retinitis pigmentosa 2 (X-linked recessive) (RP2) - coding DNA reference sequence

(used for variant description)

(last modified February 28, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_006915.2 in the RP2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016403.1, covering RP2 transcript NM_006915.2.

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

 (upstream sequence)
                                                                    g.5009
                                                    gggtcgtca       c.-181

 .         .         .         .         .         .                g.5069
 gggcgacgaaaaaggggaaggggtgctgggcctggcgggcaaactaaggctgcggaccgt       c.-121

 .         .         .         .         .         .                g.5129
 tgggcggttccgcggggcgttgtccggagagctgcgaggccggggttcccagggttcacg       c.-61

 .         .         .         .         .         .                g.5189
 ccacactctaggaagtgcctgagctagtgagctggccaacgagctccgcgggctgggacc       c.-1

          .         .         .         .         .         .       g.5249
 ATGGGCTGCTTCTTCTCCAAGAGACGGAAGGCTGACAAGGAGTCGCGGCCCGAGAACGAG       c.60
 M  G  C  F  F  S  K  R  R  K  A  D  K  E  S  R  P  E  N  E         p.20

          .         .         .         .   | 02     .         .    g.21582
 GAGGAGCGGCCAAAGCAGTACAGCTGGGATCAGCGCGAGAAG | GTTGATCCAAAAGACTAC    c.120
 E  E  R  P  K  Q  Y  S  W  D  Q  R  E  K   | V  D  P  K  D  Y      p.40

          .         .         .         .         .         .       g.21642
 ATGTTCAGTGGACTGAAGGATGAAACAGTAGGTCGCTTACCTGGGACGGTAGCAGGACAA       c.180
 M  F  S  G  L  K  D  E  T  V  G  R  L  P  G  T  V  A  G  Q         p.60

          .         .         .         .         .         .       g.21702
 CAGTTTCTCATTCAAGACTGTGAGAACTGTAACATCTATATTTTTGATCACTCTGCTACA       c.240
 Q  F  L  I  Q  D  C  E  N  C  N  I  Y  I  F  D  H  S  A  T         p.80

          .         .         .         .         .         .       g.21762
 GTTACCATTGATGACTGTACTAACTGCATAATTTTTCTGGGACCCGTGAAAGGCAGCGTG       c.300
 V  T  I  D  D  C  T  N  C  I  I  F  L  G  P  V  K  G  S  V         p.100

          .         .         .         .         .         .       g.21822
 TTTTTCCGGAATTGCAGAGATTGCAAGTGCACATTAGCCTGCCAACAATTTCGTGTGCGA       c.360
 F  F  R  N  C  R  D  C  K  C  T  L  A  C  Q  Q  F  R  V  R         p.120

          .         .         .         .         .         .       g.21882
 GATTGTAGAAAGCTGGAAGTCTTTTTGTGTTGTGCCACTCAACCCATCATTGAGTCTTCC       c.420
 D  C  R  K  L  E  V  F  L  C  C  A  T  Q  P  I  I  E  S  S         p.140

          .         .         .         .         .         .       g.21942
 TCAAATATCAAATTTGGATGTTTTCAATGGTACTATCCTGAATTAGCTTTCCAGTTCAAA       c.480
 S  N  I  K  F  G  C  F  Q  W  Y  Y  P  E  L  A  F  Q  F  K         p.160

          .         .         .         .         .         .       g.22002
 GATGCAGGGCTAAGTATCTTCAACAATACATGGAGTAACATTCATGACTTTACACCTGTG       c.540
 D  A  G  L  S  I  F  N  N  T  W  S  N  I  H  D  F  T  P  V         p.180

          .         .         .         .         .         .       g.22062
 TCAGGAGAACTCAACTGGAGCCTTCTTCCAGAAGATGCTGTGGTTCAGGACTATGTTCCT       c.600
 S  G  E  L  N  W  S  L  L  P  E  D  A  V  V  Q  D  Y  V  P         p.200

          .         .         .         .         .         .       g.22122
 ATACCTACTACCGAAGAGCTCAAAGCTGTTCGTGTTTCCACAGAAGCCAATAGAAGCATT       c.660
 I  P  T  T  E  E  L  K  A  V  R  V  S  T  E  A  N  R  S  I         p.220

