spastic paraplegia 21 (autosomal recessive, Mast syndrome) (SPG21) - coding DNA reference sequence

(used for variant description)

(last modified March 5, 2026)

This file was created to facilitate the description of sequence variants on transcript NM_016630.3 in the SPG21 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000015.9, covering SPG21 transcript NM_016630.3.

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

 (upstream sequence)
                               .         .         .                g.5033
                            ggagtctcgcgccagctgagcggcggtcgggcg       c.-241

 .         .         .         .         .         .                g.5093
 gggggagcgcggcggcccaagctcgctcggccacgcgccccgccccctcagaggccggcc       c.-181

 .         .         .         .         .         .                g.5153
 tcccgcacgcaccgcgcagcctgctgtgcccgtgggtcccgagtgctccgccgcccgccc       c.-121

 .         .         .         .         .         .                g.5213
 cgacccgggcccagccgcctccacggcccgcgctcgtactggagcgaagagcggcctcct       c.-61

 .         .         .         .      | 02  .         .             g.11344
 gaaggaggggaagggacgtgggggcggccacggcag | gattaacctccatttcagctaatc    c.-1

          .         .         .         .         .         .       g.11404
 ATGGGAGAGATTAAAGTCTCTCCTGATTATAACTGGTTTAGAGGTACAGTTCCCCTTAAA       c.60
 M  G  E  I  K  V  S  P  D  Y  N  W  F  R  G  T  V  P  L  K         p.20

     | 03    .         .         .         .         .         .    g.13945
 AAG | ATTATTGTGGATGATGATGACAGTAAGATATGGTCGCTCTATGACGCGGGCCCCCGA    c.120
 K   | I  I  V  D  D  D  D  S  K  I  W  S  L  Y  D  A  G  P  R      p.40

          .         .         .         .         .         .       g.14005
 AGTATCAGGTGTCCTCTCATATTCCTGCCCCCTGTCAGTGGAACTGCAGATGTCTTTTTC       c.180
 S  I  R  C  P  L  I  F  L  P  P  V  S  G  T  A  D  V  F  F         p.60

          .         .         .         .      | 04  .         .    g.18373
 CGGCAGATTTTGGCTCTGACTGGATGGGGTTACCGGGTTATCGCT | TTGCAGTATCCAGTT    c.240
 R  Q  I  L  A  L  T  G  W  G  Y  R  V  I  A   | L  Q  Y  P  V      p.80

          .         .         .         .         .         .       g.18433
 TATTGGGACCATCTCGAGTTCTGTGATGGATTCAGAAAACTTTTAGACCATTTACAATTG       c.300
 Y  W  D  H  L  E  F  C  D  G  F  R  K  L  L  D  H  L  Q  L         p.100

        | 05 .         .         .         .         .         .    g.20220
 GATAAA | GTTCATCTTTTTGGCGCTTCTTTGGGAGGCTTTTTGGCCCAGAAATTTGCTGAA    c.360
 D  K   | V  H  L  F  G  A  S  L  G  G  F  L  A  Q  K  F  A  E      p.120

          .         .         .         .         .         .       g.20280
 TACACTCACAAATCTCCTAGAGTCCATTCCCTAATCCTCTGCAATTCCTTCAGTGACACC       c.420
 Y  T  H  K  S  P  R  V  H  S  L  I  L  C  N  S  F  S  D  T         p.140

          .         .         .   | 06     .         .         .    g.24719
 TCTATCTTCAACCAAACTTGGACTGCAAACAG | CTTTTGGCTGATGCCTGCATTTATGCTC    c.480
 S  I  F  N  Q  T  W  T  A  N  S  |  F  W  L  M  P  A  F  M  L      p.160

          .         .         .         .         .         .       g.24779
 AAAAAAATAGTTCTTGGAAATTTTTCATCTGGCCCGGTGGACCCTATGATGGCTGATGCC       c.540
 K  K  I  V  L  G  N  F  S  S  G  P  V  D  P  M  M  A  D  A         p.180

