cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS) - 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_018686.4 in the CMAS gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000012.11, covering CMAS transcript NM_018686.4.

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

 (upstream sequence)
                                                                    g.5008
                                                     gggagggg       c.-121

 .         .         .         .         .         .                g.5068
 gcggggcgagggacggccgcgcgcgccagctgccaggcggggatcgggcggcgccgagct       c.-61

 .         .         .         .         .         .                g.5128
 gaggtggtgagggactagctcccggatgtggagaagctggggagaaggcgtgggaggaag       c.-1

          .         .         .         .         .         .       g.5188
 ATGGACTCGGTGGAGAAGGGGGCCGCCACCTCCGTCTCCAACCCGCGGGGGCGACCGTCC       c.60
 M  D  S  V  E  K  G  A  A  T  S  V  S  N  P  R  G  R  P  S         p.20

          .         .         .         .         .         .       g.5248
 CGGGGCCGGCCGCCGAAGCTGCAGCGCAACTCTCGCGGCGGCCAGGGCCGAGGTGTGGAG       c.120
 R  G  R  P  P  K  L  Q  R  N  S  R  G  G  Q  G  R  G  V  E         p.40

          .         .         .         .         .         .       g.5308
 AAGCCCCCGCACCTGGCAGCCCTAATTCTGGCCCGGGGAGGCAGCAAAGGCATCCCCCTG       c.180
 K  P  P  H  L  A  A  L  I  L  A  R  G  G  S  K  G  I  P  L         p.60

          .         .         .         .         .         .       g.5368
 AAGAACATTAAGCACCTGGCGGGGGTCCCGCTCATTGGCTGGGTCCTGCGTGCGGCCCTG       c.240
 K  N  I  K  H  L  A  G  V  P  L  I  G  W  V  L  R  A  A  L         p.80

          .         . | 02       .         .         .         .    g.14013
 GATTCAGGGGCCTTCCAGAG | TGTATGGGTTTCGACAGACCATGATGAAATTGAGAATGTG    c.300
 D  S  G  A  F  Q  S  |  V  W  V  S  T  D  H  D  E  I  E  N  V      p.100

          .         .         .         .         .         .       g.14073
 GCCAAACAATTTGGTGCACAAGTTCATCGAAGAAGTTCTGAAGTTTCAAAAGACAGCTCT       c.360
 A  K  Q  F  G  A  Q  V  H  R  R  S  S  E  V  S  K  D  S  S         p.120

          .         .         .         .    | 03    .         .    g.14296
 ACCTCACTAGATGCCATCATAGAATTTCTTAATTATCATAATG | AGGTTGACATTGTAGGA    c.420
 T  S  L  D  A  I  I  E  F  L  N  Y  H  N  E |   V  D  I  V  G      p.140

          .         .         .         .         .         .       g.14356
 AATATTCAAGCTACTTCTCCATGTTTACATCCTACTGATCTTCAAAAAGTTGCAGAAATG       c.480
 N  I  Q  A  T  S  P  C  L  H  P  T  D  L  Q  K  V  A  E  M         p.160

          .         .         .         .         .         .       g.14416
 ATTCGAGAAGAAGGATATGATTCTGTTTTCTCTGTTGTGAGACGCCATCAGTTTCGATGG       c.540
 I  R  E  E  G  Y  D  S  V  F  S  V  V  R  R  H  Q  F  R  W         p.180

          .          | 04        .         .         .         .    g.17432
 AGTGAAATTCAGAAAGGAG | TTCGTGAAGTGACCGAACCTCTGAATTTAAATCCAGCTAAA    c.600
 S  E  I  Q  K  G  V |   R  E  V  T  E  P  L  N  L  N  P  A  K      p.200

          .         .         .         .         .         .       g.17492
 CGGCCTCGTCGACAAGACTGGGATGGAGAATTATATGAAAATGGCTCATTTTATTTTGCT       c.660
 R  P  R  R  Q  D  W  D  G  E  L  Y  E  N  G  S  F  Y  F  A         p.220

          .         .         .    | 05    .         .         .    g.19683
 AAAAGACATTTGATAGAGATGGGTTACTTGCAG | GGTGGAAAAATGGCATACTACGAAATG    c.720
 K  R  H  L  I  E  M  G  Y  L  Q   | G  G  K  M  A  Y  Y  E  M      p.240

