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

(used for variant description)

(last modified May 28, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_145690.2 in the YWHAZ gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000008.10, covering YWHAZ transcript NM_145690.2.

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

 (upstream sequence)
                               .         .         .                g.6298
                             gcagcgtttgacgtcatcgtgcgtgtggtgcc       c.-181

 .         .         .         .         .         .                g.6358
 cctgctgccggggctggtgattggaggaaaccccgtgtctgcggagcggctgtagcctgt       c.-121

 .         .         .         .         .         .                g.6418
 gagcagcgagatccagggacagagtctcagcctcgccgctgctgccgccgccgccgccca       c.-61

 .         .         .         .         .         | 02             g.9506
 gagactgctgagcccgtccgtccgccgccaccacccactccggacacag | aacatccagtc    c.-1

          .         .         .         .         .         .       g.9566
 ATGGATAAAAATGAGCTGGTTCAGAAGGCCAAACTGGCCGAGCAGGCTGAGCGATATGAT       c.60
 M  D  K  N  E  L  V  Q  K  A  K  L  A  E  Q  A  E  R  Y  D         p.20

          .         .         .         .         .         .       g.9626
 GACATGGCAGCCTGCATGAAGTCTGTAACTGAGCAAGGAGCTGAATTATCCAATGAGGAG       c.120
 D  M  A  A  C  M  K  S  V  T  E  Q  G  A  E  L  S  N  E  E         p.40

          .         .         .         .         .         .       g.9686
 AGGAATCTTCTCTCAGTTGCTTATAAAAATGTTGTAGGAGCCCGTAGGTCATCTTGGAGG       c.180
 R  N  L  L  S  V  A  Y  K  N  V  V  G  A  R  R  S  S  W  R         p.60

          .         .         .         .         .         .       g.9746
 GTCGTCTCAAGTATTGAACAAAAGACGGAAGGTGCTGAGAAAAAACAGCAGATGGCTCGA       c.240
 V  V  S  S  I  E  Q  K  T  E  G  A  E  K  K  Q  Q  M  A  R         p.80

          .         .         .         .         .     | 03   .    g.33362
 GAATACAGAGAGAAAATTGAGACGGAGCTAAGAGATATCTGCAATGATGTACTG | TCTCTT    c.300
 E  Y  R  E  K  I  E  T  E  L  R  D  I  C  N  D  V  L   | S  L      p.100

          .         .         .         .         .         .       g.33422
 TTGGAAAAGTTCTTGATCCCCAATGCTTCACAAGCAGAGAGCAAAGTCTTCTATTTGAAA       c.360
 L  E  K  F  L  I  P  N  A  S  Q  A  E  S  K  V  F  Y  L  K         p.120

          .         .         .         .         .         | 04    g.34099
 ATGAAAGGAGATTACTACCGTTACTTGGCTGAGGTTGCCGCTGGTGATGACAAGAAAG | GG    c.420
 M  K  G  D  Y  Y  R  Y  L  A  E  V  A  A  G  D  D  K  K  G |       p.140

          .         .         .         .         .         .       g.34159
 ATTGTCGATCAGTCACAACAAGCATACCAAGAAGCTTTTGAAATCAGCAAAAAGGAAATG       c.480
 I  V  D  Q  S  Q  Q  A  Y  Q  E  A  F  E  I  S  K  K  E  M         p.160

          .         .         .         .         .         .       g.34219
 CAACCAACACATCCTATCAGACTGGGTCTGGCCCTTAACTTCTCTGTGTTCTATTATGAG       c.540
 Q  P  T  H  P  I  R  L  G  L  A  L  N  F  S  V  F  Y  Y  E         p.180

          .         .         .         .   | 05     .         .    g.34363
 ATTCTGAACTCCCCAGAGAAAGCCTGCTCTCTTGCAAAGACA | GCTTTTGATGAAGCCATT    c.600
 I  L  N  S  P  E  K  A  C  S  L  A  K  T   | A  F  D  E  A  I      p.200

          .         .         .         .         .         .       g.34423
 GCTGAACTTGATACATTAAGTGAAGAGTCATACAAAGACAGCACGCTAATAATGCAATTA       c.660
 A  E  L  D  T  L  S  E  E  S  Y  K  D  S  T  L  I  M  Q  L         p.220

          .         | 06         .         .         .         .    g.37685
 CTGAGAGACAACTTGACA | TTGTGGACATCGGATACCCAAGGAGACGAAGCTGAAGCAGGA    c.720
 L  R  D  N  L  T   | L  W  T  S  D  T  Q  G  D  E  A  E  A  G      p.240

          .                                                         g.37703
 GAAGGAGGGGAAAATTAA                                                 c.738
 E  G  G  E  N  X                                                   p.245

          .         .         .         .         .         .       g.37763
 ccggccttccaacttttgtctgcctcattctaaaatttacacagtagaccatttgtcatc       c.*60

          .         .         .         .         .         .       g.37823
 catgctgtcccacaaatagttttttgtttacgatttatgacaggtttatgttacttctat       c.*120

          .         .         .         .         .         .       g.37883
 ttgaatttctatatttcccatgtggtttttatgtttaatattaggggagtagagccagtt       c.*180

