hemochromatosis (HFE) - coding DNA reference sequence

(used for variant description)

(last modified June 13, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_000410.3 in the HFE gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008720.1, covering HFE transcript NM_000410.3.

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

 (upstream sequence)
                     .         .         .         .                g.5040
                     ctaaagttctgaaagacctgttgcttttcaccaggaagtt       c.-121

 .         .         .         .         .         .                g.5100
 ttactgggcatctcctgagcctaggcaatagctgtagggtgacttctggagccatccccg       c.-61

 .         .         .         .         .         .                g.5160
 tttccccgccccccaaaagaagcggagatttaacggggacgtgcggccagagctggggaa       c.-1

          .         .         .         .         .         .       g.5220
 ATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTG       c.60
 M  G  P  R  A  R  P  A  L  L  L  L  M  L  L  Q  T  A  V  L         p.20

          .       | 02 .         .         .         .         .    g.8604
 CAGGGGCGCTTGCTGC | GTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAG    c.120
 Q  G  R  L  L  R |   S  H  S  L  H  Y  L  F  M  G  A  S  E  Q      p.40

          .         .         .         .         .         .       g.8664
 GACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTC       c.180
 D  L  G  L  S  L  F  E  A  L  G  Y  V  D  D  Q  L  F  V  F         p.60

          .         .         .         .         .         .       g.8724
 TATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCA       c.240
 Y  D  H  E  S  R  R  V  E  P  R  T  P  W  V  S  S  R  I  S         p.80

          .         .         .         .         .         .       g.8784
 AGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTT       c.300
 S  Q  M  W  L  Q  L  S  Q  S  L  K  G  W  D  H  M  F  T  V         p.100

          .         .         .         . | 03       .         .    g.9053
 GACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGG | AGTCCCACACCCTGCAGGTC    c.360
 D  F  W  T  I  M  E  N  H  N  H  S  K  E |   S  H  T  L  Q  V      p.120

          .         .         .         .         .         .       g.9113
 ATCCTGGGCTGTGAAATGCAAGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTAT       c.420
 I  L  G  C  E  M  Q  E  D  N  S  T  E  G  Y  W  K  Y  G  Y         p.140

          .         .         .         .         .         .       g.9173
 GATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCC       c.480
 D  G  Q  D  H  L  E  F  C  P  D  T  L  D  W  R  A  A  E  P         p.160

          .         .         .         .         .         .       g.9233
 AGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGCACAAGATTCGGGCCAGGCAGAACAGG       c.540
 R  A  W  P  T  K  L  E  W  E  R  H  K  I  R  A  R  Q  N  R         p.180

          .         .         .         .         .         .       g.9293
 GCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTTGCTGGAGCTGGGGAGAGGT       c.600
 A  Y  L  E  R  D  C  P  A  Q  L  Q  Q  L  L  E  L  G  R  G         p.200

          .       | 04 .         .         .         .         .    g.10448
 GTTTTGGACCAACAAG | TGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTG    c.660
 V  L  D  Q  Q  V |   P  P  L  V  K  V  T  H  H  V  T  S  S  V      p.220

          .         .         .         .         .         .       g.10508
 ACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTG       c.720
 T  T  L  R  C  R  A  L  N  Y  Y  P  Q  N  I  T  M  K  W  L         p.240

          .         .         .         .         .         .       g.10568
 AAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGG       c.780
 K  D  K  Q  P  M  D  A  K  E  F  E  P  K  D  V  L  P  N  G         p.260

          .         .         .         .         .         .       g.10628
 GATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATAT       c.840
 D  G  T  Y  Q  G  W  I  T  L  A  V  P  P  G  E  E  Q  R  Y         p.280

          .         .         .         .         .   | 05     .    g.10846
 ACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGG | AGCCCTCA    c.900
 T  C  Q  V  E  H  P  G  L  D  Q  P  L  I  V  I  W  E |   P  S      p.300

          .         .         .         .         .         .       g.10906
 CCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTG       c.960
 P  S  G  T  L  V  I  G  V  I  S  G  I  A  V  F  V  V  I  L         p.320

          .         .         .         .       | 06 .         .    g.11919
 TTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAA | GAGGAGCCATGGGG    c.1020
 F  I  G  I  L  F  I  I  L  R  K  R  Q  G  S  R |   G  A  M  G      p.340

          .         .                                               g.11946
 CACTACGTCTTAGCTGAACGTGAGTGA                                        c.1047
 H  Y  V  L  A  E  R  E  X                                          p.348

          .         .         .         .         .         .       g.12006
 cacgcagcctgcagactcactgtgggaaggagacaaaactagagactcaaagagggagtg       c.*60

          .         .         .         .         .         .       g.12066
 catttatgagctcttcatgtttcaggagagagttgaacctaaacatagaaattgcctgac       c.*120

          .         .         .         .         .         .       g.12126
 gaactccttgattttagccttctctgttcatttcctcaaaaagatttccccatttaggtt       c.*180

          .         .         .         .         .         .       g.12186
 tctgagttcctgcatgccggtgatccctagctgtgacctctcccctggaactgtctctca       c.*240

          .         .         .         .         .         .       g.12246
 tgaacctcaagctgcatctagaggcttccttcatttcctccgtcacctcagagacataca       c.*300

          .         .         .         .         .         .       g.12306
 cctatgtcatttcatttcctatttttggaagaggactccttaaatttgggggacttacat       c.*360

          .         .         .         .         .         .       g.12366
 gattcattttaacatctgagaaaagctttgaaccctgggacgtggctagtcataacctta       c.*420

          .         .         .         .         .         .       g.12426
 ccagatttttacacatgtatctatgcattttctggacccgttcaacttttcctttgaatc       c.*480

          .         .         .         .         .         .       g.12486
 ctctctctgtgttacccagtaactcatctgtcaccaagccttggggattcttccatctga       c.*540

          .         .         .         .         .         .       g.12546
 ttgtgatgtgagttgcacagctatgaaggctgtacactgcacgaatggaagaggcacctg       c.*600

          .         .         .         .         .         .       g.12606
 tcccagaaaaagcatcatggctatctgtgggtagtatgatgggtgtttttagcaggtagg       c.*660

          .         .         .         .         .         .       g.12666
 aggcaaatatcttgaaaggggttgtgaagaggtgttttttctaattggcatgaaggtgtc       c.*720

          .         .         .         .         .         .       g.12726
 atacagatttgcaaagtttaatggtgccttcatttgggatgctactctagtattccagac       c.*780

          .         .         .         .         .         .       g.12786
 ctgaagaatcacaataattttctacctggtctctccttgttctgataatgaaaattatga       c.*840

          .         .         .         .         .         .       g.12846
 taaggatgataaaagcacttacttcgtgtccgactcttctgagcacctacttacatgcat       c.*900

          .         .         .         .         .         .       g.12906
 tactgcatgcacttcttacaataattctatgagataggtactattatccccatttctttt       c.*960

          .         .         .         .         .                 g.12961
 ttaaatgaagaaagtgaagtaggccgggcacggtggctcacgcctgtaatcccag            c.*1015

 (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 Hemochromatosis 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.