melanocortin 4 receptor (MC4R) - coding DNA reference sequence

(used for variant description)

(last modified March 19, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_005912.2 in the MC4R gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016441.1, covering MC4R transcript NM_005912.2.

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

 (upstream sequence)
           .         .         .         .         .                g.5059
  aaagcaacgctcaggctggaaacagaagcttccgagaggcagccgatgtgagcatgtgc       c.-361

 .         .         .         .         .         .                g.5119
 gcacagattcgtctcccaatggcatggcagcttcaaggaaaattattttgaacagacttg       c.-301

 .         .         .         .         .         .                g.5179
 aatgcataagattaaagttaaagcagaagtgagaacaagaaagcaaagagcagactcttt       c.-241

 .         .         .         .         .         .                g.5239
 caactgagaatgaatattttgaagcccaagattttaaagtgatgatgattagagtcgtac       c.-181

 .         .         .         .         .         .                g.5299
 ctaaaagagactaaaaactccatgtcaagctctggacttgtgacatttactcacagcagg       c.-121

 .         .         .         .         .         .                g.5359
 catggcaattttagcctcacaactttcagacagataaagacttggaggaaataactgaga       c.-61

 .         .         .         .         .         .                g.5419
 cgactccctgacccaggaggttaaatcaattcagggggacactggaattctcctgccagc       c.-1

          .         .         .         .         .         .       g.5479
 ATGGTGAACTCCACCCACCGTGGGATGCACACTTCTCTGCACCTCTGGAACCGCAGCAGT       c.60
 M  V  N  S  T  H  R  G  M  H  T  S  L  H  L  W  N  R  S  S         p.20

          .         .         .         .         .         .       g.5539
 TACAGACTGCACAGCAATGCCAGTGAGTCCCTTGGAAAAGGCTACTCTGATGGAGGGTGC       c.120
 Y  R  L  H  S  N  A  S  E  S  L  G  K  G  Y  S  D  G  G  C         p.40

          .         .         .         .         .         .       g.5599
 TACGAGCAACTTTTTGTCTCTCCTGAGGTGTTTGTGACTCTGGGTGTCATCAGCTTGTTG       c.180
 Y  E  Q  L  F  V  S  P  E  V  F  V  T  L  G  V  I  S  L  L         p.60

          .         .         .         .         .         .       g.5659
 GAGAATATCTTAGTGATTGTGGCAATAGCCAAGAACAAGAATCTGCATTCACCCATGTAC       c.240
 E  N  I  L  V  I  V  A  I  A  K  N  K  N  L  H  S  P  M  Y         p.80

          .         .         .         .         .         .       g.5719
 TTTTTCATCTGCAGCTTGGCTGTGGCTGATATGCTGGTGAGCGTTTCAAATGGATCAGAA       c.300
 F  F  I  C  S  L  A  V  A  D  M  L  V  S  V  S  N  G  S  E         p.100

          .         .         .         .         .         .       g.5779
 ACCATTGTCATCACCCTATTAAACAGTACAGATACGGATGCACAGAGTTTCACAGTGAAT       c.360
 T  I  V  I  T  L  L  N  S  T  D  T  D  A  Q  S  F  T  V  N         p.120

          .         .         .         .         .         .       g.5839
 ATTGATAATGTCATTGACTCGGTGATCTGTAGCTCCTTGCTTGCATCCATTTGCAGCCTG       c.420
 I  D  N  V  I  D  S  V  I  C  S  S  L  L  A  S  I  C  S  L         p.140

          .         .         .         .         .         .       g.5899
 CTTTCAATTGCAGTGGACAGGTACTTTACTATCTTCTATGCTCTCCAGTACCATAACATT       c.480
 L  S  I  A  V  D  R  Y  F  T  I  F  Y  A  L  Q  Y  H  N  I         p.160

          .         .         .         .         .         .       g.5959
 ATGACAGTTAAGCGGGTTGGGATCATCATAAGTTGTATCTGGGCAGCTTGCACGGTTTCA       c.540
 M  T  V  K  R  V  G  I  I  I  S  C  I  W  A  A  C  T  V  S         p.180

          .         .         .         .         .         .       g.6019
 GGCATTTTGTTCATCATTTACTCAGATAGTAGTGCTGTCATCATCTGCCTCATCACCATG       c.600
 G  I  L  F  I  I  Y  S  D  S  S  A  V  I  I  C  L  I  T  M         p.200

          .         .         .         .         .         .       g.6079
 TTCTTCACCATGCTGGCTCTCATGGCTTCTCTCTATGTCCACATGTTCCTGATGGCCAGG       c.660
 F  F  T  M  L  A  L  M  A  S  L  Y  V  H  M  F  L  M  A  R         p.220

          .         .         .         .         .         .       g.6139
 CTTCACATTAAGAGGATTGCTGTCCTCCCCGGCACTGGTGCCATCCGCCAAGGTGCCAAT       c.720
 L  H  I  K  R  I  A  V  L  P  G  T  G  A  I  R  Q  G  A  N         p.240

          .         .         .         .         .         .       g.6199
 ATGAAGGGAGCGATTACCTTGACCATCCTGATTGGCGTCTTTGTTGTCTGCTGGGCCCCA       c.780
 M  K  G  A  I  T  L  T  I  L  I  G  V  F  V  V  C  W  A  P         p.260

          .         .         .         .         .         .       g.6259
 TTCTTCCTCCACTTAATATTCTACATCTCTTGTCCTCAGAATCCATATTGTGTGTGCTTC       c.840
 F  F  L  H  L  I  F  Y  I  S  C  P  Q  N  P  Y  C  V  C  F         p.280

          .         .         .         .         .         .       g.6319
 ATGTCTCACTTTAACTTGTATCTCATACTGATCATGTGTAATTCAATCATCGATCCTCTG       c.900
 M  S  H  F  N  L  Y  L  I  L  I  M  C  N  S  I  I  D  P  L         p.300

          .         .         .         .         .         .       g.6379
 ATTTATGCACTCCGGAGTCAAGAACTGAGGAAAACCTTCAAAGAGATCATCTGTTGCTAT       c.960
 I  Y  A  L  R  S  Q  E  L  R  K  T  F  K  E  I  I  C  C  Y         p.320

          .         .         .                                     g.6418
 CCCCTGGGAGGCCTTTGTGACTTGTCTAGCAGATATTAA                            c.999
 P  L  G  G  L  C  D  L  S  S  R  Y  X                              p.332

          .         .                                               g.6438
 atggggacagagcacgcaat                                               c.*20

 (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 Melanocortin 4 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.