ribosomal protein S24 (RPS24) - coding DNA reference sequence

(used for variant description)

(last modified December 29, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_001142285.1 in the RPS24 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012633.1, covering RPS24 transcript NM_001142285.1.

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

 (upstream sequence)
                                         .         .                g.5022
                                       aggcatcggcgcggtcagcctc       c.-121

 .         .         .         .         .         .                g.5082
 gtggcgcgcccacgcccccacgccggctcttcccggggtccttccgtgcgcgttgatatg       c.-61

 .         .         .         .         .         .                g.5142
 attggccggcgaatcgtggttctcttttcctccttggctgtctgaagatagatcgccatc       c.-1

     | 02    .         .         .         .         .         .    g.6649
 ATG | AACGACACCGTAACTATCCGCACTAGAAAGTTCATGACCAACCGACTACTTCAGAGG    c.60
 M   | N  D  T  V  T  I  R  T  R  K  F  M  T  N  R  L  L  Q  R      p.20

           | 03        .         .         .         .         .    g.6802
 AAACAAATG | GTCATTGATGTCCTTCACCCCGGGAAGGCGACAGTGCCTAAGACAGAAATT    c.120
 K  Q  M   | V  I  D  V  L  H  P  G  K  A  T  V  P  K  T  E  I      p.40

          .         .         .         .         .         .       g.6862
 CGGGAAAAACTAGCCAAAATGTACAAGACCACACCGGATGTCATCTTTGTATTTGGATTC       c.180
 R  E  K  L  A  K  M  Y  K  T  T  P  D  V  I  F  V  F  G  F         p.60

          .         .         .         .         .         .       g.6922
 AGAACTCATTTTGGTGGTGGCAAGACAACTGGCTTTGGCATGATTTATGATTCCCTGGAT       c.240
 R  T  H  F  G  G  G  K  T  T  G  F  G  M  I  Y  D  S  L  D         p.80

          .         .         .          | 04        .         .    g.8455
 TATGCAAAGAAAAATGAACCCAAACATAGACTTGCAAGA | CATGGCCTGTATGAGAAGAAA    c.300
 Y  A  K  K  N  E  P  K  H  R  L  A  R   | H  G  L  Y  E  K  K      p.100

          .         .         .         .         .         .       g.8515
 AAGACCTCAAGAAAGCAACGAAAGGAACGCAAGAACAGAATGAAGAAAGTCAGGGGGACT       c.360
 K  T  S  R  K  Q  R  K  E  R  K  N  R  M  K  K  V  R  G  T         p.120

          .         .         . | 05       .         .         .    g.25801
 GCAAAGGCCAATGTTGGTGCTGGCAAAAAG | ATGAGGGAATTGGGGCTTGGAGTGCAAGCA    c.420
 A  K  A  N  V  G  A  G  K  K   | M  R  E  L  G  L  G  V  Q  A      p.140

          .         .         .         .         .         .       g.25861
 TTGGGAAGAATTTCCCAGGAAGAGAGATGCACAGATGTGAAGAACTCGAAGGCAAGAGAA       c.480
 L  G  R  I  S  Q  E  E  R  C  T  D  V  K  N  S  K  A  R  E         p.160

          .         .         .         .         .         .       g.25921
 AGCCGGGGGGTTGTGTGGCAGGTAGAAGTGCCAGGACCGTGGAGCGTGTGGACATGTGGC       c.540
 S  R  G  V  V  W  Q  V  E  V  P  G  P  W  S  V  W  T  C  G         p.180

          .         .         .         .         .         .       g.25981
 AGATTGCGGAGGGGCTGTGGCAAGTATTTACAGGTGGCCGTTACCTGGAGGAAGACTGAA       c.600
 R  L  R  R  G  C  G  K  Y  L  Q  V  A  V  T  W  R  K  T  E         p.200

          .         .         .         .         .         .       g.26041
 AACAGAGAACAGTGCTGCCAGGCGTGCCTTTTGGAGAGGGCACTGGTCAGAAACGGAGCC       c.660
 N  R  E  Q  C  C  Q  A  C  L  L  E  R  A  L  V  R  N  G  A         p.220

          .         .         .         .         .         .       g.26101
 TTCATGTCGCCTGCCTCACCTGCTCCTGCTGGTTCTCCCCACCCTGTGGACGGTGACTTG       c.720
 F  M  S  P  A  S  P  A  P  A  G  S  P  H  P  V  D  G  D  L         p.240

          .         .         .         .         .         .       g.26161
 GTCCTCCACTTGCCAGAAGCCTTGTCAGCAACCTTGACTCTGTCACCCCACATCCAGGCC       c.780
 V  L  H  L  P  E  A  L  S  A  T  L  T  L  S  P  H  I  Q  A         p.260

          .         .         .         .         .         .       g.26221
 ATCAACAAGTCTTTTGGCCCTTTCTTTGAAATCCACCAGGAATCCAGCTGCTTCTCCCCA       c.840
 I  N  K  S  F  G  P  F  F  E  I  H  Q  E  S  S  C  F  S  P         p.280

