N-acetylneuraminic acid synthase (NANS) - coding DNA reference sequence

(used for variant description)

(last modified October 15, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_018946.3 in the NANS gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_052789.1, covering NANS transcript NM_018946.3.

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

 (upstream sequence)
                                                   .                g.5012
                                                 cggcgaccgcgg       c.-121

 .         .         .         .         .         .                g.5072
 gctgacgtggcggggctggcgtgtgggtctcgcagcgttgctcacagaacagagtagagg       c.-61

 .         .         .         .         .         .                g.5132
 cggcggcggcggcggccggacccagactggtagtgaggctttggaccccgagccgctgca       c.-1

          .         .         .         .         .         .       g.5192
 ATGCCGCTGGAGCTGGAGCTGTGTCCCGGGCGCTGGGTGGGCGGGCAACACCCGTGCTTC       c.60
 M  P  L  E  L  E  L  C  P  G  R  W  V  G  G  Q  H  P  C  F         p.20

          .         .         .         .         .         .       g.5252
 ATCATTGCCGAGATCGGCCAGAACCACCAGGGCGACCTGGACGTAGCCAAGCGCATGATC       c.120
 I  I  A  E  I  G  Q  N  H  Q  G  D  L  D  V  A  K  R  M  I         p.40

          .   | 02     .         .         .         .         .    g.9153
 CGCATGGCCAAG | GAGTGTGGGGCTGATTGTGCTAAGTTCCAGAAGAGTGAGCTAGAATTC    c.180
 R  M  A  K   | E  C  G  A  D  C  A  K  F  Q  K  S  E  L  E  F      p.60

          .         .         .         .         .         .       g.9213
 AAGTTTAATCGGAAAGCCTTGGAGAGGCCATACACCTCGAAGCATTCCTGGGGGAAGACG       c.240
 K  F  N  R  K  A  L  E  R  P  Y  T  S  K  H  S  W  G  K  T         p.80

          .         .         .         .         .         .       g.9273
 TACGGGGAGCACAAACGACATCTGGAGTTCAGCCATGACCAGTACAGGGAGCTGCAGAGG       c.300
 Y  G  E  H  K  R  H  L  E  F  S  H  D  Q  Y  R  E  L  Q  R         p.100

          .         .         .         .         | 03         .    g.25253
 TACGCCGAGGAGGTTGGGATCTTCTTCACTGCCTCTGGCATGGATGAG | ATGGCAGTTGAA    c.360
 Y  A  E  E  V  G  I  F  F  T  A  S  G  M  D  E   | M  A  V  E      p.120

          .         .         .         .         .         .       g.25313
 TTCCTGCATGAACTGAATGTTCCATTTTTCAAAGTTGGATCTGGAGACACTAATAATTTT       c.420
 F  L  H  E  L  N  V  P  F  F  K  V  G  S  G  D  T  N  N  F         p.140

          .         .         | 04         .         .         .    g.26548
 CCTTATCTGGAAAAGACAGCCAAAAAAG | GTCGCCCAATGGTGATCTCCAGTGGGATGCAG    c.480
 P  Y  L  E  K  T  A  K  K  G |   R  P  M  V  I  S  S  G  M  Q      p.160

          .         .         .         .         .         .       g.26608
 TCAATGGACACCATGAAGCAAGTTTATCAGATCGTGAAGCCCCTCAACCCCAACTTCTGC       c.540
 S  M  D  T  M  K  Q  V  Y  Q  I  V  K  P  L  N  P  N  F  C         p.180

          .         .         .         .         .         .       g.26668
 TTCTTGCAGTGTACCAGCGCATACCCGCTCCAGCCTGAGGACGTCAACCTGCGGGTCATC       c.600
 F  L  Q  C  T  S  A  Y  P  L  Q  P  E  D  V  N  L  R  V  I         p.200

     | 05    .         .         .         .         .         .    g.29196
 TCG | GAATATCAGAAGCTCTTTCCTGACATTCCCATAGGGTATTCTGGGCATGAAACAGGC    c.660
 S   | E  Y  Q  K  L  F  P  D  I  P  I  G  Y  S  G  H  E  T  G      p.220

          .         .         .         .         .         .       g.29256
 ATAGCGATATCTGTGGCCGCAGTGGCTCTGGGGGCCAAGGTGTTGGAACGTCACATAACT       c.720
 I  A  I  S  V  A  A  V  A  L  G  A  K  V  L  E  R  H  I  T         p.240

          .         .         .         .         .         .       g.29316
 TTGGACAAGACCTGGAAGGGGAGTGACCACTCGGCCTCGCTGGAGCCTGGAGAACTGGCC       c.780
 L  D  K  T  W  K  G  S  D  H  S  A  S  L  E  P  G  E  L  A         p.260

          .         .         .         .         .         .       g.29376
 GAGCTGGTGCGGTCAGTGCGTCTTGTGGAGCGTGCCCTGGGCTCCCCAACCAAGCAGCTG       c.840
 E  L  V  R  S  V  R  L  V  E  R  A  L  G  S  P  T  K  Q  L         p.280

          .         .         . | 06       .         .         .    g.31199
 CTGCCCTGTGAGATGGCCTGCAATGAGAAG | CTGGGCAAGTCTGTGGTGGCCAAAGTGAAA    c.900
 L  P  C  E  M  A  C  N  E  K   | L  G  K  S  V  V  A  K  V  K      p.300

          .         .         .         .         .         .       g.31259
 ATTCCGGAAGGCACCATTCTAACAATGGACATGCTCACCGTGAAGGTGGGTGAGCCCAAA       c.960
 I  P  E  G  T  I  L  T  M  D  M  L  T  V  K  V  G  E  P  K         p.320

          .         .         .         .         .         .       g.31319
 GGCTATCCTCCTGAAGACATCTTTAATCTAGTGGGCAAGAAGGTCCTGGTCACTGTTGAA       c.1020
 G  Y  P  P  E  D  I  F  N  L  V  G  K  K  V  L  V  T  V  E         p.340

          .         .         .         .         .         .       g.31379
 GAGGATGACACCATCATGGAAGAATTGGTAGATAATCATGGCAAAAAAATCAAGTCTTAA       c.1080
 E  D  D  T  I  M  E  E  L  V  D  N  H  G  K  K  I  K  S  X         p.359

          .         .                                               g.31407
 aaataaagtgccattctctgaattctca                                       c.*28

 (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 N-acetylneuraminic acid synthase 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.