gigaxonin (GAN) - coding DNA reference sequence

(used for mutation description)

(last modified October 23, 2012)


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

The sequence was taken from NG_009007.1, covering GAN transcript NM_022041.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5028
                                 agcacaggcacgtcccgggggctccagc       c.-121

 .         .         .         .         .         .                g.5088
 ttctgctcagagcgcggagagccgggccgggcgggcgcgcgcgcaggactcgggccgctc       c.-61

 .         .         .         .         .         .                g.5148
 gaggggtccggccggacggtgtcgggagccggacccgtcggcagaggagcgggcgccgcg       c.-1

          .         .         .         .         .         .       g.5208
 ATGGCTGAGGGCAGTGCCGTGTCTGACCCTCAGCACGCCGCGCGTCTGCTGCGAGCGCTC       c.60
 M  A  E  G  S  A  V  S  D  P  Q  H  A  A  R  L  L  R  A  L         p.20

          .         .         .         .         .         .       g.5268
 AGCTCTTTCCGCGAGGAGTCTCGCTTCTGCGACGCGCACCTGGTCCTCGACGGGGAGGAG       c.120
 S  S  F  R  E  E  S  R  F  C  D  A  H  L  V  L  D  G  E  E         p.40

          .         .         .         .        | 02.         .    g.41630
 ATCCCGGTGCAGAAGAACATCCTGGCGGCGGCCAGCCCGTACATCAG | GACAAAGTTAAAC    c.180
 I  P  V  Q  K  N  I  L  A  A  A  S  P  Y  I  R  |  T  K  L  N      p.60

          .         .         .         .         .         .       g.41690
 TATAATCCTCCAAAAGATGATGGATCAACTTATAAGATTGAACTTGAAGGGATATCGGTA       c.240
 Y  N  P  P  K  D  D  G  S  T  Y  K  I  E  L  E  G  I  S  V         p.80

          .         .         .         .   | 03     .         .    g.44457
 ATGGTTATGAGAGAGATCCTGGATTACATCTTCAGTGGGCAG | ATCAGGCTAAATGAAGAT    c.300
 M  V  M  R  E  I  L  D  Y  I  F  S  G  Q   | I  R  L  N  E  D      p.100

          .         .         .         .         .         .       g.44517
 ACAATCCAAGATGTTGTTCAGGCAGCTGACCTGCTGCTACTGACGGACCTTAAAACCCTG       c.360
 T  I  Q  D  V  V  Q  A  A  D  L  L  L  L  T  D  L  K  T  L         p.120

          .         .         .         .         .         .       g.44577
 TGCTGTGAGTTTTTGGAAGGCTGCATTGCTGCTGAGAACTGTATTGGTATCCGTGACTTT       c.420
 C  C  E  F  L  E  G  C  I  A  A  E  N  C  I  G  I  R  D  F         p.140

          .         .         .         .         .         .       g.44637
 GCACTACATTACTGCCTCCATCACGTTCATTACCTTGCCACAGAATACCTGGAGACTCAT       c.480
 A  L  H  Y  C  L  H  H  V  H  Y  L  A  T  E  Y  L  E  T  H         p.160

          .         .         .         .         .         .       g.44697
 TTCCGAGACGTCAGCAGCACGGAAGAATTCTTAGAGCTGAGTCCTCAAAAGCTTAAAGAA       c.540
 F  R  D  V  S  S  T  E  E  F  L  E  L  S  P  Q  K  L  K  E         p.180

          .         .         .         .         .         .       g.44757
 GTGATTTCTCTTGAGAAGTTAAACGTTGGCAATGAAAGATATGTCTTTGAAGCAGTAATT       c.600
 V  I  S  L  E  K  L  N  V  G  N  E  R  Y  V  F  E  A  V  I         p.200

          .         .         .    | 04    .         .         .    g.46846
 CGATGGATAGCACATGATACAGAAATAAGAAAG | GTCCACATGAAGGATGTTATGTCAGCT    c.660
 R  W  I  A  H  D  T  E  I  R  K   | V  H  M  K  D  V  M  S  A      p.220

          .         .         .         .         .         .       g.46906
 CTGTGGGTTTCAGGGTTGGACTCCAGTTATTTACGGGAACAGATGCTGAATGAACCATTA       c.720
 L  W  V  S  G  L  D  S  S  Y  L  R  E  Q  M  L  N  E  P  L         p.240

