ribosomal protein S4, X-linked (RPS4X) - coding DNA reference sequence

(used for variant description)

(last modified February 19, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_001007.4 in the RPS4X gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012524.1, covering RPS4X transcript NM_001007.4.

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

 (upstream sequence)
                               .         .         .                g.5036
                         gggcggagcagctgaaaatccggcgcgcgcagtctc       c.-61

 .         .         .         .         .         .                g.5096
 cagccccaatttctacgcgcaccggaagacggaggtcctctttccttgcctaacgcagcc       c.-1

     | 02    .         .         .         .         .         .    g.6114
 ATG | GCTCGTGGTCCCAAGAAGCATCTGAAGCGGGTGGCAGCTCCAAAGCATTGGATGCTG    c.60
 M   | A  R  G  P  K  K  H  L  K  R  V  A  A  P  K  H  W  M  L      p.20

          .         .  | 03      .         .         .         .    g.6606
 GATAAATTGACCGGTGTGTTT | GCTCCTCGTCCATCCACCGGTCCCCACAAGTTGAGAGAG    c.120
 D  K  L  T  G  V  F   | A  P  R  P  S  T  G  P  H  K  L  R  E      p.40

          .         .         .         .         .         .       g.6666
 TGTCTCCCCCTCATCATTTTCCTGAGGAACAGACTTAAGTATGCCCTGACAGGAGATGAA       c.180
 C  L  P  L  I  I  F  L  R  N  R  L  K  Y  A  L  T  G  D  E         p.60

          .         .         .         .         .         .       g.6726
 GTAAAGAAGATTTGCATGCAGCGGTTCATTAAAATCGATGGCAAGGTCCGAACTGATATA       c.240
 V  K  K  I  C  M  Q  R  F  I  K  I  D  G  K  V  R  T  D  I         p.80

          .         .   | 04     .         .         .         .    g.7179
 ACCTACCCTGCTGGATTCATGG | ATGTCATCAGCATTGACAAGACGGGAGAGAATTTCCGT    c.300
 T  Y  P  A  G  F  M  D |   V  I  S  I  D  K  T  G  E  N  F  R      p.100

          .         .         .         .         .         .       g.7239
 CTGATCTATGACACCAAGGGTCGCTTTGCTGTACATCGTATTACACCTGAGGAGGCCAAG       c.360
 L  I  Y  D  T  K  G  R  F  A  V  H  R  I  T  P  E  E  A  K         p.120

  | 05       .         .         .         .         .         .    g.8379
  | TACAAGTTGTGCAAAGTGAGAAAGATCTTTGTGGGCACAAAAGGAATCCCTCATCTGGTG    c.420
  | Y  K  L  C  K  V  R  K  I  F  V  G  T  K  G  I  P  H  L  V      p.140

          .         .         .         .         .         .       g.8439
 ACTCATGATGCCCGCACCATCCGCTACCCCGATCCCCTCATCAAGGTGAATGATACCATT       c.480
 T  H  D  A  R  T  I  R  Y  P  D  P  L  I  K  V  N  D  T  I         p.160

          .         .         .         .         .   | 06     .    g.8910
 CAGATTGATTTGGAGACTGGCAAGATTACTGATTTCATCAAGTTCGACACTG | GTAACCTG    c.540
 Q  I  D  L  E  T  G  K  I  T  D  F  I  K  F  D  T  G |   N  L      p.180

          .         .         .         .         .         .       g.8970
 TGTATGGTGACTGGAGGTGCTAACCTAGGAAGAATTGGTGTGATCACCAACAGAGAGAGG       c.600
 C  M  V  T  G  G  A  N  L  G  R  I  G  V  I  T  N  R  E  R         p.200

          .         .         .         .         .         .       g.9030
 CACCCTGGATCTTTTGACGTGGTTCACGTGAAAGATGCCAATGGCAACAGCTTTGCCACT       c.660
 H  P  G  S  F  D  V  V  H  V  K  D  A  N  G  N  S  F  A  T         p.220

          .         .         . | 07       .         .         .    g.9549
 CGACTTTCCAACATTTTTGTTATTGGCAAG | GGCAACAAACCATGGATTTCTCTTCCCCGA    c.720
 R  L  S  N  I  F  V  I  G  K   | G  N  K  P  W  I  S  L  P  R      p.240

          .         .         .         .         .         .       g.9609
 GGAAAGGGTATCCGCCTCACCATTGCTGAAGAGAGAGACAAAAGACTGGCGGCCAAACAG       c.780
 G  K  G  I  R  L  T  I  A  E  E  R  D  K  R  L  A  A  K  Q         p.260

          .                                                         g.9621
 AGCAGTGGGTGA                                                       c.792
 S  S  G  X                                                         p.263

          .         .         .         .         .         .       g.9681
 aatgggtccctgggtgacatgtcagatctttgtacgtaattaaaaatattgtggcaggat       c.*60

                                                                    g.9689
 taatagca                                                           c.*68

 (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 S4, X-linked 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.