          .         .  | 07      .         .         .         .    g.25591
 ATTGATTTCATGGTAGACAGG | CTAGAAAGTTTGGGTCAGAGTGAACTGGCTTCAAGACTT    c.600
 I  D  F  M  V  D  R   | L  E  S  L  G  Q  S  E  L  A  S  R  L      p.200

          .         .         .         .         .         .       g.25651
 ACCTTGAATTGTCAAAATTCTTATGTGGAACCTCATAAAATTCGGGACATACCTGTAACT       c.660
 T  L  N  C  Q  N  S  Y  V  E  P  H  K  I  R  D  I  P  V  T         p.220

           | 08        .         .         .         .         .    g.29501
 ATTATGGAT | GTGTTTGATCAGAGTGCGCTTTCAACTGAAGCTAAAGAAGAAATGTACAAG    c.720
 I  M  D   | V  F  D  Q  S  A  L  S  T  E  A  K  E  E  M  Y  K      p.240

          .         .         .         .         .         .       g.29561
 CTGTATCCTAATGCCCGAAGAGCTCATCTGAAAACAGGAGGCAATTTCCCATACCTGTGC       c.780
 L  Y  P  N  A  R  R  A  H  L  K  T  G  G  N  F  P  Y  L  C         p.260

          .         .         . | 09       .         .         .    g.31204
 AGAAGTGCAGAGGTCAATCTTTATGTACAG | ATACATTTGCTGCAATTCCATGGAACCAAA    c.840
 R  S  A  E  V  N  L  Y  V  Q   | I  H  L  L  Q  F  H  G  T  K      p.280

          .         .         .         .         .         .       g.31264
 TACGCGGCCATTGACCCATCAATGGTCAGTGCCGAGGAGCTTGAGGTGCAGAAAGGCAGC       c.900
 Y  A  A  I  D  P  S  M  V  S  A  E  E  L  E  V  Q  K  G  S         p.300

          .         .                                               g.31291
 CTTGGCATCAGCCAGGAGGAGCAGTAG                                        c.927
 L  G  I  S  Q  E  E  Q  X                                          p.308

          .         .         .         .         .         .       g.31351
 tgtgtctctcgctgtcaatgatgagttgacccggtgtgttcttgtatagtcagtggcatc       c.*60

          .         .         .         .         .         .       g.31411
 agcacccgtcagccggccttttccttcaggttcgtcaggctcaccggttctcactgtgtc       c.*120

          .         .         .         .         .         .       g.31471
 tgggaagtaggactgatggtcatcttcatgacaggcggcatctccactaagcctgtgtaa       c.*180

          .         .         .         .         .         .       g.31531
 ctgttccctctttggttttcttagcttttgaatttgaagaagtacttttgaagactccca       c.*240

          .         .         .         .         .         .       g.31591
 ttttaagaaccgtgcagattttgctaccaaaagtcttcaccactgtgttcttaagtgaat       c.*300

          .         .         .         .         .         .       g.31651
 gttaatttctgaggtttgggactttgtggtggtttttttcttcttttcttttccattctt       c.*360

          .         .         .         .         .         .       g.31711
 ctttctttctttttatgttgtttgctgtaaatgctgcacatccagattgcatatcaggac       c.*420

          .         .         .         .         .         .       g.31771
 attggttattttatgctttcttggatataaccatgatcagagtgccatggccactacccc       c.*480

          .         .         .         .         .         .       g.31831
 actgtttgctctcctgcaaatcaactgcttttaatttacacttaaacaaattgttttgag       c.*540

          .         .         .         .         .                 g.31889
 tgttagctactgcctttctagatattagtcatttggaataaaaattcaatttcactga         c.*598

 (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 Spastic paraplegia 21 (autosomal recessive, Mast syndrome) 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.