spermine synthase (SMS) - coding DNA reference sequence

(used for variant description)

(last modified April 4, 2023)

This file was created to facilitate the description of sequence variants on transcript NM_004595.4 in the SMS gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000023.10, covering SMS transcript NM_004595.4.

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

 (upstream sequence)
                                                   .                g.5012
                                                 gtttccaccatt       c.-241

 .         .         .         .         .         .                g.5072
 agcgaggcctcacacccggcgctccaagttcggggctggaggcgtcccggcttcctccct       c.-181

 .         .         .         .         .         .                g.5132
 cccggagcgggaccggccccgcccccgcgccccgggtcgctcccggcggcccctcccacc       c.-121

 .         .         .         .         .         .                g.5192
 tcctagtcctggcctccccgggcgcagcacactcccagccggccgcagcctgacacgccg       c.-61

 .         .         .         .         .         .                g.5252
 cgcggccccccagtctcccgcggctgctcccccaggcatggcacagggcctcgcctcact       c.-1

          .         .         .         .          | 02        .    g.31634
 ATGGCAGCAGCACGGCACAGCACGCTCGACTTCATGCTCGGCGCCAAAG | CTGATGGTGAG    c.60
 M  A  A  A  R  H  S  T  L  D  F  M  L  G  A  K  A |   D  G  E      p.20

          .         .         .         .         .         .       g.31694
 ACCATTCTAAAAGGCCTCCAGTCCATTTTCCAGGAGCAGGGGATGGCGGAGTCGGTGCAC       c.120
 T  I  L  K  G  L  Q  S  I  F  Q  E  Q  G  M  A  E  S  V  H         p.40

          .         .         .         .         . | 03       .    g.36334
 ACCTGGCAGGACCATGGCTATTTAGCAACCTACACAAACAAGAACGGCAG | CTTTGCCAAT    c.180
 T  W  Q  D  H  G  Y  L  A  T  Y  T  N  K  N  G  S  |  F  A  N      p.60

          .         .         .         .         .         .       g.36394
 TTGAGAATTTACCCACATGGATTGGTGTTGCTGGACCTTCAGAGTTATGATGGTGATGCG       c.240
 L  R  I  Y  P  H  G  L  V  L  L  D  L  Q  S  Y  D  G  D  A         p.80

          .         .     | 04   .         .         .         .    g.36970
 CAAGGCAAAGAAGAGATCGACAGT | ATTTTGAACAAAGTAGAGGAAAGAATGAAAGAATTG    c.300
 Q  G  K  E  E  I  D  S   | I  L  N  K  V  E  E  R  M  K  E  L      p.100

          .         .          | 05        .         .         .    g.41519
 AGTCAGGACAGTACTGGGCGGGTGAAACG | ATTACCACCCATAGTGCGAGGAGGAGCCATC    c.360
 S  Q  D  S  T  G  R  V  K  R  |  L  P  P  I  V  R  G  G  A  I      p.120

          .         .         .         .         .         .       g.41579
 GACAGATACTGGCCCACCGCCGACGGGCGCCTGGTTGAATATGACATAGATGAAGTGGTA       c.420
 D  R  Y  W  P  T  A  D  G  R  L  V  E  Y  D  I  D  E  V  V         p.140

          .         .         .         .         .         .       g.41639
 TATGACGAAGATTCACCTTATCAAAATATAAAAATTCTACACTCGAAGCAGTTTGGAAAT       c.480
 Y  D  E  D  S  P  Y  Q  N  I  K  I  L  H  S  K  Q  F  G  N         p.160

          .         .      | 06  .         .         .         .    g.42422
 ATTCTCATCCTTAGTGGGGATGTTA | ATTTGGCAGAGAGTGATTTGGCATATACCCGGGCC    c.540
 I  L  I  L  S  G  D  V  N |   L  A  E  S  D  L  A  Y  T  R  A      p.180

          .         .         .         .         .         .       g.42482
 ATCATGGGCAGTGGCAAAGAAGATTACACTGGCAAAGATGTACTCATTCTGGGAGGTGGA       c.600
 I  M  G  S  G  K  E  D  Y  T  G  K  D  V  L  I  L  G  G  G         p.200

