cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6) - coding DNA reference sequence

(used for mutation description)

(last modified July 15, 2014)

This file was created to facilitate the description of sequence variants in the CYP2D6 gene based on a coding DNA reference sequence following the HGVS recommendations.

NOTE: this reference sequence represents haplotype CYP2D6*1 which differs from the reference genome sequence (build hg19). For the coding region the differences include c.408C>G, c.886T>C and c.1457C>G. The sequence was taken from NG_008376.3, covering CYP2D6 transcript NM_000106.5.

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

 (upstream sequence)
                               .         .         .                g.4140
                               gtgctgagagtgtcctgcctggtcctctgt       c.-61

 .         .         .         .         .         .                g.4200
 gcctggtggggtgggggtgccaggtgtgtccagaggagcccatttggtagtgaggcaggt       c.-1

          .         .         .         .         .         .       g.4260
 ATGGGGCTAGAAGCACTGGTGCCCCTGGCCGTGATAGTGGCCATCTTCCTGCTCCTGGTG       c.60
 M  G  L  E  A  L  V  P  L  A  V  I  V  A  I  F  L  L  L  V         p.20

          .         .         .         .         .         .       g.4320
 GACCTGATGCACCGGCGCCAACGCTGGGCTGCACGCTACCCACCAGGCCCCCTGCCACTG       c.120
 D  L  M  H  R  R  Q  R  W  A  A  R  Y  P  P  G  P  L  P  L         p.40

          .         .         .         .         .         .       g.4380
 CCCGGGCTGGGCAACCTGCTGCATGTGGACTTCCAGAACACACCATACTGCTTCGACCAG       c.180
 P  G  L  G  N  L  L  H  V  D  F  Q  N  T  P  Y  C  F  D  Q         p.60

  | 02       .         .         .         .         .         .    g.5142
  | TTGCGGCGCCGCTTCGGGGACGTGTTCAGCCTGCAGCTGGCCTGGACGCCGGTGGTCGTG    c.240
  | L  R  R  R  F  G  D  V  F  S  L  Q  L  A  W  T  P  V  V  V      p.80

          .         .         .         .         .         .       g.5202
 CTCAATGGGCTGGCGGCCGTGCGCGAGGCGCTGGTGACCCACGGCGAGGACACCGCCGAC       c.300
 L  N  G  L  A  A  V  R  E  A  L  V  T  H  G  E  D  T  A  D         p.100

          .         .         .         .         .   | 03     .    g.5814
 CGCCCGCCTGTGCCCATCACCCAGATCCTGGGTTTCGGGCCGCGTTCCCAAG | GGGTGTTC    c.360
 R  P  P  V  P  I  T  Q  I  L  G  F  G  P  R  S  Q  G |   V  F      p.120

          .         .         .         .         .         .       g.5874
 CTGGCGCGCTATGGGCCCGCGTGGCGCGAGCAGAGGCGCTTCTCCGTGTCCACCTTGCGC       c.420
 L  A  R  Y  G  P  A  W  R  E  Q  R  R  F  S  V  S  T  L  R         p.140

          .         .         .         .         .         .       g.5934
 AACTTGGGCCTGGGCAAGAAGTCGCTGGAGCAGTGGGTGACCGAGGAGGCCGCCTGCCTT       c.480
 N  L  G  L  G  K  K  S  L  E  Q  W  V  T  E  E  A  A  C  L         p.160

          .         .      | 04  .         .         .         .    g.6082
 TGTGCCGCCTTCGCCAACCACTCCG | GACGCCCCTTTCGCCCCAACGGTCTCTTGGACAAA    c.540
 C  A  A  F  A  N  H  S  G |   R  P  F  R  P  N  G  L  L  D  K      p.180

          .         .         .         .         .         .       g.6142
 GCCGTGAGCAACGTGATCGCCTCCCTCACCTGCGGGCGCCGCTTCGAGTACGACGACCCT       c.600
 A  V  S  N  V  I  A  S  L  T  C  G  R  R  F  E  Y  D  D  P         p.200

          .         .         .         .         .         .       g.6202
 CGCTTCCTCAGGCTGCTGGACCTAGCTCAGGAGGGACTGAAGGAGGAGTCGGGCTTTCTG       c.660
 R  F  L  R  L  L  D  L  A  Q  E  G  L  K  E  E  S  G  F  L         p.220

        | 05 .         .         .         .         .         .    g.6695
 CGCGAG | GTGCTGAATGCTGTCCCCGTCCTCCTGCATATCCCAGCGCTGGCTGGCAAGGTC    c.720
 R  E   | V  L  N  A  V  P  V  L  L  H  I  P  A  L  A  G  K  V      p.240

