eukaryotic translation initiation factor 4A2 (EIF4A2) - coding DNA reference sequence

(used for variant description)

(last modified December 20, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_001967.3 in the EIF4A2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000003.11, covering EIF4A2 transcript NM_001967.3.

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

 (upstream sequence)
                               .         .         .                g.5039
                      gctgtcttttcagtcgggcgctgagtggtttttcggatc       c.-1

          .         .          | 02        .         .         .    g.5891
 ATGTCTGGTGGCTCCGCGGATTATAACAG | AGAACATGGCGGCCCAGAGGGAATGGACCCC    c.60
 M  S  G  G  S  A  D  Y  N  R  |  E  H  G  G  P  E  G  M  D  P      p.20

          .      | 03  .         .         .         .         .    g.6037
 GATGGTGTCATCGAG | AGCAACTGGAATGAGATTGTTGATAACTTTGATGATATGAATTTA    c.120
 D  G  V  I  E   | S  N  W  N  E  I  V  D  N  F  D  D  M  N  L      p.40

          .         .         .         .         .         .       g.6097
 AAGGAGTCTCTCCTTCGTGGCATCTATGCTTACGGTTTTGAGAAGCCTTCCGCTATTCAG       c.180
 K  E  S  L  L  R  G  I  Y  A  Y  G  F  E  K  P  S  A  I  Q         p.60

          .         .         | 04         .         .         .    g.6422
 CAGAGAGCTATTATTCCCTGTATTAAAG | GGTATGATGTGATTGCTCAAGCTCAGTCAGGT    c.240
 Q  R  A  I  I  P  C  I  K  G |   Y  D  V  I  A  Q  A  Q  S  G      p.80

          .         .         .         .         .         .       g.6482
 ACTGGCAAGACAGCCACATTTGCTATTTCCATCCTGCAACAGTTGGAGATTGAGTTCAAG       c.300
 T  G  K  T  A  T  F  A  I  S  I  L  Q  Q  L  E  I  E  F  K         p.100

          .         .         .         .         | 05         .    g.7323
 GAGACCCAAGCACTAGTATTGGCCCCCACCAGAGAACTGGCTCAACAG | ATCCAAAAGGTA    c.360
 E  T  Q  A  L  V  L  A  P  T  R  E  L  A  Q  Q   | I  Q  K  V      p.120

          .         .         .         .         .         .       g.7383
 ATTCTGGCACTTGGAGACTATATGGGAGCCACTTGTCATGCCTGCATTGGTGGAACAAAT       c.420
 I  L  A  L  G  D  Y  M  G  A  T  C  H  A  C  I  G  G  T  N         p.140

          .         .         .         .         .         .       g.7443
 GTTCGAAATGAAATGCAAAAACTGCAGGCTGAAGCACCACATATTGTTGTTGGTACACCC       c.480
 V  R  N  E  M  Q  K  L  Q  A  E  A  P  H  I  V  V  G  T  P         p.160

          .         .         .        | 06.         .         .    g.7615
 GGGAGAGTGTTTGATATGTTAAACAGAAGATACCTTT | CTCCAAAATGGATCAAAATGTTT    c.540
 G  R  V  F  D  M  L  N  R  R  Y  L  S |   P  K  W  I  K  M  F      p.180

          .         .         .         .         .         .       g.7675
 GTTTTGGATGAAGCAGATGAAATGTTGAGCCGTGGTTTTAAGGATCAAATCTATGAGATT       c.600
 V  L  D  E  A  D  E  M  L  S  R  G  F  K  D  Q  I  Y  E  I         p.200

          .         .        | 07.         .         .         .    g.7963
 TTCCAAAAACTAAACACAAGTATTCAG | GTTGTGTTGCTTTCTGCCACAATGCCAACTGAT    c.660
 F  Q  K  L  N  T  S  I  Q   | V  V  L  L  S  A  T  M  P  T  D      p.220

          .         .         .         .         .         .       g.8023
 GTGTTGGAAGTGACCAAAAAATTCATGAGAGATCCAATTCGAATTCTGGTGAAAAAGGAA       c.720
 V  L  E  V  T  K  K  F  M  R  D  P  I  R  I  L  V  K  K  E         p.240

