cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1) - coding DNA reference sequence

(used for variant description)

(last modified May 15, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_000774.3 in the CYP2F1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007930.1, covering CYP2F1 transcript NM_000774.3.

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

 (upstream sequence)
           .         .         .         .         | 02             g.6741
     gcaggctctagcgcatcccagccagtgtctcctgcagctcagcag | ctgccttcacc    c.-1

          .         .         .         .         .         .       g.6801
 ATGGACAGCATAAGCACAGCCATCTTACTCCTGCTCCTGGCTCTCGTCTGTCTGCTCCTG       c.60
 M  D  S  I  S  T  A  I  L  L  L  L  L  A  L  V  C  L  L  L         p.20

          .         .         .         .         .         .       g.6861
 ACCCTAAGCTCAAGAGATAAGGGAAAGCTGCCTCCGGGACCCAGACCCCTCTCAATCCTG       c.120
 T  L  S  S  R  D  K  G  K  L  P  P  G  P  R  P  L  S  I  L         p.40

          .         .         .         .         .  | 03      .    g.7016
 GGAAACCTGCTGCTGCTTTGCTCCCAAGACATGCTGACTTCTCTCACTAAG | CTGAGCAAG    c.180
 G  N  L  L  L  L  C  S  Q  D  M  L  T  S  L  T  K   | L  S  K      p.60

          .         .         .         .         .         .       g.7076
 GAGTATGGCTCCATGTACACAGTGCACCTGGGACCCAGGCGGGTGGTGGTCCTCAGCGGG       c.240
 E  Y  G  S  M  Y  T  V  H  L  G  P  R  R  V  V  V  L  S  G         p.80

          .         .         .         .         .         .       g.7136
 TACCAAGCTGTGAAGGAGGCCCTGGTGGACCAGGGAGAGGAGTTTAGTGGCCGCGGTGAC       c.300
 Y  Q  A  V  K  E  A  L  V  D  Q  G  E  E  F  S  G  R  G  D         p.100

          .         .         .     | 04   .         .         .    g.10925
 TACCCTGCCTTTTTCAACTTTACCAAGGGCAATG | GCATCGCCTTCTCCAGTGGGGATCGA    c.360
 Y  P  A  F  F  N  F  T  K  G  N  G |   I  A  F  S  S  G  D  R      p.120

          .         .         .         .         .         .       g.10985
 TGGAAGGTCCTGAGACAGTTCTCTATCCAGATTCTACGGAATTTCGGGATGGGGAAGAGA       c.420
 W  K  V  L  R  Q  F  S  I  Q  I  L  R  N  F  G  M  G  K  R         p.140

          .         .         .         .         .         .       g.11045
 AGCATTGAGGAGCGAATCCTAGAGGAGGGCAGCTTCCTGCTGGCGGAGCTGCGGAAAACT       c.480
 S  I  E  E  R  I  L  E  E  G  S  F  L  L  A  E  L  R  K  T         p.160

      | 05   .         .         .         .         .         .    g.12066
 GAAG | GCGAGCCCTTTGACCCCACGTTTGTGCTGAGTCGCTCAGTGTCCAACATTATCTGT    c.540
 E  G |   E  P  F  D  P  T  F  V  L  S  R  S  V  S  N  I  I  C      p.180

          .         .         .         .         .         .       g.12126
 TCCGTGCTCTTCGGCAGCCGCTTCGACTATGATGATGAGCGTCTGCTCACCATTATCCGC       c.600
 S  V  L  F  G  S  R  F  D  Y  D  D  E  R  L  L  T  I  I  R         p.200

          .         .         .         .      | 06  .         .    g.12524
 CTTATCAATGACAACTTCCAAATCATGAGCAGCCCCTGGGGCGAG | TTGTACGACATCTTC    c.660
 L  I  N  D  N  F  Q  I  M  S  S  P  W  G  E   | L  Y  D  I  F      p.220

          .         .         .         .         .         .       g.12584
 CCGAGCCTCCTGGACTGGGTGCCTGGGCCGCACCAACGCATCTTCCAGAACTTCAAGTGC       c.720
 P  S  L  L  D  W  V  P  G  P  H  Q  R  I  F  Q  N  F  K  C         p.240

          .         .         .         .         .         .       g.12644
 CTGAGAGACCTCATCGCCCACAGCGTCCACGACCACCAGGCCTCGCTAGACCCCAGATCT       c.780
 L  R  D  L  I  A  H  S  V  H  D  H  Q  A  S  L  D  P  R  S         p.260

