proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 (PSMD12) - coding DNA reference sequence

(used for variant description)

(last modified October 14, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_002816.3 in the PSMD12 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000017.10, covering PSMD12 transcript NM_002816.3.

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

 (upstream sequence)
                                         .         .                g.5026
                                   ctgagcgggtgcgcgggcaacttccg       c.-61

 .         .         .         .         .         .                g.5086
 gtgtgggtgacgagtggtggccgaagcagggggacagcaagggacgctcaggcggggacc       c.-1

          .         .         .         .         .         .       g.5146
 ATGGCGGACGGCGGCTCGGAGCGGGCTGACGGGCGCATCGTCAAGATGGAGGTGGACTAC       c.60
 M  A  D  G  G  S  E  R  A  D  G  R  I  V  K  M  E  V  D  Y         p.20

          .         .         .         .         | 02         .    g.14039
 AGCGCCACGGTGGATCAGCGCCTACCCGAGTGTGCGAAGCTAGCCAAG | GAAGGAAGACTT    c.120
 S  A  T  V  D  Q  R  L  P  E  C  A  K  L  A  K   | E  G  R  L      p.40

          .         .         .         .         | 03         .    g.14186
 CAAGAAGTCATTGAAACCCTTCTCTCTCTGGAAAAGCAGACTCGTACT | GCTTCCGATATG    c.180
 Q  E  V  I  E  T  L  L  S  L  E  K  Q  T  R  T   | A  S  D  M      p.60

          .         .         .         .         .         .       g.14246
 GTATCGACATCCCGTATCTTAGTTGCAGTAGTGAAGATGTGCTATGAGGCTAAAGAATGG       c.240
 V  S  T  S  R  I  L  V  A  V  V  K  M  C  Y  E  A  K  E  W         p.80

          .         .         .         .         .        | 04.    g.21272
 GATTTACTTAATGAAAATATTATGCTTTTGTCCAAAAGGCGGAGTCAGTTAAAACAA | GCT    c.300
 D  L  L  N  E  N  I  M  L  L  S  K  R  R  S  Q  L  K  Q   | A      p.100

          .         .         .         .         .         .       g.21332
 GTTGCCAAAATGGTTCAACAGTGCTGTACTTATGTTGAGGAAATCACAGACCTTCCTATC       c.360
 V  A  K  M  V  Q  Q  C  C  T  Y  V  E  E  I  T  D  L  P  I         p.120

          .         .         .         .      | 05  .         .    g.22966
 AAACTTCGATTAATTGATACTCTACGAATGGTTACCGAAGGCAAG | ATTTATGTTGAAATT    c.420
 K  L  R  L  I  D  T  L  R  M  V  T  E  G  K   | I  Y  V  E  I      p.140

          .         .         .         .         .         .       g.23026
 GAGCGTGCGCGACTGACTAAAACATTAGCAACTATAAAAGAACAAAATGGTGATGTGAAA       c.480
 E  R  A  R  L  T  K  T  L  A  T  I  K  E  Q  N  G  D  V  K         p.160

          .         .         . | 06       .         .         .    g.24150
 GAGGCAGCCTCCATTTTACAGGAGTTACAG | GTGGAAACCTACGGGTCAATGGAAAAGAAA    c.540
 E  A  A  S  I  L  Q  E  L  Q   | V  E  T  Y  G  S  M  E  K  K      p.180

          .         .         .         .         .         .       g.24210
 GAGCGAGTGGAATTTATTTTGGAGCAAATGAGGCTCTGCCTAGCTGTGAAGGATTACATT       c.600
 E  R  V  E  F  I  L  E  Q  M  R  L  C  L  A  V  K  D  Y  I         p.200

          .         .         .         .         .         .       g.24270
 CGAACACAAATCATCAGCAAGAAAATTAACACCAAATTTTTCCAGGAAGAAAATACAGAG       c.660
 R  T  Q  I  I  S  K  K  I  N  T  K  F  F  Q  E  E  N  T  E         p.220

  | 07       .         .         .         .         .         .    g.24415
  | AAATTAAAGTTGAAGTACTATAATTTAATGATTCAGCTGGATCAACATGAGGGATCCTAT    c.720
  | K  L  K  L  K  Y  Y  N  L  M  I  Q  L  D  Q  H  E  G  S  Y      p.240

