sialidase 1 (lysosomal sialidase) (NEU1) - coding DNA reference sequence

(used for variant description)

(last modified April 14, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_000434.3 in the NEU1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000006.11, covering NEU1 transcript NM_000434.3.

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

 (upstream sequence)
                               .         .         .                g.5036
                         gagctacttgaagaccaattagagtccgggaagcgc       c.-121

 .         .         .         .         .         .                g.5096
 ggcggggcctccagaccggggcgggcttaagggtgacatctgcgctttaaagggtccggg       c.-61

 .         .         .         .         .         .                g.5156
 tcagctgactcccgactctgtggagtctagctgccagggtcgcggcagctgcggggagag       c.-1

          .         .         .         .         .         .       g.5216
 ATGACTGGGGAGCGACCCAGCACGGCGCTCCCGGACAGACGCTGGGGGCCGCGGATTCTG       c.60
 M  T  G  E  R  P  S  T  A  L  P  D  R  R  W  G  P  R  I  L         p.20

          .         .         .         .         .         .       g.5276
 GGCTTCTGGGGAGGCTGTAGGGTTTGGGTGTTTGCCGCGATCTTCCTGCTGCTGTCTCTG       c.120
 G  F  W  G  G  C  R  V  W  V  F  A  A  I  F  L  L  L  S  L         p.40

          .         .         .          | 02        .         .    g.5762
 GCAGCCTCCTGGTCCAAGGCTGAGAACGACTTCGGTCTG | GTGCAGCCGCTGGTGACCATG    c.180
 A  A  S  W  S  K  A  E  N  D  F  G  L   | V  Q  P  L  V  T  M      p.60

          .         .         .         .         .         .       g.5822
 GAGCAACTGCTGTGGGTGAGCGGGAGACAGATCGGCTCAGTGGACACCTTCCGCATCCCG       c.240
 E  Q  L  L  W  V  S  G  R  Q  I  G  S  V  D  T  F  R  I  P         p.80

          .         .         .         .         .         .       g.5882
 CTCATCACAGCCACTCCGCGGGGCACTCTTCTCGCCTTTGCTGAGGCGAGGAAAATGTCC       c.300
 L  I  T  A  T  P  R  G  T  L  L  A  F  A  E  A  R  K  M  S         p.100

          .         .         .         .         .   | 03     .    g.6490
 TCATCCGATGAGGGGGCCAAGTTCATCGCCCTGCGGAGGTCCATGGACCAGG | GCAGCACA    c.360
 S  S  D  E  G  A  K  F  I  A  L  R  R  S  M  D  Q  G |   S  T      p.120

          .         .         .         .         .         .       g.6550
 TGGTCTCCTACAGCGTTCATTGTCAATGATGGGGATGTCCCCGATGGGCTGAACCTTGGG       c.420
 W  S  P  T  A  F  I  V  N  D  G  D  V  P  D  G  L  N  L  G         p.140

          .         .         .         .         .         .       g.6610
 GCAGTAGTGAGCGATGTTGAGACAGGAGTAGTATTTCTTTTCTACTCCCTTTGTGCTCAC       c.480
 A  V  V  S  D  V  E  T  G  V  V  F  L  F  Y  S  L  C  A  H         p.160

          .         .         .         .         .         .       g.6670
 AAGGCCGGCTGCCAGGTGGCCTCTACCATGTTGGTATGGAGCAAGGATGATGGTGTTTCC       c.540
 K  A  G  C  Q  V  A  S  T  M  L  V  W  S  K  D  D  G  V  S         p.180

          .         .         .         .         .         .       g.6730
 TGGAGCACACCCCGGAATCTCTCCCTGGATATTGGCACTGAAGTGTTTGCCCCTGGACCG       c.600
 W  S  T  P  R  N  L  S  L  D  I  G  T  E  V  F  A  P  G  P         p.200

          .      | 04  .         .         .         .         .    g.7356
 GGCTCTGGTATTCAG | AAACAGCGGGAGCCACGGAAGGGCCGCCTCATCGTGTGTGGCCAT    c.660
 G  S  G  I  Q   | K  Q  R  E  P  R  K  G  R  L  I  V  C  G  H      p.220

          .         .         .         .         .         .       g.7416
 GGGACGCTGGAGCGGGACGGAGTCTTCTGTCTCCTCAGCGATGATCATGGTGCCTCCTGG       c.720
 G  T  L  E  R  D  G  V  F  C  L  L  S  D  D  H  G  A  S  W         p.240