          .         .         .         .         .         .       g.46966
 GTACGAGAAATTGTCAAAGAGTGTAGCAATATACCGCTCAGCCAGCCGCAGCAAGGGGAG       c.780
 V  R  E  I  V  K  E  C  S  N  I  P  L  S  Q  P  Q  Q  G  E         p.260

          .         .         .         .         .         .       g.47026
 GCGATGCTGGCCAACTTCAAACCCCGGGGCTACTCTGAGTGCATCGTGACTGTTGGTGGA       c.840
 A  M  L  A  N  F  K  P  R  G  Y  S  E  C  I  V  T  V  G  G         p.280

          .  | 05      .         .         .         .         .    g.47893
 GAAGAGAGAGT | TTCACGGAAACCCACAGCAGCGATGCGATGCATGTGCCCTCTCTATGAC    c.900
 E  E  R  V  |  S  R  K  P  T  A  A  M  R  C  M  C  P  L  Y  D      p.300

          .         .         .         .         .         .       g.47953
 CCTAACAGGCAGCTTTGGATCGAACTGGCCCCTTTAAGCATGCCGAGAATTAACCATGGA       c.960
 P  N  R  Q  L  W  I  E  L  A  P  L  S  M  P  R  I  N  H  G         p.320

          .    | 06    .         .         .         .         .    g.52580
 GTTCTCTCAGCAG | AAGGATTTTTGTTTGTATTCGGGGGCCAAGATGAAAATAAGCAGACT    c.1020
 V  L  S  A  E |   G  F  L  F  V  F  G  G  Q  D  E  N  K  Q  T      p.340

          .         .         .         .         .         .       g.52640
 CTTAGCTCAGGAGAAAAGTATGATCCAGATGCAAATACATGGACAGCATTGCCACCTATG       c.1080
 L  S  S  G  E  K  Y  D  P  D  A  N  T  W  T  A  L  P  P  M         p.360

        | 07 .         .         .         .         .         .    g.53882
 AACGAG | GCAAGACATAACTTCGGAATTGTGGAGATAGATGGGATGCTGTACATTTTGGGA    c.1140
 N  E   | A  R  H  N  F  G  I  V  E  I  D  G  M  L  Y  I  L  G      p.380

          .         .         .         .         .         .       g.53942
 GGAGAGGATGGTGAAAAGGAGCTGATTTCCATGGAGTGTTACGATATTTATTCTAAAACC       c.1200
 G  E  D  G  E  K  E  L  I  S  M  E  C  Y  D  I  Y  S  K  T         p.400

          .         .         .       | 08 .         .         .    g.55032
 TGGACAAAGCAACCTGATTTGACCATGGTCAGAAAG | ATCGGCTGCTATGCAGCTATGAAA    c.1260
 W  T  K  Q  P  D  L  T  M  V  R  K   | I  G  C  Y  A  A  M  K      p.420

          .         .         .         .         .         .       g.55092
 AAGAAAATCTACGCCATGGGTGGAGGCTCCTACGGAAAGCTTTTTGAGTCTGTAGAGTGT       c.1320
 K  K  I  Y  A  M  G  G  G  S  Y  G  K  L  F  E  S  V  E  C         p.440

          .         .         .         .         .    | 09    .    g.55391
 TATGATCCCAGGACCCAGCAGTGGACTGCCATATGTCCACTAAAAGAGAGGAG | GTTTGGA    c.1380
 Y  D  P  R  T  Q  Q  W  T  A  I  C  P  L  K  E  R  R  |  F  G      p.460

          .         .         .         .         .         .       g.55451
 GCGGTGGCCTGTGGAGTTGCTATGGAGCTGTATGTGTTTGGGGGAGTCCGAAGTCGTGAG       c.1440
 A  V  A  C  G  V  A  M  E  L  Y  V  F  G  G  V  R  S  R  E         p.480

          .         .         .         .         .         .       g.55511
 GACGCCCAGGGTAGCGAGATGGTAACTTGCAAGTCCGAGTTCTACCATGATGAGTTTAAA       c.1500
 D  A  Q  G  S  E  M  V  T  C  K  S  E  F  Y  H  D  E  F  K         p.500

    | 10     .         .         .         .         .         .    g.67311
 AG | GTGGATCTATCTTAACGACCAGAATTTATGCATCCCCGCCAGTTCCTCTTTTGTTTAT    c.1560
 R  |  W  I  Y  L  N  D  Q  N  L  C  I  P  A  S  S  S  F  V  Y      p.520