          .         .         .         .         .         .       g.19743
 CGAGCTGAACATAGTGTGGATATAGATGTGGATATTGATTGGCCTATTGCAGAGCAAAGA       c.780
 R  A  E  H  S  V  D  I  D  V  D  I  D  W  P  I  A  E  Q  R         p.260

          | 06         .         .         .         .         .    g.20157
 GTATTAAG | ATATGGCTATTTTGGCAAAGAGAAGCTTAAGGAAATAAAACTTTTGGTTTGC    c.840
 V  L  R  |  Y  G  Y  F  G  K  E  K  L  K  E  I  K  L  L  V  C      p.280

          .         .         .         .         .         .       g.20217
 AATATTGATGGATGTCTCACCAATGGCCACATTTATGTATCAGGAGACCAAAAAGAAATA       c.900
 N  I  D  G  C  L  T  N  G  H  I  Y  V  S  G  D  Q  K  E  I         p.300

          .         .         .         .         .         .       g.20277
 ATATCTTATGATGTAAAAGATGCTATTGGGATAAGTTTATTAAAGAAAAGTGGTATTGAG       c.960
 I  S  Y  D  V  K  D  A  I  G  I  S  L  L  K  K  S  G  I  E         p.320

  | 07       .         .         .         .         .         .    g.21165
  | GTGAGGCTAATCTCAGAAAGGGCCTGTTCAAAGCAGACGCTGTCTTCTTTAAAACTGGAT    c.1020
  | V  R  L  I  S  E  R  A  C  S  K  Q  T  L  S  S  L  K  L  D      p.340

          .         .         .         .         .         .       g.21225
 TGCAAAATGGAAGTCAGTGTATCAGACAAGCTAGCAGTTGTAGATGAATGGAGAAAAGAA       c.1080
 C  K  M  E  V  S  V  S  D  K  L  A  V  V  D  E  W  R  K  E         p.360

          .         .         .     | 08   .         .         .    g.23971
 ATGGGCCTGTGCTGGAAAGAAGTGGCATATCTTG | GAAATGAAGTGTCTGATGAAGAGTGC    c.1140
 M  G  L  C  W  K  E  V  A  Y  L  G |   N  E  V  S  D  E  E  C      p.380

          .         .         .         .         .         .       g.24031
 TTGAAGAGAGTGGGCCTAAGTGGCGCTCCTGCTGATGCCTGTTCTACTGCCCAGAAGGCT       c.1200
 L  K  R  V  G  L  S  G  A  P  A  D  A  C  S  T  A  Q  K  A         p.400

          .         .         .         .         .         .       g.24091
 GTTGGATACATTTGCAAATGTAATGGTGGCCGTGGTGCCATCCGAGAATTTGCAGAGCAC       c.1260
 V  G  Y  I  C  K  C  N  G  G  R  G  A  I  R  E  F  A  E  H         p.420

          .         .         .         .                           g.24136
 ATTTGCCTACTAATGGAAAAGGTTAATAATTCATGCCAAAAATAG                      c.1305
 I  C  L  L  M  E  K  V  N  N  S  C  Q  K  X                        p.434

          .         .         .         .         .         .       g.24196
 aaattagcgtaatattgagaaaaaaatgatacagccttcttcagccagtttgcttttatt       c.*60

          .         .         .         .         .         .       g.24256
 tttgattaagtaaattccatgttgtaatgttacagagagtgtgatttggtttgtgatata       c.*120

          .         .         .         .         .         .       g.24316
 tatatattgtgctctacttttctctttacgcaagataattatttagagactgattacagt       c.*180

          .         .         .         .         .         .       g.24376
 ctttctcagatttttagtaaatgcaagtaagaacatcatcaaagttcactttgtattgta       c.*240

          .         .         .         .         .         .       g.24436
 ccctgtaaaactgtgtgtttgtgtgctttcaaagatgttgggattttatttatctgggga       c.*300

          .         .         .         .         .         .       g.24496
 cagtgtgtatggtaagacatgcccttctattaataaaactacatttctcaaacttgatga       c.*360

                                                                    g.24499
 aaa                                                                c.*363

 (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 Cytidine monophosphate N-acetylneuraminic acid synthetase 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.