          .         .         .         .         .         .       g.7476
 CGCTACGGAAGTGGGGTCAGCGGCATCCCCTACGGTCAGCCCAAGCAGGAAAATGATTTC       c.780
 R  Y  G  S  G  V  S  G  I  P  Y  G  Q  P  K  Q  E  N  D  F         p.260

          .         | 05         .         .         .         .    g.7710
 AATCCTGATGAATGCCAG | CCCTATGAGCTCCCAGATGGCTCAGTCGTCATCAATGCCCGA    c.840
 N  P  D  E  C  Q   | P  Y  E  L  P  D  G  S  V  V  I  N  A  R      p.280

          .         .         .         .         .         .       g.7770
 AACCAGAACAACTACCACTGCCACTGCCGAATTGTCCTCCGCAGCTATGATGCCTGTGAT       c.900
 N  Q  N  N  Y  H  C  H  C  R  I  V  L  R  S  Y  D  A  C  D         p.300

          .         .         .         .         .         .       g.7830
 ACACTAAGGCCCCGTGATGTGACCTTCGACCCTGAGCTCGTGGACCCTGTGGTAGCTGCA       c.960
 T  L  R  P  R  D  V  T  F  D  P  E  L  V  D  P  V  V  A  A         p.320

          .         .         .         .         .         .       g.7890
 GGAGCTGTAGTCACCAGCTCCGGCATTGTCTTCTTCTCCAACCCAGCACATCCAGAGTTC       c.1020
 G  A  V  V  T  S  S  G  I  V  F  F  S  N  P  A  H  P  E  F         p.340

   | 06      .         .         .         .         .         .    g.8046
 C | GAGTGAACCTGACCCTGCGATGGAGCTTCAGCAATGGTACCTCATGGCGGAAAGAGACA    c.1080
 R |   V  N  L  T  L  R  W  S  F  S  N  G  T  S  W  R  K  E  T      p.360

          .         .         .         .         .         .       g.8106
 GTCCAGCTATGGCCAGGCCCCAGTGGCTATTCATCCCTGGCAACCCTGGAGGGCAGCATG       c.1140
 V  Q  L  W  P  G  P  S  G  Y  S  S  L  A  T  L  E  G  S  M         p.380

          .         .         .         .         .         .       g.8166
 GATGGAGAGGAGCAGGCCCCCCAGCTCTACGTCCTGTATGAGAAAGGCCGGAACCACTAC       c.1200
 D  G  E  E  Q  A  P  Q  L  Y  V  L  Y  E  K  G  R  N  H  Y         p.400

          .         .         .         .                           g.8214
 ACAGAGAGCATCTCCGTGGCCAAAATCAGTGTCTATGGGACACTCTGA                   c.1248
 T  E  S  I  S  V  A  K  I  S  V  Y  G  T  L  X                     p.415

          .         .         .         .         .         .       g.8274
 gctgtgccactgccacaggggtattctgccttcaggactctgccttcaggaacacgggtc       c.*60

          .         .         .         .         .         .       g.8334
 tgtagagggtctgctggagacgcctgaaagacagttccatcttcctttagactccagcct       c.*120

          .         .         .         .         .         .       g.8394
 tggcaaaatcaccttccctttaccagggaaatcacttcctttaggactgaaagctaggcg       c.*180

          .         .         .         .         .         .       g.8454
 tcctctcccacaaaaaagtcctgccctcatctgagaatactgtctttccatatggctaag       c.*240

          .         .         .         .         .         .       g.8514
 tgtggccccaccaccctctctgccctcccgggacattgattggtcctgtcttgggcaggt       c.*300

          .         .         .         .         .         .       g.8574
 ctagtgagctgtagaattgaatcaatgtgaactcagggaactggggaaggctgagcctcc       c.*360

          .         .         .         .         .         .       g.8634
 tctttggtgttgcggtaagataaccgacagggctggtgaaagtccccagatggcaggata       c.*420

          .         .         .         .         .         .       g.8694
 tttggtttcagagtaaggactaggtgcaccaccatgactgactatcaatcaaaatgtttg       c.*480

          .         .         .         .         .         .       g.8754
 taacttaaaatttttaatgaaggataatgaatatttgtagagtctctatggttctgtcaa       c.*540

          .         .         .         .         .         .       g.8814
 tgcacatcttcgtgtctgttttcctcatgtatccttgtgagcctgggtgagttctgggga       c.*600

          .         .         .         .         .         .       g.8874
 gagacctgatgtgcgtactgcctgtgaaaatctgactttggcaaatcaaatcctcttttc       c.*660

                                                                    g.8881
 cttttga                                                            c.*667

 (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 Sialidase 1 (lysosomal sialidase) 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.