          .         .         .         .         .   | 11     .    g.67457
 GGAGCTGTACCTATAGGAGCCAGTATTTATGTTATTGGAGATCTTGATACAG | GTACCAAT    c.1620
 G  A  V  P  I  G  A  S  I  Y  V  I  G  D  L  D  T  G |   T  N      p.540

          .         .         .         .         .         .       g.67517
 TACGACTACGTGCGTGAGTTTAAAAGAAGCACAGGAACCTGGCACCACACTAAACCACTC       c.1680
 Y  D  Y  V  R  E  F  K  R  S  T  G  T  W  H  H  T  K  P  L         p.560

          .         .         .         .         .         .       g.67577
 CTTCCATCCGACCTTCGCCGTACAGGATGTGCAGCCTTACGCATTGCGAATTGCAAGCTT       c.1740
 L  P  S  D  L  R  R  T  G  C  A  A  L  R  I  A  N  C  K  L         p.580

          .         .         .         .         .                 g.67631
 TTCCGCCTGCAGCTTCAGCAAGGCTTATTCCGTATTCGTGTTCATTCCCCTTGA             c.1794
 F  R  L  Q  L  Q  Q  G  L  F  R  I  R  V  H  S  P  X               p.597

          .         .         .         .         .         .       g.67691
 ggaggaagcagagcagagtgcgagatcctgacccaagagcaccataacatagctccgaaa       c.*60

          .         .         .         .         .         .       g.67751
 gggagagcagagatggcagctgaaactcactctgtgctgggctttggtatggtaactctt       c.*120

          .         .         .         .         .         .       g.67811
 tggtggttttatgatgcttacaaacttgagctttagctcttgtttgggagaacacgtaac       c.*180

          .         .         .         .         .         .       g.67871
 tgttgaaaaactacctgggaggagtgagttcctccagttaaatgtggctgtagatgttgg       c.*240

          .         .         .         .         .         .       g.67931
 aggctagggaggctagtaaatatcaaaaggaaaagggagtgggaattgctatcatgtaaa       c.*300

          .         .         .         .         .         .       g.67991
 atatcaaagttaaaatactaaggtgcattttccctgaagggaactcatgtctgactgctg       c.*360

          .         .         .         .         .         .       g.68051
 tattcaaatacgtagctttggtaacaaacaaaatccgtatatgcaaatcaacatatccaa       c.*420

          .         .         .         .         .         .       g.68111
 acatgccaagactgcttttccactgcacttggaaggatatattatgcctaaccctgccca       c.*480

          .         .         .         .         .         .       g.68171
 acaaattaaggtttgtgcctaaaatgttagattggactgtatgccagttagtctccattt       c.*540

          .         .         .         .         .         .       g.68231
 attcctagtactctgtcctaagaatctttttaaaactatatcatgatgaattgaaatgaa       c.*600

          .         .         .         .         .         .       g.68291
 gataaaattgctcttttgtaactttatcttagtaatgtaaagattcagtaaattgatgag       c.*660

          .         .         .         .         .         .       g.68351
 tcaggttgcagccctcatgtgaactgaaagaagttgctcgcttctgtgttgacttagatc       c.*720

          .         .         .         .         .         .       g.68411
 aagacacgtcacgcatcctttctggggtagtacctgtggagccgggaagggtctcctgca       c.*780

          .         .         .         .         .         .       g.68471
 gtgccattctgccttctcaatgagcaaaaccattttctaagtatgaggatattagtgagt       c.*840

          .         .         .         .         .         .       g.68531
 aggagattttataaaagaaagacctgagtcagacaaataataaaggtctgctgtggctaa       c.*900

          .         .         .         .         .         .       g.68591
 aaaagcaaaaacaaaaaagctatccagacaaaatacatagggatcagaaactttttcata       c.*960

          .         .         .         .         .         .       g.68651
 taacctgtctgaaagcacacaaagtcttgtttactactgtttagggtttgaaaacttgtc       c.*1020