          .         .         .         .         .         .       g.37943
 aacatttagggagttatctgttttcatcttgaggtggccaatatggggatgtggaatttt       c.*240

          .         .         .         .         .         .       g.38003
 tatacaagttataagtgtttggcatagtacttttggtacattgtggcttcaaaagggcca       c.*300

          .         .         .         .         .         .       g.38063
 gtgtaaaactgcttccatgtctaagcaaagaaaactgcctacatactggtttgtcctggc       c.*360

          .         .         .         .         .         .       g.38123
 ggggaataaaagggatcattggttccagtcacaggtgtagtaattgtgggtactttaagg       c.*420

          .         .         .         .         .         .       g.38183
 tttggagcacttacaaggctgtggtagaatcataccccatggataccacatattaaacca       c.*480

          .         .         .         .         .         .       g.38243
 tgtatatctgtggaatactcaatgtgtacacctttgactacagctgcagaagtgttcctt       c.*540

          .         .         .         .         .         .       g.38303
 tagacaaagttgtgacccattttactctggataagggcagaaacggttcacattccatta       c.*600

          .         .         .         .         .         .       g.38363
 tttgtaaagttacctgctgttagctttcattatttttgctacactcattttatttgtatt       c.*660

          .         .         .         .         .         .       g.38423
 taaatgttttaggcaacctaagaacaaatgtaaaagtaaagatgcaggaaaaatgaattg       c.*720

          .         .         .         .         .         .       g.38483
 cttggtattcattacttcatgtatatcaagcacagcagtaaaacaaaaacccatgtattt       c.*780

          .         .         .         .         .         .       g.38543
 aacttttttttaggatttttgcttttgtgatttttttttttttgatacttgcctaacatg       c.*840

          .         .         .         .         .         .       g.38603
 catgtgctgtaaaaatagttaacagggaaataacttgagatgatggctagctttgtttaa       c.*900

          .         .         .         .         .         .       g.38663
 tgtcttatgaaattttcatgaacaatccaagcataattgttaagaacacgtgtattaaat       c.*960

          .         .         .         .         .         .       g.38723
 tcatgtaagtggaataaaagttttatgaatggacttttcaactactttctctacagcttt       c.*1020

          .         .         .         .         .         .       g.38783
 tcatgtaaattagtcttggttctgaaacttctctaaaggaaattgtacattttttgaaat       c.*1080

          .         .         .         .         .         .       g.38843
 ttattccttattccctcttggcagctaatgggctcttaccaagtttaaacacaaaattta       c.*1140

          .         .         .         .         .         .       g.38903
 tcataacaaaaatactactaatataactactgtttccatgtcccatgatcccctctcttc       c.*1200

          .         .         .         .         .         .       g.38963
 ctccccaccctgaaaaaaatgagttcctattttttctgggagagggggggattgattaga       c.*1260

          .         .         .         .         .         .       g.39023
 aaaaaatgtagtgtgttccatttaaaattttggcatatggcattttctaacttaggaagc       c.*1320

          .         .         .         .         .         .       g.39083
 cacaatgttcttggcccatcatgacattgggtagcattaactgtaagttttgtgcttcca       c.*1380

          .         .         .         .         .         .       g.39143
 aatcactttttggtttttaagaatttcttgatactcttatagcctgccttcaattttgat       c.*1440

          .         .         .         .         .         .       g.39203
 cctttattctttctatttgtcaggtgcacaagattaccttcctgttttagccttctgtct       c.*1500

          .         .         .         .         .         .       g.39263
 tgtcaccaaccattcttacttggtggccatgtacttggaaaaaggccgcatgatctttct       c.*1560

          .         .         .         .         .         .       g.39323
 ggctccactcagtgtctaaggcaccctgcttcctttgcttgcatcccacagactatttcc       c.*1620

          .         .         .         .         .         .       g.39383
 ctcatcctatttactgcagcaaatctctccttagttgatgagactgtgtttatctccctt       c.*1680

          .         .         .         .         .         .       g.39443
 taaaaccctacctatcctgaatggtctgtcattgtctgcctttaaaatccttcctctttc       c.*1740

          .         .         .         .         .         .       g.39503
 ttcctcctctattctctaaataatgatggggctaagttatacccaaagctcactttacaa       c.*1800

          .         .         .         .         .         .       g.39563
 aatatttcctcagtactttgcagaaaacaccaaacaaaaatgccattttaaaaaaggtgt       c.*1860

          .         .         .         .         .         .       g.39623
 attttttcttttagaatgtaagctcctcaagagcagggacaatgttttctgtatgttcta       c.*1920

          .         .         .         .         .         .       g.39683
 ttgtgcctagtacactgtaaatgctcaataaatattgatgatgggaggcagtgagtcttg       c.*1980

          .         .         .         .         .         .       g.39743
 atgataagggtgagaaactgaaatcccaaacactgttttgttgcttgttttattatgacc       c.*2040

          .         .         .         .         .         .       g.39803
 tcagattaaattgggaaatattggcccttttgaataattgtcccaaatattacattcaaa       c.*2100

          .                                                         g.39820
 taaaagtgcaatggaga                                                  c.*2117

 (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, zeta 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.