tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE) - coding DNA reference sequence

(used for variant description)

(last modified January 14, 2025)

This file was created to facilitate the description of sequence variants on transcript NM_006761.4 in the YWHAE gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000017.10, covering YWHAE transcript NM_006761.4.

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

 (upstream sequence)
                               .         .         .                g.5032
                             tagagctgagcagttgtccgcgtgcgcaggcg       c.-121

 .         .         .         .         .         .                g.5092
 gaagtcccggattgaggcgccgccatttttgctgcccggacgcggagcgagaggctgaga       c.-61

 .         .         .         .         .         .                g.5152
 gagtcggagacactatccgcttccatccgtcgcgcagaccctgccggagccgctgccgct       c.-1

          .         .         .         .         .         .       g.5212
 ATGGATGATCGAGAGGATCTGGTGTACCAGGCGAAGCTGGCCGAGCAGGCTGAGCGATAC       c.60
 M  D  D  R  E  D  L  V  Y  Q  A  K  L  A  E  Q  A  E  R  Y         p.20

      | 02   .         .         .         .         .         .    g.40260
 GACG | AAATGGTGGAGTCAATGAAGAAAGTAGCAGGGATGGATGTGGAGCTGACAGTTGAA    c.120
 D  E |   M  V  E  S  M  K  K  V  A  G  M  D  V  E  L  T  V  E      p.40

          .         .         .         .         .         .       g.40320
 GAAAGAAACCTCCTATCTGTTGCATATAAGAATGTGATTGGAGCTAGAAGAGCCTCCTGG       c.180
 E  R  N  L  L  S  V  A  Y  K  N  V  I  G  A  R  R  A  S  W         p.60

          .         .         .         .         .         .       g.40380
 AGAATAATCAGCAGCATTGAACAGAAAGAAGAAAACAAGGGAGGAGAAGACAAGCTAAAA       c.240
 R  I  I  S  S  I  E  Q  K  E  E  N  K  G  G  E  D  K  L  K         p.80

          .         .     | 03   .         .         .         .    g.43290
 ATGATTCGGGAATATCGGCAAATG | GTTGAGACTGAGCTAAAGTTAATCTGTTGTGACATT    c.300
 M  I  R  E  Y  R  Q  M   | V  E  T  E  L  K  L  I  C  C  D  I      p.100

          .         .         .         .         .         .       g.43350
 CTGGATGTACTGGACAAACACCTCATTCCAGCAGCTAACACTGGCGAGTCCAAGGTTTTC       c.360
 L  D  V  L  D  K  H  L  I  P  A  A  N  T  G  E  S  K  V  F         p.120

          .  | 04      .         .         .         .         .    g.44013
 TATTATAAAAT | GAAAGGGGACTACCACAGGTATCTGGCAGAATTTGCCACAGGAAACGAC    c.420
 Y  Y  K  M  |  K  G  D  Y  H  R  Y  L  A  E  F  A  T  G  N  D      p.140

          .         .         .         .         .         .       g.44073
 AGGAAGGAGGCTGCGGAGAACAGCCTAGTGGCTTATAAAGCTGCTAGTGATATTGCAATG       c.480
 R  K  E  A  A  E  N  S  L  V  A  Y  K  A  A  S  D  I  A  M         p.160

          .         .         .         .         .         .       g.44133
 ACAGAACTTCCACCAACGCATCCTATTCGCTTAGGTCTTGCTCTCAATTTTTCCGTATTC       c.540
 T  E  L  P  P  T  H  P  I  R  L  G  L  A  L  N  F  S  V  F         p.180

          .         .         .         | 05         .         .    g.50937
 TACTACGAAATTCTTAATTCCCCTGACCGTGCCTGCAG | GTTGGCAAAAGCAGCTTTTGAT    c.600
 Y  Y  E  I  L  N  S  P  D  R  A  C  R  |  L  A  K  A  A  F  D      p.200

          .         .         .         .         .         .       g.50997
 GATGCAATTGCAGAACTGGATACGCTGAGTGAAGAAAGCTATAAGGACTCTACACTTATC       c.660
 D  A  I  A  E  L  D  T  L  S  E  E  S  Y  K  D  S  T  L  I         p.220

          .         .         .         .         .      | 06  .    g.59768
 ATGCAGTTGTTACGTGATAATCTGACACTATGGACTTCAGACATGCAGGGTGACG | GTGAA    c.720
 M  Q  L  L  R  D  N  L  T  L  W  T  S  D  M  Q  G  D  G |   E      p.240

          .         .         .         .                           g.59816
 GAGCAGAATAAAGAAGCGCTGCAGGACGTGGAAGACGAAAATCAGTGA                   c.768
 E  Q  N  K  E  A  L  Q  D  V  E  D  E  N  Q  X                     p.255

          .         .         .         .         .         .       g.59876
 gacataagccaacaagagaaaccatctctgaccaccccctcctccccatcccaccctttg       c.*60

          .         .         .         .         .         .       g.59936
 gaaactccccattgtcactgagaaccaccaaatctgacttttacatttggtctcagaatt       c.*120

          .         .         .         .         .         .       g.59996
 taggttcctgccctgttggttttttttttttttttttaaacagttttcaaaagttcttaa       c.*180

          .         .         .         .         .         .       g.60056
 aggcaagagtgaatttctgtggattttactggtcccagcttttaggttctttaagacact       c.*240

          .         .         .         .         .         .       g.60116
 aacaggactacatagaggctttttcagcattactgtgtcgtctccgtgccagatgtggca       c.*300

          .         .         .         .         .         .       g.60176
 agatcaccattagcaaatggaaattacatttgaaagccattagacttataggtgatgcaa       c.*360

          .         .         .         .         .         .       g.60236
 gcatctaagagagaggttaatcacactatagaggcataagtggtatcagttttcattttt       c.*420

          .         .         .         .         .         .       g.60296
 ctaattgtttaaactgtgttttataccagtgtttgcaagtaattgggtgttagcttgaga       c.*480

          .         .         .         .         .         .       g.60356
 tggttaaaggtggtttggggagggacttcgttgtaatggttttgctgtaaaaaatgtttc       c.*540

          .         .         .         .         .         .       g.60416
 caactccgctgaaatgttgctgaaaagcatggtgctggtaacagttcaacaatccgtggc       c.*600

          .         .         .         .         .         .       g.60476
 tgctcattcttgcctactttactctcccactgaagcaggttagcgttgaaggtggtatgg       c.*660

          .         .         .         .         .         .       g.60536
 aaaagcctgcatgcctgttcaattcttttgtttcttctccttccccctccccctacctcc       c.*720

          .         .         .         .         .         .       g.60596
 ttcccctcactcctcccctccttcgctcgctcaacctcttttgttcagtatgtgtaactt       c.*780

          .         .         .         .         .         .       g.60656
 gaagctaatttgtactactggatatctgactggagccacagatacagaatctgtattgtt       c.*840

          .         .         .         .         .         .       g.60716
 cttactgaaacacagcatggaattaacattaaacttaaataaaacaaacctaaattaaaa       c.*900

                                                                    g.60723
 atgccaa                                                            c.*907

 (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 Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 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.