          .         .         .         .         .         .       g.68711
 ttagaatgcgaatctgtgttaagaatctagtctttgtaatagaagtttcccagtggcatt       c.*1080

          .         .         .         .         .         .       g.68771
 cactagtgagagttttagacaaattatgttacgagtaaagtttggctggtagaataaact       c.*1140

          .         .         .         .         .         .       g.68831
 acctcaacttaatttcattctgttcatagtagagcaaattaatcttttcctccttccctc       c.*1200

          .         .         .         .         .         .       g.68891
 ctttcctatctctcattctcacctcaacccactttaccccacttctcattgggggaaaaa       c.*1260

          .         .         .         .         .         .       g.68951
 tgtctttcgttcgtggaacgtatcttgtaagatattttgttttccacttgaattacacca       c.*1320

          .         .         .         .         .         .       g.69011
 ccctagtgtgaaatcggggacttcaaagtgcttgattccttcctaaattgaattttatgc       c.*1380

          .         .         .         .         .         .       g.69071
 aatgtcaaatttctaatcaatttaatatacagtacttcatttttaattgttttctaaaaa       c.*1440

          .         .         .         .         .         .       g.69131
 aaaggttttttttttccttttggaatatggctgtaagaagcagcattttgtcttattaac       c.*1500

          .         .         .         .         .         .       g.69191
 acatgtataaaggtatcctttggttttaagtcgagaacaggaatttcttctagaaacttc       c.*1560

          .         .         .         .         .         .       g.69251
 ctgtatggaacgtttatatgcaattaacatgcatatgaaaaacatcacttacgttctccc       c.*1620

          .         .         .         .         .         .       g.69311
 acccatagacataaaaaagggtgacctgtgattttttttcttatacctgctggaagtcag       c.*1680

          .         .         .         .         .         .       g.69371
 tacaatgcgtcaaaagttgctgaaagatgctgtgcctatggggttctagagagtgttgag       c.*1740

          .         .         .         .         .         .       g.69431
 tgtggtacattaactctccattttagccagaagatacctgataagagaaggtgtaaggtt       c.*1800

          .         .         .         .         .         .       g.69491
 tttatcttatatgccagaggcaccaggccagatgtgccgcacagtcatgtaattcaatca       c.*1860

          .         .         .         .         .         .       g.69551
 tgtttaatatgtcagtcaaaaccaaattcagaattgttttgtgtaccagtcagctgttgt       c.*1920

          .         .         .         .         .         .       g.69611
 ctgcacattttcgtagtgacagtgtggagatctttttaatgaaagcaaactatgtggcct       c.*1980

          .         .         .         .         .         .       g.69671
 ctgcaaagaaaggaagatttttctttttacaactagatattagttttagaggaaggaaat       c.*2040

          .         .         .         .         .         .       g.69731
 agctgaaaaactaaatttgctttggtgaaatgtcctgtacagaacagtaccttggcattc       c.*2100

          .         .         .         .         .         .       g.69791
 agcagctgtaattggggaacattaaaacagtaactgacatccagttaaagccacgatcgt       c.*2160

          .         .         .         .         .         .       g.69851
 cagcaattctccttttttaatttctgatatttaaagttttttttccagtctacaccaggc       c.*2220

          .         .         .         .         .         .       g.69911
 ctctccaaggagacagttcattatttaggagtgaatgtgttcctcttgcaatattatcag       c.*2280

          .         .         .         .         .         .       g.69971
 tacctgcatgacttggtaaattcattttataaaaatagtgttttttttttttaatttcag       c.*2340

          .         .         .         .         .         .       g.70031
 ttcattgactctataactgcagaaattagataatgttttataaaataaatttgccacata       c.*2400

          .         .         .         .         .         .       g.70091
 atatgggatgcaataaccaacaaagctgctaagtgccaaactgttattttactatatata       c.*2460

          .         .         .         .         .         .       g.70151
 aatattaaaatattgtgttgaagtatagggatgtatttaattttactatgctccaacatt       c.*2520

          .         .         .         .         .         .       g.70211
 aatcatgactcttttgtaaattacagttatttcagtattgtaaaataaatgttgactcat       c.*2580

          .         .                                               g.70233
 ttcatgcaggtttgtgttttaa                                             c.*2602

 (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 Gigaxonin 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 mutations, 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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