          .         .         .         .         .         .       g.24475
 TTGTCTATTTGTAAGCACTACAGAGCAATATATGATACTCCCTGTATACAGGCAGAAAGT       c.780
 L  S  I  C  K  H  Y  R  A  I  Y  D  T  P  C  I  Q  A  E  S         p.260

          .      | 08  .         .         .         .         .    g.25793
 GAAAAATGGCAGCAG | GCTCTGAAGAGTGTTGTACTCTATGTTATCCTGGCTCCTTTTGAC    c.840
 E  K  W  Q  Q   | A  L  K  S  V  V  L  Y  V  I  L  A  P  F  D      p.280

          .         .         .         .         .         .       g.25853
 AATGAACAGTCAGATTTGGTTCACCGAATAAGTGGTGACAAGAAGTTAGAAGAAATTCCC       c.900
 N  E  Q  S  D  L  V  H  R  I  S  G  D  K  K  L  E  E  I  P         p.300

          | 09         .         .         .         .         .    g.26877
 AAATACAA | GGATCTTTTAAAGCTTTTTACCACAATGGAGTTGATGCGTTGGTCCACACTT    c.960
 K  Y  K  |  D  L  L  K  L  F  T  T  M  E  L  M  R  W  S  T  L      p.320

          .         .         .         .         .         .       g.26937
 GTTGAGGACTATGGAATGGAATTAAGAAAAGGTTCCCTTGAGAGTCCTGCAACGGATGTT       c.1020
 V  E  D  Y  G  M  E  L  R  K  G  S  L  E  S  P  A  T  D  V         p.340

          .         .         .         .         .         .       g.26997
 TTTGGTTCTACAGAGGAAGGTGAAAAAAGGTGGAAAGACTTGAAGAACAGAGTTGTTGAA       c.1080
 F  G  S  T  E  E  G  E  K  R  W  K  D  L  K  N  R  V  V  E         p.360

     | 10    .         .         .         .         .         .    g.29399
 CAT | AATATTAGAATAATGGCCAAGTATTATACTCGGATAACAATGAAAAGGATGGCACAG    c.1140
 H   | N  I  R  I  M  A  K  Y  Y  T  R  I  T  M  K  R  M  A  Q      p.380

          .         .  | 11      .         .         .         .    g.30592
 CTTCTGGATCTATCTGTTGAT | GAGTCCGAAGCCTTTCTCTCAAATCTAGTAGTTAACAAG    c.1200
 L  L  D  L  S  V  D   | E  S  E  A  F  L  S  N  L  V  V  N  K      p.400

          .         .         .         .         .         .       g.30652
 ACCATCTTTGCTAAAGTAGACAGATTAGCAGGAATTATCAACTTCCAGAGACCCAAGGAT       c.1260
 T  I  F  A  K  V  D  R  L  A  G  I  I  N  F  Q  R  P  K  D         p.420

          .         .         .         .         .         .       g.30712
 CCAAATAATTTATTAAATGACTGGTCTCAGAAACTGAACTCATTAATGTCTCTGGTTAAC       c.1320
 P  N  N  L  L  N  D  W  S  Q  K  L  N  S  L  M  S  L  V  N         p.440

          .         .         .         .         .                 g.30763
 AAAACTACGCATCTCATAGCCAAAGAGGAGATGATACATAATCTACAATAA                c.1371
 K  T  T  H  L  I  A  K  E  E  M  I  H  N  L  Q  X                  p.456

          .         .         .         .         .         .       g.30823
 gggtcttagtgctttagaaaaaagttaaaattggaagtcattaaaaaaagactgttataa       c.*60

          .         .         .         .         .         .       g.30883
 tggtgtatatgttggggttttttttctaagcttctttgtcttaaattttaaaatagtgaa       c.*120

          .         .         .         .         .         .       g.30943
 tatgtttgagactccctttgacctttcagttccccaagttcattgttaactttgcatttg       c.*180

          .         .         .         .         .         .       g.31003
 caattggtgcaaaaatacagatttctgtcgtctgaatacacaaaaagttgtgtcataact       c.*240

          .         .         .         .         .         .       g.31063
 tacccagatatgtttttctatcatttgaaacctttttagctactgtttgttttcattcaa       c.*300

          .         .         .         .                           g.31103
 ctaacaaacatattccaataataaaagcagtatatacata                           c.*340

 (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 Proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 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.