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

(used for variant description)

(last modified November 29, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_012479.3 in the YWHAG gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000007.13, covering YWHAG transcript NM_012479.3.

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

 (upstream sequence)
                               .         .         .                g.5037
                        agggggttgtccgtcagtggcacgcacagcagccgca       c.-181

 .         .         .         .         .         .                g.5097
 gccgcctcgcgcccggtcccgcggtcgcagctccagccgcctcctccgcgcagccgccgc       c.-121

 .         .         .         .         .         .                g.5157
 ctcagctgctcgctctgtgggtcggtcctctccggcacttgggctccagtcgcgccctcc       c.-61

 .         .         .         .         .         .                g.5217
 aagcccttcaggccgccccagtgtcctcctccttctccggccagacccagccccgcgaag       c.-1

          .         .         .         .         .         .       g.5277
 ATGGTGGACCGCGAGCAACTGGTGCAGAAAGCCCGGCTGGCCGAGCAGGCGGAGCGCTAC       c.60
 M  V  D  R  E  Q  L  V  Q  K  A  R  L  A  E  Q  A  E  R  Y         p.20

          .         .        | 02.         .         .         .    g.33825
 GACGACATGGCCGCGGCCATGAAGAAC | GTGACAGAGCTGAATGAGCCACTGTCGAATGAG    c.120
 D  D  M  A  A  A  M  K  N   | V  T  E  L  N  E  P  L  S  N  E      p.40

          .         .         .         .         .         .       g.33885
 GAACGAAACCTTCTGTCTGTGGCCTACAAGAACGTTGTGGGGGCACGCCGCTCTTCCTGG       c.180
 E  R  N  L  L  S  V  A  Y  K  N  V  V  G  A  R  R  S  S  W         p.60

          .         .         .         .         .         .       g.33945
 AGGGTCATCAGTAGCATTGAGCAGAAGACATCTGCAGACGGCAATGAGAAGAAGATTGAG       c.240
 R  V  I  S  S  I  E  Q  K  T  S  A  D  G  N  E  K  K  I  E         p.80

          .         .         .         .         .         .       g.34005
 ATGGTCCGTGCGTACCGGGAGAAGATAGAGAAGGAGTTGGAGGCTGTGTGCCAGGATGTG       c.300
 M  V  R  A  Y  R  E  K  I  E  K  E  L  E  A  V  C  Q  D  V         p.100

          .         .         .         .         .         .       g.34065
 CTGAGCCTGCTGGATAACTACCTGATCAAGAATTGCAGCGAGACCCAGTACGAGAGCAAA       c.360
 L  S  L  L  D  N  Y  L  I  K  N  C  S  E  T  Q  Y  E  S  K         p.120

          .         .         .         .         .         .       g.34125
 GTGTTCTACCTGAAGATGAAAGGGGACTACTACCGCTACCTGGCTGAAGTGGCCACCGGA       c.420
 V  F  Y  L  K  M  K  G  D  Y  Y  R  Y  L  A  E  V  A  T  G         p.140

          .         .         .         .         .         .       g.34185
 GAGAAAAGGGCGACGGTGGTGGAGTCCTCCGAGAAGGCCTACAGCGAAGCCCACGAGATC       c.480
 E  K  R  A  T  V  V  E  S  S  E  K  A  Y  S  E  A  H  E  I         p.160

          .         .         .         .         .         .       g.34245
 AGCAAAGAGCACATGCAGCCCACCCACCCCATCCGATTAGGCCTGGCTCTTAACTACTCC       c.540
 S  K  E  H  M  Q  P  T  H  P  I  R  L  G  L  A  L  N  Y  S         p.180

          .         .         .         .         .         .       g.34305
 GTCTTCTACTATGAGATCCAGAACGCCCCAGAGCAAGCGTGCCACTTGGCCAAGACCGCG       c.600
 V  F  Y  Y  E  I  Q  N  A  P  E  Q  A  C  H  L  A  K  T  A         p.200

