retinitis pigmentosa 9 (autosomal dominant) (RP9) - coding DNA reference sequence

(used for variant description)

(last modified November 26, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_203288.1 in the RP9 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012968.1, covering RP9 transcript NM_203288.1.

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

 (upstream sequence)
                                                   .                g.5018
                                           ggcgctgcgggggctgac       c.-1

          .         .         .         .         .         .       g.5078
 ATGTCGTCCCGGCCTGGGCGCGAGGACGTGGGGGCTGCGGGCGCGCGGCGGCCGCGTGAG       c.60
 M  S  S  R  P  G  R  E  D  V  G  A  A  G  A  R  R  P  R  E         p.20

          .         .         .         .         .         .       g.5138
 CCGCCGGAGCAGGAGCTGCAGCGACGTCGGGAGCAGAAGCGGCGGCGACACGACGCGCAG       c.120
 P  P  E  Q  E  L  Q  R  R  R  E  Q  K  R  R  R  H  D  A  Q         p.40

          .         .         .   | 02     .         .         .    g.13857
 CAGCTGCAGCAGCTCAAGCACCTGGAGTCCTT | TTACGAAAAACCTCCTCCTGGGCTTATC    c.180
 Q  L  Q  Q  L  K  H  L  E  S  F  |  Y  E  K  P  P  P  G  L  I      p.60

     | 03    .         .         .         .         .         .    g.15011
 AAG | GAAGATGAGACTAAGCCAGAAGATTGCATACCAGATGTACCAGGCAATGAACACGCC    c.240
 K   | E  D  E  T  K  P  E  D  C  I  P  D  V  P  G  N  E  H  A      p.80

          .         .         .         .         .         .       g.15071
 AGGGAATTTCTGGCTCATGCACCAACTAAAGGACTTTGGATGCCACTGGGGAAAGAAGTC       c.300
 R  E  F  L  A  H  A  P  T  K  G  L  W  M  P  L  G  K  E  V         p.100

          .    | 04    .         .         .         .         .    g.17075
 AAAGTTATGCAGT | GTTGGCGTTGCAAACGCTATGGTCACCGAACGGGTGACAAAGAATGC    c.360
 K  V  M  Q  C |   W  R  C  K  R  Y  G  H  R  T  G  D  K  E  C      p.120

          .         .         .         .      | 05  .         .    g.17851
 CCTTTCTTTATCAAAGGCAACCAAAAGTTAGAGCAGTTCAGAGTG | GCACATGAAGATCCC    c.420
 P  F  F  I  K  G  N  Q  K  L  E  Q  F  R  V   | A  H  E  D  P      p.140

          .         .         .         .        | 06.         .    g.18971
 ATGTATGACATCATACGAGACAATAAACGACATGAAAAGGACGTAAG | GATACAGCAGTTA    c.480
 M  Y  D  I  I  R  D  N  K  R  H  E  K  D  V  R  |  I  Q  Q  L      p.160

          .         .         .         .         .         .       g.19031
 AAACAGTTACTGGAGGATTCTACCTCAGATGAAGATAGGAGCAGCTCCAGTTCCTCTGAA       c.540
 K  Q  L  L  E  D  S  T  S  D  E  D  R  S  S  S  S  S  S  E         p.180

          .         .         .         .         .         .       g.19091
 GGTAAAGAGAAACACAAGAAAAAGAAGAAGAAAGAAAAGCATAAGAAAAGGAAGAAAGAA       c.600
 G  K  E  K  H  K  K  K  K  K  K  E  K  H  K  K  R  K  K  E         p.200

          .         .         .         .         .         .       g.19151
 AAGAAAAAGAAGAAAAAACGGAAGCACAAATCTTCCAAGTCAAATGAGGGTTCTGACTCA       c.660
 K  K  K  K  K  K  R  K  H  K  S  S  K  S  N  E  G  S  D  S         p.220

                                                                    g.19157
 GAGTGA                                                             c.666
 E  X                                                               p.221

          .         .         .         .         .         .       g.19217
 caaggatgtgacttgttcaacattctcttctcaaacactgaccaaggaacagaggaagat       c.*60

          .         .         .         .         .         .       g.19277
 gcagtcagagaaagcagcaggatagagacgccgagagaggagtatatgtgggtcacagca       c.*120

          .         .         .         .         .         .       g.19337
 gtgagctcccacccgccttgcagtgaagatgtgaccccaggagagggagtgtctccttcc       c.*180

          .         .         .         .         .         .       g.19397
 aggtgctagctctggacagcagctgattttaggcaggaaagtttcttcatcgttgtcctc       c.*240

          .         .         .         .         .         .       g.19457
 cctgctggtcacatgagtttacgattcctttgaagtgtctcccacagggtggcaggactg       c.*300

          .         .         .         .         .         .       g.19517
 ggagaatctctgaggcgtgtcttccaggccctcccacagcttgtgccctccacagtgtgg       c.*360

          .         .         .         .         .         .       g.19577
 actcaggtcccatagacatcaggctggagtcttctctgttgttgagaataataaaagctc       c.*420

          .                                                         g.19594
 attatttattttttaaa                                                  c.*437

 (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 Retinitis pigmentosa 9 (autosomal dominant) 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.