peripherin (PRPH) - coding DNA reference sequence

(used for variant description)

(last modified July 29, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_006262.3 in the PRPH gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008354.1, covering PRPH transcript NM_006262.3.

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

 (upstream sequence)
                                                   .                g.5015
                                              cctcgcagcggtctg       c.-61

 .         .         .         .         .         .                g.5075
 cggctccttcccagcccccggcctagctctgcgaacggtgactgcccatccttggccgca       c.-1

          .         .         .         .         .         .       g.5135
 ATGAGCCACCACCCGTCGGGCCTCCGGGCCGGCTTCAGCTCCACCTCATACCGCCGTACC       c.60
 M  S  H  H  P  S  G  L  R  A  G  F  S  S  T  S  Y  R  R  T         p.20

          .         .         .         .         .         .       g.5195
 TTCGGTCCACCGCCCTCACTATCCCCCGGGGCCTTCTCCTACTCGTCCAGCTCCCGCTTC       c.120
 F  G  P  P  P  S  L  S  P  G  A  F  S  Y  S  S  S  S  R  F         p.40

          .         .         .         .         .         .       g.5255
 TCCAGCAGCCGCCTGCTGGGCTCCGCGTCCCCGAGCTCCTCGGTGCGCCTGGGCAGCTTC       c.180
 S  S  S  R  L  L  G  S  A  S  P  S  S  S  V  R  L  G  S  F         p.60

          .         .         .         .         .         .       g.5315
 CGTAGCCCCCGAGCGGGAGCGGGCGCCCTCCTGCGCCTGCCCTCGGAGCGCCTCGACTTC       c.240
 R  S  P  R  A  G  A  G  A  L  L  R  L  P  S  E  R  L  D  F         p.80

          .         .         .         .         .         .       g.5375
 TCCATGGCCGAGGCCCTCAACCAGGAGTTCCTGGCCACGCGCAGCAACGAGAAGCAGGAG       c.300
 S  M  A  E  A  L  N  Q  E  F  L  A  T  R  S  N  E  K  Q  E         p.100

          .         .         .         .         .         .       g.5435
 CTGCAGGAGCTCAACGACCGCTTCGCCAACTTCATCGAGAAGGTACGCTTTCTGGAGCAG       c.360
 L  Q  E  L  N  D  R  F  A  N  F  I  E  K  V  R  F  L  E  Q         p.120

          .         .         .         .         .         .       g.5495
 CAGAACGCGGCCCTGCGCGGGGAGCTGAGCCAAGCCCGGGGCCAGGAGCCGGCGCGCGCC       c.420
 Q  N  A  A  L  R  G  E  L  S  Q  A  R  G  Q  E  P  A  R  A         p.140

          .         .         .         .         .         .       g.5555
 GACCAGCTGTGCCAGCAGGAGCTGCGCGAGCTGCGGCGAGAGCTGGAGCTGTTGGGCCGC       c.480
 D  Q  L  C  Q  Q  E  L  R  E  L  R  R  E  L  E  L  L  G  R         p.160

          .         .         .         .         .         .       g.5615
 GAGCGTGACCGGGTGCAGGTGGAGCGCGACGGGCTGGCGGAGGACCTGGCGGCGCTCAAG       c.540
 E  R  D  R  V  Q  V  E  R  D  G  L  A  E  D  L  A  A  L  K         p.180

       | 02  .         .         .         .         .         .    g.6107
 CAGAG | GTTGGAGGAGGAGACGCGCAAGCGGGAGGACGCGGAGCACAACCTCGTGCTCTTC    c.600
 Q  R  |  L  E  E  E  T  R  K  R  E  D  A  E  H  N  L  V  L  F      p.200

        | 03 .         .         .         .         .         .    g.6360
 CGCAAG | GACGTGGACGATGCCACTCTGTCCCGCCTGGAACTAGAGCGCAAGATTGAGTCT    c.660
 R  K   | D  V  D  D  A  T  L  S  R  L  E  L  E  R  K  I  E  S      p.220

          .         .         .         .   | 04     .         .    g.6781
 CTGATGGATGAGATTGAGTTCCTCAAGAAGCTGCACGAGGAG | GAGCTGCGAGACCTGCAG    c.720
 L  M  D  E  I  E  F  L  K  K  L  H  E  E   | E  L  R  D  L  Q      p.240

          .         .         .         .         .         .       g.6841
 GTGAGTGTGGAGAGCCAGCAGGTGCAGCAGGTGGAGGTGGAAGCCACGGTGAAGCCCGAG       c.780
 V  S  V  E  S  Q  Q  V  Q  Q  V  E  V  E  A  T  V  K  P  E         p.260

