccgcctcctcctcctccggcagcc       c.-421

 .         .         .         .         .         .                g.5537
 gcggcagcaggacccaccctgccccccaccccaccctctgtcggctccggctgcggctcc       c.-361

 .         .         .         .         .         .                g.5597
 agcctcgactattattttatttattttgggtcgtgcacaagcctcagtgcctgcagtccg       c.-301

 .         .         .         .         .         .                g.5657
 cgcctcctcggcccgcgggcgcctcctcccttggctccggagccccagaccccggccacc       c.-241

 .         .         .         .         .         .                g.5717
 ctcgattcgacaaccccagacccctgccagctgccgcgagtctccgctgctggaatcttg       c.-181

 .         .         .         .         .         .                g.5777
 ttagcggctgtctttttggagggttctggtttcccgacatttttgtttccagcccaggag       c.-121

 .         .         .         .         .         .                g.5837
 aggatatcgtgattttccccccttgagcccaggctctgctctctgggggggtggggggcg       c.-61

 .         .         .         .         .         .                g.5897
 ctccaagccggggagccgtgccagccgagtcgtgcgggctgtggcagggaaggggccacc       c.-1

          .         .         .         .         .         .       g.5957
 ATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAG       c.60
 M  G  C  T  L  S  A  E  E  R  A  A  L  E  R  S  K  A  I  E         p.20

          .         .         .         .         .         | 02    g.6237
 AAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCG | GG    c.120
 K  N  L  K  E  D  G  I  S  A  A  K  D  V  K  L  L  L  L  G |       p.40

          .         .         .         .  | 03      .         .    g.89611
 GCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAA | GATCATCCATGAAGATGGC    c.180
 A  G  E  S  G  K  S  T  I  V  K  Q  M  K  |  I  I  H  E  D  G      p.60

          .         .         .         .         .         .       g.89671
 TTCTCCGGAGAAGACGTGAAACAGTACAAGCCTGTTGTCTACAGCAACACTATCCAGTCC       c.240
 F  S  G  E  D  V  K  Q  Y  K  P  V  V  Y  S  N  T  I  Q  S         p.80

          .         .         .         .         .         .       g.89731
 CTGGCAGCCATCGTCCGGGCCATGGACACTTTGGGCATCGAATATGGTGATAAGGAGAGA       c.300
 L  A  A  I  V  R  A  M  D  T  L  G  I  E  Y  G  D  K  E  R         p.100

     | 04    .         .         .         .         .         .    g.142349
 AAG | GCTGACGCCAAGATGGTGTGTGATGTGGTGAGTCGGATGGAAGACACCGAGCCCTTC    c.360
 K   | A  D  A  K  M  V  C  D  V  V  S  R  M  E  D  T  E  P  F      p.120

          .         .         .         .         .         .       g.142409
 TCTGCAGAGCTGCTTTCTGCCATGATGCGGCTCTGGGGCGACTCAGGAATCCAAGAGTGC       c.420
 S  A  E  L  L  S  A  M  M  R  L  W  G  D  S  G  I  Q  E  C         p.140

          .         .         .         .     | 05   .         .    g.148406
 TTCAACCGGTCCCGGGAGTATCAGCTCAACGACTCTGCCAAATA | CTACCTGGACAGCCTG    c.480
 F  N  R  S  R  E  Y  Q  L  N  D  S  A  K  Y  |  Y  L  D  S  L      p.160

          .         .         .         .         .         .       g.148466
 GATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTC       c.540
 D  R  I  G  A  A  D  Y  Q  P  T  E  Q  D  I  L  R  T  R  V         p.180

          .         .         .         .         .    | 06    .    g.150399
 AAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAG | GCTGTTT    c.600
 K  T  T  G  I  V  E  T  H  F  T  F  K  N  L  H  F  R  |  L  F      p.200

          .         .         .         .         .         .       g.150459
 GACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACG       c.660
 D  V  G  G  Q  R  S  E  R  K  K  W  I  H  C  F  E  D  V  T         p.220

          .         .         .         .         .         .       g.150519
 GCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACC       c.720
 A  I  I  F  C  V  A  L  S  G  Y  D  Q  V  L  H  E  D  E  T         p.240

     | 07    .         .         .         .         .         .    g.165102
 ACG | AACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTC    c.780
 T   | N  R  M  H  E  S  L  M  L  F  D  S  I  C  N  N  K  F  F      p.260

          .         .         .         .         .         .       g.165162
 ATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAG       c.840
 I  D  T  S  I  I  L  F  L  N  K  K  D  L  F  G  E  K  I  K         p.280

          .         .         .        | 08.         .         .    g.168550
 AAGTCACCTTTGACCATCTGCTTTCCTGAATACACAG | GCCCCAATACCTATGAAGACGCA    c.900
 K  S  P  L  T  I  C  F  P  E  Y  T  G |   P  N  T  Y  E  D  A      p.300