          .         .         .         .         .         .       g.6755
 CTACGCTTCCAAAAGGCTTTCCTGACCCAGCTGGATGAGCTGCTAACTGAGCACAGGATG       c.780
 L  R  F  Q  K  A  F  L  T  Q  L  D  E  L  L  T  E  H  R  M         p.260

          .         .         .         .         .         .       g.6815
 ACCTGGGACCCAGCCCAGCCCCCCCGAGACCTGACTGAGGCCTTCCTGGCAGAGATGGAG       c.840
 T  W  D  P  A  Q  P  P  R  D  L  T  E  A  F  L  A  E  M  E         p.280

     | 06    .         .         .         .         .         .    g.7065
 AAG | GCCAAGGGGAACCCTGAGAGCAGCTTCAATGATGAGAACCTGCGCATAGTGGTGGCT    c.900
 K   | A  K  G  N  P  E  S  S  F  N  D  E  N  L  R  I  V  V  A      p.300

          .         .         .         .         .         .       g.7125
 GACCTGTTCTCTGCCGGGATGGTGACCACCTCGACCACGCTGGCCTGGGGCCTCCTGCTC       c.960
 D  L  F  S  A  G  M  V  T  T  S  T  T  L  A  W  G  L  L  L         p.320

          .         .      | 07  .         .         .         .    g.7392
 ATGATCCTACATCCGGATGTGCAGC | GCCGTGTCCAACAGGAGATCGACGACGTGATAGGG    c.1020
 M  I  L  H  P  D  V  Q  R |   R  V  Q  Q  E  I  D  D  V  I  G      p.340

          .         .         .         .         .         .       g.7452
 CAGGTGCGGCGACCAGAGATGGGTGACCAGGCTCACATGCCCTACACCACTGCCGTGATT       c.1080
 Q  V  R  R  P  E  M  G  D  Q  A  H  M  P  Y  T  T  A  V  I         p.360

          .         .         .         .         .         .       g.7512
 CATGAGGTGCAGCGCTTTGGGGACATCGTCCCCCTGGGTGTGACCCATATGACATCCCGT       c.1140
 H  E  V  Q  R  F  G  D  I  V  P  L  G  V  T  H  M  T  S  R         p.380

          .         .         .    | 08    .         .         .    g.8026
 GACATCGAAGTACAGGGCTTCCGCATCCCTAAG | GGAACGACACTCATCACCAACCTGTCA    c.1200
 D  I  E  V  Q  G  F  R  I  P  K   | G  T  T  L  I  T  N  L  S      p.400

          .         .         .         .         .         .       g.8086
 TCGGTGCTGAAGGATGAGGCCGTCTGGGAGAAGCCCTTCCGCTTCCACCCCGAACACTTC       c.1260
 S  V  L  K  D  E  A  V  W  E  K  P  F  R  F  H  P  E  H  F         p.420

          .         .         .         .         .      | 09  .    g.8244
 CTGGATGCCCAGGGCCACTTTGTGAAGCCGGAGGCCTTCCTGCCTTTCTCAGCAG | GCCGC    c.1320
 L  D  A  Q  G  H  F  V  K  P  E  A  F  L  P  F  S  A  G |   R      p.440

          .         .         .         .         .         .       g.8304
 CGTGCATGCCTCGGGGAGCCCCTGGCCCGCATGGAGCTCTTCCTCTTCTTCACCTCCCTG       c.1380
 R  A  C  L  G  E  P  L  A  R  M  E  L  F  L  F  F  T  S  L         p.460

          .         .         .         .         .         .       g.8364
 CTGCAGCACTTCAGCTTCTCGGTGCCCACTGGACAGCCCCGGCCCAGCCACCATGGTGTC       c.1440
 L  Q  H  F  S  F  S  V  P  T  G  Q  P  R  P  S  H  H  G  V         p.480

          .         .         .         .         .                 g.8418
 TTTGCTTTCCTGGTGAGCCCATCCCCCTATGAGCTTTGTGCTGTGCCCCGCTAG             c.1494
 F  A  F  L  V  S  P  S  P  Y  E  L  C  A  V  P  R  X               p.497

          .         .         .         .         .         .       g.8478
 aatggggtacctagtccccagcctgctccctagccagaggctctaatgtacaataaagca       c.*60

          .                                                         g.8493
 atgtggtagttccaa                                                    c.*75

 (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 Cytochrome P450, family 2, subfamily D, polypeptide 6 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.