          .         .         .         .         .         .       g.22182
 GTTCCAATATCCCGGGGTCAGAGACAGAAGAGCAGCGATGAATCATGCTTAGTGGTATTA       c.720
 V  P  I  S  R  G  Q  R  Q  K  S  S  D  E  S  C  L  V  V  L         p.240

          .         .         .         .         | 03         .    g.28088
 TTTGCTGGTGATTACACTATTGCAAATGCCAGAAAACTAATTGATGAG | ATGGTTGGTAAA    c.780
 F  A  G  D  Y  T  I  A  N  A  R  K  L  I  D  E   | M  V  G  K      p.260

          .         .         .         .         .         .       g.28148
 GGCTTTTTCCTAGTTCAGACAAAGGAAGTGTCCATGAAAGCTGAGGATGCTCAAAGGGTT       c.840
 G  F  F  L  V  Q  T  K  E  V  S  M  K  A  E  D  A  Q  R  V         p.280

          .         .         .         .    | 04    .         .    g.45610
 TTTCGGGAAAAAGCACCTGACTTCCTTCCTCTTCTGAACAAAG | GTCCTGTTATTGCCTTG    c.900
 F  R  E  K  A  P  D  F  L  P  L  L  N  K  G |   P  V  I  A  L      p.300

          .         .         .         .         .         .       g.45670
 GAGTTTAATGGGGATGGTGCTGTAGAAGTATGTCAACTTATTGTAAACGAGATATTCAAT       c.960
 E  F  N  G  D  G  A  V  E  V  C  Q  L  I  V  N  E  I  F  N         p.320

           | 05        .         .         .         .         .    g.47825
 GGGACCAAG | ATGTTTGTATCTGAAAGCAAGGAGACGGCATCTGGAGATGTAGACAGCTTC    c.1020
 G  T  K   | M  F  V  S  E  S  K  E  T  A  S  G  D  V  D  S  F      p.340

          .         .         .                                     g.47858
 TACAACTTTGCTGATATACAGATGGGAATATGA                                  c.1053
 Y  N  F  A  D  I  Q  M  G  I  X                                    p.350

          .         .         .         .         .         .       g.47918
 agtgcaatgtggaaccaggacttggtattaagcctttcccaacttgtgaatatagaattt       c.*60

          .         .         .         .         .         .       g.47978
 gataatacacttttgtgtattagcaatggtttttactaatgctaaaacttttaaagttta       c.*120

          .         .         .         .         .         .       g.48038
 ttttttaataaattgttgagtattacatcatttacttgaggttcaaaaataattcatttt       c.*180

          .         .         .         .         .         .       g.48098
 aaattaagtagttttaatcagcttaaaagctatttaacccattttaataagcttgcagtt       c.*240

          .         .         .         .         .         .       g.48158
 ttgtttctctgcatatgatattcttattagaaaacagaagtagctaaaagtttattattt       c.*300

          .         .         .         .         .         .       g.48218
 taatcctatttaaatgttctttcaaatctctaataatttaaactttcctcagtgctccat       c.*360

          .         .         .         .         .         .       g.48278
 gatactttttttgagactccatatcattgcttattttacctttttcaatttagagggatt       c.*420

          .         .         .         .         .         .       g.48338
 tgttactagtcgatcaattagaatgaacctatgcacatttttatgtacacatatccagtt       c.*480

          .         .         .         .         .         .       g.48398
 atataattgcttcctagttgcattatatggcaaatgagattttgtacatggagttgacat       c.*540

          .         .         .         .         .         .       g.48458
 aatactttgtaaattgaattttttaaagaaataggcatttgataaccagcttggcaagta       c.*600

          .         .         .         .         .         .       g.48518
 actctactaacagatgttggtatagctatttaaagactacttcgtaagtagtatgattat       c.*660

          .         .         .         .         .         .       g.48578
 ttgaataaattacacattgtttagttttttaatacaactgctatatgactcttctgcttc       c.*720

          .         .         .         .         .         .       g.48638
 ctgataagaaaaggtatatgcaatgctaaaactgtagaagcccaatcaccagcagttttt       c.*780

          .         .         .         .         .         .       g.48698
 aaaaaggtgataacttttattagctcttgtgggctatcaagagaattggaacaaaacctt       c.*840

          .         .         .         .         .         .       g.48758
 gtgacttttaggtaagaaataggcatgatgataagctatgcagattattaaaaagcttga       c.*900

          .         .         .         .         .         .       g.48818
 tacatttgatttttcattagatatgccattcatatcaagtaatgttcaagtatgataaaa       c.*960