          .         .         .         .         .         .       g.34365
 TTCGACGACGCCATCGCCGAGCTTGACACCCTCAACGAGGACTCCTACAAGGACTCCACG       c.660
 F  D  D  A  I  A  E  L  D  T  L  N  E  D  S  Y  K  D  S  T         p.220

          .         .         .         .         .         .       g.34425
 CTCATCATGCAGCTCCTCCGCGACAACCTCACGCTCTGGACGAGCGACCAGCAGGACGAC       c.720
 L  I  M  Q  L  L  R  D  N  L  T  L  W  T  S  D  Q  Q  D  D         p.240

          .         .                                               g.34449
 GATGGCGGCGAAGGCAACAATTAA                                           c.744
 D  G  G  E  G  N  N  X                                             p.247

          .         .         .         .         .         .       g.34509
 ggccccaggggaactggcagcgcacgcggatgctactactgcagtctttatttttttccc       c.*60

          .         .         .         .         .         .       g.34569
 atgagttgggggtcgggtgggggagggaaagggagggatgaccttcccagggagaaaccc       c.*120

          .         .         .         .         .         .       g.34629
 acgacctgtcctgtctttgatcgcctctttgacatttttgccaaaataccactagtggaa       c.*180

          .         .         .         .         .         .       g.34689
 agtcaggctagctgtgctggtattggaatagcagcctcacactggcgtctggactgttct       c.*240

          .         .         .         .         .         .       g.34749
 gtagattcatgcaagtggagctgtctgtctctaatttaacttattgctagataatagggt       c.*300

          .         .         .         .         .         .       g.34809
 tttcagatgaaaagaaaacttaaagaggaatggccctcattcagtaagttctgtggttcc       c.*360

          .         .         .         .         .         .       g.34869
 agtaaggatttttatgtacatacgctctcgtctctcgttttgggtactttctatctcatc       c.*420

          .         .         .         .         .         .       g.34929
 tgtctcggctctgcatgttttccagggtgtagcctacagacatggaacagtgtaaatccc       c.*480

          .         .         .         .         .         .       g.34989
 agactgacagacttagaacctgaggtctcattcatccttatggtttaggccttgccagtt       c.*540

          .         .         .         .         .         .       g.35049
 ttccgaagtctctgattagttgacagtattaacactaaattgcagtttacagtatttcta       c.*600

          .         .         .         .         .         .       g.35109
 cattacagccatatgtaacatcaagccatcgattgtgtacttttcctttgctagttgttt       c.*660

          .         .         .         .         .         .       g.35169
 gggctttaacatccttattcagccttatccaggttggttttgctgttgatcggtctccta       c.*720

          .         .         .         .         .         .       g.35229
 ggctaaatgagaatgaaagcgacttcaggtcaggtggctgtgggattttttttttttggt       c.*780

          .         .         .         .         .         .       g.35289
 ccttctttcctcttaacgtaaatccaccaccaaaattattaatcctcttgagagaaacgt       c.*840

          .         .         .         .         .         .       g.35349
 gaaacgccacaaaaatagagaaaattcaggtctgtatgtcatggatcgtgttggtatttt       c.*900

          .         .         .         .         .         .       g.35409
 cagagaacatcccgcttctgaagctgctgcagctccctcctcagggatcacactgccgtc       c.*960

          .         .         .         .         .         .       g.35469
 acccactctgcactggggcgtttcctactgcgcctcgtgctggcggacgcagctgggtgc       c.*1020

          .         .         .         .         .         .       g.35529
 agaagctgtggggtcggagaggcgtttggagaaggtctgtggtgcagtgtgtgaaaattc       c.*1080

          .         .         .         .         .         .       g.35589
 aggtgctagaagcctactggtagaaaaacccaaaaggaagagctatatccttaaccattc       c.*1140

          .         .         .         .         .         .       g.35649
 tgtccaatttcgggagccttgtcagtgtgtcagtttttcctccccgaagacactccttcc       c.*1200

          .         .         .         .         .         .       g.35709
 ccaagtaattgtaggaagataaaaaaactgttaccagataacaaacactgaactcctatt       c.*1260

