dyslexia susceptibility 1 candidate 1 (DYX1C1) - coding DNA reference sequence

(used for variant description)

(last modified June 20, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_130810.3 in the DYX1C1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_021213.1, covering DYX1C1 transcript NM_130810.3.

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

 (upstream sequence)
                                                                    g.5008
                                                     tcctctcc       c.-361

 .         .         .         .         .         .                g.5068
 tattatgcaaacccacaccatggatccagcagactactctggccccagcatgctgctcct       c.-301

 .         .         .         .         .     | 02   .             g.14665
 tgggatgatgggagaagggggaaacctgtgttttctcttggtttt | agggtatgggtctac    c.-241

 .         .         .         .         .         .                g.14725
 ttctttgaacattcgctcagatcgtaaggtaaccccaagaatcggcatcactctctggtc       c.-181

 .         .         .         .         .         .                g.14785
 tgggcgcctggatagtcacgcatggagtccgcgaggtgctggcgccggagcacgctggga       c.-121

 .         .         .         .         .         .                g.14845
 acgccgggctcccggccggcctgacccggaagggctggcgcatggtaaccccagcttccc       c.-61

 .         .         .         .         .         .                g.14905
 tagcaaccaagcaggcgcaagaagcaaccagccgcgctatccgctcccgttgctaccgga       c.-1

          .         .         .         .         .         .       g.14965
 ATGCCTCTTCAGGTTAGCGATTACAGCTGGCAGCAGACGAAGACTGCGGTCTTTCTGTCT       c.60
 M  P  L  Q  V  S  D  Y  S  W  Q  Q  T  K  T  A  V  F  L  S         p.20

          .         .         .         .         .         .       g.15025
 CTGCCCCTCAAAGGCGTGTGCGTCAGAGACACGGACGTGTTCTGCACGGAAAACTATCTG       c.120
 L  P  L  K  G  V  C  V  R  D  T  D  V  F  C  T  E  N  Y  L         p.40

     | 03    .         .         .         .         .         .    g.15432
 AAG | GTCAACTTTCCTCCATTTTTATTTGAGGCATTTCTTTATGCTCCCATAGACGATGAG    c.180
 K   | V  N  F  P  P  F  L  F  E  A  F  L  Y  A  P  I  D  D  E      p.60

          .         .         .         .         .         .       g.15492
 AGCAGCAAAGCAAAGATTGGGAATGACACCATTGTCTTCACCTTGTATAAAAAAGAAGCG       c.240
 S  S  K  A  K  I  G  N  D  T  I  V  F  T  L  Y  K  K  E  A         p.80

          .         .         .  | 04      .         .         .    g.22007
 GCCATGTGGGAGACCCTTTCTGTGACGGGTG | TTGACAAAGAGATGATGCAAAGAATTAGA    c.300
 A  M  W  E  T  L  S  V  T  G  V |   D  K  E  M  M  Q  R  I  R      p.100

          .         .         .         .         .         .       g.22067
 GAAAAATCTATTTTACAAGCACAAGAGAGAGCAAAAGAAGCTACAGAAGCAAAAGCTGCA       c.360
 E  K  S  I  L  Q  A  Q  E  R  A  K  E  A  T  E  A  K  A  A         p.120

          .         .         .         .      | 05  .         .    g.46088
 GCAAAGCGGGAAGATCAAAAATACGCACTAAGTGTCATGATGAAG | ATTGAAGAAGAAGAG    c.420
 A  K  R  E  D  Q  K  Y  A  L  S  V  M  M  K   | I  E  E  E  E      p.140

          .         .         .         .         .         .       g.46148
 AGGAAAAAAATAGAAGATATGAAAGAAAATGAACGGATAAAAGCCACTAAAGCATTGGAA       c.480
 R  K  K  I  E  D  M  K  E  N  E  R  I  K  A  T  K  A  L  E         p.160

          .         .         .         .         .         .       g.46208
 GCCTGGAAAGAATATCAAAGAAAAGCTGAGGAGCAAAAAAAAATTCAGAGAGAAGAGAAA       c.540
 A  W  K  E  Y  Q  R  K  A  E  E  Q  K  K  I  Q  R  E  E  K         p.180

          .         .         .         .         .         .       g.46268
 TTATGTCAAAAAGAAAAGCAAATTAAAGAAGAAAGAAAAAAAATAAAATATAAGAGTCTT       c.600
 L  C  Q  K  E  K  Q  I  K  E  E  R  K  K  I  K  Y  K  S  L         p.200