          .         .         .         .         .         .       g.168610
 GCCGCCTACATCCAAGCACAATTTGAAAGCAAAAACCGCTCACCCAACAAAGAAATATAT       c.960
 A  A  Y  I  Q  A  Q  F  E  S  K  N  R  S  P  N  K  E  I  Y         p.320

          .         .         .         .         .         .       g.168670
 TGTCACATGACTTGTGCCACAGACACGAATAACATCCAGGTGGTGTTCGACGCCGTCACC       c.1020
 C  H  M  T  C  A  T  D  T  N  N  I  Q  V  V  F  D  A  V  T         p.340

          .         .         .         .                           g.168715
 GACATCATCATTGCCAACAACCTCCGGGGCTGCGGCTTGTACTGA                      c.1065
 D  I  I  I  A  N  N  L  R  G  C  G  L  Y  X                        p.354

          .         .         | 09         .         .         .    g.169796
 cctcttgtcctgtatagcaacctatttg | actgcttcacggactctttgctgttgacgttg    c.*60

          .         .         .         .         .         .       g.169856
 atctcctggtagcatgaccttttggcctttgtaagacacacagcctttctgtatcaagcc       c.*120

          .         .         .         .         .         .       g.169916
 cctgtctaacctacgaccccagagtgactgacggctgtgtatttctgtagaatgctgtag       c.*180

          .         .         .         .         .         .       g.169976
 aatccggttttagttgagtcttcacatttagaatttgaaaggaaaaacagaacatttctc       c.*240

          .         .         .         .         .         .       g.170036
 atgtgctttgtagcttaaaaaaaggaaaactcaccatttcatccatatttctttttcttg       c.*300

          .         .         .         .         .         .       g.170096
 caaaacaaacatacccatctgcaccgacgcctgcccccgtcccacctcgcggcgcagccc       c.*360

          .         .         .         .         .         .       g.170156
 ctggagctcctgctggggggcagggcccatctgccgcctggggctccggtgcggtgcact       c.*420

          .         .         .         .         .         .       g.170216
 ggtccgaggagtgtgctcaggccgggctttccagaaggccacaggccactgcaaaccctg       c.*480

          .         .         .         .         .         .       g.170276
 ctgcctgccggccgcccagacaccacagacgccacctggcggccctaagccactcccgcc       c.*540

          .         .         .         .         .         .       g.170336
 acacgctcactccaggttcgtatagaaaaagcacagctctcactggccagtagctgccaa       c.*600

          .         .         .         .         .         .       g.170396
 aaagaacacccatcgtataaggaaatccagccccatagaaaacaatctgcccaccgaccc       c.*660

          .         .         .         .         .         .       g.170456
 cctttctaaggatagcctttgtaggggttttttggttccttttttttttttttcagtttt       c.*720

          .         .         .         .         .         .       g.170516
 tgtttttacttttgtcccgccgagtactatgtattaccagccccccaccccacagatcag       c.*780

          .         .         .         .         .         .       g.170576
 ttttcctagtctttgggaaacgggttgtgttttttttcctttgccgtgttggatttccgg       c.*840

          .         .         .         .         .         .       g.170636
 tcccggctgacacctcccttcgtgtgtgcgcccctccccacccctgcctttgtttcggtg       c.*900

          .         .         .         .         .         .       g.170696
 ccctgtgtccgctctctcatgtggggatgtttgtgctgcagacaaaaagaacaaaaaaaa       c.*960

          .         .         .         .         .         .       g.170756
 atttttaaataccacaagatggaaaaaaaaaacaaaaaaatttaaaaagatggaatgtag       c.*1020

          .         .         .         .         .         .       g.170816
 tgtttacattaaagccgccgttttcatgaccaatcctatgtcatttctactttgactaat       c.*1080

          .         .         .         .         .         .       g.170876
 acccaaaccctaaacctcttcacggtttcacttttaagacttaatctttgctgaagaaga       c.*1140

          .         .         .         .         .         .       g.170936
 ccagtcacagccatttcaaataaagaggaggcaaaaagacaaaacacacaaaaaattaaa       c.*1200

          .         .         .         .         .         .       g.170996
 aaaaaaaacttaaaaaaaaaaggaaaaaagaaaaaaaagcccacgggtctttgtaagcct       c.*1260

          .         .         .         .         .         .       g.171056
 ttctattcccaatcggtgaggtttctgtgatatcttacacactgccagtctacttctctg       c.*1320

          .         .         .         .         .                 g.171106
 actaatggaaaattcctgtgtagctcaataaaagagaatgtttgtctgta                 c.*1370

 (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), alpha activating activity polypeptide O 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.