          .         .         .         .         .         .       g.35769
 tgaccagaactttttcctctcgagatagttttttctttttaatgaaaaaagcataggaat       c.*1320

          .         .         .         .         .         .       g.35829
 tggagattggcttgtctcacgcagccagtgcacatttggaattgacggaaacaacgttgc       c.*1380

          .         .         .         .         .         .       g.35889
 tatttccacccatttgttttcggcagccttaaggccctcattctcatttcgggtgaatct       c.*1440

          .         .         .         .         .         .       g.35949
 gtctatctgtgaacgtggcccgcatgtgcattcttttttttatatatataaagtcagtga       c.*1500

          .         .         .         .         .         .       g.36009
 cgaggaactcccgagacgtgtaatgacaccacacttgttttctttgtttctttgttttat       c.*1560

          .         .         .         .         .         .       g.36069
 ttaggcaagaagaggtgtgagtaattgaggaaaaactgacagatgcttttgctaatacca       c.*1620

          .         .         .         .         .         .       g.36129
 aaattgagcttacaattaggaactgagtatgtgtaacaggatacaggtgacagtgaagat       c.*1680

          .         .         .         .         .         .       g.36189
 agaagaaccacgatgaccacagactcaatgtgctctgtaacatcgcacagtttacccagc       c.*1740

          .         .         .         .         .         .       g.36249
 atgactttccttaggaggccccctcctcacgctagagtaaaagtcccagttaagtgaagc       c.*1800

          .         .         .         .         .         .       g.36309
 ctaccagaagaactagtagaagaagctttgccgcttttgtgcctctcacaggcgcctaaa       c.*1860

          .         .         .         .         .         .       g.36369
 gtcattgccatgggaggaagacgatttggggggggaggggggggggggcagggtaggtgg       c.*1920

          .         .         .         .         .         .       g.36429
 ggctttccctaatttatcttcatgtccagtgagcagtgttgcgtttttccttgtagcatt       c.*1980

          .         .         .         .         .         .       g.36489
 tggaaatgatttactggaattacaaaacctatttttcctttaaatttcagctttggctct       c.*2040

          .         .         .         .         .         .       g.36549
 ggctgctttttagaataatgcaagataaaaatcacacctgagggctgaaaacggagaggg       c.*2100

          .         .         .         .         .         .       g.36609
 aatgggagacttgatatttaagcagcttgaatggtttttcttttctttatttttaaagaa       c.*2160

          .         .         .         .         .         .       g.36669
 atgcacttgcctatgatactgtctctccagtgaaatgattactcctccattactctattg       c.*2220

          .         .         .         .         .         .       g.36729
 atacaatattgtgcatgctagtgttgtatttctatacagtagcttgaaattgattaactt       c.*2280

          .         .         .         .         .         .       g.36789
 atactgtaggtgttatgtattcctatgacaaaaaaaattaagtcttcaaattttttaaag       c.*2340

          .         .         .         .         .         .       g.36849
 gttttttttttttaatttaatttttccttttgggggtaaagtttgctctaccaaatagtg       c.*2400

          .         .         .         .         .         .       g.36909
 attgtaacaaattgatctgttttggatgttgctatagtgacatgcagttatatattttgt       c.*2460

          .         .         .         .         .         .       g.36969
 ttttaaaagggggggagcaaaagaaacaccagtgttagcttaatcttaatgtctggtgtt       c.*2520

          .         .         .         .         .         .       g.37029
 tgtcatggtgaaattataactattacagtgttggagaacaacaaatatgttctctgaatg       c.*2580

          .         .         .         .         .         .       g.37089
 agcctttgtgctttttgtcatgttatgcagtgaactatttttaaggtctaatcagtgatt       c.*2640

          .         .         .         .         .         .       g.37149
 atttttccagctccgtgtttctctaaggaattatttcacacacggaccatctttagcagt       c.*2700

          .         .         .         .         .         .       g.37209
 ttcctcagtgatggaatatcatgaatgtgagtcattatgtagctgtcgtacattgagcaa       c.*2760

          .         .                                               g.37235
 ataaacttacagatctgacgccagtg                                         c.*2786

 (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, gamma 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.