          .         .         .         .   | 07     .         .    g.13392
 CCCCGGGACTTCATCCAGTGCTTCCTCACCAAGATGGCAGAG | GAGAAGGAGGACCCACTG    c.840
 P  R  D  F  I  Q  C  F  L  T  K  M  A  E   | E  K  E  D  P  L      p.280

          .         .         .         .         .         .       g.13452
 AGCCACTTCCACATGGATACCCTGCTGATGACCACACATAACCTGCTCTTTGGCGGCACC       c.900
 S  H  F  H  M  D  T  L  L  M  T  T  H  N  L  L  F  G  G  T         p.300

          .         .         .         .         .         .       g.13512
 AAGACGGTGAGCACCACGCTGCACCACGCCTTCCTGGCACTCATGAAGTACCCAAAAGTT       c.960
 K  T  V  S  T  T  L  H  H  A  F  L  A  L  M  K  Y  P  K  V         p.320

      | 08   .         .         .         .         .         .    g.15327
 CAAG | CCCGCGTGCAGGAGGAGATCGACCTCGTGGTGGGACGCGCGCGGCTGCCGGCGCTG    c.1020
 Q  A |   R  V  Q  E  E  I  D  L  V  V  G  R  A  R  L  P  A  L      p.340

          .         .         .         .         .         .       g.15387
 AAGGACCGCGCGGCCATGCCTTACACAGACGCGGTGATCCACGAGGTGCAGCGCTTTGCA       c.1080
 K  D  R  A  A  M  P  Y  T  D  A  V  I  H  E  V  Q  R  F  A         p.360

          .         .         .         .         .         .       g.15447
 GACATCATCCCCATGAACTTGCCGCACCGCGTCACTAGGGACACGGCCTTTCGCGGCTTC       c.1140
 D  I  I  P  M  N  L  P  H  R  V  T  R  D  T  A  F  R  G  F         p.380

          .   | 09     .         .         .         .         .    g.16093
 CTGATACCCAAG | GGCACCGATGTCATCACCCTCCTTAACACCGTCCACTACGACCCCAGC    c.1200
 L  I  P  K   | G  T  D  V  I  T  L  L  N  T  V  H  Y  D  P  S      p.400

          .         .         .         .         .         .       g.16153
 CAGTTCCTGACGCCCCAGGAGTTCAACCCCGAGCATTTTTTGGATGCCAATCAGTCCTTC       c.1260
 Q  F  L  T  P  Q  E  F  N  P  E  H  F  L  D  A  N  Q  S  F         p.420

          .         .         .     | 10   .         .         .    g.18479
 AAGAAGAGTCCAGCCTTCATGCCCTTCTCAGCTG | GGCGCCGTCTGTGCCTGGGAGAGTCG    c.1320
 K  K  S  P  A  F  M  P  F  S  A  G |   R  R  L  C  L  G  E  S      p.440

          .         .         .         .         .         .       g.18539
 CTGGCGCGCATGGAGCTCTTTCTGTACCTCACCGCCATCCTGCAGAGCTTTTCGCTGCAG       c.1380
 L  A  R  M  E  L  F  L  Y  L  T  A  I  L  Q  S  F  S  L  Q         p.460

          .         .         .         .         .         .       g.18599
 CCGCTGGGTGCGCCCGAGGACATCGACCTGACCCCACTCAGCTCAGGTCTTGGCAATTTG       c.1440
 P  L  G  A  P  E  D  I  D  L  T  P  L  S  S  G  L  G  N  L         p.480

          .         .         .                                     g.18635
 CCGCGGCCTTTCCAGCTGTGCCTGCGCCCGCGCTAA                               c.1476
 P  R  P  F  Q  L  C  L  R  P  R  X                                 p.491

          .         .         .         .         .         .       g.18695
 cgccccggcccttccagattcgcctgtgagcgatgaggcccgcccatgcgggttgctacg       c.*60

          .         .         .         .         .         .       g.18755
 tccccttcttggtccacagtctgccctcatccctctggcagtcacgctgtcttccctgca       c.*120

          .         .         .         .         .         .       g.18815
 tgctgtgcctgccgcgtgcccttcccccatccctccaatctgtgccccgtctgcagggca       c.*180

          .         .         .         .         .         .       g.18875
 gaggcagatgtggcatgtctttttgtacccacagagcttgttctatggcacgcccttttc       c.*240

          .         .         .         .         .                 g.18929
 taggctttttgtatcatttcttagtacattgtaatagattcaaaccagtcttgg             c.*294

 (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 F, polypeptide 1 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.