          .         .         .        | 06.         .         .    g.62890
 ACTAGAAATTTGGCATCTAGAAATCTTGCTCCAAAAG | GGAGAAATTCAGAAAATATATTT    c.660
 T  R  N  L  A  S  R  N  L  A  P  K  G |   R  N  S  E  N  I  F      p.220

          .         .         .         .         .         .       g.62950
 ACTGAGAAGTTAAAGGAAGACAGTATTCCTGCTCCTCGCTCTGTTGGCAGTATTAAAATC       c.720
 T  E  K  L  K  E  D  S  I  P  A  P  R  S  V  G  S  I  K  I         p.240

          .         .         .         .         .         .       g.63010
 AACTTTACCCCTCGAGTATTCCCAACAGCTCTTCGTGAATCACAAGTAGCAGAAGAGGAG       c.780
 N  F  T  P  R  V  F  P  T  A  L  R  E  S  Q  V  A  E  E  E         p.260

     | 07    .         .         .         .         .         .    g.73710
 GAG | TGGCTACACAAACAAGCTGAGGCACGAAGAGCAATGAATACTGACATAGCTGAACTT    c.840
 E   | W  L  H  K  Q  A  E  A  R  R  A  M  N  T  D  I  A  E  L      p.280

          .         .         .         .         .    | 08    .    g.78183
 TGCGATTTAAAAGAAGAAGAAAAGAACCCAGAATGGTTGAAGGATAAAGGAAA | CAAATTG    c.900
 C  D  L  K  E  E  E  K  N  P  E  W  L  K  D  K  G  N  |  K  L      p.300

          .         .         .         .         .         .       g.78243
 TTTGCAACGGAAAACTATTTGGCAGCTATCAATGCATATAATTTAGCCATAAGACTAAAT       c.960
 F  A  T  E  N  Y  L  A  A  I  N  A  Y  N  L  A  I  R  L  N         p.320

          .         .         .         .         .         .       g.78303
 AATAAGATGCCACTATTGTATTTGAACCGGGCTGCTTGCCACCTAAAACTAAAAAACTTA       c.1020
 N  K  M  P  L  L  Y  L  N  R  A  A  C  H  L  K  L  K  N  L         p.340

          .         .        | 09.         .         .         .    g.80665
 CACAAGGCTATTGAAGATTCTTCTAAG | GCACTGGAATTATTGATGCCACCTGTTACAGAC    c.1080
 H  K  A  I  E  D  S  S  K   | A  L  E  L  L  M  P  P  V  T  D      p.360

          .         .         .         .         .         .       g.80725
 AATGCTAATGCAAGAATGAAGGCACATGTACGACGTGGAACAGCATTCTGTCAACTAGAA       c.1140
 N  A  N  A  R  M  K  A  H  V  R  R  G  T  A  F  C  Q  L  E         p.380

          .    | 10    .         .         .         .         .    g.82502
 TTGTATGTAGAAG | GCCTACAGGATTATGAAGCGGCACTTAAGATTGATCCATCCAACAAA    c.1200
 L  Y  V  E  G |   L  Q  D  Y  E  A  A  L  K  I  D  P  S  N  K      p.400

          .         .         .         .         .         .       g.82562
 ATTGTACAAATTGATGCTGAGAAGATTCGGAATGTAATTCAAGGAACAGAACTAAAATCT       c.1260
 I  V  Q  I  D  A  E  K  I  R  N  V  I  Q  G  T  E  L  K  S         p.420

                                                                    g.82565
 TAA                                                                c.1263
 X                                                                  p.420

          .         .         .         .         .         .       g.82625
 tgactattagaagtaactaagtattgttataagttttttaaaaacaactggaggcatctt       c.*60

          .         .         .         .         .         .       g.82685
 tgtacatattatggccagttgtacagaatcgctttctgtttagtactttagttctgttga       c.*120

          .         .         .         .         .         .       g.82745
 gggcaaaatattataaatctatagaaaataaactgtttgacttgaatcatttctgaataa       c.*180

          .         .         .         .         .         .       g.82805
 gtaaatctaaataagaatctattttaattccttatttcttcatattaatacatatgtata       c.*240

          .         .         .         .         .         .       g.82865
 cttttttgtgttactgaattaagcttgcccttgtaacaaaatatgttttggtatagttac       c.*300

          .         .         .         .         .         .       g.82925
 caggacacttactgattaatttttaacaaggtagaattttaaaataaaagatttataaat       c.*360

                                                                    g.82927
 aa                                                                 c.*362

 (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 Dyslexia susceptibility 1 candidate 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 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.