          .         .         .         .         .  | 08      .    g.8564
 GAATTGACCCTTGAAGGAATCAAACAGTTTTATATTAATGTTGAGAGAGAG | GAATGGAAG    c.780
 E  L  T  L  E  G  I  K  Q  F  Y  I  N  V  E  R  E   | E  W  K      p.260

          .         .         .         .         .         .       g.8624
 TTGGATACACTTTGTGACTTGTACGAGACACTGACCATTACACAGGCTGTTATTTTTCTC       c.840
 L  D  T  L  C  D  L  Y  E  T  L  T  I  T  Q  A  V  I  F  L         p.280

          .         .         .         .         .         .       g.8684
 AATACGAGGCGCAAGGTGGACTGGCTGACTGAGAAGATGCATGCCAGAGACTTCACAGTT       c.900
 N  T  R  R  K  V  D  W  L  T  E  K  M  H  A  R  D  F  T  V         p.300

           | 09        .         .         .         .         .    g.8974
 TCTGCTCTG | CATGGTGACATGGACCAGAAGGAGAGAGATGTTATCATGAGGGAATTCCGG    c.960
 S  A  L   | H  G  D  M  D  Q  K  E  R  D  V  I  M  R  E  F  R      p.320

          .         .         .          | 10        .         .    g.9252
 TCAGGGTCAAGTCGTGTTCTGATCACTACTGACTTGTTG | GCTCGCGGGATTGATGTGCAA    c.1020
 S  G  S  S  R  V  L  I  T  T  D  L  L   | A  R  G  I  D  V  Q      p.340

          .         .         .         .         .          | 11    g.10554
 CAAGTGTCTTTGGTTATAAATTATGATCTACCTACCAATCGTGAAAACTATATTCACAG | A    c.1080
 Q  V  S  L  V  I  N  Y  D  L  P  T  N  R  E  N  Y  I  H  R  |      p.360

          .         .         .         .         .         .       g.10614
 ATTGGCAGAGGGGGTCGATTTGGGAGGAAAGGTGTGGCTATAAACTTTGTTACTGAAGAA       c.1140
 I  G  R  G  G  R  F  G  R  K  G  V  A  I  N  F  V  T  E  E         p.380

          .         .         .         .         .         .       g.10674
 GACAAGAGGATTCTTCGTGACATTGAGACTTTCTACAATACTACAGTGGAGGAGATGCCC       c.1200
 D  K  R  I  L  R  D  I  E  T  F  Y  N  T  T  V  E  E  M  P         p.400

          .         .                                               g.10698
 ATGAATGTGGCTGACCTTATTTAA                                           c.1224
 M  N  V  A  D  L  I  X                                             p.407

          .         .         .         .         .         .       g.10758
 ttcctgggatgagagttttggatgcagtgctcgctgttgctgaataggcgatcacaacgt       c.*60

          .         .         .         .         .         .       g.10818
 gcattgtgcttctttctttgggaatatttgaatcttgtctcaatgctcataacggatcag       c.*120

          .         .         .         .         .         .       g.10878
 aaatacagattttgatagcaaagcgacgttagtcgtgagctcttgtgaggaaagtcattg       c.*180

          .         .         .         .         .         .       g.10938
 gctttatcctctttagagttagactgttggggtgggtataaaagatggggtctgtaaaat       c.*240

          .         .         .         .         .         .       g.10998
 ctttctttcttagaaatttatttcctagttctgtagaaatggttgtattagatgttctct       c.*300

          .         .         .         .         .         .       g.11058
 atcatttaataatatacttgtggactaaaagatataagtgctgtataaaatcagccaatt       c.*360

          .         .         .         .         .         .       g.11118
 atgttaaactagcatatctgcctttattgtgtttgtcattagcctgagtagaaaggcctt       c.*420

          .         .         .         .         .         .       g.11178
 taaaatttttttagaaagcatttgaatgcattttgtttggtattgtatttattcaataaa       c.*480

          .         .         .         .         .         .       g.11238
 gtatttaattagtgctaagtgtgaactggaccctgttgctaagccccagcaagcaatcct       c.*540

          .         .         .         .         .         .       g.11298
 aggtagggtttaatccccagtaaaattgccatattgcacatgtcttaatgaagtttgaat       c.*600

          .         .                                               g.11326
 gttaaataaattgtatattcactttaaa                                       c.*628

 (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 Eukaryotic translation initiation factor 4A2 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.