          .         .         .                                     g.26251
 CCTTCCTGCCTCTCTGGTCTGGGCCACTAA                                     c.870
 P  S  C  L  S  G  L  G  H  X                                       p.289

          .         .         .         .         .         .       g.26311
 tgtcactgccatggccgccttgctgcatttctgaggatgcttcatctctccaccttcttc       c.*60

          .         .         .         .         .         .       g.26371
 tccactcagcagccagcagggcactgtggaaatcggagtcacatgagctggcacctctgt       c.*120

          .         .         .         .         .         .       g.26431
 tcagaaccctccagggctccacatctctctcacccaaatgccaaagacctccccacgccc       c.*180

          .         .         .         .         .         .       g.26491
 ccacaatcccccacgacctggccactggcctcccaccaccttccagctccagcggctcct       c.*240

          .         .         .         .         .         .       g.26551
 accacatttaaggctttccttcctagttttaatttttcctcgtcagcagttgattttatt       c.*300

          .         .         .         .         .         .       g.26611
 attttcttgtttattggtattttcccactagaaatgaagctgcgtgaagttagagatttt       c.*360

          .         .         .         .         .         .       g.26671
 tttttttggtctgtgttcctaattagctcattgctatacccctggcgcccagaacaatgc       c.*420

          .         .         .         .         .         .       g.26731
 cttggacacagtacgcagtagactaaataaatacttgttgaatgactgactgacggaatg       c.*480

          .         .         .         .         .         .       g.26791
 acggctgtgtggggagtggattgggtcgtgaggcagaggctgcggtggaaactcaggcag       c.*540

          .         .         .         .         .         .       g.26851
 gaggtgatggtggttcttggggctgcggaatgccaagtttagaagctcttcctctgctgt       c.*600

          .         .         .         .         .         .       g.26911
 ggcacatgaaccggtcactcgagaaggcttttagatttactttgcctaatcccctcttag       c.*660

          .         .         .         .         .         .       g.26971
 tgcatgtggggaaactgaggtacacaaaaggaattccccaccaagttaggggcagaacct       c.*720

          .         .         .         .         .         .       g.27031
 agcccccttgtctcccagatggatatcttcttttttttttgagacggagtcttgctctgt       c.*780

          .         .         .         .         .         .       g.27091
 tgcccaggctggagtgcagtggtaccatcttggctcactgcaacctctgcttcccaggtt       c.*840

          .         .         .         .         .         .       g.27151
 caagcgattctcctgcctcagcctcctgagtgtctgcgattacaggtgcacacaaccacg       c.*900

          .         .         .         .         .         .       g.27211
 cctggctaatttttgtatttttagtagagacggggtttcaccgtgttggtcagggtgacc       c.*960

          .         .         .         .         .         .       g.27271
 tcaaactcctgacctcatgatccacccagctcagcctcccaacgtgctgggattacaggc       c.*1020

          .         .         .         .         .         .       g.27331
 atgagccaccgtgcctggctggacatcttgttattaaagcttcttctctctttgtagggg       c.*1080

          .         .         .         .         .         .       g.27391
 agggggagatgcctctggtggagaagaccagtgtggcagtgactgtgtctgttagtgaac       c.*1140

          .         .         .         .         .         .       g.27451
 ctggtggctggttgagggtctgtcgtggtgactgaggacacatacaaagtgcttttctca       c.*1200

          .         .         .         .         .         .       g.27511
 gtggtcaccttggtgttggtgaataagggtcagaagatggctcctgtcctagggcactgc       c.*1260

          .         .         .         .         .         .       g.27571
 cagtcggtttggaagctgaaatgcctgcttagcagtttgaggaaacacagaccttggagg       c.*1320

          .         .         .         .         .         .       g.27631
 atcttctggttgcctcttcaagaattcattctattccccttctgctccccaaatttgctt       c.*1380

          .         .         .         .         .         .       g.27691
 ttcttggggtgggtcttggttggcctaagccaagaaagtatggcatctactccttccata       c.*1440

          .         .         .         .         .         .       g.27751
 gcaatagctcaggaataggcagtgacccagacctgaaccaatcagtgcatggaattaccc       c.*1500

          .         .         .         .         .         .       g.27811
 ctggccaaagtggttgattgaggctgggtgcaagcagagttgtgagaaggctcccatttg       c.*1560

          .         .         .         .         .         .       g.27871
 gtggttggagagatcgcacttgctccagaggtcataatgtgcagatctgaggcttggaac       c.*1620

          .         .         .         .         .         .       g.27931
 tgctgcagacattttgctaccacaagtgaagccaccctgacgacacagttgacaatttgg       c.*1680

          .         .         .         .         .         .       g.27991
 agcagggcagagctgagagaacagcagggaaacagccagagtcttgctcaagcctccctg       c.*1740

          .         .         .         .         .         .       g.28051
 aagtatctatacccctggactctagttatgggggctaataaatgttatatactgtttaag       c.*1800

                                                                    g.28054
 gta                                                                c.*1803

 (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 Ribosomal protein S24 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.