          .         .         .         .         .         .       g.6901
 CTGACGGCAGCGCTGAGGGACATCCGCGCGCAGTACGAGAGCATCGCCGCGAAGAACCTG       c.840
 L  T  A  A  L  R  D  I  R  A  Q  Y  E  S  I  A  A  K  N  L         p.280

          .         .         . | 05       .         .         .    g.7052
 CAGGAGGCGGAGGAGTGGTACAAGTCCAAG | TACGCGGACCTGTCCGACGCTGCCAACCGG    c.900
 Q  E  A  E  E  W  Y  K  S  K   | Y  A  D  L  S  D  A  A  N  R      p.300

          .         .         .         .         .         .       g.7112
 AACCACGAGGCCCTGCGCCAGGCCAAGCAGGAGATGAACGAGTCCCGACGCCAGATCCAG       c.960
 N  H  E  A  L  R  Q  A  K  Q  E  M  N  E  S  R  R  Q  I  Q         p.320

          .         .         .       | 06 .         .         .    g.7255
 AGTCTAACGTGCGAGGTGGACGGGCTGCGCGGCACG | AACGAGGCGCTGCTCAGGCAGTTG    c.1020
 S  L  T  C  E  V  D  G  L  R  G  T   | N  E  A  L  L  R  Q  L      p.340

          .         .         .         .         .         .       g.7315
 AGAGAGCTGGAGGAGCAGTTCGCCCTGGAGGCGGGGGGCTACCAGGCGGGCGCTGCGCGG       c.1080
 R  E  L  E  E  Q  F  A  L  E  A  G  G  Y  Q  A  G  A  A  R         p.360

          .         .         .         .         .         .       g.7375
 CTCGAGGAGGAGCTGCGACAGCTAAAAGAGGAGATGGCGCGGCACCTGAGGGAGTACCAG       c.1140
 L  E  E  E  L  R  Q  L  K  E  E  M  A  R  H  L  R  E  Y  Q         p.380

          .         .         .         .         .         .       g.7435
 GAGCTCCTCAACGTCAAGATGGCCCTGGACATCGAGATCGCCACCTACCGCAAGCTGCTG       c.1200
 E  L  L  N  V  K  M  A  L  D  I  E  I  A  T  Y  R  K  L  L         p.400

          .        | 07.         .         .         .         .    g.7594
 GAGGGCGAGGAGAGCCG | GATCTCCGTGCCCGTCCATTCTTTTGCCTCCTTAAATATAAAG    c.1260
 E  G  E  E  S  R  |  I  S  V  P  V  H  S  F  A  S  L  N  I  K      p.420

         | 08.         .         .         .         .         .    g.7885
 ACGACTG | TGCCTGAGGTGGAGCCTCCCCAGGACAGCCACAGCCGGAAGACGGTTCTGATC    c.1320
 T  T  V |   P  E  V  E  P  P  Q  D  S  H  S  R  K  T  V  L  I      p.440

          .         .        | 09.         .         .         .    g.8195
 AAGACCATTGAGACCCGGAATGGGGAG | GTGGTGACAGAGTCCCAGAAGGAGCAGCGCAGT    c.1380
 K  T  I  E  T  R  N  G  E   | V  V  T  E  S  Q  K  E  Q  R  S      p.460

          .         .         .                                     g.8228
 GAGCTGGACAAGTCTTCTGCCCACAGTTACTGA                                  c.1413
 E  L  D  K  S  S  A  H  S  Y  X                                    p.470

          .         .         .         .         .         .       g.8288
 accccttggtccggagccttgactctgccctaggcctgctcaaagcccaaaccctaagac       c.*60

          .         .         .         .         .         .       g.8348
 cactcctgaattgtctcctctccctctgcatgtgtctaaaaggtggtaccaggcatccct       c.*120

          .         .         .         .         .         .       g.8408
 ttcctggcttatggccaagccctacccggccagcagtcgctgggcctctccctgccctga       c.*180

          .         .         .         .         .         .       g.8468
 cacttgatgtgacctatgtgcttcccttttcatgtcccgataagaagccaatgatccccc       c.*240

          .         .         .         .         .         .       g.8528
 ctcaggacaaatctactccagccacgatgagaagtgggtgagccagggtctgagtttcac       c.*300

          .         .         .         .                           g.8573
 atttgaaccaaataaaatgctgtcaagagaaaactctccagtgca                      c.*345

 (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 Peripherin 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.