ribosomal protein L5 (RPL5) - coding DNA reference sequence

(used for mutation description)

(last modified May 1, 2014)

This file was created to facilitate the description of sequence variants in the RPL5 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering RPL5 transcript NM_000969.3.

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

 (upstream sequence)
                                                   .                g.1018
                                           ggcccttttcccaccccc       c.-61

 .         .         .         .         .         .                g.1078
 tagcgccgctgggcctgcaggtctctgtcgagcagcggacgccggtctctgttccgcagg       c.-1

     | 02    .         .         .         .         .         .    g.2409
 ATG | GGGTTTGTTAAAGTTGTTAAGAATAAGGCCTACTTTAAGAGATACCAAGTGAAATTT    c.60
 M   | G  F  V  K  V  V  K  N  K  A  Y  F  K  R  Y  Q  V  K  F      p.20

          .    | 03    .         .         .         .         .    g.2555
 AGAAGACGACGAG | AGGGTAAAACTGATTATTATGCTCGGAAACGCTTGGTGATACAAGAT    c.120
 R  R  R  R  E |   G  K  T  D  Y  Y  A  R  K  R  L  V  I  Q  D      p.40

          .         .         .         .         .         .       g.2615
 AAAAATAAATACAACACACCCAAATACAGGATGATAGTTCGTGTGACAAACAGAGATATC       c.180
 K  N  K  Y  N  T  P  K  Y  R  M  I  V  R  V  T  N  R  D  I         p.60

           | 04        .         .         .         .         .    g.3793
 ATTTGTCAG | ATTGCTTATGCCCGTATAGAGGGGGATATGATAGTCTGCGCAGCGTATGCA    c.240
 I  C  Q   | I  A  Y  A  R  I  E  G  D  M  I  V  C  A  A  Y  A      p.80

          .         .         .         .         .         .       g.3853
 CACGAACTGCCAAAATATGGTGTGAAGGTTGGCCTGACAAATTATGCTGCAGCATATTGT       c.300
 H  E  L  P  K  Y  G  V  K  V  G  L  T  N  Y  A  A  A  Y  C         p.100

          .         .     | 05   .         .         .         .    g.5189
 ACTGGCCTGCTGCTGGCCCGCAGG | CTTCTCAATAGGTTTGGCATGGACAAGATCTATGAA    c.360
 T  G  L  L  L  A  R  R   | L  L  N  R  F  G  M  D  K  I  Y  E      p.120

          .         .         .         .         .         .       g.5249
 GGCCAAGTGGAGGTGACTGGTGATGAATACAATGTGGAAAGCATTGATGGTCAGCCAGGT       c.420
 G  Q  V  E  V  T  G  D  E  Y  N  V  E  S  I  D  G  Q  P  G         p.140

          .         .         .         .         .         .       g.5309
 GCCTTCACCTGCTATTTGGATGCAGGCCTTGCCAGAACTACCACTGGCAATAAAGTTTTT       c.480
 A  F  T  C  Y  L  D  A  G  L  A  R  T  T  T  G  N  K  V  F         p.160

          .         .         .         .        | 06.         .    g.6432
 GGTGCCCTGAAGGGAGCTGTGGATGGAGGCTTGTCTATCCCTCACAG | TACCAAACGATTC    c.540
 G  A  L  K  G  A  V  D  G  G  L  S  I  P  H  S  |  T  K  R  F      p.180

          .         .         .         .         .         .       g.6492
 CCTGGTTATGATTCTGAAAGCAAGGAATTTAATGCAGAAGTACATCGGAAGCACATCATG       c.600
 P  G  Y  D  S  E  S  K  E  F  N  A  E  V  H  R  K  H  I  M         p.200

          .         .         .         .         .         .       g.6552
 GGCCAGAATGTTGCAGATTACATGCGCTACTTAATGGAAGAAGATGAAGATGCTTACAAG       c.660
 G  Q  N  V  A  D  Y  M  R  Y  L  M  E  E  D  E  D  A  Y  K         p.220

          .         .         .         .      | 07  .         .    g.9529
 AAACAGTTCTCTCAATACATAAAGAACAGCGTAACTCCAGACATG | ATGGAGGAGATGTAT    c.720
 K  Q  F  S  Q  Y  I  K  N  S  V  T  P  D  M   | M  E  E  M  Y      p.240

          .         .         .         .         .         .       g.9589
 AAGAAAGCTCATGCTGCTATACGAGAGAATCCAGTCTATGAAAAGAAGCCCAAGAAAGAA       c.780
 K  K  A  H  A  A  I  R  E  N  P  V  Y  E  K  K  P  K  K  E         p.260

          .     | 08   .         .         .         .         .    g.10775
 GTTAAAAAGAAGAG | GTGGAACCGTCCCAAAATGTCCCTTGCTCAGAAGAAGGATCGGGTA    c.840
 V  K  K  K  R  |  W  N  R  P  K  M  S  L  A  Q  K  K  D  R  V      p.280

          .         .         .         .         .                 g.10829
 GCTCAAAAGAAGGCAAGCTTCCTCAGAGCTCAGGAGCGGGCTGCTGAGAGCTAA             c.894
 A  Q  K  K  A  S  F  L  R  A  Q  E  R  A  A  E  S  X               p.297

          .         .         .         .         .                 g.10888
 acccagcaattttctatgattttttcagatatagataataaacttatgaacagcaacta        c.*59

 (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 L5 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.