retinal G protein coupled receptor (RGR) - 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_002921.3 in the RGR gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009106.1, covering RGR transcript NM_002921.3.

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

 (upstream sequence)
                               .         .         .                g.5038
                       agagacagctgggccactggcagtgagggagagtgagg       c.-1

          .         .         .         .         .         .       g.5098
 ATGGCAGAGACCAGTGCCCTGCCCACTGGCTTCGGGGAGCTCGAGGTGCTGGCTGTGGGG       c.60
 M  A  E  T  S  A  L  P  T  G  F  G  E  L  E  V  L  A  V  G         p.20

          .          | 02        .         .         .         .    g.7579
 ATGGTGCTACTGGTGGAAG | CTCTCTCCGGTCTCAGCCTCAATACCCTGACCATCTTCTCT    c.120
 M  V  L  L  V  E  A |   L  S  G  L  S  L  N  T  L  T  I  F  S      p.40

          .         .         .         .         .         .       g.7639
 TTCTGCAAGACCCCGGAGCTGCGGACTCCCTGCCACCTACTGGTGCTGAGCTTGGCTCTT       c.180
 F  C  K  T  P  E  L  R  T  P  C  H  L  L  V  L  S  L  A  L         p.60

          .         .         .         .         .       | 03 .    g.8861
 GCGGACAGTGGGATCAGCCTGAATGCCCTCGTTGCAGCCACATCCAGCCTTCTCCG | TGTC    c.240
 A  D  S  G  I  S  L  N  A  L  V  A  A  T  S  S  L  L  R  |  V      p.80

          .         .         .         .         .         .       g.8921
 TCCCACAGGCGCTGGCCCTACGGCTCGGACGGCTGCCAGGCTCACGGCTTCCAGGGCTTT       c.300
 S  H  R  R  W  P  Y  G  S  D  G  C  Q  A  H  G  F  Q  G  F         p.100

          .         .         .         .         .         .       g.8981
 GTGACAGCGTTGGCCAGCATCTGCAGCAGTGCAGCCATCGCATGGGGGCGTTATCACCAC       c.360
 V  T  A  L  A  S  I  C  S  S  A  A  I  A  W  G  R  Y  H  H         p.120

          . | 04       .         .         .         .         .    g.12854
 TACTGCACCC | GTAGCCAGCTGGCCTGGAACTCAGCCGTCTCTCTGGTGCTCTTCGTGTGG    c.420
 Y  C  T  R |   S  Q  L  A  W  N  S  A  V  S  L  V  L  F  V  W      p.140

          .         .         .         .         .         .       g.12914
 CTGTCTTCTGCCTTCTGGGCAGCTCTGCCCCTTCTGGGTTGGGGTCACTACGACTATGAG       c.480
 L  S  S  A  F  W  A  A  L  P  L  L  G  W  G  H  Y  D  Y  E         p.160

          .         .         .         .     | 05   .         .    g.14289
 CCACTGGGGACATGCTGCACCCTGGACTACTCCAAGGGGGACAG | AAACTTCACCAGCTTC    c.540
 P  L  G  T  C  C  T  L  D  Y  S  K  G  D  R  |  N  F  T  S  F      p.180

          .         .         .         .         .         .       g.14349
 CTCTTCACCATGTCCTTCTTCAACTTCGCCATGCCCCTCTTCATCACGATCACTTCCTAC       c.600
 L  F  T  M  S  F  F  N  F  A  M  P  L  F  I  T  I  T  S  Y         p.200

          .         .         .         .   | 06     .         .    g.17858
 AGTCTCATGGAGCAGAAACTGGGGAAGAGTGGCCATCTCCAG | GTAAACACCACTCTGCCA    c.660
 S  L  M  E  Q  K  L  G  K  S  G  H  L  Q   | V  N  T  T  L  P      p.220

          .         .         .         .         .         .       g.17918
 GCAAGGACGCTGCTGCTCGGCTGGGGCCCCTATGCCATCCTGTATCTATACGCAGTCATC       c.720
 A  R  T  L  L  L  G  W  G  P  Y  A  I  L  Y  L  Y  A  V  I         p.240

          .         .         .       | 07 .         .         .    g.18479
 GCAGACGTGACTTCCATCTCCCCCAAACTGCAGATG | GTGCCCGCCCTCATTGCCAAAATG    c.780
 A  D  V  T  S  I  S  P  K  L  Q  M   | V  P  A  L  I  A  K  M      p.260

          .         .         .         .         .         .       g.18539
 GTGCCCACGATCAATGCCATCAACTATGCCCTGGGCAATGAGATGGTCTGCAGGGGAATC       c.840
 V  P  T  I  N  A  I  N  Y  A  L  G  N  E  M  V  C  R  G  I         p.280

          .         .         .         .                           g.18587
 TGGCAGTGCCTCTCACCGCAGAAGAGGGAGAAGGACCGAACCAAGTGA                   c.888
 W  Q  C  L  S  P  Q  K  R  E  K  D  R  T  K  X                     p.295

          .         .         .         .         .         .       g.18647
 gcctgccaccctggagtgagccccaggccaggaggctgttccaggagtcctgcccagcag       c.*60

          .         .         .         .         .         .       g.18707
 cctcagtggccaagcccagacactcacccaccttccccagtggccccgtggatcctggtc       c.*120

          .         .         .         .         .         .       g.18767
 ctaggctggacacaggattcagaaagacaccaggctgcacagaaagagccagatggacct       c.*180

          .         .         .         .         .         .       g.18827
 gagtgtcggtcacagccccctacactcaaggctgagaggcctcaggaaagtcattccttt       c.*240

          .         .         .         .         .         .       g.18887
 ttaaaaataataataaatgtaagggggtacagtgcagttttgttacatggatagattgcc       c.*300

          .         .         .         .         .         .       g.18947
 tagtggtgaagtctgggcttttagtgtaaccatcaccctaataatatacgttgtacccat       c.*360

          .         .         .         .         .         .       g.19007
 taagttatttctcatccctcaccccctcccaccttgtcacccttctgagtctccaatgtc       c.*420

          .         .         .         .         .         .       g.19067
 tattattccacactccatgtccacgtgtacacattatttagctcccacttacaagtgaga       c.*480

          .         .         .         .         .         .       g.19127
 acatgtggtatttgactttctgtttttgagttatttcacttaaaataatgacctccagtt       c.*540

                                                                    g.19136
 tcatccatg                                                          c.*549

 (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 Retinal G protein coupled receptor 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.