melatonin receptor 1B (MTNR1B) - coding DNA reference sequence

(used for variant description)

(last modified September 6, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_005959.3 in the MTNR1B gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_028160.1, covering MTNR1B transcript NM_005959.3.

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

 (upstream sequence)
                     .         .         .         .                g.5043
                  acgcgagctgggcagggaagagagcgcccggctcagtactgcg       c.-61

 .         .         .         .         .         .                g.5103
 cgcgccctgcggctgtccggggccgcgcggtggccaaagcacagcgcgggagagtctgcg       c.-1

          .         .         .         .         .         .       g.5163
 ATGTCAGAGAACGGCTCCTTCGCCAACTGCTGCGAGGCGGGCGGGTGGGCAGTGCGCCCG       c.60
 M  S  E  N  G  S  F  A  N  C  C  E  A  G  G  W  A  V  R  P         p.20

          .         .         .         .         .         .       g.5223
 GGCTGGTCGGGGGCTGGCAGCGCGCGGCCCTCCAGGACCCCTCGACCTCCCTGGGTGGCT       c.120
 G  W  S  G  A  G  S  A  R  P  S  R  T  P  R  P  P  W  V  A         p.40

          .         .         .         .         .         .       g.5283
 CCAGCGCTGTCCGCGGTGCTCATCGTCACCACCGCCGTGGACGTCGTGGGCAACCTCCTG       c.180
 P  A  L  S  A  V  L  I  V  T  T  A  V  D  V  V  G  N  L  L         p.60

          .         .         .         .    | 02    .         .    g.16841
 GTGATCCTCTCCGTGCTCAGGAACCGCAAGCTCCGGAACGCAG | GTAATTTGTTCTTGGTG    c.240
 V  I  L  S  V  L  R  N  R  K  L  R  N  A  G |   N  L  F  L  V      p.80

          .         .         .         .         .         .       g.16901
 AGTCTGGCATTGGCTGACCTGGTGGTGGCCTTCTACCCCTACCCGCTAATCCTCGTGGCC       c.300
 S  L  A  L  A  D  L  V  V  A  F  Y  P  Y  P  L  I  L  V  A         p.100

          .         .         .         .         .         .       g.16961
 ATCTTCTATGACGGCTGGGCCCTGGGGGAGGAGCACTGCAAGGCCAGCGCCTTTGTGATG       c.360
 I  F  Y  D  G  W  A  L  G  E  E  H  C  K  A  S  A  F  V  M         p.120

          .         .         .         .         .         .       g.17021
 GGCCTGAGCGTCATCGGCTCTGTCTTCAATATCACTGCCATCGCCATTAACCGCTACTGC       c.420
 G  L  S  V  I  G  S  V  F  N  I  T  A  I  A  I  N  R  Y  C         p.140

          .         .         .         .         .         .       g.17081
 TACATCTGCCACAGCATGGCCTACCACCGAATCTACCGGCGCTGGCACACCCCTCTGCAC       c.480
 Y  I  C  H  S  M  A  Y  H  R  I  Y  R  R  W  H  T  P  L  H         p.160

          .         .         .         .         .         .       g.17141
 ATCTGCCTCATCTGGCTCCTCACCGTGGTGGCCTTGCTGCCCAACTTCTTTGTGGGGTCC       c.540
 I  C  L  I  W  L  L  T  V  V  A  L  L  P  N  F  F  V  G  S         p.180

          .         .         .         .         .         .       g.17201
 CTGGAGTACGACCCACGCATCTATTCCTGCACCTTCATCCAGACCGCCAGCACCCAGTAC       c.600
 L  E  Y  D  P  R  I  Y  S  C  T  F  I  Q  T  A  S  T  Q  Y         p.200

          .         .         .         .         .         .       g.17261
 ACGGCGGCAGTGGTGGTCATCCACTTCCTCCTCCCTATCGCTGTCGTGTCCTTCTGCTAC       c.660
 T  A  A  V  V  V  I  H  F  L  L  P  I  A  V  V  S  F  C  Y         p.220

          .         .         .         .         .         .       g.17321
 CTGCGCATCTGGGTGCTGGTGCTTCAGGCCCGCAGGAAAGCCAAGCCAGAGAGCAGGCTG       c.720
 L  R  I  W  V  L  V  L  Q  A  R  R  K  A  K  P  E  S  R  L         p.240

          .         .         .         .         .         .       g.17381
 TGCCTGAAGCCCAGCGACTTGCGGAGCTTTCTAACCATGTTTGTGGTGTTTGTGATCTTT       c.780
 C  L  K  P  S  D  L  R  S  F  L  T  M  F  V  V  F  V  I  F         p.260

          .         .         .         .         .         .       g.17441
 GCCATCTGCTGGGCTCCACTTAACTGCATCGGCCTCGCTGTGGCCATCAACCCCCAAGAA       c.840
 A  I  C  W  A  P  L  N  C  I  G  L  A  V  A  I  N  P  Q  E         p.280

          .         .         .         .         .         .       g.17501
 ATGGCTCCCCAGATCCCTGAGGGGCTATTTGTCACTAGCTACTTACTGGCTTATTTCAAC       c.900
 M  A  P  Q  I  P  E  G  L  F  V  T  S  Y  L  L  A  Y  F  N         p.300

          .         .         .         .         .         .       g.17561
 AGCTGCCTGAATGCCATTGTCTATGGGCTCTTGAACCAAAACTTCCGCAGGGAATACAAG       c.960
 S  C  L  N  A  I  V  Y  G  L  L  N  Q  N  F  R  R  E  Y  K         p.320

          .         .         .         .         .         .       g.17621
 AGGATCCTCTTGGCCCTTTGGAACCCACGGCACTGCATTCAAGATGCTTCCAAGGGCAGC       c.1020
 R  I  L  L  A  L  W  N  P  R  H  C  I  Q  D  A  S  K  G  S         p.340

          .         .         .         .         .         .       g.17681
 CACGCGGAGGGGCTGCAGAGCCCAGCTCCACCCATCATTGGTGTGCAGCACCAGGCAGAT       c.1080
 H  A  E  G  L  Q  S  P  A  P  P  I  I  G  V  Q  H  Q  A  D         p.360

                                                                    g.17690
 GCTCTCTAG                                                          c.1089
 A  L  X                                                            p.362

          .         .         .         .         .         .       g.17750
 cctggatctgaggcacaccagcagcatgacaaactcatgaaatggtgggagagagtctgc       c.*60

          .         .         .         .         .         .       g.17810
 tgcaagggtgagaccaggcagcctgctgggccacactgtcctgttggcatcacagcccca       c.*120

          .         .         .         .         .         .       g.17870
 aggctgggggaacttcatgctgggacaagcagcccatcaacgccatgggttcaggctgat       c.*180

          .         .         .         .         .         .       g.17930
 ccaggagatgctcacaggccacaggacctggaaaacactcttggtggtgtcttggggatt       c.*240

          .         .         .         .         .         .       g.17990
 tggtgcacacaagaccaaggaaaggacagaatgaggaaaggcctggggcagaagagccca       c.*300

          .         .         .         .         .         .       g.18050
 actccttctcatagctgaccctcatcctcctgccttggcctcctggctgctttctcccct       c.*360

          .         .         .         .         .         .       g.18110
 tccccccagcgtggcaggatctcttcctgttagcaaggatgaaagagagaggtcagtagg       c.*420

          .         .         .         .         .                 g.18160
 actggaacttggtaactgcaagggcctcaggtggggcaggtgcagagggc                 c.*470

 (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 Melatonin receptor 1B 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.