          .         .         .         .         .         .       g.42542
 GACGGAGGCATATTGTGTGAAATAGTCAAACTAAAACCAAAGATGGTCACTATGGTAGAG       c.660
 D  G  G  I  L  C  E  I  V  K  L  K  P  K  M  V  T  M  V  E         p.220

  | 07       .         .         .         .         .         .    g.43364
  | ATTGACCAAATGGTGATTGATGGGTGTAAGAAATACATGCGAAAAACGTGTGGCGATGTC    c.720
  | I  D  Q  M  V  I  D  G  C  K  K  Y  M  R  K  T  C  G  D  V      p.240

          .         .         . | 08       .         .         .    g.48761
 TTAGACAATCTTAAAGGAGACTGCTATCAG | GTTCTAATAGAAGACTGTATCCCGGTACTG    c.780
 L  D  N  L  K  G  D  C  Y  Q   | V  L  I  E  D  C  I  P  V  L      p.260

          .         .         .         .         .         .       g.48821
 AAGAGGTACGCCAAAGAAGGGAGAGAATTTGATTATGTGATTAATGATTTGACAGCTGTT       c.840
 K  R  Y  A  K  E  G  R  E  F  D  Y  V  I  N  D  L  T  A  V         p.280

          .         .      | 09  .         .         .         .    g.49606
 CCAATCTCCACGTCTCCAGAAGAAG | ATTCCACATGGGAGTTTCTCAGACTGATTCTTGAC    c.900
 P  I  S  T  S  P  E  E  D |   S  T  W  E  F  L  R  L  I  L  D      p.300

          .         .         .         .      | 10  .         .    g.57039
 CTCTCAATGAAAGTGTTGAAACAGGATGGGAAATATTTTACACAG | GGGAACTGTGTCAAT    c.960
 L  S  M  K  V  L  K  Q  D  G  K  Y  F  T  Q   | G  N  C  V  N      p.320

          .         .         .         .         .         .       g.57099
 CTGACAGAAGCACTGTCGCTCTATGAAGAACAGCTGGGGCGCCTGTATTGTCCTGTGGAA       c.1020
 L  T  E  A  L  S  L  Y  E  E  Q  L  G  R  L  Y  C  P  V  E         p.340

          .         .         .         .  | 11      .         .    g.58758
 TTTTCAAAGGAGATCGTCTGTGTCCCTTCATACTTGGAATT | GTGGGTATTTTACACTGTT    c.1080
 F  S  K  E  I  V  C  V  P  S  Y  L  E  L  |  W  V  F  Y  T  V      p.360

          .         .                                               g.58779
 TGGAAGAAAGCTAAACCCTGA                                              c.1101
 W  K  K  A  K  P  X                                                p.366

          .         .         .         .         .         .       g.58839
 agatcagtagcccctaatcacatgtgctgcaaatagccttcctgacctccatatgctgta       c.*60

          .         .         .         .         .         .       g.58899
 catgacatcaaaatgagtcaggcaattgattgtgaattccttaaagttttccttttttta       c.*120

          .         .         .         .         .         .       g.58959
 ataattatttttaatttaaaaaagcaaatggaaaatgtatattttgatgagcttagggtg       c.*180

          .         .         .         .         .         .       g.59019
 ttttttttttgaaagtcagctgaaggatggttagacagcacagcgaagactgctaaatgc       c.*240

          .         .         .         .         .         .       g.59079
 actgaccccccccattagaatgtgatttttgttcctttttatttctctgtgggcttttgt       c.*300

          .         .         .         .         .         .       g.59139
 ttttgtttttgttttggtagatcttcaatttggatatttggaggagtgaacatcgttgtt       c.*360

          .         .         .         .         .         .       g.59199
 ttgctggagggaagatcttgatggtgtttctttccccaaaaattgacttagatattaaaa       c.*420

          .         .         .         .         .         .       g.59259
 tttggtgcttataagagagagttaaaaaaaaataggattgcttcaattaaaattacaaaa       c.*480

                                                                    g.59265
 gagaca                                                             c.*486

 (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 Spermine 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.