          .         .         .         .         .         .       g.48878
 ttattttggttgctttaaagcactgtttcccaaatctacctgatcataataatttaccag       c.*1020

          .         .         .         .         .         .       g.48938
 gaagcagaggagagctacttgtttaaaaatccacattcttggacccaatcctcagatgca       c.*1080

          .         .         .         .         .         .       g.48998
 cggattcagtcttcaggggaaactctgttttaaggggtatgttgtaatctaaagtaattg       c.*1140

          .         .         .         .         .         .       g.49058
 gttcaggaggtgtcaataggttgaacttgtgagaaggcactgaatctgccatccacatca       c.*1200

          .         .         .         .         .         .       g.49118
 catatagcagctattatgaaatcagctttcataggcctatttttaaaaggaatctgaaat       c.*1260

          .         .         .         .         .         .       g.49178
 ttaattctattttgataaaactaagactgaaaataaccacttgtaaacattcctatgatt       c.*1320

          .         .         .         .         .         .       g.49238
 gttactaaaatgtattttcatgtttaaaatgtttttggatatttttgggttaataactac       c.*1380

          .         .         .         .         .         .       g.49298
 tacattgaattgcatgttaaggtgcagaaataatacattaaaagattttcactttaaatt       c.*1440

          .         .         .         .         .         .       g.49358
 aattagtaatattgagcgctcaccctgtgcgtggccttgtgctaaccattagcactgcat       c.*1500

          .         .         .         .         .         .       g.49418
 catttcaattcttttataagggcattcaatactacaaaatcaacatgatttcataaggtg       c.*1560

          .         .         .         .         .         .       g.49478
 caaataaaagttggtgacagatttaatataattttgatcacaatttacaaatgatctttg       c.*1620

          .         .         .         .         .         .       g.49538
 caaatagtggtcagacggcattagtttttcccttagttaagctaaattaaagggactcca       c.*1680

          .         .         .         .         .         .       g.49598
 tcctgttatgattatattattattattattattattatttttgaggtggagtttcactct       c.*1740

          .         .         .         .         .         .       g.49658
 tgttgcccaagctggagtgcaatggcgcgatctcggctcaccacaacatccgcctcctgg       c.*1800

          .         .         .         .         .         .       g.49718
 gttcaagcgattctcctgcctcagcctcctgagtagctgggaatacaggcatgcgccact       c.*1860

          .         .         .         .         .         .       g.49778
 acacctggctaatttttgtatttttagttgagatggggtttttccacgttggtcaggctg       c.*1920

          .         .         .         .         .         .       g.49838
 gtctcgaactcctgacctcaggtgatccgtccacctcagcctcccaaagagctgggatta       c.*1980

          .         .         .         .         .         .       g.49898
 caggtgtgagctaccgcgcctggccatgatgatattattaaacaccattattcacatttc       c.*2040

          .         .         .         .         .         .       g.49958
 aaataataacaatactttttgtttttcaaaaataaaatgcaatgttatataaagctataa       c.*2100

          .         .         .         .         .         .       g.50018
 actaagttctttatgatatttgagcaacaactcaggaatataacatataagggagatgtt       c.*2160

          .         .         .         .         .         .       g.50078
 aatttaaaaatttccactacacttattatctattaaccaaagcttaaaattttgtattct       c.*2220

          .         .         .         .         .         .       g.50138
 tctgttagataagaccttttacccatttaatttgtctttaaggacagtcatttggcttct       c.*2280

          .         .         .         .         .         .       g.50198
 gaatgtttgaaacgattttaaaaaataagtagtgctatggttgtttctataattctaacc       c.*2340

          .         .         .         .         .         .       g.50258
 tttgatagtaatcagaatgtattacatttcatttctgaatagcttttgaatttatgaaaa       c.*2400

          .         .         .         .         .         .       g.50318
 attattaacaatgaaaaattggtaattttattaagttatatgtgtttaaatattatatta       c.*2460

          .         .         .         .         .         .       g.50378
 gcttatttctcttgcattaatagtactgctgtttttgttttgcttctttatatttatgtc       c.*2520

          .         .         .         .         .         .       g.50438
 tagcttttatatgtaatttatctagtgtttataaaatgtgatttgtaataaatgttgtta       c.*2580

                                                                    g.50447
 aaatgaaaa                                                          c.*2589

 (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 2 (X-linked recessive) 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.